|
DOID:0050713 - fatal infantile encephalocardiomyopathy
Disease Ontology Definition:A mitochondrial metabolism disease that has_material_basis_in a mutation in the SCO2 gene which encodes a COX assembly factor and results in deficiency of cytochrome c oxidase.
Synonyms: cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency, fatal infantile COX deficiency, fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency,
Echinobase Genes :
MIM:604377 - cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1; cemcox1 |
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)