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Metadata
ID	DOID:0111482
Name	combined oxidative phosphorylation deficiency 36
Definition	A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS2 gene on chromosome 9q34.3. https://www.ncbi.nlm.nih.gov/pubmed/29576219
Xrefs	OMIM:617950
Synonyms	COXPD36 [EXACT]
Parent Relationships	is_a combined oxidative phosphorylation deficiency is_a autosomal recessive disease