From 2cb4ddc279c52a4a348b618aa298b664b6ea6694 Mon Sep 17 00:00:00 2001 From: suebello Date: Mon, 10 Aug 2020 11:29:45 -0400 Subject: [PATCH] updating synonyms based on changes in OMIM for DOID:0080234, DOID:0060824, DOID:0070192, DOID:0070191, DOID:0070194, DOID:0070193, DOID:0110541, DOID:0090124, DOID:0070277 --- src/ontology/doid-edit.owl | 17 +++++++++++++++-- 1 file changed, 15 insertions(+), 2 deletions(-) diff --git a/src/ontology/doid-edit.owl b/src/ontology/doid-edit.owl index 1137f1181..ddeb7915c 100644 --- a/src/ontology/doid-edit.owl +++ b/src/ontology/doid-edit.owl @@ -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) @@ -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) @@ -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) @@ -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) @@ -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) @@ -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) @@ -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) @@ -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)