OBO ID: DOID:0070244
Term Name: primary coenzyme Q10 deficiency 7 Search Ontology:
Synonyms:
  • coenzyme Q10 deficiency, primary, 7
  • COQ10D7
  • COQ4-related neonatal encephalomyopathy
  • neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
Definition: A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ4 gene on chromosome 9q34.11. https://www.ncbi.nlm.nih.gov/pubmed/25658047
References:
Ontology: Human Disease   ( DOID:0070244 )
Relationships
is a type of:
OTHER primary coenzyme Q10 deficiency 7 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
COQ4 Coenzyme Q10 deficiency, primary, 7 616276
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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