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Hereditary Spastic Paraplegia 52

Disease ID: disease_node_16667

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DbxrefMIM:614067, ORDO:280763
SubclassofDOID_2476, DOID_0050737
Data SourceDOID
SynonymsCPSQ6, SPG52, autosomal recessive spastic paraplegia 52, spastic quadriplegic cerebral palsy 6
Doid Labelhereditary spastic paraplegia 52
Doid DescriptionA hereditary spastic paraplegia that has_material_basis_in mutation in the AP4S1 gene on chromosome 14q12.
Has Material Basis InGENO_0000148
Disease Node Iddisease_node_16667
Doid IdDOID_0110804
LabelHereditary Spastic Paraplegia 52