has material basis in germline mutation in ASS1 citrullinemia type I https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4985 https://www.malacards.org/card/citrullinemia_classic citrullinemia type 1 argininosuccinic acid synthetase deficiency argininosuccinic acid synthase deficiency MEDGEN:1648491 citrullinemia 1 GARD:0006114 ASS deficiency NCIT:C150601 Citrullinemia type I is a rare autosomal recessive urea cycle defect characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting in the neonatal form (Acute neonatal citrullinemia type I) and by variable hyperammonemia in the later-onset form (adult-onset citrullinemia type I). OMIM:215700 citrullinemia citrullinemia type I DOID:0070340 argininosuccinate synthetase deficiency argininosuccinate synthase deficiency SCTID:398680004 NANDO:1200805 Orphanet:247525 UMLS:C4721769 MONDO:0008988 NANDO:2200480 CTNL1 MedDRA:10058298 classic citrullinemia CTLN1 citrullinemia urea cycle disorder or inherited hyperammonemia