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DO Term : combined oxidative phosphorylation deficiency 2 [DOID:0111483] 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 MRPS16 gene on chromosome 10q22.2.
  • synonyms:
  • COXPD2,
  • agenesis of corpus callosum with dysmorphism and fatal lactic acidosis,
  • MESH:C566468,
  • ORDO:254920,
  • OMIM:610498,
  • 610498
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Disease

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