An X-linked recessive disorder associated with mutations in CLCN5, CHLORIDE CHANNEL 5.

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.

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.

Synonyms: Hypocalcemic Vitamin D Resistant Rickets, Rickets, Hereditary Vitamin D-Resistant, Generalized Resistance To 1,25 Dihydroxyvitamin D, Vitamin D Resistant Rickets, X Linked, Vitamin D-Resistant Rickets With End-Organ Unresponsiveness To 1,25-Dihydroxycholecalciferol, Hypophosphatemic Rickets, X-Linked Recessive, Hereditary Hypophosphatemic Rickets, Rickets, X-Linked Hypophosphatemic, Rickets, Hereditary Hypophosphatemic, Hereditary Vitamin D-Resistant Rickets, Hypophosphatemic Rickets, X Linked Recessive, Rickets, Familial Hypophosphatemic, Hypophosphatemic Rickets, X Linked Dominant, Hypophosphatemic Rickets, Familial, Rickets, Hereditary Vitamin D Resistant, Hereditary Vitamin D Resistant Rickets, X-Linked Hypophosphatemic Rickets, Vitamin D Resistant Rickets, Hereditary, X Linked Hypophosphatemia, Vitamin D-Resistant Rickets, Hereditary, Hypophosphatemic Rickets, Hereditary, Hypophosphatemic Rickets, X-Linked Dominant, Hypophosphatemia, X-Linked, Hypophosphatemic Rickets, X-Linked, Hypocalcemic Vitamin D-Resistant Rickets, Hypophosphatemia, X Linked, X-Linked Hypophosphatemia, Generalized Resistance To 1,25-Dihydroxyvitamin D, Familial Hypophosphatemic Rickets, Vitamin D-Resistant Rickets, X-Linked, Vitamin D Resistant Rickets With End Organ Unresponsiveness To 1,25 Dihydroxycholecalciferol