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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
| MIM:615453 - mitochondrial complex iii deficiency, nuclear type 6; mc3dn6 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
mitochondrial complex III deficiency (is_a)