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X-Linked Parkinsonism-Spasticity Syndrome

Disease ID: disease_node_16707

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DbxrefMIM:300911, ORDO:363654
SubclassofDOID_480, DOID_0080012
Data SourceDOID
SynonymsX-linked Parkinsonism with spasticity, XPDS
Doid LabelX-linked parkinsonism-spasticity syndrome
Doid DescriptionA movement disease characterized by slowly progressive development of parkinsonian features and variably penetrant spasticity that has_material_basis_in hemizygous mutation in the ATP6AP2 gene on chromosome Xp11.4.
Has Material Basis InGENO_0000149
Disease Node Iddisease_node_16707
Doid IdDOID_0112105
LabelX-Linked Parkinsonism-Spasticity Syndrome