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DO Term : mitochondrial complex III deficiency nuclear type 2 [DOID:0060351] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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:
  • OMIM:615157,
  • MC3DN2,
  • 615157
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents