Disease #02241 (XLHR (rickets, hypophosphatemic, X-linked dominant (XLHR)), OMIM:307800)

Official abbreviation XLHR
Name rickets, hypophosphatemic, X-linked dominant (XLHR)
OMIM ID 307800
Human Phenotype Ontology Project (HPO) HPO
Inheritance X-linked dominant
Individuals reported having this disease 939
Phenotype entries for this disease 903
Associated with 1 gene PHEX
Associated tissues -
Disease features -
Remarks -


Individuals

939 entries on 10 pages. Showing entries 1 - 100.
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00174830 Pat? PubMed: Quinlan 2012 - M ? United Kingdom (Great Britain) - - 0 - - XLHR - PHEX PHEX 1 1 Yves Sabbagh
00174831 Pat? PubMed: Quinlan 2012 - M ? United Kingdom (Great Britain) - - 0 - - XLHR - PHEX PHEX 1 1 Yves Sabbagh
00174832 Pat? PubMed: Quinlan 2012 - M ? United Kingdom (Great Britain) - - 0 - - XLHR - PHEX PHEX 1 1 Yves Sabbagh
00174833 Pat? PubMed: Quinlan 2012 - M ? United Kingdom (Great Britain) - - 0 - - XLHR - PHEX PHEX 1 1 Yves Sabbagh
00174834 Pat? PubMed: Quinlan 2012 - M ? United Kingdom (Great Britain) - - 0 - - XLHR - PHEX PHEX 1 1 Yves Sabbagh
00174835 Pat? PubMed: Quinlan 2012 - M ? United Kingdom (Great Britain) - - 0 - - XLHR - PHEX PHEX 1 1 Yves Sabbagh
00174836 Pat? PubMed: Quinlan 2012 - F ? United Kingdom (Great Britain) - - 0 - - XLHR - PHEX PHEX 1 1 Yves Sabbagh
00174837 Pat? PubMed: Quinlan 2012 - F ? United Kingdom (Great Britain) - - 0 - - XLHR - PHEX PHEX 1 1 Yves Sabbagh
00174838 Pat? PubMed: Quinlan 2012 - F ? United Kingdom (Great Britain) - - 0 - - XLHR - PHEX PHEX 1 1 Yves Sabbagh
00174839 Pat? PubMed: Quinlan 2012 - F ? United Kingdom (Great Britain) - - 0 - - XLHR - PHEX PHEX 1 1 Yves Sabbagh
00174840 Pat? PubMed: Quinlan 2012 - M ? United Kingdom (Great Britain) - - 0 - - XLHR - PHEX PHEX 1 1 Yves Sabbagh
00174841 Pat? PubMed: Quinlan 2012 - M ? United Kingdom (Great Britain) - - 0 - - XLHR - PHEX PHEX 1 1 Yves Sabbagh
00174842 Pat? PubMed: Quinlan 2012 - M ? United Kingdom (Great Britain) - - 0 - - XLHR - PHEX PHEX 1 1 Yves Sabbagh
00174843 Pat? PubMed: Quinlan 2012 - M ? United Kingdom (Great Britain) - - 0 - - XLHR - PHEX PHEX 1 1 Yves Sabbagh
00174844 Pat? PubMed: Quinlan 2012 - M ? United Kingdom (Great Britain) - - 0 - - XLHR - PHEX PHEX 1 1 Yves Sabbagh
00174845 Pat? PubMed: Quinlan 2012 - F ? United Kingdom (Great Britain) - - 0 - - XLHR - PHEX PHEX 1 1 Yves Sabbagh
00174846 Pat? PubMed: Quinlan 2012 - F ? United Kingdom (Great Britain) - - 0 - - XLHR - PHEX PHEX 1 1 Yves Sabbagh
00174847 Pat? PubMed: Quinlan 2012 - F ? United Kingdom (Great Britain) - - 0 - - XLHR - PHEX PHEX 1 1 Yves Sabbagh
00174848 Pat? PubMed: Quinlan 2012 - F ? United Kingdom (Great Britain) - - 0 - - XLHR - PHEX PHEX 1 1 Yves Sabbagh
00174849 Pat? PubMed: Quinlan 2012 - F ? United Kingdom (Great Britain) - - 0 - - XLHR - PHEX PHEX 1 1 Yves Sabbagh
00174850 Pat? PubMed: Quinlan 2012 - F ? United Kingdom (Great Britain) - - 0 - - XLHR - PHEX PHEX 1 1 Yves Sabbagh
