Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the COQ2 gene. [ MONDO : patterns/disease_series_by_gene ]

This is just here as a test because I lose it

Term information

database cross reference
abbreviation
COQ10D1 [ MONDO : Lexical https://omim.org/entry/607426 ]
conformsTo
  • http://purl.obolibrary.org/obo/mondo/patterns/specific_disease_by_dysfunctional_structure.yaml
definition
  • Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the COQ2 gene.
exactMatch
  • http://purl.obolibrary.org/obo/DOID_0070238
  • http://linkedlifedata.com/resource/umls/id/C3551954
  • https://omim.org/entry/607426
has exact synonym
  • COQ2 coenzyme Q10 deficiency
  • coenzyme Q10 deficiency, primary, 1
  • coenzyme Q10 deficiency, primary, type 1
  • coenzyme Q10 deficiency caused by mutation in COQ2
has related synonym
  • Coq10 deficiency, primary, 1
  • COQ10D1
  • coenzyme Q deficiency 1
  • CoQ deficiency 1
  • ubiquinone deficiency 1
id
  • MONDO:0011829