GTP cyclohydrolase I deficiency with hyperphenylalaninemia
MONDO:0016543
hyperphenylalaninemia due to tetrahydrobiopterin deficiency
is_a
MONDO:0100184
GTP cyclohydrolase I deficiency
is_a
GTPCH deficiency
exact
HPABH4B
related
hyperphenylalaninemia due to GTP cyclohydrolase deficiency
exact
hyperphenylalaninemia, BH4-deficient, B
related
hyperphenylalaninemia, Bh4-deficient, type B
exact
SPAC17A5.13