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updating synonyms based on changes in OMIM for DOID:0080234, DOID:006…
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…0824, DOID:0070192, DOID:0070191, DOID:0070194, DOID:0070193, DOID:0110541, DOID:0090124, DOID:0070277
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@sbello
sbello committed Aug 10, 2020
1 parent 36a3a6a commit 2cb4ddc
Showing 1 changed file with 15 additions and 2 deletions.
17 changes: 15 additions & 2 deletions src/ontology/doid-edit.owl
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Original file line number Diff line number Diff line change
Expand Up @@ -36864,6 +36864,7 @@ AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060824 "ICD10CM:Q87.8"^^xsd:str
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060824 "OMIM:300799"^^xsd:string)
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060824 "ORDO:163953"^^xsd:string)
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060824 "MRXSR"@en)
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060824 "X-linked syndromic intellectual developmental disorder Raymond type"^^xsd:string)
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060824 "mental retardation, X-linked syndromic, Raymond type"@en)
AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0060824 "disease_ontology"^^xsd:string)
AnnotationAssertion(oboInOwl:id obo:DOID_0060824 "DOID:0060824"^^xsd:string)
Expand Down Expand Up @@ -40240,6 +40241,7 @@ AnnotationAssertion(owl:deprecated obo:DOID_0070190 "true"^^xsd:boolean)
AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/7795241"^^xsd:string) obo:IAO_0000115 obo:DOID_0070191 "A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the NCF2 gene on chromosome 1q25."^^xsd:string)
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070191 "OMIM:233710"^^xsd:string)
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070191 "CDG2"@en)
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070191 "autosomal recessive chronic granulomatous disease 2"^^xsd:string)
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070191 "chronic granulomatous disease due to deficiency of NCF-2"@en)
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070191 "deficiency of NCF2"@en)
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070191 "deficiency of p67-PHOX"@en)
Expand All @@ -40254,6 +40256,7 @@ SubClassOf(obo:DOID_0070191 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_000014
AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/2770793"^^xsd:string) obo:IAO_0000115 obo:DOID_0070192 "A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the NCF1 gene on chromosome 7q11.23."^^xsd:string)
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070192 "OMIM:233700"^^xsd:string)
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070192 "CDG1"@en)
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070192 "autosomal recessive chronic granulomatous disease 1"^^xsd:string)
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070192 "chronic granulomatous disease due to deficiency of NCF-1"@en)
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070192 "deficiency of NCF1"@en)
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070192 "deficiency of SOC2"@en)
Expand All @@ -40272,6 +40275,7 @@ AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasD
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070193 "OMIM:233690"^^xsd:string)
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070193 "CGD due to deficiency of the alpha subunit of cytochrome b"@en)
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070193 "CYBA deficiency"@en)
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070193 "autosomal recessive chronic granulomatous disease 4"^^xsd:string)
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070193 "autosomal recessive cytochrome b-negative CGD"@en)
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070193 "chronic granulomatous disease due to deficiency of CYBA"@en)
AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0070193 "disease_ontology"^^xsd:string)
Expand All @@ -40285,6 +40289,7 @@ SubClassOf(obo:DOID_0070193 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_000014
AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19692703"^^xsd:string) obo:IAO_0000115 obo:DOID_0070194 "A chronic granulomatous disease characterized by that autosomal recessive inheritance has_material_basis_in mutation in the NCF4 gene on chromosome 22q12."^^xsd:string)
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070194 "OMIM:613960"^^xsd:string)
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070194 "CDG3"@en)
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070194 "autosomal recessive chronic granulomatous disease 3"^^xsd:string)
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070194 "autosomal recessive cytochrome b-positive CGD type III"@en)
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070194 "chronic granulomatous disease due to NCF4 deficiency"@en)
AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0070194 "disease_ontology"^^xsd:string)
Expand Down Expand Up @@ -45031,13 +45036,18 @@ AnnotationAssertion(oboInOwl:id obo:DOID_0080233 "DOID:0080233"^^xsd:string)
AnnotationAssertion(rdfs:label obo:DOID_0080233 "autosomal dominant mental retardation 50"@en)
SubClassOf(obo:DOID_0080233 obo:DOID_0060307)

# Class: obo:DOID_0080234 (autosomal dominant mental retardation 49)
# Class: obo:DOID_0080234 (Clark-Baraitser syndrome)

AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/27848077/") obo:IAO_0000115 obo:DOID_0080234 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in heterozygous mutation in the TRIP12 gene on chromosome 2q36.")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0080234 "GARD:13584"^^xsd:string)
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0080234 "OMIM:617752"^^xsd:string)
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0080234 "Baraitser syndrome"^^xsd:string)
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0080234 "CLABARS"^^xsd:string)
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0080234 "autosomal dominant intellectual disability 49"^^xsd:string)
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0080234 "autosomal dominant mental retardation 49"^^xsd:string)
AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0080234 "disease_ontology"^^xsd:string)
AnnotationAssertion(oboInOwl:id obo:DOID_0080234 "DOID:0080234"^^xsd:string)
AnnotationAssertion(rdfs:label obo:DOID_0080234 "autosomal dominant mental retardation 49"@en)
AnnotationAssertion(rdfs:label obo:DOID_0080234 "Clark-Baraitser syndrome"@en)
SubClassOf(obo:DOID_0080234 obo:DOID_0060307)

# Class: obo:DOID_0080235 (autosomal dominant mental retardation 48)
Expand Down Expand Up @@ -51434,7 +51444,9 @@ AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0090124 "ORDO:1143"^^xsd:string)
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0090124 "SNOMEDCT_US_2019_09_01:715316005"^^xsd:string)
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0090124 "UMLS_CUI:C1859721"^^xsd:string)
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0090124 "AMC neurogenic type"@en)
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0090124 "AMC2"^^xsd:string)
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0090124 "AMCN"@en)
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0090124 "arthrogryposis multiplex congenita 2, neurogenic type"^^xsd:string)
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0090124 "arthrogryposis multiplex congenita neurogenic type"@en)
AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0090124 "disease_ontology"^^xsd:string)
AnnotationAssertion(oboInOwl:id obo:DOID_0090124 "DOID:0090124"^^xsd:string)
Expand Down Expand Up @@ -58788,6 +58800,7 @@ AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0110541 "DFNA1"@en)
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0110541 "Konigsmark syndrome"@en)
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0110541 "LFHL1"@en)
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0110541 "autosomal dominant deafness 1"@en)
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0110541 "autosomal dominant deafness 1, with or without thrombocytopenia"^^xsd:string)
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0110541 "hereditary low frequency hearing loss 1"@en)
AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0110541 "disease_ontology"^^xsd:string)
AnnotationAssertion(oboInOwl:id obo:DOID_0110541 "DOID:0110541"^^xsd:string)
Expand Down

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