# Charcot-Marie-Tooth disease X-linked dominant 1

> Charcot-Marie-Tooth disease X-linked that has material basis in hemizygous or heterozygous mutation in the GJB1 gene on chromosome Xq13

**Wikidata**: [Q27677673](https://www.wikidata.org/wiki/Q27677673)  
**Source**: https://4ort.xyz/entity/charcot-marie-tooth-disease-x-linked-dominant-1


## References

1. Disease Ontology
2. Connexin mutations in X-linked Charcot-Marie-Tooth disease
3. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000169562/Orphanet_101075)
4. [Identifiers.org](https://registry.identifiers.org/registry/doid)
5. UMLS 2023