Search Ontology:
Human Disease

primary coenzyme Q10 deficiency 1

Term ID
DOID:0070238
Synonyms
  • coenzyme Q deficiency 1
  • CoQ deficiency 1
  • CoQ10 deficiency, primary, 1
  • COQ10D1
  • ubiquinone deficiency 1
Definition
A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ2 gene on chromosome 4q21.22-q21.23. https://www.ncbi.nlm.nih.gov/pubmed/19375058
References
Ontology
Human Disease   ( DOID:0070238 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models