Arrhythmogenic right ventricular dysplasia, familial, 12

Preferred Label : Arrhythmogenic right ventricular dysplasia, familial, 12;

Symbol : ARVD12;

CISMeF acronym : ARVC12; ARVD12;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : ARVC12; Arrhythmogenic right ventricular cardiomyopathy 12;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the junction plakoglobin gene (JUP, 173325.0002).;

Prefixed ID : #611528;

Details

Origin ID

611528;

UMLS CUI

C1969081;

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 12 [DO Concept]
- arrhythmogenic right ventricular dysplasia, familial, 12 [MeSH concept]
- arrhythmogenic right ventricular dysplasia, familial, 12 [MeSH Supplementary Concept]
DO Cross reference
- arrhythmogenic right ventricular dysplasia 12 [DO Concept]
Genes related to phenotype
- Junction plakoglobin [OMIM gene]
HPO term(s)
- Adult onset [HPO term]
- Autosomal dominant inheritance [HPO term]
- Prolonged QRS complex [HPO term]
- Right ventricular cardiomyopathy [HPO term]
- Syncope [HPO term]
- T-wave inversion [HPO term]
- Ventricular arrhythmia [HPO term]
- Ventricular tachycardia [HPO term]
Not associated HPO term(s)
- Palmoplantar keratoderma [HPO term]
- Woolly hair [HPO term]
ORDO concept(s)
- Familial isolated arrhythmogenic right ventricular dysplasia [ORDO Disease]
See also inter- (CISMeF)
- JUP wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- arrhythmogenic right ventricular dysplasia, familial, 12 [MeSH Supplementary Concept]
- arrhythmogenic right ventricular dysplasia, familial, 12 [MeSH concept]

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