| HP:0000083 | Renal failure | |
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| HP:0000092 | Tubular atrophy | |
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| HP:0000096 | Glomerulosclerosis | |
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| HP:0000097 | Focal segmental glomerulosclerosis | |
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| HP:0000114 | Proximal renal tubule defect | |
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| HP:0000117 | Decreased renal tubular phosphate reabsorption | |
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| HP:0000121 | Nephrocalcinosis | |
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| HP:0000787 | Kidney stones | |
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| HP:0001419 | X-linked recessive inheritance | "A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele." [HPO:curators] |
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| HP:0002148 | Hypophosphatemia | "A lower than normal level of blood phosphate." [HPO:curators] |
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| HP:0002150 | Hypercalciuria | |
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| HP:0002653 | Bone pain | |
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| HP:0002663 | Late ossifying epiphyses | |
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| HP:0002748 | Rickets | |
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| HP:0002749 | Osteomalacia | "Osteomalacia is a general term for bone weakness owing to a defect in mineralization of the protein framework known as osteoid. This defective mineralization is mainly caused by lack in vitamin D. Osteomalacia in children is known as rickets." [HPO:curators] |
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| HP:0002752 | Sparse bone trabeculae | |
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| HP:0002753 | Thin bony cortex | "Abnormal thinning of the cortical region of bones." [HPO:curators] |
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| HP:0002757 | Recurrent fractures | "The repeated occurence of bone fractures (implying an abnormally increased tendency for fracture)." [HPO:curators] |
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| HP:0002907 | Microscopic hematuria | |
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| HP:0002979 | Bowing of the legs | |
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| HP:0002980 | Femoral bowing | "Bowing (abnormal curvature) of the femur." [HPO:curators] |
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| HP:0002982 | Tibial bowing | "A developmental defect with posteromedial tibial angulation." [HPO:curators] |
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| HP:0003013 | Bulging epiphyses | |
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| HP:0003020 | Enlargement of the wrists | |
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| HP:0003025 | Irregular metaphyses | |
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| HP:0003029 | Enlargement of the ankles | |
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| HP:0003076 | Glycosuria | "The excretion of abnormal amounts of glucose in the urine, generally resulting in osmotic diuresis." [HPO:curators] |
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| HP:0003109 | Hyperphosphaturia | "An increased excretion of phosphates in the urine." [HPO:curators] |
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| HP:0003126 | Low-molecular-weight proteinuria | |
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| HP:0003152 | Increased serum 1,25-dihydroxyvitamin D3 | |
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| HP:0003355 | Abnormal urinary amino-acid findings | |
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| HP:0003677 | Slow progression | |
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| HP:0003812 | Phenotypic variability | |
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| HP:0004322 | Decreased body height | "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators] |
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| HP:0004912 | hypophosphatemic rickets | |
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| HP:0005576 | Tubulointerstitial fibrosis | |
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| HP:0010502 | Fibular bowing | "A developmental defect with posteromedial fibular angulation." [HPO:curators] |
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| HP:0012622 | Chronic kidney disease | "Functional anomaly of the kidney persisting for at least three months." [Eurenomics:ewuehl] |
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