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Metadata
ID	DOID:0112113
Name	combined oxidative phosphorylation deficiency 45
Definition	A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPL12 gene on chromosome 17q25.3. https://pubmed.ncbi.nlm.nih.gov/23603806/
Xrefs	MIM:618951
Synonyms	COXPD45 [EXACT]
Parent Relationships	is_a combined oxidative phosphorylation deficiency is_a autosomal recessive disease