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Autosomal Recessive Spinocerebellar Ataxia 27

Disease ID: disease_node_16009

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DbxrefMIM:618369
SubclassofDOID_0050950
Data SourceDOID
SynonymsSCAR27
Doid Labelautosomal recessive spinocerebellar ataxia 27
Doid DescriptionAn autosomal recessive cerebellar ataxia characterized by adult onset of progressive gait difficulties and other cerebellar signs that has_material_basis_in homozygous or compound heterozygous mutation in the GDAP2 gene on chromosome 1p12.
Disease Node Iddisease_node_16009
Doid IdDOID_0111616
LabelAutosomal Recessive Spinocerebellar Ataxia 27