# Charcot-Marie-Tooth disease type 4B1

> Charcot-Marie-Tooth disease type 4 that has material basis in mutation in the gene encoding the myotubularin-related protein-2 (MTMR2)

**Wikidata**: [Q27677653](https://www.wikidata.org/wiki/Q27677653)  
**Source**: https://4ort.xyz/entity/charcot-marie-tooth-disease-type-4b1


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2.
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000087053/MONDO_0011066)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)