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Metadata
ID	DOID:0112114
Name	combined oxidative phosphorylation deficiency 47
Definition	A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS28 gene on chromosome 8q21.13. https://pubmed.ncbi.nlm.nih.gov/30566640/
Xrefs	OMIM:618958
Synonyms	COXPD47 [EXACT]
Parent Relationships	is_a combined oxidative phosphorylation deficiency is_a autosomal recessive disease