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DO Term : combined oxidative phosphorylation deficiency 7 [DOID:0111487] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in C12orf65 on chromosome 12q24.31.
  • synonyms:
  • 613559,
  • ORDO:254930,
  • COXPD7,
  • severe C12ORF65-related COXPD,
  • severe C12ORF65-related combined oxidative phosphorylation defect,
  • OMIM:613559
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