mitochondrial complex III deficiency nuclear type 5

Summary

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:

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

: uqcrc2

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014066 - mitochondrial complex III deficiency nuclear type 5

MONDO:0014066 - mitochondrial complex III deficiency nuclear type 5

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)