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Metadata
ID	DOID:0111465
Name	combined oxidative phosphorylation deficiency 21
Definition	A combined oxidative phosphorylation deficiency characterized either by onset within the first months of life of severe hypotonia, failure to thrive, epilepsy, and early death or by onset after 6 months of life with a milder course and longer survival that has_material_basis_in homozygous or compound heterozygous mutation in the TARS2 gene on chromosome 1q21.2. https://pubmed.ncbi.nlm.nih.gov/34508595/, https://www.ncbi.nlm.nih.gov/pubmed/24827421
Xrefs	MIM:615918 ORDO:420733
Subsets	DO_rare_slim
Synonyms	COXPD21 [EXACT]
Parent Relationships	is_a combined oxidative phosphorylation deficiency is_a autosomal recessive disease
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance