mitochondrial complex III deficiency nuclear type 6

Summary

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:

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: cyc1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014194 - mitochondrial complex III deficiency nuclear type 6

MONDO:0014194 - mitochondrial complex III deficiency nuclear type 6

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

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

Parent(s): genetic disease (is_a), mitochondrial complex III deficiency (is_a)