|
DOID:0111613 - autosomal recessive spinocerebellar ataxia 23
Disease Ontology Definition:An autosomal recessive cerebellar ataxia characterized by epilepsy, intellectual disability, and gait ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the TDP2 gene on chromosome 6p22.3.
Synonyms: SCAR23, autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency,
Xenbase Genes
:
tdp2
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)