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DO Term : spinocerebellar ataxia type 13 [DOID:0050963] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  An autosomal dominant cerebellar ataxia that is characterized by developmental delay, ataxia, myoclinic jerks, dysarthria, dysphagia and seizure, and has_material_basis_in mutation in the KCNC3 gene.
  • synonyms:
  • 605259,
  • OMIM:605259
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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