Crigler-Najjar Syndrome
Disease ID: disease_node_2312
Connections displayed (default: 10).
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| Dbxref | MESH:D003414, MIM:218800, ORDO:205, SNOMEDCT_US_2023_03_01:8933000, UMLS_CUI:C0010324 |
|---|---|
| Subclassof | DOID_2741 |
| Data Source | DOID, MESH |
| Synonyms | Bilirubin UDP glucuronyl transferase deficiency, Crigler Najjar syndrome, Crigler-Najjar syndrome, type I |
| Mesh Id | D003414 |
| Mesh Label | Crigler-Najjar Syndrome |
| Mesh Subclassof | D006933 |
| Doid Label | Crigler-Najjar syndrome |
| Doid 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). OMIM mapping confirmed by DO. [SN]. |
| Disease Node Id | disease_node_2312 |
| Doid Id | DOID_3803 |
| Label | Crigler-Najjar Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Hyperbilirubinemia, Hereditary(ID:disease_node_4077) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Hyperbilirubinemia(ID:disease_node_4076) (Disease)