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Releases: monarch-initiative/mondo

v2020-04-29

29 Apr 15:34
@cmungall cmungall
v2020-04-29
44b20f5
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v2020-04-29

Summary

  • 393 new classes
  • 43 classes were obsoleted
  • 64 classes were renamed

New Classes

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Assets 12
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v2020-04-05

06 Apr 15:59
@cmungall cmungall
v2020-04-05
554995c
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v2020-04-05

Summary

  • 86 new classes
  • 23 obsoletions
  • 64 renamed classes

New Classes

Obsoletions

  • MONDO:0000184 congenital vitamin K-dependent coagulation factors combined deficiency --> obsolete congenital vitamin K-dependent coagulation factors
    com...
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v2020-03-05

06 Mar 19:57
@cmungall cmungall
v2020-03-05
269db68
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v2020-03-05

Summary:

  • 9 new classes
  • 7 classes obsoleted
  • 27 classes were renamed

Detailed changes:

New Classes

Obsoletions

  • MONDO:0000024 exostoses, multiple --> obsolete exostoses, multiple
  • MONDO:0006697 Chlamydophila infectious disease --> obsolete Chlamydophila infectious disease
  • MONDO:0007065 adenosine deaminase, elevated, hemolytic anemia due to --> obsolete adenosine deaminase, elevated, hemolytic anemia due to
  • MONDO:0008033 autosomal dominant limb-girdle muscular dystrophy type 1B --> obsolete autosomal dominant limb-girdle muscular dystrophy type 1B
  • MONDO:0011809 Mammographic density --> obsolete mammographic density
  • MONDO:0012372 hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features --> obsolete hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features
  • MONDO:0060722 neurodevelopmental disorder with brain, liver, and lung abnormalities --> obsolete neurodevelopmental disorder with brain, liver, and lung abnormalities

Renaming

  • MONDO:0000024 exostoses, multiple --> obsolete exostoses, multiple
  • MONDO:0005775 glucosephosphate dehydrogenase deficiency --> G6PD deficiency
  • MONDO:0006697 Chlamydophila infectious disease --> obsolete Chlamydophila infectious disease
  • MONDO:0007065 adenosine deaminase, elevated, hemolytic anemia due to --> obsolete adenosine deaminase, elevated, hemolytic anemia due to
  • MONDO:0008033 autosomal dominant limb-girdle muscular dystrophy type 1B --> obsolete autosomal dominant limb-girdle muscular dystrophy type 1B
  • MONDO:0010433 SLEB15 --> systemic lupus erythematosus, susceptibility to, 15
  • MONDO:0010624 ichthyosis follicularis-alopecia-photophobia syndrome --> IFAP/Breshek syndrome
  • MONDO:0010898 familial temporal lobe epilepsy 1 --> Autosomal dominant epilepsy with auditory features
  • MONDO:0011560 SLEB3 --> systemic lupus erythematosus, susceptibility to, 3
  • MONDO:0011807 SLEH1 --> systemic lupus erythematosus with hemolytic anemia, susceptibility to, 1
  • MONDO:0011809 Mammographic density --> obsolete mammographic density
  • MONDO:0011942 SLEN1 --> systemic lupus erythematosus with nephritis, susceptibility to, 1
  • MONDO:0011943 SLEN2 --> systemic lupus erythematosus with nephritis, susceptibility to, 2
  • MONDO:0011944 SLEN3 --> systemic lupus erythematosus with nephritis, susceptibility to, 3
  • MONDO:0012036 SLEB4 --> systemic lupus erythematosus, susceptibility to, 4
  • MONDO:0012361 SLEB5 --> systemic lupus erythematosus, susceptibility to, 5
  • MONDO:0012369 SLEB6 --> systemic lupus erythematosus, susceptibility to, 6
  • MONDO:0012372 hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features --> obsolete hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features
  • MONDO:0012403 SLEB7 --> systemic lupus erythematosus, susceptibility to, 7
  • MONDO:0012404 SLEB8 --> systemic lupus erythematosus, susceptibility to, 8
  • MONDO:0012836 SLEB12 --> systemic lupus erythematosus, susceptibility to, 12
  • MONDO:0012884 SLEB13 --> systemic lupus erythematosus, susceptibility to, 13
  • MONDO:0013152 SLEB14 --> systemic lupus erythematosus, susceptibility to, 14
  • MONDO:0013731 early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome --> MEGF10-Related Myopathy
  • MONDO:0013743 autosomal systemic lupus erythematosus --> autosomal systemic lupus erythematosus type 16
  • MONDO:0020135 non-syndromic pontocerebellar hypoplasia --> pontocerebellar hypoplasia
  • MONDO:0060722 neurodevelopmental disorder with brain, liver, and lung abnormalities --> obsolete neurodevelopmental disorder with brain, liver, and lung abnormalities

