deafness-dystonia-optic neuronopathy syndrome

Summary

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

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: timm8a

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0010578 - deafness dystonia syndrome

MONDO:0010578 - deafness dystonia syndrome

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): genetic disease (is_a), mitochondrial metabolism disease (is_a)