00174851 Pat? PubMed: Quinlan 2012 - F ? United Kingdom (Great Britain) - - 0 - - XLHR - PHEX PHEX 1 1 Yves Sabbagh
00174852 Pat? PubMed: Quinlan 2012 - F ? United Kingdom (Great Britain) - - 0 - - XLHR - PHEX PHEX 1 1 Yves Sabbagh
00225631 - PubMed: Li 2019 4-generation family, 9 affected (4F, 5M), heterozygous affected mother and healthy father M no China yellow race 02y06m 0 yes yes XLHR see paper; ..., PHEX, PHEX-AS1 PHEX 1 9 Wei Li
00392047 - PubMed: Chesher 2018 - - - United Kingdom (Great Britain) - - 0 - - XLHR see paper; ... PHEX PHEX 1 1 Johan den Dunnen
00392048 - PubMed: Chesher 2018 - - - United Kingdom (Great Britain) - - 0 - - XLHR see paper; ... PHEX PHEX 1 1 Johan den Dunnen
00392049 - PubMed: Chesher 2018 - - - United Kingdom (Great Britain) - - 0 - - XLHR see paper; ... PHEX PHEX 1 1 Johan den Dunnen
00392050 - PubMed: Chesher 2018 - - - United Kingdom (Great Britain) - - 0 - - XLHR see paper; ... PHEX PHEX 1 1 Johan den Dunnen
00392051 - PubMed: Chesher 2018 - - - United Kingdom (Great Britain) - - 0 - - XLHR see paper; ... PHEX PHEX 1 1 Johan den Dunnen
00392052 - PubMed: Chesher 2018 - - - United Kingdom (Great Britain) - - 0 - - XLHR see paper; ... PHEX PHEX 1 1 Johan den Dunnen
00392053 - PubMed: Chesher 2018 - - - United Kingdom (Great Britain) - - 0 - - XLHR see paper; ... PHEX PHEX 1 1 Johan den Dunnen
00392054 - PubMed: Chesher 2018 - - - United Kingdom (Great Britain) - - 0 - - XLHR see paper; ... PHEX PHEX 1 1 Johan den Dunnen
00392055 - PubMed: Chesher 2018 - - - United Kingdom (Great Britain) - - 0 - - XLHR see paper; ... PHEX PHEX 1 1 Johan den Dunnen
00392056 - PubMed: Chesher 2018 - - - United Kingdom (Great Britain) - - 0 - - XLHR see paper; ... PHEX PHEX 1 1 Johan den Dunnen
00392057 - PubMed: Chesher 2018 - - - United Kingdom (Great Britain) - - 0 - - XLHR see paper; ... PHEX PHEX 1 1 Johan den Dunnen
00392058 - PubMed: Chesher 2018 - - - United Kingdom (Great Britain) - - 0 - - XLHR see paper; ... PHEX PHEX 1 1 Johan den Dunnen
00392059 - PubMed: Chesher 2018 - - - United Kingdom (Great Britain) - - 0 - - XLHR see paper; ... PHEX PHEX 1 1 Johan den Dunnen
00392060 - PubMed: Chesher 2018 - - - United Kingdom (Great Britain) - - 0 - - XLHR see paper; ... PHEX PHEX 1 1 Johan den Dunnen
00392061 - PubMed: Chesher 2018 - - - United Kingdom (Great Britain) - - 0 - - XLHR see paper; ... PHEX PHEX 1 1 Johan den Dunnen
00392062 - PubMed: Chesher 2018 - - - United Kingdom (Great Britain) - - 0 - - XLHR see paper; ... PHEX PHEX 1 1 Johan den Dunnen
00392063 - PubMed: Chesher 2018 - - - United Kingdom (Great Britain) - - 0 - - XLHR see paper; ... PHEX PHEX 1 1 Johan den Dunnen
00392064 - PubMed: Chesher 2018 - - - United Kingdom (Great Britain) - - 0 - - XLHR see paper; ... PHEX PHEX 1 1 Johan den Dunnen
00392065 - PubMed: Chesher 2018 - - - United Kingdom (Great Britain) - - 0 - - XLHR see paper; ... PHEX PHEX 1 1 Johan den Dunnen
