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DO Term : Crigler-Najjar syndrome [DOID:3803] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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).
  • synonyms:
  • Crigler Najjar syndrome,
  • ORDO:205,
  • MESH:D003414,
  • Crigler-Najjar syndrome, type I,
  • SNOMEDCT_US_2023_03_01:8933000,
  • UMLS_CUI:C0010324,
  • OMIM:218800,
  • 218800,
  • Bilirubin UDP glucuronyl transferase deficiency
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Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents