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Disease Ontology Browser
mitochondrial complex III deficiency nuclear type 2 (DOID:0060351)
Synonyms: MC3DN2
Alt IDs: OMIM:615157
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.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/15/2017
MGI 6.10
The Jackson Laboratory