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Metadata
ID	DOID:0112115
Name	combined oxidative phosphorylation deficiency 46
Definition	A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS23 gene on chromosome 17q22. https://pubmed.ncbi.nlm.nih.gov/26741492/
Xrefs	OMIM:618952
Synonyms	COXPD46 [EXACT]
Parent Relationships	is_a combined oxidative phosphorylation deficiency is_a autosomal recessive disease