mitochondrial complex III deficiency nuclear type 2

Go to external page http://purl.obolibrary.org/obo/DOID_0060351


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. [ url:https://www.ncbi.nlm.nih.gov/pubmed/21278747 url:http://www.omim.org/entry/615157 http://purl.obolibrary.org/obo/ECO_0007636 http://purl.obolibrary.org/obo/ECO_0007645 ]

Synonyms: MC3DN2

This is just here as a test because I lose it

Term information

Subsets

DO_FlyBase_slim

acronym
MC3DN2

created by

elvira

creation date

2015-07-14T16:24:56Z

has obo namespace

disease_ontology

id

DOID:0060351