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 4 ID (Ontology) DOID:0110212 (Human Disease)
Definition A Charcot-Marie-Tooth disease X-linked that has_material_basis_in mutation in the AIFM1 gene on chromosome Xq26.
Also Known As "axonal motor sensory neuropathy with deafness and mental retardation" ; "Charcot-Marie-Tooth disease with deafness and mental retardation" ; "CMT4X" (for all, see Synonyms field below)
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 Genes
 Charcot-Marie-Tooth disease X-linked recessive 4       1
 for disease ribbon | Charcot-Marie-Tooth disease X-linked recessive 4       1
 model of | Charcot-Marie-Tooth disease X-linked recessive 4       1
Spanning Tree (Parents/Children)
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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 4  1 rec.
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Is a Charcot-Marie-Tooth disease type X
X-linked recessive disease
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Synonyms
  • "axonal motor sensory neuropathy with deafness and mental retardation" EXACT
    "Charcot-Marie-Tooth disease with deafness and mental retardation" EXACT
    "CMT4X" EXACT OMO:0003012
    "CMTX4" EXACT OMO:0003012
    "Cowchock syndrome" EXACT
    "NADMR" EXACT OMO:0003012
    "NAMSD" EXACT OMO:0003012
    "X-linked Charcot-Marie-Tooth disease type 4" EXACT
Secondary IDs
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ICD10CM:G60.0
MIM:310490
ORDO:101078