Charcot-Marie-Tooth disease recessive intermediate C

Term ID

DOID:0110198

Synonyms

• autosomal recessive intermediate Charcot-Marie-Tooth disease type C
• CMTRIC
• RI-CMT type C
• RI-CMTC

Definition

A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous or compound heterozygous mutation in the PLEKHG5 gene on chromosome 1p36. https://www.ncbi.nlm.nih.gov/pubmed/23777631

References

• ICD10CM:G60.0
• OMIM:615376
• ORDO:369867

Ontology

Human Disease   ( DOID:0110198 )