X-linked parkinsonism-spasticity syndrome Disease Ontology Browser

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Disease Ontology Browser

X-linked parkinsonism-spasticity syndrome (DOID:0112105)
Alliance: disease page
Synonyms: X-linked Parkinsonism with spasticity; XPDS
Alt IDs: OMIM:300911, ORDO:363654
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.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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