FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term primary coenzyme Q10 deficiency 4 ID (Ontology) DOID:0070241 (Human Disease)
Definition A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the ADCK3 gene on chromosome 1q42.13.
Also Known As "coenzyme Q10 deficiency, primary, 4" ; "COQ10D4" ; "SCAR9" (for all, see Synonyms field below)
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Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS       3
Human Disease Models (FBhh)  DOID       1
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 Alleles Genes Human Disease Models
 primary coenzyme Q10 deficiency 4       3      1      1
 for disease ribbon | primary coenzyme Q10 deficiency 4       --       1       --
 model of | primary coenzyme Q10 deficiency 4       3      1       --
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  mitochondrial metabolism disease
   |__coenzyme Q10 deficiency disease
       |__primary coenzyme Q10 deficiency 4  5 rec.
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Is a coenzyme Q10 deficiency disease
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Synonyms
  • "coenzyme Q10 deficiency, primary, 4" EXACT
    "COQ10D4" EXACT OMO:0003012
    "SCAR9" EXACT OMO:0003012
    "spinocerebellar ataxia, autosomal recessive 9" EXACT
Secondary IDs
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GARD:10294
MIM:612016
ORDO:139485