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DO Term : combined oxidative phosphorylation deficiency 11 [DOID:0111481] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A combined oxidative phosphorylation deficiency characterized by neonatal hypotonia, lactic acidosis, death in infancy and in some cases respiratory insufficiency, foot deformities, or seizures that has_material_basis_in homozygous or compound heterozygous mutation in the RMND1 gene on chromosome 6q25.1.
  • synonyms:
  • ORDO:324535,
  • 614922,
  • OMIM:614922,
  • COXPD11,
  • infantile encephaloneuromyopathy due to mitochondrial translation defect
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