X-linked parkinsonism-spasticity syndrome

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Summary

Literature (0)

DOID:0112105 - X-linked parkinsonism-spasticity syndrome

Disease Ontology Definition:A 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.

Synonyms: X-linked Parkinsonism with spasticity, XPDS,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: atp6ap2

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): movement disease (is_a)