# Charcot-Marie-Tooth disease axonal type 2U

> Charcot-Marie-Tooth disease type 2 that has material basis in heterozygous mutation in the MARS gene on chromosome 12q13

**Wikidata**: [Q27164482](https://www.wikidata.org/wiki/Q27164482)  
**Source**: https://4ort.xyz/entity/charcot-marie-tooth-disease-axonal-type-2u


## References

1. Disease Ontology
2. UniProt
3. Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2
4. [Identifiers.org](https://registry.identifiers.org/registry/doid)
5. Monarch Disease Ontology release 2018-06-29