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Metadata
ID	DOID:0111478
Name	combined oxidative phosphorylation deficiency 20
Definition	A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the VARS2 gene on chromosome 6p21.33. https://www.ncbi.nlm.nih.gov/pubmed/25058219
Xrefs	OMIM:615917 ORDO:420728
Subsets	DO_rare_slim
Synonyms	COXPD20 [EXACT]
Parent Relationships	is_a combined oxidative phosphorylation deficiency is_a autosomal recessive disease