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 2K ID (Ontology) DOID:0110167 (Human Disease)
Definition A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the GDAP1 gene on chromosome 8q.
Also Known As "ARCMT2K" ; "autosomal recessive axonal Charcot-Marie-Tooth disease disease type 2K" ; "autosomal recessive axonal Charcot-Marie-Tooth disease type 2K" (for all, see Synonyms field below)
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Data Class Field Records
Human Disease Models (FBhh)  DOID       1
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 Genes Human Disease Models
 Charcot-Marie-Tooth disease axonal type 2K       2      1
 for disease ribbon | Charcot-Marie-Tooth disease axonal type 2K       2       --
 model of | Charcot-Marie-Tooth disease axonal type 2K       2       --
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__________
 |__autosomal recessive disease_________|
Charcot-Marie-Tooth disease             |
 |__Charcot-Marie-Tooth disease type 2__|
                                        Charcot-Marie-Tooth disease axonal type 2K  3 rec.
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Is a Charcot-Marie-Tooth disease type 2
autosomal dominant disease
autosomal recessive disease
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Synonyms
  • "ARCMT2K" EXACT OMO:0003012
    "autosomal recessive axonal Charcot-Marie-Tooth disease disease type 2K" EXACT
    "autosomal recessive axonal Charcot-Marie-Tooth disease type 2K" EXACT
    "autosomal recessive axonal CMT4C4" EXACT
    "autosomal recessive Charcot-Marie-Tooth disease with hoarseness" EXACT
    "Charcot-Marie-Tooth neuropathy axonal type 2K" EXACT
Secondary IDs
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ICD10CM:G60.0
MIM:607831
ORDO:101097