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DO Term : combined oxidative phosphorylation deficiency 16 [DOID:0111469] 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 MRPL44 gene on chromosome 2q36.1.
  • synonyms:
  • OMIM:615395,
  • COXPD16,
  • GARD:12892,
  • infantile hypertrophic cardiomyopathy due to MRPL44 deficiency,
  • ORDO:352563,
  • 615395
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