| Disease ID | Source | Name | Description |
| 613388 | OMIM | Fanconi renotubular syndrome 2 (FRTS2) | A form of Fanconi renotubular syndrome, a disease due to a generalized dysfunction of the proximal kidney tubule resulting in decreased solute and water reabsorption. Patients have polydipsia and polyuria with phosphaturia, glycosuria and aminoaciduria. They may develop hypophosphatemic rickets or osteomalacia, acidosis and a tendency toward dehydration. Some eventually develop renal insufficiency. FRTS2 inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry. |
| 612286 | OMIM | Nephrolithiasis/osteoporosis, hypophosphatemic, 1 (NPHLOP1) | A disease characterized by decreased renal phosphate absorption, renal phosphate wasting, hypophosphatemia, hyperphosphaturia, hypercalciuria, nephrolithiasis and osteoporosis. The disease is caused by variants affecting the gene represented in this entry. |
| 616963 | OMIM | Hypercalcemia, infantile, 2 (HCINF2) | An autosomal recessive form of hypercalcemia, a disorder characterized by abnormally high level of calcium in the blood, failure to thrive, vomiting, dehydration, and nephrocalcinosis. The disease is caused by variants affecting the gene represented in this entry. |