has material basis in germline mutation in OTC ornithine carbamoyltransferase deficiency https://github.com/monarch-initiative/mondo/issues/4985 https://www.malacards.org/card/ornithine_transcarbamylase_deficiency_hyperammonemia_due_to NANDO:2200479 Orphanet:664 NANDO:1200804 MedDRA:10052450 GARD:0008391 MONDO:0010703 OTC deficiency OTCD EFO:0007409 ornithine transcarbamylase deficiency SCTID:80908008 NCIT:C84957 UMLS:C0268542 OMIM:311250 MEDGEN:75692 OCT deficiency icd11.foundation:1822444026 ornithine carbamoyltransferase deficiency DOID:9271 Ornithine transcarbamylase deficiency (OTCD) is a disorder of urea cycle metabolism and ammonia detoxification characterized by either a severe, neonatal-onset disease found almost exclusively in males, or later-onset (partial) forms of the disease. Both present with episodes of hyperammonemia that can be fatal and which can lead to neurological complications. ornithine carbamoyltransferase deficiency disease MESH:D020163 urea cycle disorder or inherited hyperammonemia