Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Disease ID: disease_node_16100
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| Dbxref | MIM:617145 |
|---|---|
| Subclassof | DOID_1289 |
| Data Source | DOID |
| Doid Label | neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset |
| Doid Description | A neurodegenerative disease that is characterized by onset of gait ataxia, cognitive decline, and gaze palsy in the first or second decades and that has_material_basis_in homozygous mutation in the SQSTM1 gene on chromosome 5q35. |
| Disease Node Id | disease_node_16100 |
| Doid Id | DOID_0081364 |
| Label | Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
- Outgoing r'ship
SUBCLASS_OFto/from Neurodegenerative Diseases(ID:disease_node_9989) (Disease)