Danubian Endemic Familial Nephropathy |
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Nephropathy |
OMIM:124100 |
Pentosuria |
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Abnormality of urine homeostasis |
OMIM:260800 |
Nephrotic Syndrome, Type 26 |
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Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Steroid-r... |
OMIM:620049 |
Lipoprotein Glomerulopathy |
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Proteinuria, Glomerulopathy, Renal insufficiency, Mesangial hypercellularity |
OMIM:611771 |
Nephrotic Syndrome, Type 10 |
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Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Podo... |
OMIM:615861 |
Renal Dysplasia, Cystic, Susceptibility To |
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Hyperechogenic kidneys, Vesicoureteral reflux, Renal insufficiency, Renal dysplasia, Cystic renal... |
OMIM:601331 |
Polycystic Kidney Disease 7 |
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Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ... |
OMIM:620056 |
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
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Nephrotic syndrome, Renal insufficiency, Glomerulonephritis, Glomerular deposits |
ORPHA:69063 |
Glomerulopathy With Fibronectin Deposits 2 |
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Glomerulomegaly, Glomerular deposits, Glomerular fibronectin deposits, Stage 5 chronic kidney dis... |
OMIM:601894 |
Nephrotic Syndrome, Type 24 |
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Focal segmental glomerulosclerosis, Renal cortical hyperechogenicity, Steroid-resistant nephrotic... |
OMIM:619263 |
Focal Segmental Glomerulosclerosis 8 |
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Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease |
OMIM:616032 |
Glomerulopathy With Fibronectin Deposits 1 |
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Nephropathy, Glomerular fibronectin deposits, Stage 5 chronic kidney disease, Renal insufficiency... |
OMIM:137950 |
Nephrotic Syndrome, Type 13 |
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Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s... |
OMIM:616893 |
Focal Segmental Glomerulosclerosis 7 |
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Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria... |
OMIM:616002 |
Nephrotic Syndrome, Type 16 |
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Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria |
OMIM:617783 |
C3 Glomerulopathy 3 |
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Thickening of glomerular capillary wall, Stage 5 chronic kidney disease, Renal insufficiency, Mes... |
OMIM:614809 |
Nephrotic Syndrome, Type 20 |
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Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... |
OMIM:301028 |
Nephrotic Syndrome, Type 18 |
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Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... |
OMIM:618177 |
Nephrotic Syndrome, Type 19 |
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Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 3 ch... |
OMIM:618178 |
Focal Segmental Glomerulosclerosis 10 |
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Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... |
OMIM:256020 |
Focal Segmental Glomerulosclerosis 2 |
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Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Prote... |
OMIM:603965 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
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Nesidioblastosis, Pancreatic islet-cell hyperplasia |
OMIM:601820 |
Nephronophthisis 20 |
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Nephronophthisis, Stage 5 chronic kidney disease, Vesicoureteral reflux, Renal insufficiency, Ren... |
OMIM:617271 |
Cystinuria |
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Hyperlysinuria, Recurrent urinary tract infections, Renal insufficiency, Nephrolithiasis, Cystinu... |
OMIM:220100 |
Focal Segmental Glomerulosclerosis 9 |
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Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome |
OMIM:616220 |
Hinman Syndrome |
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Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, C... |
ORPHA:84085 |
Nephrotic Syndrome, Type 17 |
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Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:618176 |
Nephrotic Syndrome, Type 23 |
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Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Steroid-resistant nephroti... |
OMIM:619201 |
Hanac Syndrome |
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Hematuria, Multiple renal cysts, Renal insufficiency |
ORPHA:73229 |
Renal Failure, Progressive, With Hypertension |
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Nephritis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Microscopic hematuria |
OMIM:161900 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
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Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,... |
OMIM:310468 |
Nephrotic Syndrome, Type 21 |
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Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome... |
OMIM:618594 |
Nephrotic Syndrome, Type 4 |
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Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Diffuse mesangial sclero... |
OMIM:256370 |
Nephrotic Syndrome, Type 7 |
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Thickened glomerular basement membrane, Acute kidney injury, Stage 5 chronic kidney disease, Podo... |
OMIM:615008 |
Focal Segmental Glomerulosclerosis 6 |
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Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Hematuria, Nephr... |
OMIM:614131 |
Nephronophthisis 12 |
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Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613820 |
Urofacial Syndrome 2 |
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Megacystis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral reflux, Hydro... |
OMIM:615112 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
