# arrhythmogenic right ventricular dysplasia 5

> arrhythmogenic right ventricular dysplasia that has material basis in heterozygous mutation in the TMEM43 gene on chromosome 3p25

**Wikidata**: [Q27164439](https://www.wikidata.org/wiki/Q27164439)  
**Source**: https://4ort.xyz/entity/arrhythmogenic-right-ventricular-dysplasia-5


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene
5. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/675dc788-9749-413f-93ce-8c1fc3adbe84--2018-10-26T16:00:00)
6. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_675dc788-9749-413f-93ce-8c1fc3adbe84-2018-10-26T160000.000Z)
7. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000170876/MONDO_0011459)
8. [Identifiers.org](https://registry.identifiers.org/registry/doid)