Human genes for hereditary hypophosphatemic rickets with hypercalciuria
Hereditary hypophosphatemic rickets with hypercalciuria [DOID:0050947]
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.
Synonyms: hereditary hypophosphatemic rickets with hypercalciuria, DOID:0050947, familial hypophosphatemic rickets with hypercalciuria, hereditary hypophosphatemic rickets with hypercalciurias