diff --git a/src/ontology/doid-edit.owl b/src/ontology/doid-edit.owl index 22153be6..09473c38 100644 --- 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)