Arrhythmogenic right ventricular dysplasia, familial, 11

Preferred Label : Arrhythmogenic right ventricular dysplasia, familial, 11;

Symbol : ARVD11;

CISMeF acronym : ARVC11; ARVD11;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Arrhythmogenic right ventricular cardiomyopathy 11; ARVC11;

Included titles and symbols : Arrhythmogenic right ventricular dysplasia, familial, 11, and mild palmoplantar keratoderma with or without woolly hair;

Inheritance : Autosomal dominant; Autosomal recessive;

Molecular basis : Caused by mutation in the desmocollin 2 gene (DSC2, 125645.0001);

Prefixed ID : #610476;

Détails

Origin ID

610476;

UMLS CUI

C1864850;

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 11 [DO Concept]
- arrhythmogenic right ventricular dysplasia, familial, 11 [MeSH concept]
- arrhythmogenic right ventricular dysplasia, familial, 11 [MeSH Supplementary Concept]
DO Cross reference
- arrhythmogenic right ventricular dysplasia 11 [DO Concept]
Genes related to phenotype
- Desmocollin 2 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Dyspnea [HPO term]
- Palmoplantar keratoderma [HPO term]
- Palpitations [HPO term]
- Premature sudden cardiac death [HPO term]
- Right ventricular cardiomyopathy [HPO term]
- Sudden cardiac death [HPO term]
- Syncope [HPO term]
- Ventricular arrhythmia [HPO term]
- Woolly hair [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, 11 [MeSH Supplementary Concept]
- arrhythmogenic right ventricular dysplasia, familial, 11 [MeSH concept]

Position du mot-clé dans l'(les) arborescence(s) :

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