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Update syndromic microphthalmia 2
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src/ontology/doid-edit.owl

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@@ -96937,7 +96937,7 @@ SubClassOf(obo:DOID_0111808 ObjectSomeValuesFrom(obo:RO_0004019 obo:HP_0001197))
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# Class: obo:DOID_0111809 (syndromic microphthalmia 2)
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AnnotationAssertion(Annotation(dc:type obo:ECO_0007636) Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/oculofaciocardiodental-syndrome") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15004558") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8723122") obo:IAO_0000115 obo:DOID_0111809 "A syndromic microphthalmia characterized by dental radiculomegaly, congenital cataract, microphthalmia, facial dismorphism and congenital heart disease that has_material_basis_in heterozygous mutation in the BCOR gene on chromosome Xp11.4.")
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AnnotationAssertion(Annotation(dc:type obo:ECO_0007636) Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/oculofaciocardiodental-syndrome") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15004558") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8723122") Annotation(rdfs:comment "url:https://pubmed.ncbi.nlm.nih.gov/19367324/") obo:IAO_0000115 obo:DOID_0111809 "A syndromic microphthalmia characterized by ocular defects including microphthalmia, microcornea, and congentital cataract; facial dysmorphism including septate nasal cartilage with high nasal bridge; congenital heart defects, most commonly a septal defect; and dental anomalies, most commonly persistent primary teeth and radiculomegaly that has_material_basis_in mutation in the BCL6 corepressor gene on chromosome Xp11.")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0111809 "GARD:4628")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0111809 "MESH:C537465")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0111809 "MIM:300166")

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