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Billuart-type X-linked syndromic intellectual developmental disorder nomenclature update
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src/ontology/doid-edit.owl

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@@ -56042,13 +56042,14 @@ AnnotationAssertion(rdfs:label obo:DOID_0080309 "fatal infantile hypertonic myof
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SubClassOf(obo:DOID_0080309 obo:DOID_0080307)
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SubClassOf(obo:DOID_0080309 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
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# Class: obo:DOID_0080311 (X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance)
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# Class: obo:DOID_0080311 (Billuart-type X-linked syndromic intellectual developmental disorder)
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AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16158428") Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/20528889/") obo:IAO_0000115 obo:DOID_0080311 "A syndromic X-linked intellectual disability characterized by moderately to severely impaired intellectual development, cerebellar hypoplasia, and seizures that has_material_basis_in mutation in the oligophrenin-1 gene on chromosome Xq12.")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0080311 "MIM:300486")
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AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0080311 "X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance")
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AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0080311 "disease_ontology")
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AnnotationAssertion(oboInOwl:id obo:DOID_0080311 "DOID:0080311")
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AnnotationAssertion(rdfs:label obo:DOID_0080311 "X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance")
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AnnotationAssertion(rdfs:label obo:DOID_0080311 "Billuart-type X-linked syndromic intellectual developmental disorder")
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SubClassOf(obo:DOID_0080311 obo:DOID_0060309)
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# Class: obo:DOID_0080312 (neurodevelopmental disorder with midbrain and hindbrain malformations)

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