# Charcot-Marie-Tooth disease type 2J

> Charcot-Marie-Tooth disease type 2 characterized by hearing loss and pupillary abnormalities and has material basis in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23

**Wikidata**: [Q27164463](https://www.wikidata.org/wiki/Q27164463)  
**Source**: https://4ort.xyz/entity/charcot-marie-tooth-disease-type-2j


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000158887/MONDO_0011903)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)