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DO Term : spastic ataxia 2 [DOID:0050941] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A spastic ataxia that is characterized by cerebellar ataxia, spasticity and peripheral neuropathy in the first two decades of life, has_material_basis_in homozygous mutation in the KIF1C gene on chromosome 17p13.
  • synonyms:
  • OMIM:611302,
  • 611302
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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