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Summary Literature (0)
DOID:0050757 - deafness-dystonia-optic neuronopathy syndrome

Disease Ontology Definition: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: Mohr-Tranebjaerg Syndrome, Deafness Dystonia Optic Neuronopathy Syndrome (DDON), Jensen syndrome, Mohr-Tranebjaerg syndrome, Deafness Dystonia Optic Atrophy Syndrome, Deafness Dystonia Optic Neuronopathy Syndrome, deafness dystonia syndrome, Dystonia Deafness Syndrome

Xenbase Genes : timm8a

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0010578 - manual digit 4 phalanx pre-cartilage condensation

MIM:
MIM:304700 - MOHR-TRANEBJAERG SYNDROME; MTS

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view
Parent(s): genetic disease (is_a), mitochondrial metabolism disease (is_a)