Metadata | |
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ID | DOID:0050954 |
Name | spinocerebellar ataxia type 1 |
Definition | An autosomal dominant cerebellar ataxia that is characterized by ataxia, dysarthria, dysphagia, dystonia and peripheral neuropathy that begins in early adulthood, has_material_basis_in the expanded (CAG)n trinucleotide repeat of ataxin-1 gene on chromosome 6p22. https://rarediseases.info.nih.gov/diseases/4071/spinocerebellar-ataxia-1 |
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DO_rare_slim |
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