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 1D ID (Ontology) DOID:0110150 (Human Disease)
Definition A Charcot-Marie-Tooth disease type 1 that has_material_basis_in mutation in the early growth response gene-2 (EGR2).
Also Known As "Charcot-Marie-Tooth neuropathy type 1D" ; "CMT1D" ; "hereditary motor and sensory neuropathy 1D" (for all, see Synonyms field below)
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 Genes
 Charcot-Marie-Tooth disease type 1D       1
 for disease ribbon | Charcot-Marie-Tooth disease type 1D       1
 model of | Charcot-Marie-Tooth disease type 1D       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__________
Charcot-Marie-Tooth disease             |
 |__Charcot-Marie-Tooth disease type 1__|
                                        Charcot-Marie-Tooth disease type 1D  1 rec.
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Is a Charcot-Marie-Tooth disease type 1
autosomal dominant disease
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Synonyms
  • "Charcot-Marie-Tooth neuropathy type 1D" EXACT
    "CMT1D" EXACT OMO:0003012
    "hereditary motor and sensory neuropathy 1D" EXACT
    "HMSN ID" EXACT OMO:0003012
    "HMSN1D" EXACT OMO:0003012
Secondary IDs
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ICD10CM:G60.0
MESH:C537985
MIM:607678
ORDO:101084