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 type 4C ID (Ontology) DOID:0110183 (Human Disease)
Definition A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SH3TC2 gene.
Also Known As "autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4C" ; "Charcot-Marie-Tooth neuropathy type 4C" ; "CMT4C"
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autosomal genetic disease
 |__autosomal recessive disease_________
Charcot-Marie-Tooth disease             |
 |__Charcot-Marie-Tooth disease type 4__|
                                        Charcot-Marie-Tooth disease type 4C
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Is a Charcot-Marie-Tooth disease type 4
autosomal recessive disease
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Synonyms
  • "autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4C" EXACT
    "Charcot-Marie-Tooth neuropathy type 4C" EXACT
    "CMT4C" EXACT OMO:0003012
Secondary IDs
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ICD10CM:G60.0
MIM:601596
ORDO:99949