Arrhythmogenic right ventricular dysplasia, familial, 8

Preferred Label : Arrhythmogenic right ventricular dysplasia, familial, 8;

Symbol : ARVD8;

CISMeF acronym : ARVC8; ARVD8;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Arrhythmogenic right ventricular cardiomyopathy 8; ARVC8;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the desmoplakin gene (DSP, 125647.0003);

Prefixed ID : #607450;

Details

Origin ID

607450;

UMLS CUI

C1843896;

Automatic exact mappings (from CISMeF team)
- Familial isolated arrhythmogenic right ventricular dysplasia [ORDO Disease]
Broader ORDO disease(s)
- Arrhythmogenic right ventricular cardiomyopathy [ORDO Disease]
Currated CISMeF NLP mapping
- arrhythmogenic right ventricular dysplasia 8 [DO Concept]
- arrhythmogenic right ventricular dysplasia, familial, 8 [MeSH concept]
- arrhythmogenic right ventricular dysplasia, familial, 8 [MeSH Supplementary Concept]
DO Cross reference
- arrhythmogenic right ventricular dysplasia 8 [DO Concept]
Genes related to phenotype
- Desmoplakin [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Congestive heart failure [HPO term]
- Heterogeneous [HPO term]
- Premature ventricular contraction [HPO term]
- Right ventricular cardiomyopathy [HPO term]
- Sudden cardiac death [HPO term]
- Ventricular fibrillation [HPO term]
- Ventricular tachycardia [HPO term]
ORDO concept(s)
- Familial isolated arrhythmogenic right ventricular dysplasia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- arrhythmogenic right ventricular dysplasia, familial, 8 [MeSH Supplementary Concept]
- arrhythmogenic right ventricular dysplasia, familial, 8 [MeSH concept]

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