eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | tumoral calcinosis |
| Comorbidity | C0085681|hyperphosphatemia |
| Sentences | 1 |
| PubMedID- 21854633 | Gain-of-function mutations of fgf23 lead to autosomal dominant hypophosphatemia/osteomalacia [5], while its loss-of-function mutations are causative of recessive familial tumoral calcinosis with hyperphosphatemia [6,7]. |
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