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Metadata
ID	DOID:0111496
Name	combined oxidative phosphorylation deficiency 17
Definition	A combined oxidative phosphorylation deficiency characterized by onset in the first years of life of severe hypertrophic cardiomyopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ELAC2 gene on chromosome 17p12. https://www.ncbi.nlm.nih.gov/pubmed/23849775
Xrefs	MIM:615440 ORDO:369913
Subsets	DO_rare_slim
Synonyms	COXPD17 [EXACT]
Parent Relationships	is_a combined oxidative phosphorylation deficiency is_a autosomal recessive disease