Dopa-responsive dystonia

Disease Term Disease ID Gene Symbol Classification References Source
AUTOSOMAL DOMINANT DOPA-RESPONSIVE DYSTONIA
98808
GCH1 Unknown — Orphanet
IMPDH2 Unknown
34305140
Orphanet
NR4A2 Unknown
31922365
Orphanet
DOPA-RESPONSIVE DYSTONIA
C1851920
GCH1 Unknown — Disgenet
IMPDH2 Unknown — Disgenet
NR4A2 Unknown — Disgenet
SPR Unknown — Disgenet
DOPA-RESPONSIVE DYSTONIA DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY
70594MONDO:0012994
SPR Causal
11443547
ClinGen ClinVar Disgenet Orphanet
DYSTONIA, DOPA-RESPONSIVE
128230MESH:C538007
GCH1 Unknown
10825351
CTD HPO