| Disease ID | Source | Name | Description |
| 241520 | OMIM | Hypophosphatemic rickets, autosomal recessive, 1 (ARHR1) | A hereditary form of hypophosphatemic rickets, a disorder of proximal renal tubule function that causes phosphate loss, hypophosphatemia and skeletal deformities, including rickets and osteomalacia unresponsive to vitamin D. Symptoms are bone pain, fractures and growth abnormalities. The disease is caused by variants affecting the gene represented in this entry. |