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Metadata
DOID DOID:0050958
Name spinocerebellar ataxia type 7
Definition An autosomal dominant cerebellar ataxia that is characterized by ataxia, progressive vision loss, and failure to thrive, has_material_basis_in mutation in the ATXN7 gene.
https://rarediseases.info.nih.gov/diseases/4955/spinocerebellar-ataxia-7
Xrefs

OMIM:164500

Relationships

is_a autosomal dominant cerebellar ataxia

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