Disease Term Disease ID Gene Symbol Classification References Source
AUTOSOMAL DOMINANT DOPA-RESPONSIVE DYSTONIA GCH1 Unknown Orphanet
IMPDH2 Unknown Orphanet
NR4A2 Unknown Orphanet
DOPA-RESPONSIVE DYSTONIA GCH1 Unknown Disgenet
IMPDH2 Unknown Disgenet
NR4A2 Unknown Disgenet
SPR Unknown Disgenet
DOPA-RESPONSIVE DYSTONIA DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY SPR Causal ClinGen ClinVar Disgenet Orphanet