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Metadata
ID	DOID:0111490
Name	combined oxidative phosphorylation deficiency 26
Definition	A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TRMT5 gene on chromosome 14q23.1. https://www.ncbi.nlm.nih.gov/pubmed/26189817
Xrefs	OMIM:616539 ORDO:477684
Subsets	DO_rare_slim
Synonyms	COXPD26 [EXACT]
Parent Relationships	is_a combined oxidative phosphorylation deficiency is_a autosomal recessive disease