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 5 ID (Ontology) DOID:0070242 (Human Disease)
Definition A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ9 gene on chromosome 16q21.
Also Known As "coenzyme Q10 deficiency, primary, 5" ; "COQ10D5" ; "encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome"
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 Genes
 primary coenzyme Q10 deficiency 5       1
 for disease ribbon | primary coenzyme Q10 deficiency 5       1
 model of | primary coenzyme Q10 deficiency 5       1
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  mitochondrial metabolism disease
   |__coenzyme Q10 deficiency disease
       |__primary coenzyme Q10 deficiency 5  1 rec.
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Is a coenzyme Q10 deficiency disease
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Synonyms
  • "coenzyme Q10 deficiency, primary, 5" EXACT
    "COQ10D5" EXACT OMO:0003012
    "encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome" EXACT
Secondary IDs
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MIM:614654
ORDO:319678