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DO Term : primary coenzyme Q10 deficiency 5 [DOID:0070242] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ9 gene on chromosome 16q21.
  • synonyms:
  • 614654,
  • COQ10D5,
  • ORDO:319678,
  • coenzyme Q10 deficiency, primary, 5,
  • encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome,
  • OMIM:614654
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Ontology Term --> Direct parents