# Charcot-Marie-Tooth disease axonal type 2L

> Charcot-Marie-Tooth disease type 2 that has material basis in mutation in the HSPB8 gene

**Wikidata**: [Q27164483](https://www.wikidata.org/wiki/Q27164483)  
**Source**: https://4ort.xyz/entity/charcot-marie-tooth-disease-axonal-type-2l


## References

1. Disease Ontology
2. UniProt
3. Small heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L
4. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000152137/Orphanet_99945)
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)
6. UMLS 2023
7. Monarch Disease Ontology release 2018-06-29