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Disease Ontology Browser
autosomal recessive spinocerebellar ataxia 23 (DOID:0111613)
Alliance: disease page
Synonyms: autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency; SCAR23
Alt IDs: OMIM:616949, ORDO:404493
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.

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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12/10/2024
MGI 6.24 		The Jackson Laboratory