Fragile X-Associated Tremor/Ataxia Syndrome
Disease ID: disease_node_16062
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| Dbxref | MIM:300623 |
|---|---|
| Subclassof | DOID_0050953 |
| Data Source | DOID |
| Synonyms | FXTAS syndrome |
| Doid Label | fragile X-associated tremor/ataxia syndrome |
| Doid Description | A X-linked hereditary ataxia that is characterized by adult-onset progressive intention tremor and gait ataxia, has_material_basis_in expanded trinucleotide repeat of the FMR1 gene that results_in a toxic gain of function of FMR1 RNA. |
| Has Material Basis In | SO_0002165 |
| Disease Node Id | disease_node_16062 |
| Doid Id | DOID_0050879 |
| Label | Fragile X-Associated Tremor/Ataxia Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from X-Linked Hereditary Ataxia(ID:disease_node_16058) (Disease)