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 6 ID (Ontology) DOID:0070243 (Human Disease)
Definition A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ6 gene on chromosome 14q24.3.
Also Known As "coenzyme Q10 deficiency, primary, 6" ; "COQ10D6" ; "familial steroid-resistant nephrotic syndrome with sensorineural deafness"
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Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS       1
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 Alleles Genes
 primary coenzyme Q10 deficiency 6       1      1
 for disease ribbon | primary coenzyme Q10 deficiency 6       --       1
 model of | primary coenzyme Q10 deficiency 6       1      1
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  mitochondrial metabolism disease
   |__coenzyme Q10 deficiency disease
       |__primary coenzyme Q10 deficiency 6  2 rec.
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Is a coenzyme Q10 deficiency disease
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Synonyms
  • "coenzyme Q10 deficiency, primary, 6" EXACT
    "COQ10D6" EXACT OMO:0003012
    "familial steroid-resistant nephrotic syndrome with sensorineural deafness" EXACT
Secondary IDs
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MIM:614650
ORDO:280406