Polycystic Kidney Disease 5 |
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Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico... |
OMIM:617610 |
Congenital Megacalycosis |
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Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... |
ORPHA:93109 |
Vesicoureteral Reflux 2 |
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Renal hypoplasia, Vesicoureteral reflux |
OMIM:610878 |
Focal Segmental Glomerulosclerosis 7 |
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Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria... |
OMIM:616002 |
Immunodeficiency, Common Variable, 6 |
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Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Glomerulonep... |
OMIM:613496 |
Nephronophthisis 16 |
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Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Polycystic kidney dysplasi... |
OMIM:615382 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
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Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki... |
OMIM:618270 |
Nephronophthisis 3 |
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Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico... |
OMIM:604387 |
Hepatorenocardiac Degenerative Fibrosis |
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Hyperechogenic kidneys, Hepatosplenomegaly, Reduced renal corticomedullary differentiation, Renal... |
OMIM:619902 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
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Hepatomegaly, Splenomegaly, Enlarged kidney |
OMIM:615285 |
Renal Dysplasia |
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Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure... |
ORPHA:93108 |
Nephronophthisis 2 |
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Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Absence of renal cortic... |
OMIM:602088 |
Aa Amyloidosis |
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Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Proteinuria, Abnorma... |
ORPHA:85445 |
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 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
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Enlarged polycystic ovaries, Enlarged kidney |
ORPHA:90301 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
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Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Ureteropelvic junction obstruction, Renal ... |
OMIM:143400 |
Meckel Syndrome, Type 8 |
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Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys |
OMIM:613885 |
Autosomal Dominant Polycystic Kidney Disease |
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Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... |
ORPHA:730 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
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Enlarged kidney, Nephroblastoma |
OMIM:618272 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
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Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn... |
OMIM:613092 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
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Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Splenomegaly, ... |
OMIM:263200 |
Multicystic Dysplastic Kidney |
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Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... |
ORPHA:1851 |
Nephronophthisis 13 |
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Renal hypoplasia, Nephronophthisis, Glomerular subepithelial immune-complex deposits, Stage 5 chr... |
OMIM:614377 |
Diaphanospondylodysostosis |
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Nephroblastomatosis, Horseshoe kidney, Nephrogenic rest, Enlarged kidney, Cystic renal dysplasia |
OMIM:608022 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
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Hepatomegaly, Enlarged kidney, Cystic renal dysplasia |
OMIM:615415 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
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Hydronephrosis, Urethral atresia, Enlarged kidney |
OMIM:314390 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
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Renal insufficiency, Cardiomegaly, Hydronephrosis, Long-chain dicarboxylic aciduria, Hepatomegaly... |
OMIM:608836 |
Mucopolysaccharidosis-Plus Syndrome |
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Focal segmental glomerulosclerosis, Nephritis, Splenomegaly, Proteinuria, Hepatomegaly, Nephrotic... |
OMIM:617303 |
Denys-Drash Syndrome |
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Nephropathy, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephroblastoma, ... |
OMIM:194080 |
Paternal Uniparental Disomy Of Chromosome 1 |
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Proteinuria, Membranoproliferative glomerulonephritis, Enlarged kidney, Macroscopic hematuria |
ORPHA:251004 |
Glycogen Storage Disease Ia |
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Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Nephrolithiasis, Protei... |
