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DOID:0111612 - autosomal recessive spinocerebellar ataxia 3
Disease Ontology Definition:An autosomal recessive cerebellar ataxia characterized by spinocerebellar ataxia with optic and cochlear degeneration that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 6p23-p21.
Synonyms: SCABD, SCAR3, autosomal recessive spinocerebellar ataxia type 3, autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome, autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome,
Xenbase Genes
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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)