# Charcot-Marie-Tooth disease axonal type 2V

> Charcot-Marie-Tooth disease type 2 that has material basis in heterozygous mutation in the NAGLU gene on chromosome 17q21

**Wikidata**: [Q27164487](https://www.wikidata.org/wiki/Q27164487)  
**Source**: https://4ort.xyz/entity/charcot-marie-tooth-disease-axonal-type-2v


## References

1. Disease Ontology
2. UniProt
3. Adult-onset painful axonal polyneuropathy caused by a dominant NAGLU mutation
4. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000108784/MONDO_0014665)
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)
6. Monarch Disease Ontology release 2018-06-29
7. UMLS 2023