Term Name: | hereditary hypophosphatemic rickets with hypercalciuria |
---|---|
Synonyms: | |
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. |
Ontology: | Human Disease [DOID:0050947] ( DOID:0050947 ) |