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DO Term : spastic ataxia 1 [DOID:0050772] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A spastic ataxia characterized by early-onset cerebellar ataxia, spasticity, pyramidal syndrome and peripheral neuropathy, has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the VAMP1 gene on chromosome 12p13.
  • synonyms:
  • OMIM:108600,
  • 108600
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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