mitochondrial complex III deficiency nuclear type 4

Summary

DOID:0080113 - mitochondrial complex III deficiency nuclear type 4

Disease Ontology Definition:A mitochondrial complex III deficiency that has_material_basis_in homozygous mutation in the UQCRQ gene on chromosome 5q31.

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

: uqcrq

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014065 - mitochondrial complex III deficiency nuclear type 4

MONDO:0014065 - mitochondrial complex III deficiency nuclear type 4

MIM:

MIM:615159 - MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4; MC3DN4

MIM:615159 - MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4; MC3DN4

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)