Arrhythmogenic right ventricular dysplasia, familial, 10

Preferred Label : Arrhythmogenic right ventricular dysplasia, familial, 10;

Symbol : ARVD10;

CISMeF acronym : ARVC10; ARVD10;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : ARVC10; Arrhythmogenic right ventricular cardiomyopathy 10;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the desmoglein 2 gene (DSG2, 125671.0001);

Prefixed ID : #610193;

Details

Origin ID

610193;

UMLS CUI

C1857777;

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
- Familial Arrhythmogenic Right Ventricular Dysplasia 10 [NCIt concept]
- arrhythmogenic right ventricular dysplasia 10 [DO Concept]
- arrhythmogenic right ventricular dysplasia, familial, 10 [MeSH concept]
- arrhythmogenic right ventricular dysplasia, familial, 10 [MeSH Supplementary Concept]
DO Cross reference
- arrhythmogenic right ventricular dysplasia 10 [DO Concept]
Genes related to phenotype
- Desmoglein 2 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Heterogeneous [HPO term]
- Palpitations [HPO term]
- Premature ventricular contraction [HPO term]
- Right ventricular cardiomyopathy [HPO term]
- Sudden cardiac death [HPO term]
- Ventricular tachycardia [HPO term]
ORDO concept(s)
- Familial isolated arrhythmogenic right ventricular dysplasia [ORDO Disease]
- Familial isolated arrhythmogenic ventricular dysplasia, biventricular form [ORDO Disease]
- Familial isolated arrhythmogenic ventricular dysplasia, left dominant form [ORDO Disease]
- Familial isolated arrhythmogenic ventricular dysplasia, right dominant form [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial Arrhythmogenic Right Ventricular Dysplasia 10 [NCIt concept]
- arrhythmogenic right ventricular dysplasia, familial, 10 [MeSH Supplementary Concept]
- arrhythmogenic right ventricular dysplasia, familial, 10 [MeSH concept]

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