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autosomal dominant Parkinson disease 8

Disease Summary
Associated Targets (1)
Tchem

1


Mondo Description Any Parkinson disease in which the cause of the disease is a mutation in the LRRK2 gene.
Uniprot Description A slowly progressive neurodegenerative disorder characterized by bradykinesia, rigidity, resting tremor, postural instability, neuronal loss in the substantia nigra, and the presence of neurofibrillary MAPT (tau)-positive and Lewy bodies in some patients.
Disease Ontology Description A Parkinson's disease that has_material_basis_in heterozygous mutation in the dardarin encoding gene (LRRK2) on chromosome 12q12.
Mondo Term and Equivalent IDs
MONDO:0011764:  autosomal dominant Parkinson disease 8
UMLS:C1846862: