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Hereditary Spastic Paraplegia 47

Disease ID: disease_node_16672

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DbxrefMIM:614066, ORDO:280763
SubclassofDOID_2476, DOID_0050737
Data SourceDOID
SynonymsCPSQ5, SPG47, autosomal recessive spastic paraplegia 47, spastic quadriplegic cerebral palsy 5
Doid Labelhereditary spastic paraplegia 47
Doid DescriptionA hereditary spastic paraplegia that has_material_basis_in mutation in the AP4B1 gene on chromosome 1p13.
Has Material Basis InGENO_0000148
Disease Node Iddisease_node_16672
Doid IdDOID_0110799
LabelHereditary Spastic Paraplegia 47