arrhythmogenic right ventricular dysplasia 5
Go to external page http://purl.obolibrary.org/obo/MONDO_0011459
Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the TMEM43 gene. [ MONDO:patterns/disease_series_by_gene ]
Synonyms: familial arrhythmogenic right ventricular dysplasia 5 arrhythmogenic right ventricular dysplasia 5 TMEM43 arrhythmogenic right ventricular cardiomyopathy arrhythmogenic right ventricular cardiomyopathy 5 arrhythmogenic right ventricular dysplasia, familial, type 5 arrhythmogenic right ventricular dysplasia type 5 ARVD5 arrhythmogenic right ventricular cardiomyopathy caused by mutation in TMEM43 ARVC5
Term information
- DOID:0110074 (MONDO:equivalentTo)
- UMLS:C1858379 (OMIM:604400)
- MESH:C565776 (MONDO:equivalentTo)
- OMIM:604400 (MONDO:equivalentTo)
rare, nord_rare, clingen
http://linkedlifedata.com/resource/umls/id/C1858379
http://purl.obolibrary.org/obo/DOID_0110074
http://identifiers.org/mesh/C565776
https://omim.org/entry/604400