00392066 - PubMed: Chesher 2018 - - - United Kingdom (Great Britain) - - 0 - - XLHR see paper; ... PHEX PHEX 1 1 Johan den Dunnen
00392067 - PubMed: Chesher 2018 - - - United Kingdom (Great Britain) - - 0 - - XLHR see paper; ... PHEX PHEX 1 1 Johan den Dunnen
00392068 - PubMed: Chesher 2018 - - - United Kingdom (Great Britain) - - 0 - - XLHR see paper; ... PHEX PHEX 1 1 Johan den Dunnen
00392069 - PubMed: Chesher 2018 - - - United Kingdom (Great Britain) - - 0 - - XLHR see paper; ... PHEX PHEX 1 1 Johan den Dunnen
00392070 - PubMed: Chesher 2018 - - - United Kingdom (Great Britain) - - 0 - - XLHR see paper; ... PHEX PHEX 1 1 Johan den Dunnen
00392071 - PubMed: Chesher 2018 - - - United Kingdom (Great Britain) - - 0 - - XLHR see paper; ... PHEX PHEX 1 1 Johan den Dunnen
00392072 - PubMed: Chesher 2018 - - - United Kingdom (Great Britain) - - 0 - - XLHR see paper; ... PHEX PHEX 1 1 Johan den Dunnen
00392073 - PubMed: Chesher 2018 - - - United Kingdom (Great Britain) - - 0 - - XLHR see paper; ... PHEX PHEX 1 1 Johan den Dunnen
00392074 - PubMed: Chesher 2018 - - - United Kingdom (Great Britain) - - 0 - - XLHR see paper; ... PHEX PHEX 1 1 Johan den Dunnen
00392075 - PubMed: Chesher 2018 - - - United Kingdom (Great Britain) - - 0 - - XLHR see paper; ... PHEX PHEX 1 1 Johan den Dunnen
00392076 - PubMed: Chesher 2018 - - - United Kingdom (Great Britain) - - 0 - - XLHR see paper; ... PHEX PHEX 1 1 Johan den Dunnen
00392077 - PubMed: Chesher 2018 - - - United Kingdom (Great Britain) - - 0 - - XLHR see paper; ... PHEX PHEX 1 1 Johan den Dunnen
00392078 - PubMed: Chesher 2018 - - - United Kingdom (Great Britain) - - 0 - - XLHR see paper; ... PHEX PHEX 1 1 Johan den Dunnen
00392079 - PubMed: Chesher 2018 - - - United Kingdom (Great Britain) - - 0 - - XLHR see paper; ... PHEX PHEX 1 1 Johan den Dunnen
00392080 - PubMed: Chesher 2018 - - - United Kingdom (Great Britain) - - 0 - - XLHR see paper; ... PHEX PHEX 1 1 Johan den Dunnen
00392081 - PubMed: Chesher 2018 - - - United Kingdom (Great Britain) - - 0 - - XLHR see paper; ... PHEX PHEX 1 1 Johan den Dunnen
00392082 - PubMed: Chesher 2018 - - - United Kingdom (Great Britain) - - 0 - - XLHR see paper; ... PHEX PHEX 1 1 Johan den Dunnen
00392083 Pat1 PubMed: Morey 2011 - F - Spain - - 0 - - XLHR see paper; ..., mild bone phenotype, phosphate serum level 2.9 mg/dl, tubular reabsorption of phosphate 0., 25 hydroxy vitamin D 28 ng/mL, 1,25 dihydroxi vitamin D 87 pg/mL, alkaline phosphatase 1531 PHEX PHEX 1 1 Johan den Dunnen
00392084 Pat2 PubMed: Morey 2011 - F - Spain - - 0 - - XLHR see paper; ..., severe bone phenotype, height (SD-2.71), phosphate serum level 2.3 mg/dl, tubular reabsorption of phosphate 0.60, parathyroid hormone 48 pg/mL, alkaline phosphatase 558, nephrocalcinosis after treatment, hyperparathyroidism after treatment PHEX PHEX 1 1 Johan den Dunnen
