Familial Hypophosphatemic Rickets

**Definition:** 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.

**Tree numbers:** - C05.116.198.816.875.500 - C12.050.351.968.419.815.647.500 - C12.200.777.419.815.647.500 - C12.950.419.815.647.500 - C16.320.565.618.544.500 - C16.320.831.647.500 - C18.452.104.816.875.500 - C18.452.174.845.875.500 - C18.452.648.618.544.500 - C18.452.750.400.500.500 - C18.452.750.400.750.500 - C18.654.521.500.133.770.734.875.500

**Synonyms:** - Generalized Resistance To 1,25-Dihydroxyvitamin D - Hypocalcemic Vitamin D-Resistant Rickets - Rickets, Hereditary Vitamin D-Resistant - Vitamin D-Resistant Rickets With End-Organ Unresponsiveness To 1,25-Dihydroxycholecalciferol - Vitamin D-Resistant Rickets, Hereditary - Hereditary Vitamin D-Resistant Rickets - Hereditary Hypophosphatemic Rickets