# Charcot-Marie-Tooth disease type 2E

> Charcot-Marie-Tooth disease type 2 that has material basis in heterozygous mutation in the light polypeptide neurofilament protein gene (NEFL) on chromosome 8p21

**Wikidata**: [Q27164473](https://www.wikidata.org/wiki/Q27164473)  
**Source**: https://4ort.xyz/entity/charcot-marie-tooth-disease-type-2e


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. A New Variant of Charcot-Marie-Tooth Disease Type 2 Is Probably the Result of a Mutation in the Neurofilament-Light Gene
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000277586/MONDO_0011894)
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000277586/Orphanet_99939)
7. [Identifiers.org](https://registry.identifiers.org/registry/doid)