00392085 Pat3 PubMed: Morey 2011 - M - Spain - - 0 - - XLHR see paper; ..., severe bone phenotype, height (SD-3.38), phosphate serum level 2.3 mg/dl, tubular reabsorption of phosphate 0.564, 1,25 dihydroxi vitamin D 13.2 pg/ml, parathyroid hormone 21 pg/mL, alkaline phosphatase 766, nephrocalcinosis after treatment, no hyperparathyroidism PHEX PHEX 1 1 Johan den Dunnen
00392086 Pat4 PubMed: Morey 2011 - M - Spain - - 0 - - XLHR see paper; ..., severe bone phenotype, height (SD-2.34), phosphate serum level 2.8 mg/dl, tubular reabsorption of phosphate 0.784, 25 hydroxy vitamin D 29.7 ng/mL, 1,25 dihydroxi vitamin D 73 pg/ml, parathyroid hormone 28 pg/mL, alkaline phosphatase 378, nephrocalcinosis after treatment, no hyperparathyroidism PHEX PHEX 1 1 Johan den Dunnen
00392087 Pat5 PubMed: Morey 2011 - F - Spain - - 0 - - XLHR see paper; ..., phosphate serum level 2.7 mg/dl, tubular reabsorption of phosphate 0.253, 25 hydroxy vitamin D 12 ng/mL, nephrocalcinosis PHEX PHEX 1 1 Johan den Dunnen
00392088 Pat6 PubMed: Morey 2011 - F - Spain - - 0 - - XLHR see paper; ..., moderate bone phenotype, height (SD-4.06), phosphate serum level 2.1 mg/dl, nephrocalcinosis after treatment, no hyperparathyroidism PHEX PHEX 1 1 Johan den Dunnen
00392089 Pat7 PubMed: Morey 2011 - M - Spain - - 0 - - XLHR see paper; ..., moderate bone phenotype, height (SD-3.2), phosphate serum level 2.9 mg/dl, tubular reabsorption of phosphate 0.76, 25 hydroxy vitamin D 175.2 ng/mL, pg/ml, parathyroid hormone 79 pg/mL, alkaline phosphatase 1786, nephrocalcinosis, no hyperparathyroidism PHEX PHEX 1 1 Johan den Dunnen
00392090 Pat8 PubMed: Morey 2011 - M - Spain - - 0 - - XLHR see paper; ..., moderate bone phenotype, nephrocalcinosis after treatment, no hyperparathyroidism PHEX PHEX 1 1 Johan den Dunnen
00392091 Pat9 PubMed: Morey 2011 - M - Spain - - 0 - - XLHR see paper; ..., moderate bone phenotype, height (SD-2.01), phosphate serum level 2.4 mg/dl, tubular reabsorption of phosphate 0.80, 25 hydroxy vitamin D 79 ng/mL, 1,25 dihydroxi vitamin D 38.2 pg/ml, parathyroid hormone 18 pg/mL, alkaline phosphatase 584, nephrocalcinosis, hyperparathyroidism after treatment PHEX PHEX 1 1 Johan den Dunnen
00392092 Pat10 PubMed: Morey 2011 - F - Spain - - 0 - - XLHR see paper; ..., moderate bone phenotype, height (SD-2.05), phosphate serum level 2.7 mg/dl, tubular reabsorption of phosphate 0.91, parathyroid hormone 52 pg/mL, alkaline phosphatase 791, nephrocalcinosis after treatment, no hyperparathyroidism PHEX PHEX 1 1 Johan den Dunnen
00392093 Pat11 PubMed: Morey 2011 - F - Spain - - 0 - - XLHR see paper; ..., mild bone phenotype, height (SD0.88), phosphate serum level 4 mg/dl, tubular reabsorption of phosphate 0.89, 25 hydroxy vitamin D 41 ng/mL, 1,25 dihydroxi vitamin D 75 pg/ml, parathyroid hormone 75 pg/mL, alkaline phosphatase 1755, nephrocalcinosis after treatment, no hyperparathyroidism PHEX PHEX 1 1 Johan den Dunnen
00392094 Pat12 PubMed: Morey 2011 - F - Spain - - 0 - - XLHR see paper; ..., severe bone phenotype, height (SD-3.35), phosphate serum level 2.1 mg/dl, tubular reabsorption of phosphate 0.32, 25 hydroxy vitamin D 27.5 ng/mL, 1,25 dihydroxi vitamin D 16 pg/ml, parathyroid hormone 68 pg/mL, alkaline phosphatase 1646, nephrocalcinosis after treatment, no hyperparathyroidism PHEX PHEX 1 1 Johan den Dunnen
