# Charcot-Marie-Tooth disease axonal type 2C

> Charcot-Marie-Tooth disease type 2 that has material basis in heterozygous mutation in the TRPV4 gene on chromosome 12q24

**Wikidata**: [Q27164492](https://www.wikidata.org/wiki/Q27164492)  
**Source**: https://4ort.xyz/entity/charcot-marie-tooth-disease-axonal-type-2c


## References

1. Disease Ontology
2. UniProt
3. Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C
4. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000111199/MONDO_0011633)
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000111199/Orphanet_99937)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)
7. Monarch Disease Ontology release 2018-06-29