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DO Term : combined oxidative phosphorylation deficiency 39 [DOID:0111475] 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 GFM2 gene on chromosome 5q13.3.
  • synonyms:
  • 618397,
  • OMIM:618397,
  • COXPD39
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