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 2D ID (Ontology) DOID:0110164 (Human Disease)
Definition A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the GARS1 gene.
Also Known As "autosomal dominant Charcot-Marie-Tooth disease type 2D" ; "Charcot-Marie-Tooth disease neuronal type 2D" ; "Charcot-Marie-Tooth neuropathy type 2D" (for all, see Synonyms field below)
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Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS      10
Human Disease Models (FBhh)  DOID       1
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 Alleles Genes Human Disease Models
 Charcot-Marie-Tooth disease type 2D      12      7      1
 ameliorates | Charcot-Marie-Tooth disease type 2D       4       --       --
 exacerbates | Charcot-Marie-Tooth disease type 2D       2       --       --
 for disease ribbon | Charcot-Marie-Tooth disease type 2D       --       1       --
 model of | Charcot-Marie-Tooth disease type 2D       5      1       --
 DOES NOT ameliorate | Charcot-Marie-Tooth disease type 2D       1       --       --
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 type 2D  20 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 Charcot-Marie-Tooth disease type 2D" EXACT
    "Charcot-Marie-Tooth disease neuronal type 2D" EXACT
    "Charcot-Marie-Tooth neuropathy type 2D" EXACT
    "CMT2D" EXACT OMO:0003012
Secondary IDs
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ICD10CM:G60.0
MIM:601472
ORDO:99938