# Charcot-Marie-Tooth disease axonal type 20

> Charcot-Marie-Tooth disease type 2 that has material basis in heterozygous mutation in the DYNC1H1 gene on chromosome 14q32

**Wikidata**: [Q27164484](https://www.wikidata.org/wiki/Q27164484)  
**Source**: https://4ort.xyz/entity/charcot-marie-tooth-disease-axonal-type-20


## References

1. Disease Ontology
2. UniProt
3. Exome Sequencing Identifies a DYNC1H1 Mutation in a Large Pedigree with Dominant Axonal Charcot-Marie-Tooth Disease
4. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000197102/MONDO_0013644)
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000197102/Orphanet_284232)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)
7. Monarch Disease Ontology release 2018-06-29