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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

MIM:
MIM:609060 - COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1; COXPD1
MIM:610498 - COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2; COXPD2
MIM:610505 - COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3; COXPD3
MIM:610678 - COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4; COXPD4
MIM:611719 - COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5; COXPD5
MIM:613559 - COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7; COXPD7
MIM:614096 - COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8; COXPD8
MIM:614582 - COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9
MIM:614922 - COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11; COXPD11
MIM:614924 - COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12; COXPD12
MIM:614932 - COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13; COXPD13
MIM:614946 - COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14; COXPD14
MIM:614947 - COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15; COXPD15
MIM:615395 - COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16; COXPD16
MIM:615578 - COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18; COXPD18
MIM:615595 - COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19; COXPD19
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): mitochondrial metabolism disease (is_a)