autosomal recessive spinocerebellar ataxia 18

Summary

DOID:0080042 - autosomal recessive spinocerebellar ataxia 18

Disease Ontology Definition:An autosomal recessive cerebellar ataxia that is characterized by delayed psychomotor development, severely impaired gait due to cerebellar ataxia, ocular movement abnormalities, and intellectual disability and that has_material_basis_in homozygous mutation in the GRID2 gene on chromosome 4q22.

Synonyms: SCAR18

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

: grid2

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014530 - autosomal recessive spinocerebellar ataxia 18

MONDO:0014530 - autosomal recessive spinocerebellar ataxia 18

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)