Also available here changes.md

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v2020-01-27

28 Jan 20:58
@cmungall cmungall
v2020-01-27
002131d
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v2020-01-27

2020-01-27 release

  • revise text def for MONDO:0001973
  • update label for MONDO:0014510
  • relabel MONDO:0014510; fixes #811
  • remove superclass assertion to inherited genetic disease
  • revise text def for MONDO:0001973
  • edit MONDO_0016063
  • add metadata to MONDO:0010778; addresses #1085
  • rename MONDO:0009796
  • fix typos; fixes #1103
  • obsolete MONDO:0022469; fixes #141
  • obsolete terms that have been obsoleted in GARD; addresses #141
  • remove xref to OMIM:101900
  • I don't think 'Darier disease' is considered a subclass of OMIM:101900 ACROKERATOSIS VERRUCIFORMIS
  • remove xrefs to EFO:0004124 from 'Darier disease'; fixes #10
  • EFO:0004124 no longer exists in EFO
  • rename MONDO:0009796; fixes #724
  • add new term MONDO:0100095; fixes #801
  • revise synonym; fixes #884
  • obsolete MONDO:0012647; fixes #1062
  • revise xrefs for Meige disease; fixes #1087
  • fix typo; fixes #1083
  • add axiom to MONDO_0010778; addresses #1085
  • add new term MONDO:0100094; addresses #1084
  • remove comment from MONDO:0016747; fixes #424
  • add synonym to MONDO:0014558; fixes #1052
  • edit MONDO_0016063
  • move synonyms to MONDO:0024542; fixes #1059
  • obsolete MONDO:0010394; fixes #1019
  • edit MONDO_0013981
  • added synonym: familial myoclonus
  • replaced dbxref OMIM:614937 with OMIM:PS614937
  • added new subclasses: - MYOCLONUS, FAMILIAL, 2; - myoclonus, familial, 1; fixes #1061
  • add xref and seeAlso; addresses #1054
  • revise superclass for 'Kleefstra syndrome due to 9q34 microdeletion'; fixes #1063
  • remove comment from MONDO:0016248; fixes #434
  • fix def for MONDO:0016249; addresses #434
  • obsolete Leigh disease; fixes #675
  • remove new superclass from MONDO_0024308
  • 'pseudoxanthoma elasticum (inherited or acquired)'; addresses #1015
  • add axiom linking to ncbitaxon to MONDO_0001973; fixes #809
  • revise definition for MONDO:0001973; addresses #809
  • add superclass and additional annotations to MONDO:0024308; fixes #1015
  • obsolete MONDO:0007613; fixes #1029
  • remove comment from MONDO_0005094; closes #433
  • obsolete MONDO:0022418; fixes #431
  • add synonyms to MONDO_0014812; addresses #1054
  • obsolete MONDO:0009834 pancreatic insufficiency, combined exocrine; fixes #710
  • rename MONDO:0004819; fixes #423
  • add term replaced by to MONDO_0009289
  • remove comment from MONDO_0018065; fixes #427
  • relabel MONDO_0001083
  • and remove comment on MONDO_0007600 'primary Fanconi syndrome'; fixes #428
  • obsolete MONDO:0005403 neonatal systemic lupus erthematosus; fixes #986
  • obsolete MONDO:0009289 glycogen storage disease IC; fixes #430
  • Minor BBS and PXE changes
  • PXE minor changes (see also #1046 for other PXE changes)
  • reclassified 'ischemia reperfusion injury'; fixes #1040
  • revise superclass for MONDO_0006761; addresses #1029
  • revise label for MONDO_0000595 'sexual disorder'
  • reclassify MONDO_0002134 'physiological sexual disorder'; addresses #723
  • revise label for MONDO:0016644
  • revise superclass for MONDO_0005079
  • add axiom to MONDO_0006625
  • revise superclass for MONDO_0006625; addresses #1013
  • revise superclass for MONDO_0005079; fixes #1014
  • revise text def and synonym; fixes #1032
  • update superclass and label for MONDO_0005468; fixes #1030
  • remove incorrect superclass and annotations for MONDO_0016644; fixes #1028
  • moved PMID in xref to dbxef on text def for MONDO_0004977
  • add superclass to MONDO_0005688
  • revise superclass assertions for MONDO_0005219 and MONDO_0021154; fixes #1016
  • add superclass to MONDO_0005688; fixes #1017
  • revise synonym annotations for MONDO_0008564; fixes #1006
  • remove superclass assertions for MONDO_0008608; fixes #824
  • add superclass assertion to MONDO_0015967; fixes #1022
  • BBS text def, see monarch-initiative/hpo-annotation-data#402
  • revise superclasses; fixes #990
  • revise label and superclass for MONDO_0002436
  • and add synonym to MONDO_0024623; addresses #525
  • update annotation on MONDO:0005158; fixes #991
  • revise superclasses for MONDO:0018982 'Niemann-Pick disease type C'; fixes #565
  • fix dbxrefs; addresses #1002
  • moved OMIM xref to new terem; fixes #1004
  • added def to anotia facial palsy cardiac defect'
  • added def to Anophthalmia megalocornea cardiopathy skeletal anomalies; Note - this was in Orphanet, but not xref'd in MONDO
  • added def to anophthalmia esophageal atresia cryptorchidism'
  • added def to annular constricting bands'
  • added def to angiomyomatous hamartoma'
  • added def to amyloidosis bronchopulmonary'
  • added def to alopecia universalis onychodystrophy vitiligo'

