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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
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
Related Genes
