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DO Term : combined oxidative phosphorylation deficiency 14 [DOID:0111477] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A combined oxidative phosphorylation deficiency characterized by neonatal onset of global developmental delay, refractory seizures, and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in the FARS2 gene on chromosome 6p25.1.
  • synonyms:
  • COXPD14,
  • ORDO:319519,
  • OMIM:614946,
  • 614946
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents