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DO Term : spinocerebellar ataxia type 34 [DOID:0050981] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  An autosomal dominant cerebellar ataxia that is characterized by papulosquamous, ichthyosiform plaques at birth and progressive ataxia, dysarthria, nystagmus and hyporeflexia, has_material_basis_in mutation in the ELOVL4 gene.
  • synonyms:
  • 133190,
  • OMIM:133190
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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