OBO ID: DOID:0070239
Term Name: primary coenzyme Q10 deficiency 2 Search Ontology:
Synonyms:
  • coenzyme Q10 deficiency, primary, 2
  • COQ10D2
  • deafness-encephaloneuropathy-obesity-valvulopathy syndrome
  • hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome
Definition: A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the PDSS1 gene on chromosome 10p12.1. https://www.ncbi.nlm.nih.gov/pubmed/17332895
References:
Ontology: Human Disease   ( DOID:0070239 )
Relationships
is a type of:
OTHER primary coenzyme Q10 deficiency 2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PDSS1 Coenzyme Q10 deficiency, primary, 2 614651
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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