# Charcot-Marie-Tooth disease type 2B1

> Charcot-Marie-Tooth disease type 2 that has material basis in homozygous mutation in the lamin A/C gene (LMNA) on chromosome 1q22

**Wikidata**: [Q27164462](https://www.wikidata.org/wiki/Q27164462)  
**Source**: https://4ort.xyz/entity/charcot-marie-tooth-disease-type-2b1


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000160789/MONDO_0011569)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)