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