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DOID:0090115 - spinocerebellar ataxia type 1 with axonal neuropathy
Disease Ontology Definition:A nervous system disease characterized by autosomal recessive inheritance of spinocerebellar ataxia and peripheral neuropathy that has_material_basis_in homozygosity for a mutation in the TDP1 gene on chromosome 14q32.11.
Synonyms: SCAN1, autosomal recessive spinocerebellar ataxia with axonal neuropathy,
Echinobase Genes : tdp1
MIM:607250 - spinocerebellar ataxia, autosomal recessive, with axonal neuropathy; scan1 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
nervous system disease (is_a)