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MIRAGE
hereditary hypophosphatemic rickets with hypercalciuria
Summary
- Definition
- A rickets that has_material_basis_in increased serum 1,25-dihydroxyvitamin D levels and increased intestinal calcium absorption and is characterized by the presence of hypophosphatemia secondary to renal phosphate wasting, radiographic and/or histologic evidence of rickets, limb deformities, muscle weakness, and bone pain.
- Super Class
- digenic disease rickets
External Links
- Disease Ontology
- DOID:0050947
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q06495 | Sodium-dependent phosphate transport protein 2A | |
| Q8N130 | Sodium-dependent phosphate transport protein 2C |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q60825 | Sodium-dependent phosphate transport protein 2A |
