# Charcot-Marie-Tooth disease type 2B

> Charcot-Marie-Tooth disease type 2 that has material basis in heterozygous mutation in the RAB7 gene on chromosome 3q21

**Wikidata**: [Q27164465](https://www.wikidata.org/wiki/Q27164465)  
**Source**: https://4ort.xyz/entity/charcot-marie-tooth-disease-type-2b


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Mutations in the Small GTP-ase Late Endosomal Protein RAB7 Cause Charcot-Marie-Tooth Type 2B Neuropathy
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000075785/MONDO_0010949)
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000075785/Orphanet_99936)
7. [Identifiers.org](https://registry.identifiers.org/registry/doid)