FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Crigler-Najjar syndrome ID (Ontology) DOID:3803 (Human Disease)
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).
Also Known As "Bilirubin UDP glucuronyl transferase deficiency" ; "Crigler Najjar syndrome" ; "Crigler-Najjar syndrome, type I"
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 Genes
 Crigler-Najjar syndrome      24
 for disease ribbon | Crigler-Najjar syndrome      24
 model of | Crigler-Najjar syndrome      24
Spanning Tree (Parents/Children)
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  inherited metabolic disorder
   |__bilirubin metabolic disorder
       |__Crigler-Najjar syndrome  24 rec.
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Is a bilirubin metabolic disorder
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Synonyms
  • "Bilirubin UDP glucuronyl transferase deficiency" EXACT
    "Crigler Najjar syndrome" EXACT
    "Crigler-Najjar syndrome, type I" EXACT
Secondary IDs
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MESH:D003414
MIM:218800
ORDO:205
SNOMEDCT_US_2023_03_01:8933000
UMLS_CUI:C0010324