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DO Term : spinocerebellar ataxia with axonal neuropathy 2 [DOID:0050755] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  An autosomal recessive cerebellar ataxia that is characterized by the onset of ataxia between age three and thirty including axonal sensorimotor neuropathy, cerebellar atrophy and elevated alpha-fetoprotein that has_material_basis_in homozygous or compound heterozygous mutation in the SETX gene on chromosome 9q34.13. Oculomotor apraxia is common, but not universal.
  • synonyms:
  • ataxia with oculomotor apraxia type 2,
  • SCAN2,
  • autosomal recessive spinocerebellar ataxia 1,
  • AOA2,
  • spinocerebellar ataxia with axonal neuropathy type 2,
  • OMIM:606002,
  • ORDO:64753,
  • autosomal recessive spinocerebellar ataxia with axonal neuropathy 2,
  • GARD:12860,
  • 606002,
  • SCAR1
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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