has material basis in germline mutation in CPS1 carbamoyl phosphate synthetase I deficiency disease https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4985 https://www.malacards.org/card/carbamoyl_phosphate_synthetase_i_deficiency_hyperammonemia_due_to MedDRA:10058297 Carbamoyl-phosphate synthetase 1 deficiency (CPS1D) is a rare and severe disorder of urea cycle metabolism most commonly characterized by either a neonatal-onset of severe hyperammonemia that occurs few days after birth and manifests with lethargy, vomiting, hypothermia, seizures, coma and death or a presentation outside the newborn period at any age with (sometimes) milder symptoms of hyperammonemia. MESH:D020165 UMLS:C4082171 carbamoyl-phosphate synthetase I deficiency OMIM:237300 NORD:889 carbamoyl phosphate synthetase I deficiency disease MEDGEN:907954 hyperammonemia due to carbamoyl phosphate synthetase 1 deficiency carbamoyl-phosphate synthase deficiency disease carbamoyl phosphate synthetase deficiency Orphanet:147 NCIT:C84612 DOID:9280 SCTID:62522004 carbamoyl-phosphate synthetase deficiency CPS1D MONDO:0009376 CPS1 deficiency NANDO:1200803 GARD:0007269 icd11.foundation:327894003 NANDO:2200478 EFO:0007193 carbamyl phosphate synthetase (CPS) deficiency carbamoylphosphate synthetase I deficiency urea cycle disorder or inherited hyperammonemia