CUI Disease Vocabulary Name in Vocabulary Code
C0878676 6-pyruvoyl-tetrahydropterin synthase deficiency DO Bh4-deficient hyperphenylalaninemia A 0090106
C0878676 6-pyruvoyl-tetrahydropterin synthase deficiency MONDO BH4-deficient hyperphenylalaninemia A 0009863
C0878676 6-pyruvoyl-tetrahydropterin synthase deficiency MSH 6-pyruvoyl-tetrahydropterin synthase deficiency C535325
C0878676 6-pyruvoyl-tetrahydropterin synthase deficiency NCI HPABH4A C138171
C0878676 6-pyruvoyl-tetrahydropterin synthase deficiency NCI Hyperphenylalaninemia, BH4-deficient A C138171
C0878676 6-pyruvoyl-tetrahydropterin synthase deficiency NCI 6-pyruvoyl Tetrahydropterin Synthase Deficiency C138171
C0878676 6-pyruvoyl-tetrahydropterin synthase deficiency OMIM 6-PYRUVOYL-TETRAHYDROPTERIN SYNTHASE DEFICIENCY 261640
C0878676 6-pyruvoyl-tetrahydropterin synthase deficiency OMIM HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A 261640
C0878676 6-pyruvoyl-tetrahydropterin synthase deficiency ORDO 6-pyruvoyl-tetrahydropterin synthase deficiency 13