New Classes

Obsoletions

  • MONDO:0005403 neonatal systemic lupus erthematosus --> obsolete neonatal systemic lupus erthematosus
  • MONDO:0007613 fibromuscular dysplasia of arteries --> obsolete fibromuscular dysplasia of arteries
  • MONDO:0009289 glycogen storage disease IC --> obsolete glycogen storage disease IC
  • MONDO:0009834 pancreatic insufficiency, combined exocrine --> obsolete pancreatic insufficiency, combined exocrine
  • MONDO:0010394 leukoencephalopathy-metaphyseal chondrodysplasia syndrome --> obsolete leukoencephalopathy-metaphyseal chondrodysplasia syndrome
  • MONDO:0012647 generalized epilepsy with febrile seizures plus, type 3 --> obsolete generalized epilepsy with febrile seizures plus, type 3
  • MONDO:0018859 Leigh disease --> obsolete Leigh disease
  • MONDO:0021909 aplasia cutis congenita recessive --> obsolete aplasia cutis congenita recessive
  • MONDO:0022418 alopecia immunodeficiency --> obsolete alopecia immunodeficiency
  • MONDO:0022464 anophthalmia microcephaly hypogonadism --> obsolete anophthalmia microcephaly hypogonadism
  • MONDO:0022469 aortic arches defect --> obsolete aortic arches defect
  • MONDO:0022495 arthritis short stature deafness --> obsolete arthritis short stature deafness
  • MONDO:0023141 antihypertensive drugs antenatal exposure syndrome --> obsolete antihypertensive drugs antenatal exposure syndrome

