Familial Hypophosphatemic Rickets
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.
Year introduced: 2014 (2007)
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Tree Number(s): 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
MeSH Unique ID: D053098
Entry Terms:
- Hypophosphatemic Rickets, Familial
- Rickets, Familial Hypophosphatemic
- Generalized Resistance To 1,25-Dihydroxyvitamin D
- Generalized Resistance To 1,25 Dihydroxyvitamin D
- Hypocalcemic Vitamin D-Resistant Rickets
- Hypocalcemic Vitamin D Resistant Rickets
- Rickets, Hereditary Vitamin D-Resistant
- Rickets, Hereditary Vitamin D Resistant
- Vitamin D-Resistant Rickets With End-Organ Unresponsiveness To 1,25-Dihydroxycholecalciferol
- Vitamin D Resistant Rickets With End Organ Unresponsiveness To 1,25 Dihydroxycholecalciferol
- Vitamin D-Resistant Rickets, Hereditary
- Vitamin D Resistant Rickets, Hereditary
- Hereditary Vitamin D-Resistant Rickets
- Hereditary Vitamin D Resistant Rickets
- Hereditary Hypophosphatemic Rickets
- Hypophosphatemic Rickets, Hereditary
- Rickets, Hereditary Hypophosphatemic
- Hypophosphatemic Rickets, X-Linked Dominant
- Hypophosphatemic Rickets, X Linked Dominant
- Hypophosphatemic Rickets, X-Linked Recessive
- Hypophosphatemic Rickets, X Linked Recessive
- Vitamin D-Resistant Rickets, X-Linked
- Vitamin D Resistant Rickets, X Linked
- Rickets, X-Linked Hypophosphatemic
- Hypophosphatemic Rickets, X-Linked
- X-Linked Hypophosphatemic Rickets
- X-Linked Hypophosphatemia
- X Linked Hypophosphatemia
- Hypophosphatemia, X-Linked
- Hypophosphatemia, X Linked
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