# Charcot-Marie-Tooth disease axonal type 2CC

> Charcot-Marie-Tooth disease type 2 that has material basis in heterozygous mutation in the NEFH gene on chromosome 22q12

**Wikidata**: [Q27164490](https://www.wikidata.org/wiki/Q27164490)  
**Source**: https://4ort.xyz/entity/charcot-marie-tooth-disease-axonal-type-2cc


## References

1. Disease Ontology
2. UniProt
3. Cryptic Amyloidogenic Elements in the 3′ UTRs of Neurofilament Genes Trigger Axonal Neuropathy
4. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/8e1390ea-fd6c-4fa4-9b43-0eccff9e2829--2020-10-05T16:16:45)
5. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8e1390ea-fd6c-4fa4-9b43-0eccff9e2829-2020-10-05T161645.817Z)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)
7. Monarch Disease Ontology release 2018-06-29