# Charcot-Marie-Tooth disease axonal type 2Q

> Charcot-Marie-Tooth disease type 2 that has material basis in a heterozygous loss-of-function mutation in the DHTKD1 gene on chromosome 10p14

**Wikidata**: [Q27164479](https://www.wikidata.org/wiki/Q27164479)  
**Source**: https://4ort.xyz/entity/charcot-marie-tooth-disease-axonal-type-2q


## References

1. Disease Ontology
2. UniProt
3. A Nonsense Mutation in DHTKD1 Causes Charcot-Marie-Tooth Disease Type 2 in a Large Chinese Pedigree
4. [Identifiers.org](https://registry.identifiers.org/registry/doid)
5. Monarch Disease Ontology release 2018-06-29