autosomal recessive spinocerebellar ataxia 2

Summary

DOID:0080061 - autosomal recessive spinocerebellar ataxia 2

Disease Ontology Definition:An autosomal recessive cerebellar ataxia that is characterized by juvenile onset of progressive cerebellar ataxia, axonal sensorimotor peripheral neuropathy, and increased serum alpha-fetoprotein, and has_material_basis_in homozygous or compound heterozygous mutation in the senataxin gene on chromosome 9q34.

Synonyms: SCAR2,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: pmpca

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0008943 - autosomal recessive spinocerebellar ataxia 2

MONDO:0008943 - autosomal recessive spinocerebellar ataxia 2

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive cerebellar ataxia (is_a)