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Metadata
ID	DOID:0111465
Name	combined oxidative phosphorylation deficiency 21
Definition	A combined oxidative phosphorylation deficiency characterized by axial hypotonia, limb hypertonia, psychomotor delay, and hyperlactatemia that has_material_basis_in homozygous or compound heterozygous mutation in the TARS2 gene on chromosome 1q21.2. https://www.ncbi.nlm.nih.gov/pubmed/24827421
Xrefs	OMIM:615918 ORDO:420733
Subsets	DO_rare_slim
Synonyms	COXPD21 [EXACT]
Parent Relationships	is_a combined oxidative phosphorylation deficiency is_a autosomal recessive disease