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| Term | hereditary hypophosphatemic rickets with hypercalciuria | ID (Ontology) | DOID:0050947 (Human Disease) |
| 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. | ||
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bone remodeling disease |__rickets__________ polygenic disease | |__digenic disease__| hereditary hypophosphatemic rickets with hypercalciuria |
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digenic disease rickets |
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| MIM:241530 | |||