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 2H ID (Ontology) DOID:0110166 (Human Disease)
Definition A Charcot-Marie-Tooth disease type 2 that has_material_basis_in variation in the region 8q13-q23.
Also Known As "AR-CMT2C" ; "autosomal recessive axonal Charcot-Marie-Tooth disease with pyramidal features" ; "autosomal recessive axonal Charcot-Marie-Tooth neuropathy with pyramidal features" (for all, see Synonyms field below)
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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 axonal type 2H
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Is a Charcot-Marie-Tooth disease type 2
autosomal recessive disease
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Synonyms
  • "AR-CMT2C" EXACT OMO:0003012
    "autosomal recessive axonal Charcot-Marie-Tooth disease with pyramidal features" EXACT
    "autosomal recessive axonal Charcot-Marie-Tooth neuropathy with pyramidal features" EXACT
    "Autosomal recessive axonal CMT4C2" EXACT
    "Axonal Charcot-Marie-Tooth disease with pyramidal involvement" EXACT
    "Charcot-Marie-Tooth disease type 2H" EXACT
    "CMT2H" EXACT OMO:0003012
Secondary IDs
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ICD10CM:G60.0
MIM:607731
ORDO:101102