A hereditary disorder characterized by HYPOPHOSPHATEMIA; RICKETS; OSTEOMALACIA; renal defects in phosphate reabsorption and vitamin D metabolism; and growth retardation. Autosomal and X-linked dominant and recessive variants have been reported.
Also Known As:
X-Linked Hypophosphatemia; Generalized Resistance To 1,25-Dihydroxyvitamin D; Hereditary Hypophosphatemic Rickets; Hereditary Vitamin D-Resistant Rickets; Hypocalcemic Vitamin D-Resistant Rickets; Hypophosphatemia, X-Linked; Hypophosphatemic Rickets, X-Linked Recessive; Rickets, Hereditary Vitamin D-Resistant; Vitamin D-Resistant Rickets With End-Organ Unresponsiveness To 1,25-Dihydroxycholecalciferol; Vitamin D-Resistant Rickets, Hereditary; Vitamin D-Resistant Rickets, X-Linked; Generalized Resistance To 1,25 Dihydroxyvitamin D; Hereditary Vitamin D Resistant Rickets; Hypocalcemic Vitamin D Resistant Rickets; Hypophosphatemia, X Linked; Hypophosphatemic Rickets, Familial; Hypophosphatemic Rickets, Hereditary; Hypophosphatemic Rickets, X Linked Dominant; Hypophosphatemic Rickets, X Linked Recessive; Hypophosphatemic Rickets, X-Linked; Rickets, Familial Hypophosphatemic; Rickets, Hereditary Hypophosphatemic; Rickets, Hereditary Vitamin D Resistant; Vitamin D Resistant Rickets With End Organ Unresponsiveness To 1,25 Dihydroxycholecalciferol; Vitamin D Resistant Rickets, Hereditary; Vitamin D Resistant Rickets, X Linked; X Linked Hypophosphatemia; X-Linked Hypophosphatemic Rickets; Hypophosphatemic Rickets, X-Linked Dominant; Rickets, X-Linked Hypophosphatemic