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:

Echinobase Genes : ears2, gfm1, mrps22, mrpl44, tufm, rmnd1, pnpt1, tsfm, mrpl3, fars2, mrps16


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