- Impairment of fructose metabolism (HP:0011033): An impairment of a fructose metabolic process. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:2056)
- 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: Obligate (HP:0040280). (ORPHA:2056)
- Abnormality of glycolipid metabolism (HP:0010969): An abnormality of glycolipid metabolism. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2056)
- Abnormal erythrocyte enzyme concentration or activity (HP:0030272): An altered level of any enzyme to act as catalysts within erythrocytes. This term includes changes due to altered activity of an enzyme. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2056)
- Abnormal urine carbohydrate level (HP:0031979): Any deviation from the normal concentration of a carbohydrate in the urine. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2056)
These phenotypes are associated with the disease Essential fructosuria (ORPHA:2056).
The following phenotypes are NOT associated with this disease:
- Hyperglycemia (HP:0003074): An increased concentration of glucose in the blood. Evidence: TAS. (ORPHA:2056)