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 dominant intermediate C ID (Ontology) DOID:0110199 (Human Disease)
Definition A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the YARS gene on chromosome 1p35.
Also Known As "autosomal dominant intermediate Charcot-Marie-Tooth disease type C" ; "Charcot-Marie-Tooth neuropathy dominant intermediate C" ; "CMTDIC" (for all, see Synonyms field below)
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Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS      14
Human Disease Models (FBhh)  DOID       1
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 Alleles Genes Human Disease Models
 Charcot-Marie-Tooth disease dominant intermediate C      15     10      1
 ameliorates | Charcot-Marie-Tooth disease dominant intermediate C       2       --       --
 exacerbates | Charcot-Marie-Tooth disease dominant intermediate C       8       --       --
 for disease ribbon | Charcot-Marie-Tooth disease dominant intermediate C       --       1       --
 model of | Charcot-Marie-Tooth disease dominant intermediate C       4      1       --
 DOES NOT model | Charcot-Marie-Tooth disease dominant intermediate C       1       --       --
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease_____________________
Charcot-Marie-Tooth disease                        |
 |__Charcot-Marie-Tooth disease intermediate type__|
                                                   Charcot-Marie-Tooth disease dominant intermediate C  26 rec.
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Is a Charcot-Marie-Tooth disease intermediate type
autosomal dominant disease
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Synonyms
  • "autosomal dominant intermediate Charcot-Marie-Tooth disease type C" EXACT
    "Charcot-Marie-Tooth neuropathy dominant intermediate C" EXACT
    "CMTDIC" EXACT OMO:0003012
    "DI-CMTC" EXACT OMO:0003012
Secondary IDs
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ICD10CM:G60.0
MESH:C564257
MIM:608323
ORDO:100045