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 dominant 1 ID (Ontology) DOID:0110209 (Human Disease)
Definition A Charcot-Marie-Tooth disease X-linked that has_material_basis_in hemizygous or heterozygous mutation in the GJB1 gene on chromosome Xq13.
Also Known As "Charcot-Marie-Tooth neuropathy X-linked dominant 1" ; "CMT1X" ; "CMTX1" (for all, see Synonyms field below)
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Spanning Tree (Parents/Children)
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X-linked monogenic disease
 |__X-linked dominant disease___________
Charcot-Marie-Tooth disease             |
 |__Charcot-Marie-Tooth disease type X__|
                                        Charcot-Marie-Tooth disease X-linked dominant 1
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Is a Charcot-Marie-Tooth disease type X
X-linked dominant disease
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Synonyms
  • "Charcot-Marie-Tooth neuropathy X-linked dominant 1" EXACT
    "CMT1X" EXACT OMO:0003012
    "CMTX1" EXACT OMO:0003012
    "X-linked Charcot-Marie-Tooth disease type 1" EXACT
Secondary IDs
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ICD10CM:G60.0
MIM:302800
ORDO:101075