# Charcot-Marie-Tooth disease axonal type 2X

> Charcot-Marie-Tooth disease type 2 that has material basis in homozygous or compound heterozygous mutation in the SPG11 gene on chromosome 15q21

**Wikidata**: [Q27164485](https://www.wikidata.org/wiki/Q27164485)  
**Source**: https://4ort.xyz/entity/charcot-marie-tooth-disease-axonal-type-2x


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. ALS5/SPG11/ KIAA1840 mutations cause autosomal recessive axonal Charcot–Marie–Tooth disease
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000104133/EFO_1001983)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)
7. UMLS 2023