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- B7e2b30084d0d26255ba96fd52a642e9e hasDbXref "Orphanet:205" @default.
- B7e2b30084d0d26255ba96fd52a642e9e type Axiom @default.
- B7e2b30084d0d26255ba96fd52a642e9e annotatedProperty IAO_0000115 @default.
- B7e2b30084d0d26255ba96fd52a642e9e annotatedSource MONDO_0009044 @default.
- B7e2b30084d0d26255ba96fd52a642e9e annotatedTarget "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." @default.