Term Name: | Charcot-Marie-Tooth disease X-linked recessive 5 |
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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 ) |