Term Name: | Charcot-Marie-Tooth disease recessive intermediate C |
---|---|
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. |
Ontology: | Human Disease [DOID:0110198] ( DOID:0110198 ) |