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Metadata
ID	DOID:0111477
Name	combined oxidative phosphorylation deficiency 14
Definition	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. https://www.ncbi.nlm.nih.gov/pubmed/22499341, https://www.ncbi.nlm.nih.gov/pubmed/22833457
Xrefs	OMIM:614946 ORDO:319519
Subsets	DO_rare_slim
Synonyms	COXPD14 [EXACT]
Parent Relationships	is_a combined oxidative phosphorylation deficiency is_a autosomal recessive disease