OBO ID: DOID:0070242
Term Name: primary coenzyme Q10 deficiency 5 Search Ontology:
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 primary coenzyme Q10 deficiency 5 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
COQ9 Coenzyme Q10 deficiency, primary, 5 614654
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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