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DO Term : spinocerebellar ataxia type 5 [DOID:0050882] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  An autosomal dominant cerebellar ataxia that is characterized by the early-onset of cerebellar signs and eye movement abnormalities with a very slow disease progression, and has_material_basis_in mutation in the SPTBN2 gene.
  • synonyms:
  • 600224,
  • OMIM:600224,
  • GARD:4953
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents