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Metadata
ID	DOID:0111466
Name	combined oxidative phosphorylation deficiency 38
Definition	A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS14 gene on chromosome 1q25.1. https://www.ncbi.nlm.nih.gov/pubmed/30358850
Xrefs	OMIM:618378
Synonyms	COXPD38 [EXACT]
Parent Relationships	is_a combined oxidative phosphorylation deficiency is_a autosomal recessive disease