1 Child Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0070445 | early-onset dystonia and/or spastic paraplegia | A dystonia characterized by variable onset of dystonia, spasticity, or both that has_material_basis_in heterozygous mutation in the ATP5MC3 gene on chromosome 2q31.1. |
1 Parent Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0050736 | autosomal dominant disease | An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease. |
