- Jaundice (HP:0000952): Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3111)
- Conjugated hyperbilirubinemia (HP:0002908). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3111)
- Abnormal circulating enzyme concentration or activity (HP:0012379): Concentration or activity of an enzyme is above or below the limits of normal in the blood circulation. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3111)
- Hyperbilirubinemia (HP:0002904): An increased amount of bilirubin in the blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3111)
- Porphyrinuria (HP:0010473): Abnormally increased excretion of porphyrins in the urine. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3111)
- Bilirubinuria (HP:0031811): Presence of conjugated bilirubin in the urine. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3111)
- Intermittent jaundice (HP:0001046): Jaundice that is sometimes present, sometimes not. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3111)
- Conjunctival icterus (HP:0032106): Conjunctival icterus is a condition where there is yellowing of the whites of the eyes. This is most commonly seen in patients who have liver disease. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3111)
These phenotypes are associated with the disease Rotor syndrome (ORPHA:3111).
The following phenotypes are NOT associated with this disease:
- Pruritus (HP:0000989): Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus. Evidence: TAS. (ORPHA:3111)
- Storage in hepatocytes (HP:0031137): Hepatocytes (liver parenchymal cells) exhibit a bloated appearance because of expansion of the cytoplasm by accumulated material. Evidence: TAS. (ORPHA:3111)