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 2N ID (Ontology) DOID:0110177 (Human Disease)
Definition A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the AARS gene on chromosome 16q21.
Also Known As "autosomal dominant axonal Charcot-Marie-Tooth disease type 2N" ; "autosomal dominant Charcot-Marie-Tooth disease type 2N" ; "Charcot-Marie-Tooth neuropathy axonal type 2N" (for all, see Synonyms field below)
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 Genes
 Charcot-Marie-Tooth disease axonal type 2N       2
 for disease ribbon | Charcot-Marie-Tooth disease axonal type 2N       2
 model of | Charcot-Marie-Tooth disease axonal type 2N       2
Spanning Tree (Parents/Children)
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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 2N  2 rec.
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Is a Charcot-Marie-Tooth disease type 2
autosomal dominant disease
Part of
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Synonyms
  • "autosomal dominant axonal Charcot-Marie-Tooth disease type 2N" EXACT
    "autosomal dominant Charcot-Marie-Tooth disease type 2N" EXACT
    "Charcot-Marie-Tooth neuropathy axonal type 2N" EXACT
    "CMT2N" EXACT OMO:0003012
Secondary IDs
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ICD10CM:G60.0
MIM:613287
ORDO:228174