syndromic disease hereditary hyperbilirubinemia Crigler-Najjar syndrome https://www.malacards.org/card/crigler_najjar_syndrome_type_i Crigler Najjar Syndrome Crigler-Najjar syndrome NORD:1016 NANDO:2200941 MEDGEN:1789261 NCIT:C84656 NANDO:2100272 UMLS:C5551003 bilirubin UDP glucuronyl transferase deficiency bilirubin uridinediphosphate glucuronosyltransferase deficiency MedDRA:10011386 DOID:3803 GARD:0016526 MONDO:0009044 hereditary unconjugated hyperbilirubinemia Crigler-Najjar syndrome (CNS) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to a hepatic deficit of bilirubin glucuronosyltransferase (GT) activity. Two types have been described, CNS types 1 and 2. CNS1 is characterized by a complete deficit of the enzyme and is unaffected by phenobarbital induction therapy, whereas the enzymatic deficit is partial and responds to phenobarbital in CNS2. icd11.foundation:291439191 Orphanet:205 MESH:D003414 SCTID:28259009 ICD10CM:E80.5 bilirubin-UGT deficiency UGT deficiency