mitochondrial complex III deficiency nuclear type 2

Summary

DOID:0060351 - mitochondrial complex III deficiency nuclear type 2

Disease Ontology Definition:A mitochondrial metabolism disease characterized by motor disability, with ataxia, apraxia, dystonia, and dysarthria, associated with necrotic lesions throughout the brain and has_material_basis_in mutation in the TTC19 gene on chromosome 17. It has an autosomal recessive inheritance pattern.

Synonyms: MC3DN2,

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

: ttc19

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014063 - mitochondrial complex III deficiency nuclear type 2

MONDO:0014063 - mitochondrial complex III deficiency nuclear type 2

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)