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DO Term : deafness-dystonia-optic neuronopathy syndrome [DOID:0050757] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A mitochondrial metabolism disease that is characterized by hearing loss that begins early in life, problems with movement, impaired vision, and behavior problems, and has_material_basis_in mutations in the TIMM8A gene resulting in abnormal protein transport within the mitochondria.
  • synonyms:
  • deafness dystonia syndrome,
  • Deafness Dystonia Optic Atrophy Syndrome,
  • Deafness Dystonia Optic Neuronopathy Syndrome,
  • DOID:0050867,
  • OMIM:304700,
  • Mohr-Tranebjaerg syndrome,
  • Jensen syndrome,
  • ORDO:3213,
  • MESH:C535808,
  • Dystonia Deafness Syndrome,
  • 304700
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