00392095 Pat13 PubMed: Morey 2011 - F - Spain - - 0 - - XLHR see paper; ..., severe bone phenotype, height (SD-2.24), phosphate serum level 2.8 mg/dl, tubular reabsorption of phosphate 0.582, 1,25 dihydroxi vitamin D 21.9 pg/ml, parathyroid hormone 49 pg/mL, alkaline phosphatase 1699, nephrocalcinosis after treatment, hyperparathyroidism after treatment PHEX PHEX 1 1 Johan den Dunnen
00392096 Pat14 PubMed: Morey 2011 - F - Spain - - 0 - - XLHR see paper; ... PHEX PHEX 1 1 Johan den Dunnen
00392097 Pat15 PubMed: Morey 2011 - F - Spain - - 0 - - XLHR see paper; ... PHEX PHEX 1 1 Johan den Dunnen
00392098 Pat16 PubMed: Morey 2011 - F - Spain - - 0 - - XLHR see paper; ..., moderate bone phenotype, height (SD-1.97), phosphate serum level 2.5 mg/dl, tubular reabsorption of phosphate 0.52, 1,25 dihydroxi vitamin D 28 pg/ml, parathyroid hormone 29 pg/mL, alkaline phosphatase 991, nephrocalcinosis after treatment, hyperparathyroidism after treatment PHEX PHEX 1 1 Johan den Dunnen
00392099 Pat17 PubMed: Morey 2011 - F - Spain - - 0 - - XLHR see paper; ..., severe bone phenotype, height (SD-4.86), 25 hydroxy vitamin D 16 ng/mL, 1,25 dihydroxi vitamin D 28 pg/ml, parathyroid hormone 25 pg/mL, alkaline phosphatase 755, nephrocalcinosis after treatment, hyperparathyroidism after treatment PHEX PHEX 1 1 Johan den Dunnen
00392100 Pat18 PubMed: Morey 2011 - F - Spain - - 0 - - XLHR see paper; ..., moderate bone phenotype, height (SD-3.11), phosphate serum level 3.1 mg/dl, tubular reabsorption of phosphate 0.823, 25 hydroxy vitamin D 43 ng/mL, 1,25 dihydroxi vitamin D 60 pg/ml, parathyroid hormone 60 pg/mL, alkaline phosphatase 934, nephrocalcinosis after treatment, no hyperparathyroidism PHEX PHEX 1 1 Johan den Dunnen
00392101 Pat19 PubMed: Morey 2011 - F - Spain - - 0 - - XLHR see paper; ..., severe bone phenotype, height (SD-3.84), tubular reabsorption of phosphate 0.66, 25 hydroxy vitamin D 37.5 ng/mL, parathyroid hormone 42 pg/mL, alkaline phosphatase 534, nephrocalcinosis after treatment, no hyperparathyroidism PHEX PHEX 1 1 Johan den Dunnen
00392102 Pat20 PubMed: Morey 2011 - F - Spain - - 0 - - XLHR see paper; ..., mild bone phenotype, height (SD-2.53), phosphate serum level 2.2 mg/dl, tubular reabsorption of phosphate 0.71, 25 hydroxy vitamin D 30.1 ng/mL, 1,25 dihydroxi vitamin D 129 pg/ml, parathyroid hormone 66.7 pg/mL, alkaline phosphatase 597, nephrocalcinosis after treatment, hyperparathyroidism after treatment PHEX PHEX 1 1 Johan den Dunnen
00392103 Pat21 PubMed: Morey 2011 - F - Spain - - 0 - - XLHR see paper; ..., severe bone phenotype, height (SD-2.97), phosphate serum level 2.5 mg/dl, tubular reabsorption of phosphate 0.78, 25 hydroxy vitamin D 28 ng/mL, 1,25 dihydroxi vitamin D 53 pg/ml, parathyroid hormone 66 pg/mL, alkaline phosphatase 1020, nephrocalcinosis after treatment, no hyperparathyroidism PHEX PHEX 1 1 Johan den Dunnen
