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Gilbert syndrome
Summary
- Synonym
-
- Constitutional hyperbilirubinemia
- Gilbert's disease
- Gilbert's syndrome
- Gilbert-Meulengracht syndrome
- hereditary nonhemolytic jaundice
- Definition
- A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin as bilirubin is not being conjugated as a result of reduced glucuronyltransferase activity.
- Super Class
- bilirubin metabolic disorder
External Links
- Disease Ontology
- DOID:2739
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- GARD
- WikiPathways (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P22309 | UDP-glucuronosyltransferase 1A1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000952 | Jaundice |
| HP:0002910 | Elevated circulating hepatic transaminase concentration |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0008282 | Unconjugated hyperbilirubinemia |
| HP:0001399 | Hepatic failure |