Renaming

  • MONDO:0000595 sexual disorder --> sexual and gender identity disorders
  • MONDO:0001083 Fanconi syndrome --> Fanconi renotubular syndrome
  • MONDO:0002436 nose disease --> nasal disorder
  • MONDO:0004819 indolent myeloma --> indolent plasma cell myeloma
  • MONDO:0005403 neonatal systemic lupus erthematosus --> obsolete neonatal systemic lupus erthematosus
  • MONDO:0005468 hypotension (disease) --> hypotensive disorder
  • MONDO:0007613 fibromuscular dysplasia of arteries --> obsolete fibromuscular dysplasia of arteries
  • MONDO:0009289 glycogen storage disease IC --> obsolete glycogen storage disease IC
  • MONDO:0009796 gyrate atrophy --> ornithine aminotransferase deficiency
  • MONDO:0009834 pancreatic insufficiency, combined exocrine --> obsolete pancreatic insufficiency, combined exocrine
  • MONDO:0010394 leukoencephalopathy-metaphyseal chondrodysplasia syndrome --> obsolete leukoencephalopathy-metaphyseal chondrodysplasia syndrome
  • MONDO:0011891 epilepsy, childhood absence, susceptibility to, 2 --> febrile seizures, familial, 8
  • MONDO:0012647 generalized epilepsy with febrile seizures plus, type 3 --> obsolete generalized epilepsy with febrile seizures plus, type 3
  • MONDO:0014510 severe intellectual disability-epilepsy-cataract syndrome due to fatty acyl-CoA reductase 1 deficiency --> fatty acyl-CoA reductase 1 deficiency
  • MONDO:0014761 hereditary pediatric BehC'et-like disease --> hereditary pediatric Behçet-like disease
  • MONDO:0016644 Logopenic progressive aphasia --> logopenic progressive aphasia
  • MONDO:0018859 Leigh disease --> obsolete Leigh disease
  • MONDO:0021909 aplasia cutis congenita recessive --> obsolete aplasia cutis congenita recessive
  • MONDO:0022418 alopecia immunodeficiency --> obsolete alopecia immunodeficiency
  • MONDO:0022464 anophthalmia microcephaly hypogonadism --> obsolete anopht...
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v2019-11-25

