Summary Literature (0)

DOID:0080115 - mitochondrial complex III deficiency nuclear type 6

Disease Ontology Definition:A mitochondrial complex III deficiency characterized by onset in early childhood of episodic acute lactic acidosis, ketoacidosis, and insulin-responsive hyperglycemia, usually associated with infection and that has_material_basis_in homozygous mutation in the CYC1 gene on chromosome 8q24.

Synonyms:

Echinobase Genes : cyc1


OMIM:

MIM:615453 - mitochondrial complex iii deficiency, nuclear type 6; mc3dn6

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee