| Metadata | |
|---|---|
| ID | DOID:3803 |
| Name | Crigler-Najjar syndrome |
| 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). https://ghr.nlm.nih.gov/condition/crigler-najjar-syndrome |
| Xrefs |
SNOMEDCT_US_2023_03_01:8933000 |
| Subsets |
DO_rare_slim |
| Synonyms |
Bilirubin UDP glucuronyl transferase deficiency [EXACT] Crigler Najjar syndrome [EXACT] Crigler-Najjar syndrome, type I [EXACT] |
| Parent Relationships |