spastic ataxia 3

Summary

DOID:0050942 - spastic ataxia 3

Disease Ontology Definition:A spastic ataxia that is characterized by cerebellar ataxia, spasticity, hyperreflexia, urinary urgency and dysarthria, has_material_basis_in homozygous or compound heterozygous complex genomic rearrangements involving the MARS2 gene on chromosome 2q33.

Synonyms:

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

: mars2

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0012664 - spastic ataxia 3

MONDO:0012664 - spastic ataxia 3

MIM:

MIM:611390 - SPASTIC ATAXIA 3, AUTOSOMAL RECESSIVE; SPAX3

MIM:611390 - SPASTIC ATAXIA 3, AUTOSOMAL RECESSIVE; SPAX3

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

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

Parent(s): autosomal recessive disease (is_a), spastic ataxia (is_a)