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 axonal type 2CC ID (Ontology) DOID:0110180 (Human Disease)
Definition A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NEFH gene on chromosome 22q12.
Also Known As "Charcot-Marie-Tooth neuropathy type 2CC" ; "CMT2CC"
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autosomal genetic disease
 |__autosomal dominant disease__________
Charcot-Marie-Tooth disease             |
 |__Charcot-Marie-Tooth disease type 2__|
                                        Charcot-Marie-Tooth disease axonal type 2CC
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Is a Charcot-Marie-Tooth disease type 2
autosomal dominant disease
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Synonyms
  • "Charcot-Marie-Tooth neuropathy type 2CC" EXACT
    "CMT2CC" EXACT OMO:0003012
Secondary IDs
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MIM:616924