Carbamoyl phosphate synthetase deficiency
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY DISEASE | CPS1 | Unknown | — | ClinGen GenCC | |
| CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO | CPS1 | Unknown | — | HPO | |
| CARBAMOYL-PHOSPHATE SYNTHASE I DEFICIENCY DISEASE | CPS1 | Unknown | CTD Disgenet | ||
| CARBAMOYL-PHOSPHATE SYNTHETASE 1 DEFICIENCY | CPS1 | Unknown | Orphanet | ||
| CARBAMOYL-PHOSPHATE SYNTHETASE 2, ASPARTATE TRANSCARBAMYLASE, AND DIHYDROOROTASE CONGENITAL DISORDER OF GLYCOSYLATION | CAD | Unknown | — | Disgenet |