Preferred Name

Arrhythmogenic right ventricular cardiomyopathy

ID

http://www.orpha.net/ORDO/Orphanet_247

alternative_term

ARVD

Arrhythmogenic right ventricular dysplasia

ARVC

definition

A heart muscle disease that consists in progressive dystrophy of primarily the right ventricular myocardium with fibro-fatty replacement and ventricular dilation, and that is clinically characterized by ventricular arrhythmias and a risk of sudden cardiac death.

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247

has_age_of_onset

Adult

Adolescent

has_inheritance

Autosomal recessive

Autosomal dominant

hasDbXref

ICD-11:BC43.6

MedDRA:10058093

MeSH:D019571

UMLS:C0349788

label

Arrhythmogenic right ventricular cardiomyopathy

notation

ORPHA:247

Clinical group

prefixIRI

ORDO:Orphanet_247

prefLabel

Arrhythmogenic right ventricular cardiomyopathy

present_in

Worldwide AND has_point_prevalence_average_value : 20.0 AND has_point_prevalence_range : 1-5 / 10 000

Italy AND has_point_prevalence_average_value : 43.5 AND has_point_prevalence_range : 1-5 / 10 000

subClassOf

http://www.orpha.net/ORDO/Orphanet_506225

http://www.orpha.net/ORDO/Orphanet_98054

http://www.orpha.net/ORDO/Orphanet_167848

http://www.orpha.net/ORDO/Orphanet_557492

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0016587 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0016587 Experimental Factor Ontology / 实验性因素本体 LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU065590 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM
http://www.orpha.net/ORDO/Orphanet_247 Experimental Factor Ontology / 实验性因素本体 SAME_URI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0349788 MedlinePlus Health Topics / MedlinePlus网站健康主题 LOOM
http://purl.obolibrary.org/obo/DOID_0050431 BioAssay Ontology / 生物活性分析本体 LOOM
http://purl.obolibrary.org/obo/DOID_0050431 Human Disease Ontology / 人类疾病本体 LOOM