| Metadata | |
|---|---|
| ID | DOID:0050757 |
| Name | deafness-dystonia-optic neuronopathy syndrome |
| 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. http://ghr.nlm.nih.gov/condition/deafness-dystonia-optic-neuronopathy-syndrome, http://omim.org/entry/304700, http://en.wikipedia.org/wiki/Mohr%E2%80%93Tranebj%C3%A6rg_syndrome, http://www.ncbi.nlm.nih.gov/books/NBK1216/ |
| Xrefs | |
| Alternateids |
DOID:0050867 |
| Subsets |
DO_rare_slim |
| Synonyms |
Deafness Dystonia Optic Atrophy Syndrome [EXACT] Deafness Dystonia Optic Neuronopathy Syndrome [EXACT] deafness dystonia syndrome [EXACT] Dystonia Deafness Syndrome [EXACT] Jensen syndrome [EXACT] Mohr-Tranebjaerg syndrome [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
disease has basis in some structural_variant |