# Charcot-Marie-Tooth disease axonal type 2S

> Charcot-Marie-Tooth disease type 2 that has material basis in homozygous or compound heterozygous mutation in the IGHMBP2 gene on chromosome 11q13

**Wikidata**: [Q27164480](https://www.wikidata.org/wiki/Q27164480)  
**Source**: https://4ort.xyz/entity/charcot-marie-tooth-disease-axonal-type-2s


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000132740/MONDO_0014511)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)