Familial Arrhythmogenic Right Ventricular Dysplasia 13

Preferred Label : Familial Arrhythmogenic Right Ventricular Dysplasia 13;

NCIt synonyms : ARVD13;

NCIt definition : An autosomal dominant subtype of arrhythmogenic right ventricular dysplasia caused by mutation(s) in the CTNNA3 gene, encoding catenin alpha-3.;

Details

Origin ID

C176008;

UMLS CUI

C3810138;

Currated CISMeF NLP mapping
- Arrhythmogenic right ventricular dysplasia, familial, 13 [OMIM Phenotype]
- arrhythmogenic right ventricular dysplasia 13 [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Arrhythmogenic right ventricular dysplasia, familial, 13 [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- CTNNA3 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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