DISEASES

Disease-gene associations mined from literature

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