Crigler-Najjar syndrome

Term ID

DOID:3803

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). https://ghr.nlm.nih.gov/condition/crigler-najjar-syndrome

References

• MESH:D003414
• MIM:218800
• ORDO:205
• SNOMEDCT_US_2023_03_01:8933000
• UMLS_CUI:C0010324

Ontology

Human Disease   ( DOID:3803 )