Dystonia 22, Juvenile-Onset
Disease ID: disease_node_17265
Connections displayed (default: 10).
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| Dbxref | MIM:620453 |
|---|---|
| Subclassof | DOID_543, DOID_0050737 |
| Data Source | DOID |
| Doid Label | dystonia 22, juvenile-onset |
| Doid Description | A dystonia characterized by progressive, generalized dystonia associated with cognitive decline and cerebellar atrophy on brain imaging that has_material_basis_in homozygous loss-of-function mutation in the TSPOAP1 gene (610764) on chromosome 17q22. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_17265 |
| Doid Id | DOID_0060966 |
| Label | Dystonia 22, Juvenile-Onset |
- Outgoing r'ship
SUBCLASS_OFto/from Dystonia(ID:disease_node_2684) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)