- Nephrocalcinosis (HP:0000121, a Human Phenotype Ontology term): Nephrocalcinosis is the deposition of calcium salts in renal parenchyma. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:93599)
- Kidney stone (HP:0000787, a Human Phenotype Ontology term): Kidney stones (calculi) are mineral concretions in the renal calyces and pelvis that are found free or attached to the renal papillae. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:93599)
- Hyperoxaluria (HP:0003159, a Human Phenotype Ontology term): Increased excretion of oxalates in the urine. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:93599)
- Recurrent urinary tract infections (HP:0000010, a Human Phenotype Ontology term): Repeated infections of the urinary tract. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:93599)
- Ureteral obstruction (HP:0006000, a Human Phenotype Ontology term): Obstruction of the flow of urine through the ureter. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:93599)
- Renal insufficiency (HP:0000083, a Human Phenotype Ontology term): A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:93599)
These phenotypes are associated with the disease Primary hyperoxaluria type 2 (ORPHA:93599, an Orphanet rare-disease identifier).