OBO ID: DOID:0070241
Term Name: primary coenzyme Q10 deficiency 4 Search Ontology:
Synonyms:
  • coenzyme Q10 deficiency, primary, 4
  • COQ10D4
  • SCAR9
  • spinocerebellar ataxia, autosomal recessive 9
Definition: A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the ADCK3 gene on chromosome 1q42.13. https://www.ncbi.nlm.nih.gov/pubmed/18319072
References:
Ontology: Human Disease   ( DOID:0070241 )
OTHER primary coenzyme Q10 deficiency 4 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
COQ8A Coenzyme Q10 deficiency, primary, 4 612016
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None