Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Xenbase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.
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 : lyrm4, fars2, mrpl3, tsfm, pnpt1, ears2, mtfmt, gfm1, tars2, mrpl44, mrps22, aifm1, mrps16, rmnd1, aars2, [+]

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

OMIM:
OMIM:609060 - COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1; COXPD1
OMIM:610498 - COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2; COXPD2
OMIM:610505 - COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3; COXPD3
OMIM:610678 - COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4; COXPD4
OMIM:611719 - COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5; COXPD5
OMIM:613559 - COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7; COXPD7
OMIM:614096 - COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8; COXPD8
OMIM:614582 - COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9
OMIM:614922 - COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11; COXPD11
OMIM:614924 - COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12; COXPD12
OMIM:614932 - COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13; COXPD13
OMIM:614946 - COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14; COXPD14
OMIM:614947 - COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15; COXPD15
OMIM:615395 - COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16; COXPD16
OMIM:615578 - COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18; COXPD18
OMIM:615595 - COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19; COXPD19
OMIM:615918 - COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21; COXPD21

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

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