OBO ID: DOID:0050954
Term Name: spinocerebellar ataxia type 1 Search Ontology:
Synonyms:
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
References:
Ontology: Human Disease   ( DOID:0050954 )
Relationships
is a type of:
OTHER spinocerebellar ataxia type 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ATXN1 Spinocerebellar ataxia 1 164400
PHENOTYPE No data available

CITATIONS (1)
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