autosomal recessive spinocerebellar ataxia 16

Summary

DOID:0080029 - autosomal recessive spinocerebellar ataxia 16

Disease Ontology Definition:An autosomal recessive cerebellar ataxia that is characterized by truncal and limb ataxia resulting in gait instability and that has_material_basis_in homozygous or compound heterozygous mutation in the STUB1 gene on chromosome 16p13.

Synonyms: SCAR16

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

: stub1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014339 - autosomal recessive spinocerebellar ataxia 16

MONDO:0014339 - autosomal recessive spinocerebellar ataxia 16

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

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

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