26 Nov 17:54
@cmungall cmungall
v2019-11-25
6b8db83
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v2019-11-25

2019-11-25 release

  • reclasify paralysis terms - closes #622
  • obsolete MONDO:0016076 - closes #842
  • revise superclass for MONDO_0006685 - closes #580
  • obsolete MONDO:0009651 - closes #816
  • add comment to MONDO:0005259 closes #705
  • update annotations on MONDO:0006849 closes #989
  • revise superclasses for MONDO_0016823 closes #581
  • relabel MONDO:0019303 addresses #821
  • add subclassOf relations to MONDO_0008608 'Down syndrome' closes #824
  • add superclassOf axiom to MONDO_0007052 'growth hormone secreting pituitary adenoma 1' closes #692
  • add superclassOf relation to MONDO_0007052 'growth hormone secreting pituitary adenoma 1' addresses #692
  • rename MONDO:0007750 hypercholesterolemia, familial, 1 closes #729.
  • obsolete 'sensory system disease' closes #823
  • remove excluded subclass of from MONDO_0001202 closes #726
  • revise annotations for MONDO_0005305 addresses #924
  • obsolete MONDO:0001445 neurogenic bladder (disease) closes #974
  • delete xref to obsolete EFO term addresses #992
  • obsolete MONDO:0022460 closes #140
  • obsolete MONDO:0007563 and MONDO:0005305 closes #924
  • remove incorrect xref from MONDO:0016462 isolated agammaglobulinemia closes #800
  • excluding DO syns that clash with other exact syns, see #808
  • excluding DO syns that clash with other label, see #808
  • update label and syn scope for Mungan syndrome closes #887
  • relink excluded subclass of closes #898
  • reclassiify 'Hinman syndrome' and add equiv axiom to neurogenic bladder addresses #885
  • obsolete MONDO:0009639 mitochondrial myopathy with lactic acidosis closes #817
  • obsolete MONDO:0022314 closes #880
  • add def to MONDO:0013419 closes #959
  • revise superclass for MONDO_0010252 closes #926
  • add new term MONDO:0100085 cancer of long bone of upper limb closes #899
  • merged dupes for nephropathic infantile cystinosis, fixes #960
  • changes for #960
  • add MONDO:0100086 perinatal disease addresses #685
  • add new terms MONDO:0100087 familial Alzheimber disease MONDO:0100088 late-onset familial alzheimer disease closes #921
  • obsolete MONDO:0006775 closes #877
  • remove superclasses for cystic fibrosis addresses #685
  • reclassify MONDO_0004961 and MONDO:0004962 and revise text def for MONDO:0004962 per EBISPOT/efo#329 closes #490
  • Revise classification of MONDO:0044013 'puerperal disorder' closes #652
  • fix typo closes #883
  • fix typo address #926
  • revise de for MONDO:0000509 addresses #926
  • revise subclass for MONDO_0014224 addresses #926
  • change labels addresses #926
  • add axiom to actinopathy closes #942
  • update text def for MONDO:0013343 closes #939
  • revised synonym scope for 'C1Q deficiency' closes #940
  • revise subclass assertions for MONDO:0009833 closes #859
  • add missing period in text def for MONDO:0005413 addresses #685
  • relabel MONDO:0005413 and change superclass addresses #685
  • fixed issue subclassOf assertion for MONDO_0022968 addresses #841
  • obsoleted drug response terms Obsoleted these classes: MONDO_0007348 Colchicine resistance MONDO_0008697 'acetophenetidin sensitivity' MONDO_0008906 Carbimazole sensitivity MONDO_0012294 CYP2C19-related poor drug metabolism MONDO_0012148 'drug metabolism, poor, CYP2D6-related' MONDO_0014330 'eculizumab, poor response to' closes #860
  • obsolete class MONDO:0004823 addresses #841
  • obsolete MONDO:0019184 closes #836
  • update synonyms for MONDO:0060702 closes #875
  • remove dbxref from MONDO_0009290 closes #862
  • remove superclass assertions for MONDO:0009169 addresses #834
  • remove subclassof assertions Removed subClass Of assertions and added execluded subclass of annotatiions for MONDO:0010631 and MONDO:0010568 closes #912
  • add new term MONDO:0100084 actinopathy closes #900
  • remove incorrect xrefs and synonyms from endotheliitis closes #904
  • fix issues with prion disease terms addresses issues outlined in #908
  • remove subclass of assertioin for MONDO_0005772 (geotrichosis) closes #909
  • add term replaced by annotation to 'obsolete Marfan syndrome type 2' closes #913
  • Fixes gene URI issues fixes #905 also normalizes

New Classes

Obsoletions

  • MONDO:0001445 neurogenic bladder (disease) --> obsolete neurogenic bladder (disease)
  • MONDO:0004823 dextrocardia --> obsolete dextrocardia
  • MONDO:0005128 sensory system disease --> obsolete sensory system disease
  • MONDO:0005305 epistaxis --> obsolete epistaxis
  • MONDO:0006775 haemophilus influenzae meningitis --> obsolete haemophilus influenzae meningitis
  • MONDO:0007348 colchicine resistance --> obsolete colchicine resistance
  • MONDO:0007563 epistaxis, hereditary --> obsolete epistaxis, hereditary
  • MONDO:0008697 acetophenetidin sensitivity --> obsolete acetophenetidin sensitivity
  • MONDO:0008906 carbimazole sensitivity --> obsolete carbimazole sensitivity
  • MONDO:0009065 cystinosis, nephropathic --> obsolete cystinosis, nephropathic
  • MONDO:0009639 mitochondrial myopathy with lactic acidosis --> obsolete mitochondrial myopathy with lactic acidosis
  • MONDO:0009651 pseudo-Hurler ...
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2019-10-25

