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DO Term : primary coenzyme Q10 deficiency 1 [DOID:0070238] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ2 gene on chromosome 4q21.22-q21.23.
  • synonyms:
  • OMIM:607426,
  • ubiquinone deficiency 1,
  • CoQ deficiency 1,
  • COQ10D1,
  • CoQ10 deficiency, primary, 1,
  • coenzyme Q deficiency 1,
  • 607426
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Ontology Term --> Direct parents