Search Ontology:
Human Disease

primary coenzyme Q10 deficiency 4

Term ID
DOID:0070241
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 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models