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DO Term : cerebellar ataxia type 42 [DOID:0111742] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  An autosomal dominant cerebellar ataxia characterized by gait instability, dysarthria, nystagmus, and saccadic pursuits with variable age of onset and severity and slow progression that has_material_basis_in heterozygous mutation of the CACNA1G gene on chromosome 17q21.
  • synonyms:
  • ORDO:458803,
  • SCA42,
  • OMIM:616795,
  • 616795
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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