Danubian Endemic Familial Nephropathy |
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Nephropathy |
OMIM:124100 |
Pentosuria |
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Abnormality of urine homeostasis |
OMIM:260800 |
Hyperuricemic Nephropathy, Familial Juvenile, 3 |
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Renal insufficiency, Nephropathy |
OMIM:614227 |
Lipoprotein Glomerulopathy |
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Glomerulopathy, Proteinuria, Renal insufficiency, Mesangial hypercellularity |
OMIM:611771 |
Nephrotic Syndrome, Type 10 |
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Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minimal change glomerulon... |
OMIM:615861 |
Renal Dysplasia, Cystic, Susceptibility To |
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Cystic renal dysplasia, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal ins... |
OMIM:601331 |
Urofacial Syndrome 2 |
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Hydronephrosis, Urinary urgency, Recurrent urinary tract infections, Vesicoureteral reflux, Enure... |
OMIM:615112 |
Nephrotic Syndrome, Type 24 |
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Renal cortical hyperechogenicity, Focal segmental glomerulosclerosis, Podocyte foot process effac... |
OMIM:619263 |
Nephrotic Syndrome, Type 16 |
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Hematuria, Proteinuria, Nephrotic syndrome |
OMIM:617783 |
Nephrotic Syndrome, Type 20 |
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Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:301028 |
Focal Segmental Glomerulosclerosis 8 |
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Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:616032 |
Glomerulopathy With Fibronectin Deposits 1 |
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Nephrotic syndrome, Stage 5 chronic kidney disease, Microscopic hematuria, Proteinuria, Nephropat... |
OMIM:137950 |
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
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Glomerulonephritis, Renal insufficiency, Nephrotic syndrome, Glomerular deposits |
ORPHA:69063 |
Nephronophthisis 20 |
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Renal insufficiency, Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease |
OMIM:617271 |
Nephrotic Syndrome, Type 13 |
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Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:616893 |
C3 Glomerulopathy 3 |
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Hematuria, Renal insufficiency, Stage 5 chronic kidney disease, Glomerulonephritis |
OMIM:614809 |
Focal Segmental Glomerulosclerosis 7 |
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Renal hypoplasia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:616002 |
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease |
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Chronic kidney disease, Abnormal tubulointerstitial morphology, Nephropathy |
OMIM:602114 |
Nephrotic Syndrome, Type 18 |
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Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Stage 5 ch... |
OMIM:618177 |
Nephrotic Syndrome, Type 19 |
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Steroid-resistant nephrotic syndrome, Chronic kidney disease, Focal segmental glomerulosclerosis,... |
OMIM:618178 |
Glomerulopathy With Fibronectin Deposits 2 |
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Nephrotic syndrome, Renal cell carcinoma, Stage 5 chronic kidney disease, Microscopic hematuria, ... |
OMIM:601894 |
Focal Segmental Glomerulosclerosis 9 |
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Focal segmental glomerulosclerosis, Nephrotic syndrome |
OMIM:616220 |
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, Nephrotic syndrome, Stage 5 chronic kidney disease, Chronic k... |
OMIM:603965 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
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Abnormality of exocrine pancreas physiology |
OMIM:609812 |
Adenine Phosphoribosyltransferase Deficiency |
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Renal insufficiency, Nephrolithiasis |
OMIM:614723 |
Nephrotic Syndrome, Type 7 |
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Nephrotic syndrome, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Acute kidney injur... |
OMIM:615008 |
Cystinuria |
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Ornithinuria, Nephrolithiasis, Cystinuria, Recurrent urinary tract infections, Argininuria, Hyper... |
OMIM:220100 |
Nephrotic Syndrome, Type 17 |
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Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s... |
OMIM:618176 |
Hinman Syndrome |
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Hydronephrosis, Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Bowel incont... |
ORPHA:84085 |
Nephrotic Syndrome, Type 23 |
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Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Podocyte foot process effa... |
OMIM:619201 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
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Renal tubular atrophy, Nephrocalcinosis, Proximal tubulopathy, Tubulointerstitial fibrosis, Glome... |
OMIM:310468 |
Hanac Syndrome |
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Hematuria, Renal insufficiency, Multiple renal cysts |
ORPHA:73229 |
Nephrotic Syndrome, Type 21 |
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Podocyte foot process effacement, Diffuse mesangial sclerosis, Steroid-resistant nephrotic syndro... |
OMIM:618594 |
Renal Failure, Progressive, With Hypertension |
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Nephritis, Stage 5 chronic kidney disease, Microscopic hematuria, Proteinuria, Renal insufficiency |
OMIM:161900 |
Nephrotic Syndrome, Type 4 |
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Focal segmental glomerulosclerosis, Nephroblastoma, Nephrotic syndrome, Diffuse mesangial scleros... |
OMIM:256370 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
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Pancreatic islet-cell hyperplasia |
OMIM:601820 |
Nephrotic Syndrome, Type 15 |
