Arrhythmogenic right ventricular dysplasia, familial, 5

Preferred Label : Arrhythmogenic right ventricular dysplasia, familial, 5;

Symbol : ARVD5;

CISMeF acronym : ARVC5; ARVD5;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : ARVC5; Arrhythmogenic right ventricular cardiomyopathy 5;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the transmembrane protein-43 gene (TMEM43, 612048.0001);

Prefixed ID : #604400;

Details

Origin ID

604400;

UMLS CUI

C1858379;

Automatic exact mappings (from CISMeF team)
- Familial isolated arrhythmogenic right ventricular dysplasia [ORDO Disease]
- TMEM43 wt Allele [NCIt concept]
Broader ORDO disease(s)
- Arrhythmogenic right ventricular cardiomyopathy [ORDO Disease]
CISMeF manual mappings
- arrhythmogenic right ventricular cardiomyopathy type 5 [Disease (Nov.)]
Currated CISMeF NLP mapping
- Familial Arrhythmogenic Right Ventricular Dysplasia 5 [NCIt concept]
- arrhythmogenic right ventricular dysplasia 5 [DO Concept]
- arrhythmogenic right ventricular dysplasia, familial, 5 [MeSH concept]
- arrhythmogenic right ventricular dysplasia, familial, 5 [MeSH Supplementary Concept]
DO Cross reference
- arrhythmogenic right ventricular dysplasia 5 [DO Concept]
Genes related to phenotype
- Transmembrane protein 43 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Chest pain [HPO term]
- Congestive heart failure [HPO term]
- Dyskinesia [HPO term]
- Palpitations [HPO term]
- Premature ventricular contraction [HPO term]
- Presyncope [HPO term]
- Prolonged QRS complex [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]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial Arrhythmogenic Right Ventricular Dysplasia 5 [NCIt concept]
- arrhythmogenic right ventricular cardiomyopathy type 5 [Disease (Nov.)]
- arrhythmogenic right ventricular dysplasia 5 [DO Concept]
- arrhythmogenic right ventricular dysplasia, familial, 5 [MeSH Supplementary Concept]
- arrhythmogenic right ventricular dysplasia, familial, 5 [MeSH concept]

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