Add 'Yoon-Bellen neurodevelopmental syndrome' (DOID:0070468)

Closes #1166
DiseaseOntology · Sep 28, 2023 · d429d4f · d429d4f
1 parent f895dd8
commit d429d4f
Showing 1 changed file with 13 additions and 0 deletions.
diff --git 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.")