26 Oct 00:22
@cmungall cmungall
v2019-10-25
15a6fcc
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2019-10-25
  • remove HP_0000010 'Recurrent urinary tract infections' as a dbxref fr…
  • Fixed id typo , see #890
  • obsoleting generic sucrose intolerance (a phenotype), fixes #886. Axiomatizing other intestinal malabsorbtion diseases
  • revise logical def of 'cystic fibrosis associated meconium ileum'. Addresses #685
  • fix typos. close #873
  • add new term MONDO:0100083 'hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1'. Closes #864
  • revise label, def and synonyms for MONDO_0011071. Closes #863
  • revise labels for hepatitis infection terms. Addresses #825
  • fix ID for 'sleep disorder' in superclass assertion for 'sleep-wake disorder'. Closes #866
  • obsolete MONDO:0005409 variant Creutzfeld Jacob disease. Closes #847
  • add superclass and def for LMNA-related cardiocutaneous progeria syndrome: Addresses #821
  • revise superclasses for 'Hallermann-Streiff syndrome'. addresses #821
  • revise parents and def for De Barsy syndrome. Addresses #821
  • add superclasses and def for acrogeria. Addresses #821
  • revise parent for 'premature aging'. Addresses #821
  • revise text def for 'subcorneal pustular dermatosis'. Addresses #808
  • remove HP: 0001941 as an dbxef to MONDO:0041261 'disorder of acid-base balance'. Addresses #841
  • move MONDO:0001650 'acute cystitis (disease)' to a child of MONDO:0005247 'urinary tract infection (disease)'. Addresses #841
  • remove HP_0000010 'Recurrent urinary tract infections' as a dbxref from MONDO:0001650 'acute cystitis (disease)' and MONDO:0005247 'urinary tract infection (disease)'. Addresses #841
  • add deprecated annotation to synonyms of 'intellectual disability, autosomal recessive 15'. addresses #73
  • delete SubClassOf assertion 'disease has location' some 'hepatobiliary system' (source:EFO:0006513). addresses #834
  • update def for MONDO:0016076. addresses #842

New Classes

Obsoletions

  • MONDO:0005409 variant Creutzfeld Jacob disease --> obsolete variant Creutzfeld Jacob disease
  • MONDO:0045021 sucrose intolerance disease --> obsolete sucrose intolerance disease

Renaming

  • MONDO:0005231 hepatitis C infection --> hepatitis C virus infection
  • MONDO:0005344 hepatitis B infection --> hepatitis B virus infection
  • MONDO:0005354 chronic hepatitis C infection --> chronic hepatitis C virus infection
  • MONDO:0005366 chronic hepatitis B infection --> chronic hepatitis B virus infection
  • MONDO:0005409 variant Creutzfeld Jacob disease --> obsolete variant Creutzfeld Jacob disease
  • MONDO:0005788 hepatitis E infection --> hepatitis E virus infection
  • MONDO:0005789 hepatitis D infection --> hepatitis D virus infection
  • MONDO:0005790 hepatitis A infection --> hepatitis A virus infection
  • MONDO:0008608 down syndrome --> Down syndrome
  • MONDO:0008893 c syndrome --> C syndrome
  • MONDO:0009168 fowler syndrome --> Fowler syndrome
  • MONDO:0009320 hall-Riggs syndrome --> Hall-Riggs syndrome
  • MONDO:0010621 child syndrome --> CHILD syndrome
  • MONDO:0011071 hereditary thrombocytopenia with normal platelets-hematological cancer predisposition syndrome --> hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • MONDO:0012495 spondyloepimetaphyseal dysplasia, GeneviC(ve type --> spondyloepimetaphyseal dysplasia, Genevieve type
  • MONDO:0018019 Lead poisoning --> lead poisoning
  • MONDO:0045021 sucrose intolerance disease --> obsolete sucrose intolerance disease
Assets 12
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v2019-09-30

