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Review congenital myasthenic syndrome 10
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src/ontology/doid-edit.owl

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@@ -80023,7 +80023,7 @@ SubClassOf(obo:DOID_0110667 ObjectSomeValuesFrom(obo:RO_0004019 obo:HP_0001197))
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# Class: obo:DOID_0110668 (congenital myasthenic syndrome 10)
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AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/22884442/") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16917026") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25792100") obo:IAO_0000115 obo:DOID_0110668 "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a postsynaptic defect affecting endplate maintenance of the NMJ and development of limb-girdle weakness in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the DOK7 gene on chromosome 4p16.3.")
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AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/22884442/") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16917026") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25792100") obo:IAO_0000115 obo:DOID_0110668 "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a postsynaptic defect affecting endplate maintenance of the NMJ and development of limb-girdle weakness in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the DOK7 gene on chromosome 4p16.")
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AnnotationAssertion(oboInOwl:hasAlternativeId obo:DOID_0110668 "DOID:0110638")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0110668 "MIM:254300")
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AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0110668 "CMS10")

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