loading...| Preferred Name |
Crigler-Najjar syndrome |
|
| Synonyms |
Crigler-Najjar syndrome, type I |
|
| Definitions |
OMIM mapping confirmed by DO. [SN]. 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). |
|
| ID |
http://purl.obolibrary.org/obo/DOID_3803 |
|
| comment |
OMIM mapping confirmed by DO. [SN]. |
|
| database_cross_reference |
MESH:D003414 SNOMEDCT_US_2023_03_01:8933000 UMLS_CUI:C0010324 OMIM:218800 ORDO:205 |
|
| 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 |
Crigler-Najjar syndrome, type I Bilirubin UDP glucuronyl transferase deficiency 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 |