01 Oct 22:14
@cmungall cmungall
v2019-09-30
f1541be
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v2019-09-30
  • revise subclass assertions for hepatisis terms and relabel terms. Addresses #825
  • ntr phrynoderma issue #773
  • add new term MONDO:0100080 sleep disorder and move insomnia (disease)
  • update defs for methylmalonic aciduria and homocystinuria type cblF
  • revise defs for Stickler syndrome type 2 and 3. addresses #808
  • update text def for angle-closure glaucoma #814
  • revise def for MONDO:0004471 bacterial arthritis. Addresses #808
  • revise subclass assertions for hepatisis terms and relabel terms. Addresses #825

New Classes

Obsoletions

None

Renaming

Assets 12
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v2019-08-28

29 Aug 17:04
@cmungall cmungall
v2019-08-28
f55911f
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v2019-08-28

2019-08-28 release

  • remove duplicate synonym from 'immune system disease'. Addresses #749
  • remove superclass assertion for 'sensory system disease'. Addresses #747
  • remove synonym from MONDO_0001071. Addresses #739
  • Making UMLSs not found in medgen disease subset
  • Adding equivalencies, see https://github.com/monarch-initiative/mondo/issues/796
  • revise definition for MONDO_0100082. addresses #713
  • add back dbxef and mark equivalentObsolete for MONDO_0005590. Closes #777
  • add sublcassOf to Noonan syndrome and remove subclassOf, add excludedSubclassOf. Addresses #606
  • ntr refeeding syndrome issue #770
  • add new term MONDO_0100082 LEOPARD syndrome 1, addresses #713
  • fix typo in def of MONDO:0009079, addresses #655
  • revise def of MONDO:0009079, addresses #655
  • revised equiv axioms for 'abdominal tuberculosis', 'eye allergy' and 'gastrointestinal tuberculosis'. Addresses #653
  • change synonyms from exact to broad for MONDO_0005590. Addresses #777
  • change dbxref for synonym for MONDO_0011581. Addresses #577

New Classes

Assets 12
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August release

29 Jul 14:32
@cmungall cmungall
v2019-07-28
e61ba18
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August release

2019-07-28 release

  • renamed MONDO_0013308, added text def, revised superclass. Closes #623
  • add exclude annotatioin to synonym on 'infectious disease'. closes #750
  • remove synonyms from 'infectious disease'. addresses #750
  • remove 'root caused synonym from MONDO_0005550. addresses #750
  • ordo xrefs
  • Adding new ordo xrefs
  • add new term MONDO:0100079 cardioectodermal syndrome. Closes #577
  • rename term MONDO:0011581. addresses #577
  • COFS syn AP fixes #761
  • hgnc xref fixes
  • add jenny's orcid. Addresses #735
  • revise label for MONDO:0009607. Closes #735

