# Charcot-Marie-Tooth disease axonal type 2N

> Charcot-Marie-Tooth disease type 2 that has material basis in heterozygous mutation in the AARS gene on chromosome 16q21

**Wikidata**: [Q27164486](https://www.wikidata.org/wiki/Q27164486)  
**Source**: https://4ort.xyz/entity/charcot-marie-tooth-disease-axonal-type-2n


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. A Major Determinant for Binding and Aminoacylation of tRNAAla in Cytoplasmic Alanyl-tRNA Synthetase Is Mutated in Dominant Axonal Charcot-Marie-Tooth Disease
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000090861/MONDO_0013212)
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000090861/Orphanet_228174)
7. [Identifiers.org](https://registry.identifiers.org/registry/doid)