Charcot-Marie-Tooth disease type 2R (DOID:0110161)
Alliance: disease page
Synonyms: autosomal recessive axonal Charcot-Marie-Tooth disease type 2R; Charcot-Marie-Tooth neuropathy type 2R; CMT2R
Alt IDs: OMIM:615490, ICD10CM:G60.0, ORDO:397968
Definition: A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the TRIM2 gene on chromosome 4q.