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DO Term : combined oxidative phosphorylation deficiency 4 [DOID:0111494] 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 TUFM gene on chromosome 16p11.2.
  • synonyms:
  • 610678,
  • SNOMEDCT_US_2023_03_01:766876004,
  • OMIM:610678,
  • COXPD4,
  • MESH:C565690,
  • ORDO:254925,
  • UMLS_CUI:C1857682
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