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Focal segmental glomerulosclerosis, Proteinuria, Hematuria, Renal insufficiency |
OMIM:607832 |
Nephrotic Syndrome, Type 12 |
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Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:616892 |
Congenital Megacalycosis |
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Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... |
ORPHA:93109 |
Nephrotic Syndrome, Type 15 |
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Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Steroid-resistant... |
OMIM:617609 |
Bronchiectasis With Or Without Elevated Sweat Chloride 1 |
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Abnormality of exocrine pancreas physiology |
OMIM:211400 |
Proteinuria, Chronic Benign |
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Proteinuria, Albuminuria, Renal insufficiency |
OMIM:618884 |
Alport Syndrome 3B, Autosomal Recessive |
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Thin glomerular basement membrane, Stage 5 chronic kidney disease, Renal insufficiency, Proteinur... |
OMIM:620536 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
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Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos... |
OMIM:308990 |
Glomerulocystic kidney disease with hyperuricemia and isosthenuria |
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Abnormal renal tubule morphology, Renal insufficiency, Multiple glomerular cysts |
OMIM:609886 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
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Nephropathy, Nephritis, Decreased glomerular filtration rate, Renal insufficiency, Renal tubular ... |
OMIM:162000 |
Hereditary Renal Hypouricemia |
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Chronic kidney disease, Acute kidney injury, Vomiting, Decreased glomerular filtration rate, Uric... |
ORPHA:94088 |
Familial Renal Glucosuria |
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Nephropathy, Glycosuria, Renal tubular dysfunction, Recurrent urinary tract infections |
ORPHA:69076 |
Medullary Sponge Kidney |
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Hematuria, Distal renal tubular acidosis, Hypercalciuria, Nephrolithiasis |
ORPHA:1309 |
Bronchiectasis With Or Without Elevated Sweat Chloride 2 |
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Abnormality of exocrine pancreas physiology |
OMIM:613021 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
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Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Ureteropelvic junction obstruction, Renal ... |
OMIM:143400 |
Primary Hyperoxaluria Type 3 |
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Nephrocalcinosis, Abnormal renal physiology, Hyperoxaluria, Hematuria, Abnormality of urine homeo... |
ORPHA:93600 |
Adenine Phosphoribosyltransferase Deficiency |
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Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract... |
ORPHA:976 |
Nephrotic Syndrome, Type 6 |
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Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... |
OMIM:614196 |
Nephrotic Syndrome, Type 22 |
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Thickened glomerular basement membrane, Stage 5 chronic kidney disease, Podocyte foot process eff... |
OMIM:619155 |
Adenine Phosphoribosyltransferase Deficiency |
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Oliguria, Urolithiasis, Renal insufficiency, 2,8-dihydroxyadenine crystalluria, Nephrolithiasis, ... |
OMIM:614723 |
Primary Hyperoxaluria Type 2 |
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Nephrocalcinosis, Recurrent urinary tract infections, Ureteral obstruction, Hyperoxaluria, Renal ... |
ORPHA:93599 |
Congenital Anomalies Of Kidney And Urinary Tract 1 |
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Unilateral renal agenesis, Renal hypoplasia, Stage 5 chronic kidney disease, Vesicoureteral reflu... |
OMIM:610805 |
Hyperoxaluria, Primary, Type Ii |
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Nephrocalcinosis, Hyperoxaluria, Renal insufficiency, Hematuria, Calcium oxalate nephrolithiasis |
OMIM:260000 |
Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
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Acute kidney injury, Stage 4 chronic kidney disease, Renal insufficiency, Hyperuricosuria, Uric a... |
ORPHA:411536 |
Nephronophthisis 3 |
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Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico... |
OMIM:604387 |
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis |
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Hypocitraturia, Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis |
OMIM:620374 |
Hyperuricemic Nephropathy, Familial Juvenile, 3 |
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Abnormal renal insterstitial morphology, Renal insufficiency, Impaired renal concentrating ability |
OMIM:614227 |
Nephrolithiasis, Calcium Oxalate, 1 |
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Calcium oxalate nephrolithiasis, Acute kidney injury, Hyperoxaluria, Ureteropelvic junction obstr... |
OMIM:167030 |
Pancreatic Agenesis 2 |
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Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Pancreatic aplasia |
OMIM:615935 |
Cryoglobulinemia, Familial Mixed |
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Chronic kidney disease, Proteinuria, Hematuria, Abnormal renal physiology |
OMIM:123550 |
Leiomyomatosis, Diffuse, With Alport Syndrome |
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Nephropathy, Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Vo... |
OMIM:308940 |
Renal Dysplasia |
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Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure... |
ORPHA:93108 |
Cystinuria |
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Hematuria, Renal insufficiency, Nephrolithiasis |
ORPHA:214 |
Pancreatitis, Hereditary |
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Exocrine pancreatic insufficiency, Pancreatic calcification, Pancreatitis, Pancreatic pseudocyst |
OMIM:167800 |
Multiple Endocrine Neoplasia Type 4 |
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Hyperparathyroidism, Increased circulating cortisol level, Insulinoma, Abnormality of pancreas ph... |
ORPHA:276152 |