Dystonia, dopa-responsive, with or without hyperphenylalaninemia

Disease Term Disease ID Gene Symbol Classification References Source
DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY
612716C0268468MESH:C562657
SPR Unknown
25526675
CTD Disgenet HPO
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE
C2673535
GCH1 Causal — Disgenet
INS Unknown — Disgenet
TSPOAP1 Unknown — Disgenet