# Charcot-Marie-Tooth disease recessive intermediate C

> Charcot-Marie-Tooth disease intermediate type that has material basis in homozygous or compound heterozygous mutation in the PLEKHG5 gene on chromosome 1p36

**Wikidata**: [Q27677660](https://www.wikidata.org/wiki/Q27677660)  
**Source**: https://4ort.xyz/entity/charcot-marie-tooth-disease-recessive-intermediate-c


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot–Marie–Tooth disease
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000171680/MONDO_0014154)
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000171680/Orphanet_369867)
7. [Identifiers.org](https://registry.identifiers.org/registry/doid)
8. UMLS 2023