OntologiesncitclassesNCIT:C165500   
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Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 2
http://purl.obolibrary.org/obo/NCIT_C165500

An autosomal recessive condition caused by mutation(s) in the SETX gene, encoding probable helicase senataxin. It is characterized by juvenile onset progressive cerebellar ataxia, axonal sensorimotor peripheral neuropathy, and increased concentrations of serum alpha-fetoprotein. Oculomotor apraxia is common, but is not always present.

Exact Synonyms
AOA2
Ataxia with Oculomotor Apraxia Type 2
SCAN2
Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 2
class Information
code

C165500

Contributing_Source

Cellosaurus

Preferred_Name

Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 2

Semantic_Type

Disease or Syndrome

UMLS_CUI

C1853761

class Relations