Add craniosynostosis 4

Issue #1408
DiseaseOntology · Nov 12, 2024 · 41e8bc7 · 41e8bc7
1 parent f9069bb
commit 41e8bc7
Showing 1 changed file with 13 additions and 1 deletion.
diff --git a/src/ontology/doid-edit.owl b/src/ontology/doid-edit.owl
@@ -1988,6 +1988,7 @@ Declaration(Class(obo:DOID_0061008))
 Declaration(Class(obo:DOID_0061009))
 Declaration(Class(obo:DOID_0061010))
 Declaration(Class(obo:DOID_0061011))
+Declaration(Class(obo:DOID_0061012))
 Declaration(Class(obo:DOID_0070000))
 Declaration(Class(obo:DOID_0070001))
 Declaration(Class(obo:DOID_0070002))
@@ -41939,6 +41940,18 @@ AnnotationAssertion(rdfs:label obo:DOID_0061011 "craniosynostosis 3"@en)
 SubClassOf(obo:DOID_0061011 obo:DOID_2340)
 SubClassOf(obo:DOID_0061011 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
 
+# Class: obo:DOID_0061012 (craniosynostosis 4)
+
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/23438589/") obo:IAO_0000115 obo:DOID_0061012 "A craniosynostosis that has_material_basis_in heterozygous mutation in the ERF gene on chromosome 19q13."@en)
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061012 "MIM:600775")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061012 "ORDO:647681")
+AnnotationAssertion(Annotation(rdfs:comment obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0061012 "CRS4"@en)
+AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0061012 "disease_ontology")
+AnnotationAssertion(oboInOwl:id obo:DOID_0061012 "DOID:0061012")
+AnnotationAssertion(rdfs:label obo:DOID_0061012 "craniosynostosis 4"@en)
+SubClassOf(obo:DOID_0061012 obo:DOID_2340)
+SubClassOf(obo:DOID_0061012 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)
@@ -144343,7 +144356,6 @@ AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_2340 "ICD10CM:Q75.0")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_2340 "MESH:D003398")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_2340 "MIM:182212")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_2340 "MIM:600593")
-AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_2340 "MIM:600775")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_2340 "NCI:C84655")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_2340 "ORDO:1531")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_2340 "SNOMEDCT_US_2023_03_01:205414007")