| Disease ID | Source | Name | Description |
| 617053 | OMIM | MIRAGE syndrome (MIRAGE) | A form of syndromic adrenal hypoplasia characterized by myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy. The disease is caused by variants affecting the gene represented in this entry. |
| 610455 | OMIM | Tumoral calcinosis, normophosphatemic, familial (NFTC) | An uncommon, life-threatening disorder characterized by progressive deposition of calcified masses in cutaneous and subcutaneous tissues. Serum phosphate levels are normal. Clinical features include painful calcified ulcerative lesions and massive calcium deposition in the mid- and lower dermis, severe skin and bone infections, erythematous papular skin eruption in infancy, conjunctivitis, and gingivitis. NFTC shows a striking resemblance to acquired dystrophic calcinosis, in which tissue calcification occurs as a consequence of tissue injury/inflammation. The disease is caused by variants affecting the gene represented in this entry. |