OBO ID: DOID:0050965
Term Name: spinocerebellar ataxia type 15 Search Ontology:
Synonyms:
  • spinocerebellar ataxia type 16
Definition: An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, nystagmus, dysarthria and dysphagia, has_material_basis_in mutation in the ITPR1 gene. https://rarediseases.info.nih.gov/diseases/10477/spinocerebellar-ataxia-15
References:
Ontology: Human Disease   ( DOID:0050965 )
Relationships
is a type of:
OTHER spinocerebellar ataxia type 15 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ITPR1 Spinocerebellar ataxia 15 606658
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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