Arrhythmogenic right ventricular dysplasia, familial, 14

Preferred Label : Arrhythmogenic right ventricular dysplasia, familial, 14;

Symbol : ARVD14;

CISMeF acronym : ARVD14;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Arrhythmogenic right ventricular cardiomyopathy 14; ARVC14;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the cadherin-2 gene (CDH2, 114020.0001);

Prefixed ID : #618920;

Details

Origin ID

618920;

UMLS CUI

C5394505;

Genes related to phenotype
- Cadherin 2 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Chest pain [HPO term]
- Left bundle branch block [HPO term]
- Palpitations [HPO term]
- Premature ventricular contraction [HPO term]
- Presyncope [HPO term]
- Right ventricular dilatation [HPO term]
- Ventricular tachycardia [HPO term]
ORDO concept(s)
- Familial isolated arrhythmogenic ventricular dysplasia, right dominant form [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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