X-linked hypophosphatemic rickets
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autosomal dominant hypophosphatemic rickets — (ADHR), autosomal dominant vitamin D–resistant rickets a form of familial hypophosphatemic rickets with autosomal dominant inheritance and caused by mutation in the FGF23 gene (locus: 12p13.3), which encodes a member of the fibroblast growth… … Medical dictionary
familial hypophosphatemic rickets — any of several inherited disorders of proximal renal tubular function causing phosphate loss, hypophosphatemia, and skeletal deformities, including rickets and osteomalacia. The group is genetically heterogeneous and clinically variable. See X… … Medical dictionary
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
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… … Medical dictionary
X-linked hypophosphatemia — Infobox Disease Name = PAGENAME Caption = DiseasesDB = 6513 ICD10 = ICD10|E|83|3|e|70 ICD9 = ICD9|275.3 ICDO = OMIM = 307800 MedlinePlus = eMedicineSubj = ped eMedicineTopic = 1128 MeshName = MeshNumber = MeshID = D007015 X linked… … Wikipedia
vitamin D–resistant rickets — 1. X linked hypophosphatemia. 2. any of a group of disorders characterized by rickets but not responding to high doses of vitamin D; most are forms of familial hypophosphatemic rickets … Medical dictionary
SLHR — sex linked hypophosphatemic rickets … Medical dictionary
SLHR — • sex linked hypophosphatemic rickets … Dictionary of medical acronyms & abbreviations
XLH — Infobox Disease Name = PAGENAME Caption = DiseasesDB = 6513 ICD10 = ICD9 = ICDO = OMIM = 307800 MedlinePlus = eMedicineSubj = eMedicineTopic = MeshID = D053098X linked Hypophosphatemia (XLH) is a genetic disease characterized by mutation in the… … Wikipedia
