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Hypophosphatemia, Familial

An inherited condition of abnormally low serum levels of PHOSPHATES (below 1 mg/liter) which can occur in a number of genetic diseases with defective reabsorption of inorganic phosphorus by the PROXIMAL RENAL TUBULES. This leads to phosphaturia, HYPOPHOSPHATEMIA, and disturbances of cellular and organ functions such as those in X-LINKED HYPOPHOSPHATEMIC RICKETS; OSTEOMALACIA; and FANCONI SYNDROME.

Year introduced: 1965

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Tree Number(s): C12.777.419.815.647, C13.351.968.419.815.647, C16.320.565.618.544, C16.320.565.861.647, C18.452.648.618.544, C18.452.648.861.647, C18.452.750.400.500

MeSH Unique ID: D007015

Entry Terms:

  • Familial Hypophosphatemias
  • Hypophosphatemias, Familial
  • Familial Hypophosphatemia
  • Phosphaturia
  • Diabetes, Phosphate
  • Hyperphosphaturia
  • Phosphate Diabetes

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