Pentosuria |
|
Abnormality of urine homeostasis |
OMIM:260800 |
Uridine-Cytidineuria |
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Elevated urinary uridine level, Elevated urinary cytidine |
OMIM:618477 |
Sedoheptulokinase Deficiency |
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Increased urinary sedoheptulose |
OMIM:617213 |
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis |
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Hypocitraturia, Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis |
OMIM:620374 |
Hyperoxaluria, Primary, Type Iii |
|
Calcium oxalate nephrolithiasis, Hyperoxaluria |
OMIM:613616 |
Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
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Acute kidney injury, Stage 4 chronic kidney disease, Renal insufficiency, Hyperuricosuria, Uric a... |
ORPHA:411536 |
Primary Hyperoxaluria Type 3 |
|
Nephrocalcinosis, Abnormal renal physiology, Hyperoxaluria, Hematuria, Abnormality of urine homeo... |
ORPHA:93600 |
Nephrolithiasis, Calcium Oxalate, 1 |
|
Calcium oxalate nephrolithiasis, Acute kidney injury, Hyperoxaluria, Ureteropelvic junction obstr... |
OMIM:167030 |
Hyperuricemia, Hprt-Related |
|
Hyperuricosuria, Renal insufficiency, Nephrolithiasis |
OMIM:300323 |
Hyperoxaluria, Primary, Type Ii |
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Nephrocalcinosis, Hyperoxaluria, Renal insufficiency, Hematuria, Calcium oxalate nephrolithiasis |
OMIM:260000 |
Primary Hyperoxaluria Type 2 |
|
Nephrocalcinosis, Recurrent urinary tract infections, Ureteral obstruction, Hyperoxaluria, Renal ... |
ORPHA:93599 |
Hypouricemia, Renal, 1 |
|
Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Urolithiasis, Proteinuria, Hyper... |
OMIM:220150 |
Hereditary Renal Hypouricemia |
|
Chronic kidney disease, Acute kidney injury, Decreased glomerular filtration rate, Uric acid urol... |
ORPHA:94088 |
Nephrotic Syndrome, Type 16 |
|
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria |
OMIM:617783 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Nephropathy, Acute kidney injury, Renal insufficiency, Hyperuricosuria, Macroscopic hematuria, Ur... |
ORPHA:79233 |
Proteinuria, Chronic Benign |
|
Proteinuria, Albuminuria, Renal insufficiency |
OMIM:618884 |
Primary Hyperoxaluria Type 1 |
|
Nephrocalcinosis, Enuresis, Recurrent urinary tract infections, Decreased glomerular filtration r... |
ORPHA:93598 |
Glucoglycinuria |
|
Hyperglycinuria, Glycosuria |
OMIM:138070 |
Primary Fanconi Renotubular Syndrome |
|
Renal phosphate wasting, Chronic kidney disease, Hypouricemia, Decreased circulating carnitine co... |
ORPHA:3337 |
Dent Disease |
|
Renal phosphate wasting, Chronic kidney disease, Focal segmental glomerulosclerosis, Aminoaciduri... |
ORPHA:1652 |
Severe Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Acute kidney injury, Renal insufficiency, Hyperuricosuria, Uric acid nephrolithiasis, Crystalluria |
ORPHA:411543 |
Hypercalciuria, Absorptive, 2 |
|
Calcium oxalate nephrolithiasis, Hypercalciuria |
OMIM:143870 |
Medullary Sponge Kidney |
|
Hematuria, Distal renal tubular acidosis, Hypercalciuria, Nephrolithiasis |
ORPHA:1309 |
Hypomagnesemia 3, Renal |
|
Chronic kidney disease, Hematuria, Macroscopic hematuria, Sterile pyuria, Renal magnesium wasting... |
OMIM:248250 |
Proximal Renal Tubular Acidosis |
|
Aminoaciduria, Nephrocalcinosis, Glycosuria, Hypernatriuria, Low-molecular-weight proteinuria, Bi... |
ORPHA:47159 |
Primary Hyperoxaluria |
|
Chronic kidney disease, Aciduria, Nephrocalcinosis, Elevated urine glycolate, Stage 5 chronic kid... |
ORPHA:416 |
Paroxysmal Nocturnal Hemoglobinuria 1 |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:300818 |
Fructose Intolerance, Hereditary |
|
Proximal tubulopathy, Transient aminoaciduria, Glycosuria, Hyperbilirubinemia, Hyperphosphaturia,... |
OMIM:229600 |
Hyperoxaluria, Primary, Type I |
|
Nephrocalcinosis, Hyperoxaluria, Renal insufficiency, Hematuria, Elevated urinary glycolic acid l... |
OMIM:259900 |
Lesch-Nyhan Syndrome |
|
Hyperuricosuria, Nephrocalcinosis, Nephrolithiasis |
OMIM:300322 |
Peroxisome Biogenesis Disorder 1B |
|
Renal cyst, Hyperoxaluria |
OMIM:601539 |
Isolated Anencephaly |
|
Thymus hyperplasia |
ORPHA:563609 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Urolithiasis, Renal insufficiency, Hyperuricosuria, Uric acid nephrolithiasis, Hypospadias |
OMIM:300661 |
Lowe Oculocerebrorenal Syndrome |
|
Aminoaciduria, Elevated amniotic fluid alpha-fetoprotein, Low-molecular-weight proteinuria, Stage... |
OMIM:309000 |
Proteus-Like Syndrome |
|
Splenomegaly, Thymus hyperplasia, Abnormality of the parathyroid gland, Polycystic ovaries |
ORPHA:2969 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Thymus hyperplasia |
OMIM:619036 |
Proteus Syndrome |
|
Thymus hyperplasia, Splenomegaly, Enlarged polycystic ovaries, Testicular neoplasm, Macroorchidis... |
ORPHA:744 |