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 dominant intermediate F ID (Ontology) DOID:0110206 (Human Disease)
Definition A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the GNB4 gene on chromosome 3q28.
Also Known As "autosomal dominant intermediate Charcot-Marie-Tooth disease type F" ; "CMTDIF"
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 Genes
 Charcot-Marie-Tooth disease dominant intermediate F       2
 for disease ribbon | Charcot-Marie-Tooth disease dominant intermediate F       2
 model of | Charcot-Marie-Tooth disease dominant intermediate F       2
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autosomal genetic disease
 |__autosomal dominant disease_____________________
Charcot-Marie-Tooth disease                        |
 |__Charcot-Marie-Tooth disease intermediate type__|
                                                   Charcot-Marie-Tooth disease dominant intermediate F  2 rec.
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Is a Charcot-Marie-Tooth disease intermediate type
autosomal dominant disease
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Synonyms
  • "autosomal dominant intermediate Charcot-Marie-Tooth disease type F" EXACT
    "CMTDIF" EXACT OMO:0003012
Secondary IDs
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ICD10CM:G60.0
MIM:615185
ORDO:352670