Crigler-Najjar syndrome

Summary

DOID:3803 - Crigler-Najjar syndrome

Disease Ontology 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).

Synonyms: Bilirubin UDP glucuronyl transferase deficiency, Crigler Najjar syndrome, Crigler-Najjar syndrome, type I, Crigler-Najjar syndrome, type I (disorder)

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: ugt1a1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0009044 - Crigler-Najjar syndrome

MONDO:0009044 - Crigler-Najjar syndrome

MIM:

MIM:218800 - CRIGLER-NAJJAR SYNDROME, TYPE I

MIM:218800 - CRIGLER-NAJJAR SYNDROME, TYPE I

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): bilirubin metabolic disorder (is_a)