Charcot-Marie-Tooth disease X-linked recessive 5 (DOID:0110210)
Alliance: disease page
Synonyms: Charcot-Marie-Tooth neuropathy X-linked recessive 5; CMT5X; CMTX5; optic atrophy, polyneuropathy, and deafness; Rosenberg-Chutorian syndrome; X-linked Charcot-Marie-Tooth disease type 5
Alt IDs: OMIM:311070, ICD10CM:G60.0, ORDO:99014
Definition: A Charcot-Marie-Tooth disease X-linked that has_material_basis_in loss-of-function mutation in the PRPS1 gene on chromosome Xq22.