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 1B ID (Ontology) DOID:0110152 (Human Disease)
Definition A Charcot-Marie-Tooth disease type 1 that has_material_basis_in heterozygous mutation in the gene encoding myelin protein zero (MPZ).
Also Known As "autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1B" ; "Charcot-Marie-Tooth disease slow nerve conduction type linked to Duffy" ; "Charcot-Marie-Tooth neuropathy type 1B" (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 1B
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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 disease with focally folded myelin sheaths type 1B" EXACT
    "Charcot-Marie-Tooth disease slow nerve conduction type linked to Duffy" EXACT
    "Charcot-Marie-Tooth neuropathy type 1B" EXACT
    "CMT1B" EXACT OMO:0003012
    "hereditary motor and sensory neuropathy IB" EXACT
    "HMSN IB" EXACT OMO:0003012
    "HMSN1B" EXACT OMO:0003012
    "peroneal muscular atrophy" EXACT
Secondary IDs
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ICD10CM:G60.0
MIM:118200
ORDO:101082