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DO Term : spinocerebellar ataxia type 40 [DOID:0050986] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

An autosomal dominant cerebellar ataxia that is characterized by progressive gait abnormalities, dysarthria, tremor and hyporeflexia, has_material_basis_in mutation in the CCDC88C gene.

synonyms:
616053,
OMIM:616053

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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