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Spastic Ataxia 3

Disease ID: disease_node_16068

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DbxrefMIM:611390
SubclassofDOID_0050952, DOID_0050737
Data SourceDOID
Doid Labelspastic ataxia 3
Doid DescriptionA spastic ataxia that is characterized by cerebellar ataxia, spasticity, hyperreflexia, urinary urgency and dysarthria, has_material_basis_in homozygous or compound heterozygous complex genomic rearrangements involving the MARS2 gene on chromosome 2q33.
Has Material Basis InGENO_0000148
Disease Node Iddisease_node_16068
Doid IdDOID_0050942
LabelSpastic Ataxia 3