Search Ontology:
Human Disease

primary coenzyme Q10 deficiency 5

Term ID
DOID:0070242
Synonyms
  • coenzyme Q10 deficiency, primary, 5
  • COQ10D5
  • encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
Definition
A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ9 gene on chromosome 16q21. https://www.ncbi.nlm.nih.gov/pubmed/19375058
References
Ontology
Human Disease   ( DOID:0070242 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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