spinocerebellar ataxia with axonal neuropathy 1

Summary

DOID:0090115 - spinocerebellar ataxia with axonal neuropathy 1

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: autosomal recessive spinocerebellar ataxia with axonal neuropathy, SCAN1, autosomal recessive spinocerebellar ataxia with axonal neuropathy 1, spinocerebellar ataxia with axonal neuropathy type 1

Echinobase 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

: tdp1

MIM:

MIM:607250 - spinocerebellar ataxia, autosomal recessive, with axonal neuropathy; scan1

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): autosomal recessive cerebellar ataxia (is_a), nervous system disease (is_a)