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DO Term : combined oxidative phosphorylation deficiency 47 [DOID:0112114] 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 MRPS28 gene on chromosome 8q21.13.
  • synonyms:
  • COXPD47,
  • 618958,
  • OMIM:618958
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Disease

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Ontology

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Ontology Term --> Direct parents





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