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Echinobase
Summary Literature (0)
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


OMIM:
MIM:615160 - mitochondrial complex iii deficiency, nuclear type 5; mc3dn5

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): mitochondrial complex III deficiency (is_a)