# Charcot-Marie-Tooth disease type 1E

> Charcot-Marie-Tooth disease type 1 that has material basis in autosomal dominant mutation in the peripheral myelin protein-22 gene (PMP22)

**Wikidata**: [Q27677646](https://www.wikidata.org/wiki/Q27677646)  
**Source**: https://4ort.xyz/entity/charcot-marie-tooth-disease-type-1e


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000109099/MONDO_0007311)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)