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 2B ID (Ontology) DOID:0110159 (Human Disease)
Definition A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the RAB7 gene on chromosome 3q21.
Also Known As "autosomal dominant Charcot-Marie-Tooth disease type 2B" ; "Charcot-Marie-Tooth neuropathy type 2B" ; "CMT2B" (for all, see Synonyms field below)
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Data Class Field Records
Human Disease Models (FBhh)  DOID       1
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 Genes Human Disease Models
 Charcot-Marie-Tooth disease type 2B       1      1
 for disease ribbon | Charcot-Marie-Tooth disease type 2B       1       --
 model of | Charcot-Marie-Tooth disease type 2B       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 2B  2 rec.
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Is a Charcot-Marie-Tooth disease type 2
autosomal dominant disease
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Synonyms
  • "autosomal dominant Charcot-Marie-Tooth disease type 2B" EXACT
    "Charcot-Marie-Tooth neuropathy type 2B" EXACT
    "CMT2B" EXACT OMO:0003012
    "hereditary motor and sensory nueropathy IIB" EXACT
    "HMSN IIB" EXACT OMO:0003012
    "HMSN2B" EXACT OMO:0003012
Secondary IDs
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GARD:9192
ICD10CM:G60.0
MESH:C537989
MIM:600882
ORDO:99936