loading...| Preferred Name |
Crigler-Najjar syndrome |
| Synonyms |
Bilirubin UDP glucuronyl transferase deficiency |
| Definitions |
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). OMIM mapping confirmed by DO. [SN]. |
| ID |
http://purl.obolibrary.org/obo/DOID_3803 |
| comment |
OMIM mapping confirmed by DO. [SN]. |
| database_cross_reference |
MESH:D003414 ORDO:205 UMLS_CUI:C0010324 SNOMEDCT_US_2022_09_01:8933000 OMIM:218800 |
| 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). |
| has exact match |
MESH:D003414 |
| has exact synonym |
Bilirubin UDP glucuronyl transferase deficiency Crigler-Najjar syndrome, type I Crigler Najjar syndrome |
| has_obo_namespace |
disease_ontology |
| id |
DOID:3803 |
| in_subset | |
| label |
Crigler-Najjar syndrome |
| notation |
DOID:3803 |
| prefLabel |
Crigler-Najjar syndrome |
| subClassOf |