Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Familial hypertrophic cardiomyopathy
Synonyms	Familial hypertrophic obstructive cardiomyopathy Familial hypertrophic subaortic stenosis
ID	http://www.limics.org/hrdo/rdfns#pat_id_14312
altLabel	Familial hypertrophic obstructive cardiomyopathy Familial hypertrophic subaortic stenosis
id_MeSH	D024741
id_Orpha	99739
id_UMLS	C0949658
inheritance	Autosomal dominant
patType	group of phenomes
prefixIRI	hrdo:pat_id_14312
prefLabel	Familial hypertrophic cardiomyopathy
subClassOf	http://www.limics.org/hrdo/rdfns#pat_id_13072 http://www.limics.org/hrdo/rdfns#pat_id_18864

Delete	Subject	Author	Type	Created
No notes to display

Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0024573	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0024573	CCONT	LOOM
http://purl.obolibrary.org/obo/MONDO_0024573	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0024573	DOVES	LOOM
http://purl.obolibrary.org/obo/MONDO_0024573	KTAO	LOOM
http://purl.obolibrary.org/obo/DOID_0080326	DOID	LOOM
http://purl.obolibrary.org/obo/DOID_0080326	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_0080326	DDSS	LOOM
http://purl.obolibrary.org/obo/DOID_0080326	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_0080326	MIDO	LOOM
http://purl.obolibrary.org/obo/DOID_0080326	FNS-H	LOOM
http://purl.obolibrary.org/obo/NCIT_C84773	BERO	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Familial_Hypertrophic_Cardiomyopathy	CSEO	LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_11986	NATPRO	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84773	NCIT	LOOM