OMIM:232200 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
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Stage 5 chronic kidney disease, Renal insufficiency, Splenomegaly, Ureteral atresia, Hepatomegaly... |
OMIM:208540 |
Glycogen Storage Disease Ib |
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Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Splenomegaly, Nephrolit... |
OMIM:232220 |
Tyrosinemia, Type I |
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Nephrocalcinosis, Elevated urinary succinylacetone level, Renal insufficiency, Splenomegaly, Rena... |
OMIM:276700 |
Beckwith-Wiedemann Syndrome |
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Nephrocalcinosis, Pancreatic hyperplasia, Renal cortical cysts, Vesicoureteral reflux, Nephroblas... |
OMIM:130650 |
Igg4-Related Kidney Disease |
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Chronic kidney disease, Acute kidney injury, Urinary bladder inflammation, Urethritis, Ureteral o... |
ORPHA:449395 |
Acrocephalopolydactylous Dysplasia |
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Hepatomegaly, Enlarged kidney, Cystic renal dysplasia |
OMIM:200995 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
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Micropenis, Polycystic kidney dysplasia, Renal dysplasia, Enlarged kidney |
OMIM:613091 |
Kaposiform Lymphangiomatosis |
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Splenomegaly, Hepatosplenomegaly, Multiple renal cysts, Enlarged kidney |
ORPHA:464329 |
Lymphoid Interstitial Pneumonia |
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Hepatomegaly, Enlarged kidney |
ORPHA:79128 |
H Syndrome |
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Micropenis, Hepatosplenomegaly, Enlarged kidney, Abnormality of the kidney |
ORPHA:168569 |
Endocrine-Cerebroosteodysplasia |
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Hypospadias, Enlarged kidney, Microphallus, Hyperechogenic kidneys |
OMIM:612651 |
Hyperparathyroidism, Transient Neonatal |
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Unilateral renal agenesis, Enlarged kidney |
OMIM:618188 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
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Heparan sulfate excretion in urine, Hepatosplenomegaly, Urinary glycosaminoglycan excretion, Heav... |
ORPHA:505248 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
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Enlarged kidney, Nephroblastoma |
ORPHA:276280 |
Alg9-Cdg |
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Hypoplasia of the bladder, Abnormal renal artery morphology, Hydronephrosis, Hepatomegaly, Ureter... |
ORPHA:79328 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
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Nephrocalcinosis, Stage 5 chronic kidney disease, Nephrolithiasis, Proteinuria, Tubulointerstitia... |
ORPHA:79259 |
Mucolipidosis Ii Alpha/Beta |
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Splenomegaly, Cardiomegaly, Mucopolysacchariduria, Hepatomegaly, Enlarged kidney |
OMIM:252500 |
Autosomal Recessive Polycystic Kidney Disease |
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Acute kidney injury, Oliguria, Recurrent urinary tract infections, Hepatosplenomegaly, Reduced re... |
ORPHA:731 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
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Multicystic kidney dysplasia, Bifid ureter, Nephroblastoma, Renal malrotation, Enlarged kidney |
ORPHA:500095 |
Beckwith-Wiedemann Syndrome |
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Nephropathy, Visceromegaly, Vesicoureteral reflux, Splenomegaly, Nephroblastoma, Nephrolithiasis,... |
ORPHA:116 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
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Cardiomegaly, Enlarged kidney |
OMIM:261740 |
Meacham Syndrome |
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Horseshoe kidney, Enlarged kidney |
OMIM:608978 |
Heterotaxy, Visceral, 1, X-Linked |
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Renal agenesis, Horseshoe kidney, Cardiomegaly, Hepatomegaly, Enlarged kidney |
OMIM:306955 |
Helsmoortel-Van Der Aa Syndrome |
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Enuresis nocturna, Enlarged kidney, Recurrent urinary tract infections |
OMIM:615873 |
Ogden Syndrome |
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Cardiomegaly, Global glomerulosclerosis, Polycystic kidney dysplasia, Enlarged kidney |
OMIM:300855 |
Leprechaunism |
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Nephrocalcinosis, Long penis, Hypercalciuria, Enlarged ovaries, Hepatomegaly, Enlarged kidney |
ORPHA:508 |
Cardiac-Urogenital Syndrome |
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Micropenis, Patent urachus, Penoscrotal hypospadias, Enlarged kidney |
OMIM:618280 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
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Duplication of renal pelvis, Splenomegaly, Nephroblastoma, Hydronephrosis, Renal cyst, Hepatomega... |
OMIM:312870 |
Proteus Syndrome |
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Long penis, Splenomegaly, Enlarged polycystic ovaries, Renal cyst, Enlarged kidney |
ORPHA:744 |