| Disease ID | Source | Name | Description |
| 211900 | OMIM | Tumoral calcinosis, hyperphosphatemic, familial, 1 (HFTC1) | A form of hyperphosphatemic tumoral calcinosis, a rare autosomal recessive metabolic disorder that manifests with hyperphosphatemia and massive calcium deposits in the skin and subcutaneous tissues. Some patients have recurrent, transient, painful swellings of the long bones associated with the radiographic findings of periosteal reaction and cortical hyperostosis and absence of skin involvement. The disease is caused by variants affecting the gene represented in this entry. |