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Metadata
ID	DOID:0070430
Name	combined oxidative phosphorylation deficiency 57
Definition	A combined oxidative phosphorylation deficiency that has_material_basis_in compound heterozygous or homozygous mutation in the CRLS1 gene on chromosome 20p12. https://pubmed.ncbi.nlm.nih.gov/35147173/
Xrefs	MIM:620167
Synonyms	COXPD57 [EXACT]
Parent Relationships	is_a combined oxidative phosphorylation deficiency is_a autosomal recessive disease