New Classes

Obsoletions

Renaming

  • MONDO:0001032 Mooren's ulcer --> Mooren ulcer
  • MONDO:0007253 cancer, familial, with 1N vitro Radioresistance --> cancer, familial, with in vitro Radioresistance
  • MONDO:0007431 dens 1N dente and palatal invaginations --> dens in dente and palatal invaginations
  • MONDO:0007643 gamma-A-globulin, defect 1N assembly of --> gamma-A-globulin, defect in assembly of
  • MONDO:0007913 low density lipoprotein, variation 1N molecular weight of --> low density lipoprotein, variation in molecular weight of
  • MONDO:0008088 neuropathy, with paraprotein 1N serum, cerebrospinal fluid and urine --> neuropathy, with paraprotein in serum, cerebrospinal fluid and urine
  • MONDO:0008326 pseudocholinesterase, increase 1N plasma level of --> pseudocholinesterase, increase in plasma level of
  • MONDO:0008790 anemia, nonspherocytic hemolytic, possibly due to defect 1N porphyrin metabolism --> anemia, nonspherocytic hemolytic, possibly due to defect in porphyrin metabolism
  • MONDO:0009307 granulomatous disease with defect 1N neutrophil chemotaxis --> granulomatous disease with defect in neutrophil chemotaxis
  • MONDO:0009389 hyperlysinemia due to defect 1N lysine transport into mitochondria --> hyperlysinemia due to defect in lysine transport into mitochondria
  • MONDO:0009391 hypermetabolism due to defect 1N mitochondria --> hypermetabolism due to defect in mitochondria
  • MONDO:0009436 hypothalamic hamartomas --> congenital hypothalamic hamartoma syndrome
  • MONDO:0009457 immunoglobulin d level 1N plasma, low --> immunoglobulin d level in plasma, low
  • MONDO:0009607 brain demyelination due to methionine adenosyltransferase deficiency --> methionine adenosyltransferase deficiency
  • MONDO:0009638 mitochondrial myopathy with a defect 1N mitochondrial-protein transport --> mitochondrial myopathy with a defect in mitochondrial-protein transport
  • MONDO:0009776 SPGF1 --> spermatogenic failure 1
  • MONDO:0010276 radioulnar synostosis, radial ray abnormalities, and severe malformations 1N the male --> radioulnar synostosis, radial ray abnormalities, and severe malformations in the male
  • MONDO:0010381 Tn Polyagglutination syndrome --> Tn polyagglutination syndrome
  • MONDO:0010507 Xq25 duplication syndrome --> Xq25 microduplication syndrome
  • MONDO:0010962 palmoplantar keratoderma, nonepidermolytic --> diffuse nonepidermolytic palmoplantar keratoderma
  • MONDO:0010982 ichthyosis-mental retardation syndrome with large keratohyalin granules 1N the skin --> ichthyosis-mental retardation syndrome with large keratohyalin granules in the skin
  • MONDO:0011111 horns 1N sheep --> horns in sheep
  • MONDO:0011141 folate level 1N erythrocytes --> folate level in erythrocytes
  • MONDO:0011310 long chain fatty acids, defect 1N transport of --> long chain fatty acids, defect in transport of
  • MONDO:0011581 dilated cardiomyopathy with woolly hair and keratoderma --> arrhythmogenic cardiomyopathy with woolly hair and keratoderma
  • MONDO:0013308 Noonan syndrome-like disorder with juvenile myelomonocytic leukemia --> CBL-related disorder
  • MONDO:0014263 Verheij syndrome --> 8q24.3 microdeletion syndrome
  • MONDO:0014869 hydrops, lactic acidosis, and sideroblastic anemia --> hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome
  • MONDO:0014975 spastic paraplegia 78, autosomal recessive --> autosomal recessive spastic paraplegia type 78
  • MONDO:0015006 epidermolysis bullosa simplex, generalized, with scarring and hair loss --> generalized basal epidermolysis bullosa simplex with skin atrophy, scarring and hair loss
  • MONDO:0019183 rare genetic odontologic disease --> inherited odontologic disease
  • MONDO:0023204 Fukuda Miyanomae Nakata syndrome --> Fukuda-Miyanomae-Nakata syndrome
  • MONDO:0029132 liddle syndrome 3 --> Liddle syndrome 3
  • MONDO:0044304 hyperphenylalaninemia, mild, non-bh4-deficient --> hyperphenylalaninemia due to DNAJC12 deficiency
Assets 12
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July 2019 Release

30 Jun 20:30
@cmungall cmungall
v2019-06-29
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July 2019 Release

2019-06-29 release

  • removed xref on 'osteopetrosis (disease)'. Closes #746
  • add synonym to 'oculocutaneous albinism'. Addresses # 641
  • update definition for 'inflammatory disease'.
  • fix typo. Closes #698
  • #708 removed synonym from MONDO:0009054 and added it to MONDO_0013751.
  • remove comment, closes #82
  • add new term MONDO_0100078 'resistant hypertension'. closes #673
  • fixed typo in MONDO:0002149. Closes #725
  • removed synonym from MONDO:0009054 and added it to MONDO_0013751. Closes #70
  • update definition for 'inflammatory disease'. Closes #717

New Classes

Renaming

Assets 5
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