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DOID:0080114 - mitochondrial complex III deficiency nuclear type 5
Disease Ontology Definition:A mitochondrial complex III deficiency characterized by neonatal onset of severe metabolic acidosis associated with hyperammonemia and hypoglycemia and that has_material_basis_in homozygous mutation in the UQCRC2 gene on chromosome 16p12.
Synonyms:
Echinobase Genes : uqcrc2
MIM:615160 - mitochondrial complex iii deficiency, nuclear type 5; mc3dn5 |
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)