# Charcot-Marie-Tooth disease type 4B3

> Charcot-Marie-Tooth disease type 4 that has material basis in homozygous or compound heterozygous mutation in the SBF1 gene on chromosome 22q

**Wikidata**: [Q27677656](https://www.wikidata.org/wiki/Q27677656)  
**Source**: https://4ort.xyz/entity/charcot-marie-tooth-disease-type-4b3


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. SET binding factor 1 (SBF1) mutation causes Charcot-Marie-Tooth disease type 4B3.
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000100241/MONDO_0014117)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)