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DO Term : combined oxidative phosphorylation deficiency 43 [DOID:0112116] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TIMM22 gene on chromosome 17p13.3.
  • synonyms:
  • COXPD43,
  • 618851,
  • OMIM:618851
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Disease

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Ontology

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