CUI Disease Vocabulary Name in Vocabulary Code
C2673535 DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) MONDO GTP-cyclohydrolase I deficiency 0009314
C2673535 DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) MONDO TH-deficient dopa-responsive dystonia 0011551
C2673535 DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) MSH Segawa syndrome, autosomal recessive C537537
C2673535 DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) MSH Th-Deficient Drd C537537
C2673535 DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) OMIM SEGAWA SYNDROME, AUTOSOMAL RECESSIVE 605407
C2673535 DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) ORDO Autosomal recessive dopa-responsive dystonia 101150
C2673535 DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) ORDO GTP cyclohydrolase I deficiency 2102