Carbamoyl phosphate synthase deficiency
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| Carbamoyl-Phosphate Synthase I Deficiency Disease | C0751753 | CPS1 | 15617192, 9862865, 8486760, 27150549, 20800523, 29801986, 17310273, 22173106, 27834067, 3545062, 19793055, 9711878, 12655559 |
| Carbamoyl Phosphate Synthase 1 Deficiency | C4085580 | CPS1 | 17310273, 8486760 |
| Carbamoyl-phosphate synthetase 1 deficiency | 147 | CPS1 | |
| Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency | C4082171 | CPS1 | 21120950, 16737834, 9686343, 24816252, 17310273, 27150549, 23649895, 12955727, 24813853, 9711878, 28526534, 22173106, 15876373, 20855223, 19793055, 12655559, 27604308, 28007335, 26440671, 11474210, 8486760, 20578160, 11388595, 15617192, 15164414 |