Term Name: | Crigler-Najjar syndrome |
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Synonyms: | Bilirubin UDP glucuronyl transferase deficiency, Crigler Najjar syndrome, Crigler-Najjar syndrome, type I |
Definition: | A bilirubin metabolic disorder that involves a build up of bilirubin as bilirubin is not being broken down as a result of a lack or deficiency of the enzyme uridine diphosphate glycosyltransferase (UGT). |
Ontology: | Human Disease [DOID:3803] ( DOID:3803 ) |