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 4H ID (Ontology) DOID:0110192 (Human Disease)
Definition A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutations in the gene encoding frabin (FGD4).
Also Known As "autosomal recessive Charcot-Marie-Tooth disease type 4H" ; "autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4H" ; "Charcot-Marie-Tooth neuropathy type 4H" (for all, see Synonyms field below)
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 Genes
 Charcot-Marie-Tooth disease type 4H       1
 for disease ribbon | Charcot-Marie-Tooth disease type 4H       1
 model of | Charcot-Marie-Tooth disease type 4H       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 4H  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 type 4H" EXACT
    "autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4H" EXACT
    "Charcot-Marie-Tooth neuropathy type 4H" EXACT
    "CMT4H" EXACT OMO:0003012
Secondary IDs
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ICD10CM:G60.0
MIM:609311
ORDO:99954