Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Arrhythmogenic right ventricular dysplasia
Synonyms	ARVC ARVD Arrhythmogenic right ventricular cardiomyopathy
ID	http://www.limics.org/hrdo/rdfns#pat_id_8591
ageOfOnset	Adulthood
altLabel	ARVC ARVD Arrhythmogenic right ventricular cardiomyopathy
id_MedDRA	10058093
id_Medline	http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Arrhythmogenic+right+ventricular+dysplasia%5Bti%5D+OR+Arrhythmogenic+right+ventricular+dysplasia%5Bmh%5D
id_MeSH	D019571
id_MIM	107970 600996 602086 602087 604400 604401 607450 609040 610193 610476 611528
id_OMS	I42.8
id_Orpha	247
id_SNOMEDCT	253528005 281170005
id_UMLS	C0349788
inheritance	Autosomal dominant
patType	group of phenomes
prefixIRI	hrdo:pat_id_8591
prefLabel	Arrhythmogenic right ventricular dysplasia
prevalence	1-5 / 10 000
subClassOf	http://www.limics.org/hrdo/rdfns#pat_id_13072 http://www.limics.org/hrdo/rdfns#pat_id_17712

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/DOID_0050431	CVDO	LOOM
http://www.orpha.net/ORDO/Orphanet_247	EFO	LOOM
http://purl.jp/bio/4/id/200906030371461208	IOBC	LOOM
http://bmi.utah.edu/ontologies/hfontology/C0349788	HFO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.240.400.145	RH-MESH	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84571	NCIT	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Arrhythmogenic_Right_Ventricular_Dysplasia	CSEO	LOOM
http://purl.bioontology.org/ontology/MESH/D019571	MESH	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/253528005	SNOMEDCT	LOOM
urn:agi-folder:arrhythmogenic_right_ventricular_dysplasia	BPT	LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_0050431	NATPRO	LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU006085	OMIM	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C14.280.238.028	RH-MESH	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10058093	MEDDRA	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C14.280.400.145	RH-MESH	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D019571	RH-MESH	LOOM
http://purl.obolibrary.org/obo/OMIT_0019595	OMIT	LOOM
http://id.nlm.nih.gov/mesh/D019571	MDM	LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036207	PMAPP-PMO	LOOM
http://purl.obolibrary.org/obo/NCIT_C84571	BERO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C14.240.400.145	RH-MESH	LOOM