- 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. (OMIM:300323)
- X-linked recessive inheritance (HP:0001419, a Human Phenotype Ontology term): A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele. Evidence: TAS. (OMIM:300323)
- 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. (OMIM:300323)
- Podagra (HP:0001854, a Human Phenotype Ontology term): Gout affecting the Metatarsophalangeal joint of big toe. Evidence: TAS. (OMIM:300323)
- Hyperuricosuria (HP:0003149, a Human Phenotype Ontology term): An abnormally high level of uric acid in the urine. Evidence: TAS. (OMIM:300323)
- Hyperuricemia (HP:0002149, a Human Phenotype Ontology term): The concentration of uric acid in the blood circulation is above the upper limit of normal. Evidence: TAS. (OMIM:300323)
These phenotypes are associated with the disease hypoxanthine guanine phosphoribosyltransferase partial deficiency (OMIM:300323, an entry in Online Mendelian Inheritance in Man).