dystonia 5
An autosomal dominant dopa-responsive dystonia in which the cause of the disease is a variation in the GCH1 gene.
MONDO:0100184
GTP cyclohydrolase I deficiency
is_a
MONDO:0971063
autosomal dominant dopa-responsive dystonia
is_a
DRD
related
DYT-GCH1
exact
Dopa-responsive dystonia, autosomal dominant
exact
Dopa-responsive dystonia; Segawa syndrome AD
related
GTP cyclohydrolase 1-deficient dopa-responsive dystonia
exact
Segawa Syndrome
exact
Segawa syndrome, autosomal dominant
exact
dystonia 5
exact
dystonia type 5
exact
dystonia, DOPA-responsive
related
dystonia, DOPA-responsive, with or without hyperphenylalaninemia
exact
dystonia, Dopa-responsive, autosomal dominant
exact
dystonia, progressive, with diurnal variation
exact
dystonia-Parkinsonism with diurnal fluctuation
exact
SPAC17A5.13