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Autosomal Domit Sensory Ataxia 1

Disease ID: disease_node_16057

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DbxrefMIM:608984
SubclassofDOID_0050736, DOID_0050951
Data SourceDOID
SynonymsADSA, SNAX1
Doid Labelautosomal domit sensory ataxia 1
Doid DescriptionA hereditary ataxia characterized by gait difficulty and instability especially in dark conditions resulting from sensory loss in the extremities and without cerebellar involvement that has_material_basis_in heterozygous mutations in the RNF170 gene on chromosome 8.
Has Material Basis InGENO_0000147
Disease Node Iddisease_node_16057
Doid IdDOID_0111170
LabelAutosomal Domit Sensory Ataxia 1