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Metadata
ID	DOID:0111494
Name	combined oxidative phosphorylation deficiency 4
Definition	A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TUFM gene on chromosome 16p11.2. https://www.ncbi.nlm.nih.gov/pubmed/17160893
Xrefs	MESH:C565690 OMIM:610678 ORDO:254925 SNOMEDCT_US_2023_03_01:766876004 UMLS_CUI:C1857682
Subsets	DO_rare_slim
Synonyms	COXPD4 [EXACT]
Parent Relationships	is_a combined oxidative phosphorylation deficiency is_a autosomal recessive disease