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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

MESH:D003414

OMIM:218800

ORDO:205

SNOMEDCT_US_2023_03_01:8933000

UMLS_CUI:C0010324

Subsets

DO_rare_slim

Synonyms

Bilirubin UDP glucuronyl transferase deficiency [EXACT]

Crigler Najjar syndrome [EXACT]

Crigler-Najjar syndrome, type I [EXACT]

Parent Relationships

is_a bilirubin metabolic disorder

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