Disease Term Disease ID Gene Symbol References
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 C3275508 PIGA 26993267, 25885527, 24706016, 22305531, 29656098, 27604308, 24259288, 22514539, 24259184
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 C3279775 PIGN 28327575, 26419326, 26879448, 27038415, 21493957, 26394714, 24253414, 27604308
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 C3809356 PIGT 24906948, 25943031, 23733340, 23636107, 28327575
Multiple congenital anomalies-hypotonia-seizures syndrome 280633 PIGN
Multiple congenital anomalies-hypotonia-seizures syndrome type 2 300496 PIGA