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Summary Literature (0)
DOID:0060286 - combined oxidative phosphorylation deficiency

Disease Ontology Definition:A mitochondrial metabolism disease that is characterized by growth retardation, microcephaly, hypertonia, encephalopathy, cardiomyopathy and liver dysfunction.

Synonyms:

Xenbase Genes : mrps2, trit1, trmt10c, elac2, txn2, lyrm4, fars2, atp5f1a, nars2, mrpl3, trmt5, tsfm, pnpt1, ears2, c1qbp, [+]

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0000732 - combined oxidative phosphorylation deficiency


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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): mitochondrial metabolism disease (is_a)