From d429d4ff787f06bde1d4918b0615680ead48853a Mon Sep 17 00:00:00 2001 From: "J. Allen Baron" Date: Thu, 28 Sep 2023 14:52:33 -0400 Subject: [PATCH] Add 'Yoon-Bellen neurodevelopmental syndrome' (DOID:0070468) Closes #1166 --- src/ontology/doid-edit.owl | 13 +++++++++++++ 1 file changed, 13 insertions(+) diff --git a/src/ontology/doid-edit.owl b/src/ontology/doid-edit.owl index c725d24a0..335ce27f8 100644 --- a/src/ontology/doid-edit.owl +++ b/src/ontology/doid-edit.owl @@ -2356,6 +2356,7 @@ Declaration(Class(obo:DOID_0070464)) Declaration(Class(obo:DOID_0070465)) Declaration(Class(obo:DOID_0070466)) Declaration(Class(obo:DOID_0070467)) +Declaration(Class(obo:DOID_0070468)) Declaration(Class(obo:DOID_0070469)) Declaration(Class(obo:DOID_0080000)) Declaration(Class(obo:DOID_0080001)) @@ -46278,6 +46279,18 @@ AnnotationAssertion(rdfs:label obo:DOID_0070467 "carpal tunnel syndrome 2"@en) SubClassOf(obo:DOID_0070467 obo:DOID_12169) SubClassOf(obo:DOID_0070467 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147)) +# Class: obo:DOID_0070468 (Yoon-Bellen neurodevelopmental syndrome) + +AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/28017472/") Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/34800363/") obo:IAO_0000115 obo:DOID_0070468 "A syndrome characterized by onset in the first decade of highly variable neurodevelopmental phenotypes including global developmental delay, intellectual disability, seizures, hearing and visual problems, and ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the OGDHL gene on chromosome 10q11.23.") +AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070468 "OMIM:619701") +AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070468 "YOBELN") +AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0070468 "disease_ontology") +AnnotationAssertion(oboInOwl:id obo:DOID_0070468 "DOID:0070468") +AnnotationAssertion(rdfs:label obo:DOID_0070468 "Yoon-Bellen neurodevelopmental syndrome"@en) +AnnotationAssertion(skos:exactMatch obo:DOID_0070468 "OMIM:619701") +SubClassOf(obo:DOID_0070468 obo:DOID_225) +SubClassOf(obo:DOID_0070468 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148)) + # Class: obo:DOID_0070469 (neurodevelopmental disorder with dysmorphic facies and thin corpus callosum) AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/31924697/") Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/36255738/") obo:IAO_0000115 obo:DOID_0070469 "An autosomal dominant intellectual developmental disorder characterized by global developmental delay, impaired intellectual development with poor or absent speech and language, dysmorphic facial features, and corpus callosum abnormalities that has_material_basis_in heterozygous mutation in the SUPT16H gene on chromosome 14q11.2.")