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 4B2 ID (Ontology) DOID:0110190 (Human Disease)
Definition A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the SBF2 gene.
Also Known As "autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B2" ; "Charcot-Marie-Tooth neuropathy type 4B2" ; "CMT4B2"
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 Genes
 Charcot-Marie-Tooth disease type 4B2       1
 for disease ribbon | Charcot-Marie-Tooth disease type 4B2       1
 model of | Charcot-Marie-Tooth disease type 4B2       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease_________
Charcot-Marie-Tooth disease             |
 |__Charcot-Marie-Tooth disease type 4__|
                                        Charcot-Marie-Tooth disease type 4B2  1 rec.
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Is a Charcot-Marie-Tooth disease type 4
autosomal recessive disease
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Synonyms
  • "autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B2" EXACT
    "Charcot-Marie-Tooth neuropathy type 4B2" EXACT
    "CMT4B2" EXACT OMO:0003012
Secondary IDs
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GARD:9200
ICD10CM:G60.0
MESH:C535421
MIM:604563
ORDO:99956