hypophosphatemic bone disease
- hypophosphatemic bone disease
- an autosomal dominant disorder clinically resembling a mild form of X-linked hypophosphatemia and similarly due to a defect in renal tubular function, but usually showing osteomalacia without radiographic evidence of rickets and responding to calcitriol without supplemental phosphate in at least some cases.
Medical dictionary.
2011.
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Autosomal dominant hypophosphatemic rickets — (ADHR) is a rare hereditary disease in which excessive loss of phosphate in the urine leads to poorly formed bones (rickets), bone pain, and tooth abscesses. ADHR is caused by a mutation in the fibroblast growth factor 23 (FGF23). ADHR affects… … Wikipedia
HBD — has been drinking; homozygous by descent; hydroxybutyric dehydrogenase; hypophosphatemic bone disease … Medical dictionary
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X-linked hypophosphatemia — a form of familial hypophosphatemic rickets, with X linked dominant inheritance and caused by mutation at locus Xp22.2 p22.1; the bone disease is due to defects in the resorption of phosphate by the proximal renal tubule and in the regulation of… … Medical dictionary
Rickets — A disease of infants and children that disturbs normal bone formation (ossification). Rickets is a failure to mineralize bone. This softens bone (producing osteomalacia) and permits marked bending and distortion of bones. Up through the first… … Medical dictionary
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