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Nomenclature update to leukoencephalopathy with variable cortical brain malformations and/or hydrocephalus
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src/ontology/doid-edit.owl

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@@ -104494,14 +104494,15 @@ AnnotationAssertion(rdfs:label obo:DOID_0112229 "lissencephaly 10")
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SubClassOf(obo:DOID_0112229 obo:DOID_0050453)
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SubClassOf(obo:DOID_0112229 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
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# Class: obo:DOID_0112230 (lissencephaly 5)
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# Class: obo:DOID_0112230 (leukoencephalopathy with variable cortical brain malformations and/or hydrocephalus)
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AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/23472759/") Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/25925986/") obo:IAO_0000115 obo:DOID_0112230 "A lissencephaly characterized by hydrocephalus, seizures, severely delayed psychomotor development, and cobblestone changes in the cortex, more severe in the posterior region, and subcortical band heterotopia that has_material_basis_in homozygous or compound heterozygous mutation in the LAMB1 gene on chromosome 7q31.1.")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0112230 "MIM:615191")
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AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0112230 "LIS5")
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AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0112230 "lissencephaly 5")
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AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0112230 "disease_ontology")
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AnnotationAssertion(oboInOwl:id obo:DOID_0112230 "DOID:0112230")
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AnnotationAssertion(rdfs:label obo:DOID_0112230 "lissencephaly 5")
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AnnotationAssertion(rdfs:label obo:DOID_0112230 "leukoencephalopathy with variable cortical brain malformations and/or hydrocephalus")
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SubClassOf(obo:DOID_0112230 obo:DOID_0050453)
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SubClassOf(obo:DOID_0112230 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
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