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DO Term : combined oxidative phosphorylation deficiency 27 [DOID:0111489] 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 CARS2 gene on chromosome 13q34.
  • synonyms:
  • OMIM:616672,
  • 616672,
  • COXPD27,
  • ORDO:477774
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Disease

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Ontology

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Ontology Term --> Direct parents





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