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Summary Literature (0)
DOID:0111465 - combined oxidative phosphorylation deficiency 21

Disease Ontology 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.

Synonyms: COXPD21

Xenbase Genes : tars2


MIM:
MIM:615918 - COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21; COXPD21

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), combined oxidative phosphorylation deficiency (is_a)