Arrhythmogenic right ventricular dysplasia, familial, 9

Preferred Label : Arrhythmogenic right ventricular dysplasia, familial, 9;

Symbol : ARVD9;

CISMeF acronym : ARVC9; ARVD9;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Arrhythmogenic right ventricular cardiomyopathy 9; ARVC9;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the plakophilin-2 gene (602861.0001);

Prefixed ID : #609040;

Details

Origin ID

609040;

UMLS CUI

C1836906;

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 9 [NCIt concept]
- arrhythmogenic right ventricular dysplasia 9 [DO Concept]
- arrhythmogenic right ventricular dysplasia, familial, 9 [MeSH concept]
- arrhythmogenic right ventricular dysplasia, familial, 9 [MeSH Supplementary Concept]
DO Cross reference
- arrhythmogenic right ventricular dysplasia 9 [DO Concept]
Genes related to phenotype
- Plakophilin 2 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Dilatation of the ventricular cavity [HPO term]
- Palpitations [HPO term]
- Right ventricular cardiomyopathy [HPO term]
- Sudden cardiac death [HPO term]
- Syncope [HPO term]
- Vascular dilatation [HPO term]
- Ventricular arrhythmia [HPO term]
ORDO concept(s)
- Familial isolated arrhythmogenic right ventricular dysplasia [ORDO Disease]
See also inter- (CISMeF)
- PKP2 wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial Arrhythmogenic Right Ventricular Dysplasia 9 [NCIt concept]
- arrhythmogenic right ventricular dysplasia, familial, 9 [MeSH Supplementary Concept]
- arrhythmogenic right ventricular dysplasia, familial, 9 [MeSH concept]

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