citrullinemia citrin deficiency https://github.com/monarch-initiative/mondo/issues/4985 Orphanet:247582 SCTID:429735007 UMLS:C1997910 NANDO:2200483 MEDGEN:372684 citrin deficiency GARD:0020661 icd11.foundation:348535193 Citrin deficiency is a rare autosomal recessive urea cycle defect characterized clinically by recurring episodes of hyperammonemia and associated neuropsychiatric symptoms in the adult-onset form (citrullinemia type II), and by transient cholestasis and variable hepatic dysfunction in the neonatal form (neonatal intrahepatic cholestasis due to citrin deficiency). MONDO:0016602 NANDO:1200978 urea cycle disorder or inherited hyperammonemia