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dopa-responsive dystonia

Disease Summary
Associated Targets (3)
Tclin

1

Tchem

1

Tbio

1


GARD Rare
Mondo Description Dopa-responsive dystonia (DRD) describes a group of neurometabolic disorders characterized by dystonia that typically shows diurnal fluctuations, that responds excellently to levodopa (L-dopa) and that is comprised of autosomal dominant dopa-responsive dystonia (DYT5a), autosomal recessive dopa-responsive dystonia (DYT5b) and dopa responsive dystonia due to sepiapterin reductase (SR) deficiency.
Mondo Term and Equivalent IDs
MONDO:0016812:  dopa-responsive dystonia
GARD:0009817: 
MESH:C538007: 
NCIT:C116719: 
Orphanet:255: 
SCTID:230332007: 
UMLS:C1851920: