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Add congenital muscular dystrophy with rapid progression
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src/ontology/doid-edit.owl

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@@ -2236,6 +2236,7 @@ Declaration(Class(obo:DOID_0061198))
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Declaration(Class(obo:DOID_0061199))
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Declaration(Class(obo:DOID_0061200))
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Declaration(Class(obo:DOID_0061201))
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Declaration(Class(obo:DOID_0061202))
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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))
@@ -45012,6 +45013,16 @@ AnnotationAssertion(rdfs:label obo:DOID_0061201 "Bethlem myopathy 2")
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SubClassOf(obo:DOID_0061201 obo:DOID_0050663)
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SubClassOf(obo:DOID_0061201 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
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# Class: obo:DOID_0061202 (congenital muscular dystrophy with rapid progression)
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AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/34779586/") obo:IAO_0000115 obo:DOID_0061202 "A congenital muscular dystrophy characterized by hypotonia and poor feeding apparent in infancy, delayed motor development with poor head control and inability to sit or walk, progressive weakness and lethargy, and respiratory insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the BET1 gene on chromosome 7q21.")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061202 "MIM:254100")
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AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0061202 "disease_ontology")
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AnnotationAssertion(oboInOwl:id obo:DOID_0061202 "DOID:0061202")
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AnnotationAssertion(rdfs:label obo:DOID_0061202 "congenital muscular dystrophy with rapid progression")
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SubClassOf(obo:DOID_0061202 obo:DOID_0050663)
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SubClassOf(obo:DOID_0061202 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
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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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