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autosomal recessive Parkinson disease 14

Disease Summary
Associated Targets (1)
Tchem

1


GARD Rare
Mondo Description Adult-onset dystonia-parkinsonism is a rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline.
Uniprot Description An adult-onset progressive neurodegenerative disorder characterized by parkinsonism, dystonia, severe cognitive decline, cerebral and cerebellar atrophy and absent iron in the basal ganglia on magnetic resonance imaging.
Disease Ontology Description A late-onset Parkinson disease that has_material_basis_in homozygous mutation in the PLA2G6 gene on chromosome 22q13.
Mondo Term and Equivalent IDs
MONDO:0013060:  autosomal recessive Parkinson disease 14
GARD:0012568: 
MESH:C567844: 
Orphanet:199351: 
SCTID:720466001: 
UMLS:C2751842: