FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Charcot-Marie-Tooth disease X-linked recessive 5 ID (Ontology) DOID:0110210 (Human Disease)
Definition A Charcot-Marie-Tooth disease X-linked that has_material_basis_in loss-of-function mutation in the PRPS1 gene on chromosome Xq22.
Also Known As "Charcot-Marie-Tooth neuropathy X-linked recessive 5" ; "CMT5X" ; "CMTX5" (for all, see Synonyms field below)
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 Genes
 Charcot-Marie-Tooth disease X-linked recessive 5       1
 for disease ribbon | Charcot-Marie-Tooth disease X-linked recessive 5       1
 model of | Charcot-Marie-Tooth disease X-linked recessive 5       1
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X-linked monogenic disease
 |__X-linked recessive disease__________
Charcot-Marie-Tooth disease             |
 |__Charcot-Marie-Tooth disease type X__|
                                        Charcot-Marie-Tooth disease X-linked recessive 5  1 rec.
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Is a Charcot-Marie-Tooth disease type X
X-linked recessive disease
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Synonyms
  • "Charcot-Marie-Tooth neuropathy X-linked recessive 5" EXACT
    "CMT5X" EXACT OMO:0003012
    "CMTX5" EXACT OMO:0003012
    "optic atrophy, polyneuropathy, and deafness" EXACT
    "Rosenberg-Chutorian syndrome" EXACT
    "X-linked Charcot-Marie-Tooth disease type 5" EXACT
Secondary IDs
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ICD10CM:G60.0
MIM:311070
ORDO:99014