Add craniosynostosis 6

Issue #1408
DiseaseOntology · Nov 12, 2024 · 80e9b49 · 80e9b49
1 parent 4193453
commit 80e9b49
Showing 1 changed file with 12 additions and 0 deletions.
diff --git a/src/ontology/doid-edit.owl b/src/ontology/doid-edit.owl
@@ -1984,6 +1984,7 @@ Declaration(Class(obo:DOID_0061004))
 Declaration(Class(obo:DOID_0061005))
 Declaration(Class(obo:DOID_0061006))
 Declaration(Class(obo:DOID_0061007))
+Declaration(Class(obo:DOID_0061008))
 Declaration(Class(obo:DOID_0070000))
 Declaration(Class(obo:DOID_0070001))
 Declaration(Class(obo:DOID_0070002))
@@ -41886,6 +41887,17 @@ AnnotationAssertion(rdfs:label obo:DOID_0061007 "sideroblastic anemia 5"@en)
 SubClassOf(obo:DOID_0061007 obo:DOID_8955)
 SubClassOf(obo:DOID_0061007 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
 
+# Class: obo:DOID_0061008 (craniosynostosis 6)
+
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/26340333/") obo:IAO_0000115 obo:DOID_0061008 "A craniosynostosis that has_material_basis_in heterozygous mutation in the ZIC1 gene on chromosome 3q24."@en)
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061008 "MIM:616602")
+AnnotationAssertion(Annotation(rdfs:comment obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0061008 "CRS6"@en)
+AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0061008 "disease_ontology")
+AnnotationAssertion(oboInOwl:id obo:DOID_0061008 "DOID:0061008")
+AnnotationAssertion(rdfs:label obo:DOID_0061008 "craniosynostosis 6"@en)
+SubClassOf(obo:DOID_0061008 obo:DOID_2340)
+SubClassOf(obo:DOID_0061008 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
+
 # Class: obo:DOID_0070000 (3-methylglutaconic aciduria type 8)
 
 AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27208207") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27696117") obo:IAO_0000115 obo:DOID_0070000 "A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the HTRA2 gene on chromosome 2p13."@en)