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Parkinson disease 17

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any Parkinson disease in which the cause of the disease is a mutation in the VPS35 gene.
Uniprot Description An autosomal dominant, adult-onset form of Parkinson disease. Parkinson disease is a complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability, as well as by a clinically significant response to treatment with levodopa. The pathology involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain.
Disease Ontology Description A late-onset Parkinson disease that has_material_basis_in heterozygous mutation in the VPS35 gene on chromosome 16q13.
Mondo Term and Equivalent IDs
MONDO:0013625:  Parkinson disease 17
UMLS:C3280133: