loading...| Preferred Name | Gilbert syndrome | |
| Synonyms |
hyperbilirubinemia, Gilbert type hyperbilirubinemia 1 hyperbilirubinemia, Arias type Gilbert disease Gilbert's disease familial cholemia constitutional hyperbilirubinemia hyperbilirubinemia type 1 Constitutional hyperbilirubinemia hereditary nonhemolytic jaundice Gilbert's syndrome Gilbert Disease Gilbert syndrome Gilbert-Meulengracht syndrome |
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| Definitions |
A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin as bilirubin is not being conjugated as a result of reduced glucuronyltransferase activity. An autosomal recessive inherited disorder characterized by unconjugated hyperbilirubinemia, resulting in harmless intermittent jaundice. |
|
| ID |
http://www.ebi.ac.uk/efo/EFO_0005556 |
|
| database_cross_reference |
NCIT:C84729 Orphanet:357 ICD10CM:E80.4 UMLS:C0017551 MEDGEN:4891 SCTID:27503000 MONDO:0007745 NCIt:C84729 MeSH:D005878 MESH:D005878 OMIM:143500 DOID:2739 |
|
| 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. An autosomal recessive inherited disorder characterized by unconjugated hyperbilirubinemia, resulting in harmless intermittent jaundice. |
|
| exactMatch |
http://identifiers.org/snomedct/27503000 http://purl.obolibrary.org/obo/NCIT_C84729 http://identifiers.org/medgen/4891 http://identifiers.org/mesh/D005878 http://purl.obolibrary.org/obo/DOID_2739 |
|
| has_exact_synonym |
Gilbert disease Gilbert's disease familial cholemia constitutional hyperbilirubinemia hyperbilirubinemia type 1 Constitutional hyperbilirubinemia hereditary nonhemolytic jaundice Gilbert's syndrome Gilbert Disease Gilbert syndrome Gilbert-Meulengracht syndrome |
|
| has_related_synonym |
hyperbilirubinemia, Gilbert type hyperbilirubinemia 1 hyperbilirubinemia, Arias type |
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| IAO_0000233 | ||
| id |
EFO:0005556 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo#rare |
|
| label |
Gilbert syndrome |
|
| located_in | ||
| notation |
EFO:0005556 |
|
| preferred label |
Gilbert syndrome |
|
| prefLabel |
Gilbert syndrome |
|
| term editor |
Sirarat Sarntivijai |
|
| subClassOf |