00392104 Pat22 PubMed: Morey 2011 - F - Spain - - 0 - - XLHR see paper; ..., severe bone phenotype, height (SD-1.65), phosphate serum level 2.1 mg/dl, tubular reabsorption of phosphate 0.83, parathyroid hormone 23 pg/mL, alkaline phosphatase 448, nephrocalcinosis, no hyperparathyroidism PHEX PHEX 1 1 Johan den Dunnen
00392105 Pat23 PubMed: Morey 2011 - M - Spain - - 0 - - XLHR see paper; ..., moderate bone phenotype, height (SD-5.47), phosphate serum level 2.7 mg/dl, tubular reabsorption of phosphate 0.23, nephrocalcinosis, hyperparathyroidism before treatment PHEX PHEX 1 1 Johan den Dunnen
00392106 Pat24 PubMed: Morey 2011 - M - Spain - - 0 - - XLHR see paper; ..., severe bone phenotype, height (SD-2.26), phosphate serum level 2.0 mg/dl, tubular reabsorption of phosphate 0.59, 1,25 dihydroxi vitamin D 30.1 pg/ml, parathyroid hormone 57 pg/mL, alkaline phosphatase 1010, nephrocalcinosis, hyperparathyroidism after treatment PHEX PHEX 1 1 Johan den Dunnen
00392107 Pat25 PubMed: Morey 2011 - F - Spain - - 0 - - XLHR see paper; ..., severe bone phenotype, height (SD-2), phosphate serum level 2.7 mg/dl, tubular reabsorption of phosphate 0.46, 25 hydroxy vitamin D 45.2 ng/mL, 1,25 dihydroxi vitamin D 53.4 pg/ml, parathyroid hormone 48 pg/mL, alkaline phosphatase 528, nephrocalcinosis after treatment, hyperparathyroidism after treatment PHEX PHEX 1 1 Johan den Dunnen
00392108 Pat26 PubMed: Morey 2011 - F - Spain - - 0 - - XLHR see paper; ..., mild bone phenotype, height (SD0.62), phosphate serum level 2.5 mg/dl, tubular reabsorption of phosphate 0., 25 hydroxy vitamin D 73 ng/mL, 1,25 dihydroxi vitamin D 76 pg/ml, parathyroid hormone 60 pg/mL, alkaline phosphatase 1249, nephrocalcinosis after treatment, no hyperparathyroidism PHEX PHEX 1 1 Johan den Dunnen
00392109 Pat27 PubMed: Morey 2011 - M - Spain - - 0 - - XLHR see paper; ..., moderate bone phenotype, height (SD-3.23), phosphate serum level 2.6 mg/dl, tubular reabsorption of phosphate 0.776, 25 hydroxy vitamin D 30 ng/mL, 1,25 dihydroxi vitamin D 41 pg/ml, parathyroid hormone 43 pg/mL, alkaline phosphatase 1389, nephrocalcinosis after treatment, no hyperparathyroidism PHEX PHEX 1 1 Johan den Dunnen
00392110 Pat28 PubMed: Morey 2011 - F - Spain - - 0 - - XLHR see paper; ..., mild bone phenotype, height (SD-2.56), phosphate serum level 2.8 mg/dl, tubular reabsorption of phosphate 0.33, alkaline phosphatase 220, nephrocalcinosis after treatment, no hyperparathyroidism PHEX PHEX 1 1 Johan den Dunnen
00392111 Pat29 PubMed: Morey 2011 - F - Spain - - 0 - - XLHR see paper; ..., moderate bone phenotype, height (SD-3.1), phosphate serum level 2.4 mg/dl, tubular reabsorption of phosphate 0.66, 25 hydroxy vitamin D 54.2 ng/mL, 1,25 dihydroxi vitamin D 39.8 pg/ml, parathyroid hormone 58 pg/mL, alkaline phosphatase 856, nephrocalcinosis after treatment, no hyperparathyroidism PHEX PHEX 1 1 Johan den Dunnen
