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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,
Echinobase Genes : ttc19
MIM:615157 - mitochondrial complex iii deficiency, nuclear type 2; mc3dn2 |
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)