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DO Term : primary coenzyme Q10 deficiency 7 [DOID:0070244] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ4 gene on chromosome 9q34.11.
  • synonyms:
  • ORDO:457185,
  • COQ10D7,
  • neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome,
  • 616276,
  • coenzyme Q10 deficiency, primary, 7,
  • OMIM:616276,
  • COQ4-related neonatal encephalomyopathy
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