FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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Term Charcot-Marie-Tooth disease type 1E ID (Ontology) DOID:0110153 (Human Disease)
Definition A Charcot-Marie-Tooth disease type 1 that has_material_basis_in autosomal dominant mutation in the peripheral myelin protein-22 gene (PMP22).
Also Known As "autosomal dominant Charcot-Marie-Tooth neuropathy and deafness" ; "Charcot-Marie-Tooth disease and deafness" ; "Charcot-Marie-Tooth disease demyelinating type 1E" (for all, see Synonyms field below)
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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 1E
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Is a Charcot-Marie-Tooth disease type 1
autosomal dominant disease
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Synonyms
  • "autosomal dominant Charcot-Marie-Tooth neuropathy and deafness" EXACT
    "Charcot-Marie-Tooth disease and deafness" EXACT
    "Charcot-Marie-Tooth disease demyelinating type 1E" EXACT
    "Charcot-Marie-Tooth disease-deafness" EXACT
    "CMT1E" EXACT OMO:0003012
Secondary IDs
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GARD:9190
ICD10CM:G60.0
MIM:118300
ORDO:90658