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Metadata
ID	DOID:0112112
Name	combined oxidative phosphorylation deficiency 48
Definition	A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NSUN3 gene on chromosome 3q11.2. https://pubmed.ncbi.nlm.nih.gov/27356879/
Xrefs	OMIM:619012
Synonyms	COXPD48 [EXACT]
Parent Relationships	is_a combined oxidative phosphorylation deficiency is_a autosomal recessive disease