Summary Literature (0)

DOID:0110210 - Charcot-Marie-Tooth disease X-linked recessive 5

Disease Ontology Definition:A Charcot-Marie-Tooth disease X-linked that has_material_basis_in loss-of-function mutation in the PRPS1 gene on chromosome Xq22.

Synonyms: CMT5X, CMTX5, Charcot-Marie-Tooth neuropathy X-linked recessive 5, Rosenberg-Chutorian syndrome, X-linked Charcot-Marie-Tooth disease type 5, optic atrophy, polyneuropathy, and deafness,

Echinobase Genes : LOC585120


OMIM:

MIM:311070 - charcot-marie-tooth disease, x-linked recessive, 5; cmtx5

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee