TH-deficient dopa-responsive dystonia
Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD) to progressive infantile encephalopathy.
MONDO:0006025
autosomal recessive disease
is_a
MONDO:0016812
dopa-responsive dystonia
is_a
MONDO:0017307
disorder of tyrosine metabolism
is_a
MONDO:0100064
tyrosine hydroxylase deficiency
is_a
MONDO:0100545
hereditary neurological disease
is_a
DOPA responsive dystonia, autosomal recessive
related
DYT5b
exact
Dopa-responsive dystonia, autosomal recessive
exact
Segawa syndrome, recessive
exact
Tyrosine Hydroxylase Deficiency
broad
autosomal recessive Segawa syndrome
exact
autosomal recessive dopa-responsive dystonia
exact
dopa-responsive dystonia, autosomal recessive
exact
dystonia, DOPA responsive, autosomal recessive
related
tyrosine hydroxylase-deficient dopa-responsive dystonia
exact