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  • Hypophosphatemic rickets due to heterozygous mutation(s) in the FGF23 gene, encoding fibroblast growth factor 23, a protein involved in phosphate homeostasis. The altered protein is resistant to cleavage, resulting in elevated FGF23 concentrations; the condition is characterized by isolated renal phosphate wasting, resulting in hypophosphatemia, accompanied by inappropriately normal 1,25-dihydroxyvitamin D (calcitriol) concentrations.
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