00392112 Pat30 PubMed: Morey 2011 - F - Spain - - 0 - - XLHR see paper; ..., moderate bone phenotype, height (SD-1.84), phosphate serum level 2.1 mg/dl, tubular reabsorption of phosphate 0.85, 25 hydroxy vitamin D 18 ng/mL, 1,25 dihydroxi vitamin D 147 pg/ml, parathyroid hormone 78 pg/mL, alkaline phosphatase 1513, nephrocalcinosis after treatment, hyperparathyroidism before treatment PHEX PHEX 1 1 Johan den Dunnen
00392113 Pat31 PubMed: Morey 2011 - F - Spain - - 0 - - XLHR see paper; ... PHEX PHEX 1 1 Johan den Dunnen
00392114 Pat32 PubMed: Morey 2011 - F - Spain - - 0 - - XLHR see paper; ..., severe bone phenotype, height (SD-3.31), phosphate serum level 3.1 mg/dl, tubular reabsorption of phosphate 0.592, 1,25 dihydroxi vitamin D 32 pg/ml, parathyroid hormone 52.3 pg/mL, alkaline phosphatase 1110, nephrocalcinosis after treatment, hyperparathyroidism after treatment PHEX PHEX 1 1 Johan den Dunnen
00392115 Pat33 PubMed: Morey 2011 - M - Spain - - 0 - - XLHR see paper; ..., severe bone phenotype, height (SD0.64), phosphate serum level 3.7 mg/dl, tubular reabsorption of phosphate 0.623, 25 hydroxy vitamin D 6.6 ng/mL, 1,25 dihydroxi vitamin D 13.8 pg/ml, parathyroid hormone 22 pg/mL, alkaline phosphatase 1204, nephrocalcinosis after treatment, no hyperparathyroidism PHEX PHEX 1 1 Johan den Dunnen
00392116 Pat34 PubMed: Morey 2011 - F - Spain - - 0 - - XLHR see paper; ..., mild bone phenotype, height (SD-4.37), phosphate serum level 2.2 mg/dl, nephrocalcinosis after treatment, no hyperparathyroidism PHEX PHEX 1 1 Johan den Dunnen
00392117 Pat35 PubMed: Morey 2011 - F - Spain - - 0 - - XLHR see paper; ..., moderate bone phenotype, height (SD-2.3), phosphate serum level 2.6 mg/dl, tubular reabsorption of phosphate 0.75, 25 hydroxy vitamin D 39 ng/mL, 1,25 dihydroxi vitamin D 14 pg/ml, parathyroid hormone 49 pg/mL, alkaline phosphatase 1109, nephrocalcinosis after treatment, no hyperparathyroidism PHEX PHEX 1 1 Johan den Dunnen
00392118 Pat36 PubMed: Morey 2011 - F - Spain - - 0 - - XLHR see paper; ..., severe bone phenotype, height (SD-1.95), phosphate serum level 3.7 mg/dl, tubular reabsorption of phosphate 0.867, 25 hydroxy vitamin D 31 ng/mL, 1,25 dihydroxi vitamin D 56.3 pg/ml, parathyroid hormone 49 pg/mL, alkaline phosphatase 470, nephrocalcinosis after treatment, no hyperparathyroidism PHEX PHEX 1 1 Johan den Dunnen
00392172 Fam1 PubMed: Beck-Nielsen 2012 - M - Denmark - - 0 - - XLHR see paper; ..., S-FGF23 69 (±22) pg/ml PHEX PHEX 1 1 Johan den Dunnen
00392173 Pat4 PubMed: Beck-Nielsen 2012 - F - Denmark - - 0 - - XLHR see paper; ..., S-FGF23 128 pg/ml PHEX PHEX 1 1 Johan den Dunnen
00392174 Fam5 PubMed: Beck-Nielsen 2012 - M - Denmark - - 0 - - XLHR see paper; ..., S-FGF23 112 (±42) pg/ml PHEX PHEX 1 1 Johan den Dunnen
00392175 Fam8 PubMed: Beck-Nielsen 2012 - F - Denmark - - 0 - - XLHR see paper; ..., S-FGF23 95 (±27) pg/ml PHEX PHEX 1 1 Johan den Dunnen
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