# giant axonal neuropathy 2

> human disease

**Wikidata**: [Q30989381](https://www.wikidata.org/wiki/Q30989381)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Autosomal_dominant_Charcot–Marie–Tooth_disease_type_2_with_giant_axons)  
**Source**: https://4ort.xyz/entity/giant-axonal-neuropathy-2


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Ubiquitin ligase defect by DCAF8 mutation causes HMSN2 with giant axons
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)
6. UMLS 2023