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Add neurodevelopmental disorder with or without autism or seizures
Issue #1478
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src/ontology/doid-edit.owl

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@@ -2174,6 +2174,7 @@ Declaration(Class(obo:DOID_0061142))
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Declaration(Class(obo:DOID_0061143))
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Declaration(Class(obo:DOID_0061144))
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Declaration(Class(obo:DOID_0061146))
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Declaration(Class(obo:DOID_0061147))
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Declaration(Class(obo:DOID_0070000))
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Declaration(Class(obo:DOID_0070001))
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Declaration(Class(obo:DOID_0070002))
@@ -44154,6 +44155,17 @@ AnnotationAssertion(rdfs:label obo:DOID_0061146 "Pan-Chung-Bellen syndrome")
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SubClassOf(obo:DOID_0061146 obo:DOID_0050888)
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SubClassOf(obo:DOID_0061146 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
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# Class: obo:DOID_0061147 (neurodevelopmental disorder with or without autism or seizures)
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AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/32341456/") obo:IAO_0000115 obo:DOID_0061147 "An autosomal dominant intellectual developmental disorder characterized by global developmental delay apparent in infancy, impaired intellectual development, and speech delay. Some patients develop seizures, and may show regression after onset of seizures that has_material_basis_in heterozygous mutation in the CUL3 gene on chromosome 2q36.")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061147 "MIM:619239")
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AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0061147 "disease_ontology")
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AnnotationAssertion(oboInOwl:id obo:DOID_0061147 "DOID:0061147")
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AnnotationAssertion(rdfs:label obo:DOID_0061147 "neurodevelopmental disorder with or without autism or seizures")
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SubClassOf(obo:DOID_0061147 obo:DOID_0060307)
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SubClassOf(obo:DOID_0061147 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
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SubClassOf(obo:DOID_0061147 ObjectSomeValuesFrom(obo:RO_0004019 obo:SYMP_0000462))
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# Class: obo:DOID_0070000 (3-methylglutaconic aciduria type 8)
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AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27208207") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27696117") obo:IAO_0000115 obo:DOID_0070000 "A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the HTRA2 gene on chromosome 2p13.")

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