has material basis in germline mutation in ASL argininosuccinic aciduria https://github.com/monarch-initiative/mondo/issues/4985 https://rarediseases.info.nih.gov/diseases/5843/argininosuccinic-aciduria https://www.malacards.org/card/argininosuccinic_aciduria icd11.foundation:439383288 urea cycle disorder, arginino succinase type ASA deficiency NCIT:C84569 argininosuccinate acidemia Argininosuccinic aciduria (ASA) is a disorder of urea cycle metabolism most commonly characterized by either a severe, neonatal-onset form that manifests with hyperammonemia accompanied with vomiting, hypothermia, lethargy and poor feeding in the first few days of life, or late-onset forms (any age outside the newborn period) that manifest with stress or infection-induced episodic hyperammonemia or, in some, behavioral abnormalities and/or learning disabilities. Patients often manifest liver dysfunction. NORD:802 DOID:14755 MEDGEN:78687 NANDO:1200806 arginino succinase deficiency SCTID:41013004 argininosuccinic acid lyase deficiency inborn error of urea synthesis, arginino succinic type argininosuccinase deficiency argininosuccinatelyase deficiency GARD:0005843 MONDO:0008815 MedDRA:10058299 MESH:D056807 OMIM:207900 UMLS:C0268547 argininosuccinicaciduria NANDO:2200481 Orphanet:23 ASL deficiency argininosuccinic aciduria urea cycle disorder or inherited hyperammonemia