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 2B1 ID (Ontology) DOID:0110156 (Human Disease)
Definition A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous mutation in the lamin A/C gene (LMNA) on chromosome 1q22.
Also Known As "autosomal recessive axonal Charcot-Marie-Tooth disease type 2B1" ; "autosomal recessive axonal CMT4C1" ; "autosomal recessive Charcot-Marie-Tooth disease type 2B1" (for all, see Synonyms field below)
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 Genes
 Charcot-Marie-Tooth disease type 2B1       2
 for disease ribbon | Charcot-Marie-Tooth disease type 2B1       2
 model of | Charcot-Marie-Tooth disease type 2B1       2
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease_________
Charcot-Marie-Tooth disease             |
 |__Charcot-Marie-Tooth disease type 2__|
                                        Charcot-Marie-Tooth disease type 2B1  2 rec.
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Is a Charcot-Marie-Tooth disease type 2
autosomal recessive disease
Part of
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Synonyms
  • "autosomal recessive axonal Charcot-Marie-Tooth disease type 2B1" EXACT
    "autosomal recessive axonal CMT4C1" EXACT
    "autosomal recessive Charcot-Marie-Tooth disease type 2B1" EXACT
    "Charcot-Marie-Tooth disease neuronal type 2B1" EXACT
    "Charcot-Marie-Tooth neuropathy type 2B1" EXACT
    "CMT2B1" EXACT OMO:0003012
Secondary IDs
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ICD10CM:G60.0
MESH:C537990
MIM:605588
ORDO:98856