Crigler-Najjar syndrome type 1

MONDO:0021020

Crigler-Najjar syndrome type 1 (CNS1) is the most severe form of CNS, a hereditary disorder of hepatic bilirubin conjugation, characterized by severe neonatal unconjugated hyperbilirubinemia due to a complete absence of hepatic bilirubin glucuronosyltransferase (BGT).

Also known as: Crigler-Najjar syndrome, type 1, Crigler-Najjar syndrome, type I, UGT deficiency type 1, bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1, bilirubin-UGT deficiency type 1, hereditary unconjugated hyperbilirubinemia type 1, hyperbilirubinemia, Crigler-Najjar type 1, Crigler Najjar syndrome, type 1

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