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Autosomal Recessive Spinocerebellar Ataxia 16

Disease ID: disease_node_16019

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DbxrefMIM:615768
SubclassofDOID_0050950
Data SourceDOID
SynonymsSCAR16
Doid Labelautosomal recessive spinocerebellar ataxia 16
Doid DescriptionAn autosomal recessive cerebellar ataxia that is characterized by truncal and limb ataxia resulting in gait instability and that has_material_basis_in homozygous or compound heterozygous mutation in the STUB1 gene on chromosome 16p13.
Disease Node Iddisease_node_16019
Doid IdDOID_0080029
LabelAutosomal Recessive Spinocerebellar Ataxia 16