Disease Term Disease ID Gene Symbol References
6-pyruvoyl-tetrahydropterin synthase deficiency C0878676, 13 GCH1
PTS 3297709, 11388593, 20059486, 22237589, 9222757, 7698774, 9450907, 21933604, 19234759, 10874306, 9159737, 23942198, 19280650, 8707300, 27830117, 23138986, 10220141, 27246466, 7493990, 16917893, 11438997, 10531334, 17160954, 19350512, 25758715, 11694255, 11517215, 10585341, 27604308, 18505119, 8178819, 8801112, 10319579, 11916314, 21542064, 25456745, 26919687, 27629047, 25304915, 25525159