OBO ID: DOID:0050978 |
Term Name: | spinocerebellar ataxia type 29 | Search Ontology: | |
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Definition: | An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, intellectual disability, dysarthria and ophthalmoplegia, and has_material_basis_in mutation in the ITPR1 gene. https://rarediseases.info.nih.gov/diseases/10480/spinocerebellar-ataxia-29 | ||
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Ontology: | Human Disease ( DOID:0050978 ) |
OTHER spinocerebellar ataxia type 29 PAGES
ZEBRAFISH MODELS
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PHENOTYPE
No data available
CITATIONS: None
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