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DO Term : spinocerebellar ataxia type 29 [DOID:0050978] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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.

synonyms:
OMIM:117360,
117360

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

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