Add familial restrictive cardiomyopathy 6

Issue #1419
DiseaseOntology · Jan 8, 2025 · a4c265b · a4c265b
1 parent f212adf
commit a4c265b
Showing 1 changed file with 12 additions and 0 deletions.
diff --git a/src/ontology/doid-edit.owl b/src/ontology/doid-edit.owl
@@ -2014,6 +2014,7 @@ Declaration(Class(obo:DOID_0061021))
 Declaration(Class(obo:DOID_0061022))
 Declaration(Class(obo:DOID_0061023))
 Declaration(Class(obo:DOID_0061024))
+Declaration(Class(obo:DOID_0061025))
 Declaration(Class(obo:DOID_0070000))
 Declaration(Class(obo:DOID_0070001))
 Declaration(Class(obo:DOID_0070002))
@@ -42257,6 +42258,17 @@ AnnotationAssertion(rdfs:label obo:DOID_0061024 "nonphotosensitive trichothiodys
 SubClassOf(obo:DOID_0061024 obo:DOID_0111867)
 SubClassOf(obo:DOID_0061024 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
 
+# Class: obo:DOID_0061025 (familial restrictive cardiomyopathy 6)
+
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/29357359/") obo:IAO_0000115 obo:DOID_0061025 "A restrictive cardiomyopathy characterized by prenatal onset of severe restrictive cardiomyopathy predominantly involving the right ventricle, resulting in irreversible heart failure and early death that has_material_basis_in compound heterozygous mutation in the KIF20A gene on chromosome 5q31."@en)
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061025 "MIM:619433")
+AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0061025 "RCM6")
+AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0061025 "disease_ontology")
+AnnotationAssertion(oboInOwl:id obo:DOID_0061025 "DOID:0061025")
+AnnotationAssertion(rdfs:label obo:DOID_0061025 "familial restrictive cardiomyopathy 6"@en)
+SubClassOf(obo:DOID_0061025 obo:DOID_397)
+SubClassOf(obo:DOID_0061025 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
+
 # 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)