1 Child Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0050757 | deafness-dystonia-optic neuronopathy syndrome | 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. |
1 Parent Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0014667 | disease of metabolism | A disease that involves errors in metabolic processes of building or degradation of molecules. |
