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 2R ID (Ontology) DOID:0110161 (Human Disease)
Definition A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the TRIM2 gene on chromosome 4q.
Also Known As "autosomal recessive axonal Charcot-Marie-Tooth disease type 2R" ; "Charcot-Marie-Tooth neuropathy type 2R" ; "CMT2R"
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 Genes
 Charcot-Marie-Tooth disease type 2R       2
 for disease ribbon | Charcot-Marie-Tooth disease type 2R       2
 model of | Charcot-Marie-Tooth disease type 2R       2
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease_________
Charcot-Marie-Tooth disease             |
 |__Charcot-Marie-Tooth disease type 2__|
                                        Charcot-Marie-Tooth disease type 2R  2 rec.
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Is a Charcot-Marie-Tooth disease type 2
autosomal recessive disease
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Synonyms
  • "autosomal recessive axonal Charcot-Marie-Tooth disease type 2R" EXACT
    "Charcot-Marie-Tooth neuropathy type 2R" EXACT
    "CMT2R" EXACT OMO:0003012
Secondary IDs
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ICD10CM:G60.0
MIM:615490
ORDO:397968