Definition: An X-linked disorder characterized by HYPOPHOSPHATEMIA; RICKETS; OSTEOMALACIA; renal defects in phosphate reabsorption and vitamin D metabolism; and growth retardation. This disorder is caused by mutations in PHEX PHOSPHATE REGULATING NEUTRAL ENDOPEPTIDASE.
Other names X-Linked Hypophosphatemic Rickets; X Linked Hypophosphatemia; Vitamin D-Resistant Rickets; Vitamin D Resistant Rickets, X Linked; Rickets, Vitamin D Resistant; Ricket, Hypophosphatemic; Hypophosphatemic Rickets, X-Linked; Hypophosphatemic Rickets, X Linked Dominant; Hypophosphatemic Rickets; Hypophosphatemic Ricket; Hypophosphatemia, X Linked; X-Linked Hypophosphatemia; Vitamin D-Resistant Rickets, X-Linked; Hypophosphatemia, X-Linked; Hypophosphatemia, Vitamin D-Resistant Rickets; Rickets, X-Linked Hypophosphatemic; Rickets, Vitamin D-Resistant; Rickets, Hypophosphatemic