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spinocerebellar ataxia with epilepsy
Disease Summary
Associated Targets (1)
Tchem
1
Uniprot Description An autosomal recessive syndrome characterized by headaches and/or seizures manifesting in childhood or adolescence, cerebellar and sensory ataxia, dysarthria, and myoclonus manifesting in early adulthood. Neuropathological findings include spinocerebellar degeneration associated with cortical neuronal degeneration in advanced cases.
Mondo Term and Equivalent IDs
MONDO:0016809: spinocerebellar ataxia with epilepsy
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
Orphanet:254881
UMLS:C1843852
UMLS:CN202060
MONDO:0016809
High level summary of knowledge for a disease, including descriptions and datasource references.