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Rotor syndrome

Disease Summary
Associated Targets (2)
Tchem

2


GARD Rare
Mondo Description Rotor syndrome (RT) is a benign, inherited liver disorder characterized by chronic, predominantly conjugated, nonhemolytic hyperbilirubinemia with normal liver histology.
Uniprot Description An autosomal recessive form of primary conjugated hyperbilirubinemia. Affected individuals develop mild jaundice not associated with hemolysis shortly after birth or in childhood. They have delayed plasma clearance of the unconjugated anionic dye bromsulphthalein and prominent urinary excretion of coproporphyrin I. Hepatic pigmentation is normal.
Mondo Term and Equivalent IDs
MONDO:0009379:  Rotor syndrome
GARD:0000218: 
Orphanet:3111: 
SCTID:32891000: 
UMLS:C0220991: