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 7 ID (Ontology) DOID:0070244 (Human Disease)
Definition A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ4 gene on chromosome 9q34.11.
Also Known As "coenzyme Q10 deficiency, primary, 7" ; "COQ10D7" ; "COQ4-related neonatal encephalomyopathy" (for all, see Synonyms field below)
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 Genes
 primary coenzyme Q10 deficiency 7       1
 for disease ribbon | primary coenzyme Q10 deficiency 7       1
 model of | primary coenzyme Q10 deficiency 7       1
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  mitochondrial metabolism disease
   |__coenzyme Q10 deficiency disease
       |__primary coenzyme Q10 deficiency 7  1 rec.
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Synonyms
  • "coenzyme Q10 deficiency, primary, 7" EXACT
    "COQ10D7" EXACT OMO:0003012
    "COQ4-related neonatal encephalomyopathy" EXACT
    "neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome" EXACT
Secondary IDs
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MIM:616276
ORDO:457185