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Stage 5 chronic kidney disease, Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome |
OMIM:617609 |
Nephronophthisis 12 |
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Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:613820 |
Focal Segmental Glomerulosclerosis 6 |
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Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Hematuria, Chronic... |
OMIM:614131 |
Nephrotic Syndrome, Type 12 |
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Focal segmental glomerulosclerosis, Hematuria, Stage 5 chronic kidney disease, Steroid-resistant ... |
OMIM:616892 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
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Hematuria, Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency |
OMIM:607832 |
Congenital Megacalycosis |
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Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol... |
ORPHA:93109 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
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Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrocalcinosis, Proximal tubulopathy... |
OMIM:308990 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
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Cystic renal dysplasia, Renal hypoplasia, Hydronephrosis, Renal sarcoma, Nephrotic syndrome, Rena... |
OMIM:143400 |
Nephrotic Syndrome, Type 9 |
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Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:615573 |
Glomerulocystic kidney disease with hyperuricemia and isosthenuria |
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Renal insufficiency, Multiple glomerular cysts, Abnormal renal tubule morphology |
OMIM:609886 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
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Renal tubular atrophy, Nephritis, Renal insufficiency, Nephropathy |
OMIM:162000 |
Familial Renal Glucosuria |
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Recurrent urinary tract infections, Renal tubular dysfunction, Glycosuria, Nephropathy |
ORPHA:69076 |
Medullary Sponge Kidney |
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Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria |
ORPHA:1309 |
Primary Hyperoxaluria Type 3 |
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Calcium oxalate nephrolithiasis, Abnormality of urine homeostasis, Nephrocalcinosis, Hematuria, H... |
ORPHA:93600 |
Adenine Phosphoribosyltransferase Deficiency |
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Macroscopic hematuria, Urinary hesitancy, Urinary retention, Dysuria, Nephrolithiasis, Stage 5 ch... |
ORPHA:976 |
Hereditary Renal Hypouricemia |
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Uric acid urolithiasis independent of gout, Vomiting, Nausea, Abnormal renal physiology, Hematuri... |
ORPHA:94088 |
Hypercalciuria, Absorptive, 2 |
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Hypercalciuria, Calcium oxalate nephrolithiasis |
OMIM:143870 |
Hyperoxaluria, Primary, Type Ii |
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Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hyperoxaluria, Hematuria, Aminoaciduria, Renal... |
OMIM:260000 |
Nephrotic Syndrome, Type 3 |
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Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse m... |
OMIM:610725 |
Nephrotic Syndrome, Type 22 |
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Nephrotic syndrome, Podocyte foot process effacement, Glomerular sclerosis, Stage 5 chronic kidne... |
OMIM:619155 |
Primary Hyperoxaluria Type 2 |
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Ureteral obstruction, Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Recurrent urinary tract i... |
ORPHA:93599 |
Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
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Hyperuricosuria, Renal insufficiency, Acute kidney injury, Uric acid nephrolithiasis, Crystalluri... |
ORPHA:411536 |
Congenital Anomalies Of Kidney And Urinary Tract 1 |
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Ureteropelvic junction obstruction, Stage 5 chronic kidney disease, Vesicoureteral reflux |
OMIM:610805 |
Renal Hypoplasia |
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Urethral valve, Hydronephrosis, Abnormality of the ureter, Pelvic kidney, Glomerulomegaly, Abnorm... |
ORPHA:93101 |
Ochoa Syndrome |
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Hydronephrosis, Urethral obstruction, Recurrent urinary tract infections, Urinary incontinence, V... |
ORPHA:2704 |
Xanthinuria, Type Ii |
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Renal insufficiency, Nephrolithiasis |
OMIM:603592 |
Leiomyomatosis, Diffuse, With Alport Syndrome |
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Glomerular basement membrane lamellation, Dysphagia, Vomiting, Abnormal renal physiology, Hematur... |
OMIM:308940 |
Nephrolithiasis, Calcium Oxalate |
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Hyperoxaluria, Acute kidney injury, Ureteropelvic junction obstruction, Calcium oxalate nephrolit... |
OMIM:167030 |
Nephronophthisis 3 |
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Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticomedullary cyst... |
OMIM:604387 |
Cryoglobulinemia, Familial Mixed |
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Chronic kidney disease, Abnormal renal physiology, Hematuria, Proteinuria |
OMIM:123550 |
Renal Dysplasia |
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Abnormal renal calyx morphology, Chronic kidney disease, Abnormal nephron morphology, Vesicovagin... |
ORPHA:93108 |
Cystinuria |
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Hematuria, Renal insufficiency, Nephrolithiasis |
ORPHA:214 |
Pancreatitis, Hereditary |
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Exocrine pancreatic insufficiency, Pancreatic calcification, Pancreatic pseudocyst, Pancreatitis |
OMIM:167800 |
Multiple Endocrine Neoplasia Type 4 |
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Increased circulating cortisol level, Insulinoma, Abnormality of pancreas physiology, Extrahepati... |
ORPHA:276152 |