Term Name: Charcot-Marie-Tooth disease X-linked recessive 5
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
Definition: A Charcot-Marie-Tooth disease X-linked that has_material_basis_in loss-of-function mutation in the PRPS1 gene on chromosome Xq22.
Ontology: Human Disease [DOID:0110210]   ( DOID:0110210 )

Relationships
is a type of: Charcot-Marie-Tooth disease type X X-linked recessive disease