Ureter, Cancer Of |
|
Neoplasm of the ureter |
OMIM:191600 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Cystic renal dysplasia, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Vesicourete... |
OMIM:601331 |
Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Edema |
OMIM:613267 |
RCAD (renal cysts and diabetes) |
|
Multiple renal cysts |
DECIPHER:47 |
Nephronophthisis 20 |
|
Renal cyst, Renal insufficiency, Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:617271 |
Polycystic Kidney Disease 5 |
|
Polycystic kidney dysplasia, Hyperechogenic kidneys, Stage 5 chronic kidney disease |
OMIM:617610 |
Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Renal cyst, Vesicoureteral reflux, Ectopic kidney, Hydronephrosis |
OMIM:618270 |
Craniofacial Conodysplasia |
|
Hydrocephalus, Spinal cord compression |
ORPHA:85168 |
Renal Hypodysplasia/Aplasia 3 |
|
Renal agenesis, Multicystic kidney dysplasia, Renal dysplasia, Horseshoe kidney, Hydronephrosis, ... |
OMIM:617805 |
Lipedema |
|
Edema |
OMIM:614103 |
Congenital Megacalycosis |
|
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... |
ORPHA:93109 |
Hanac Syndrome |
|
Renal insufficiency, Hematuria, Multiple renal cysts |
ORPHA:73229 |
Renal Caliceal Diverticuli-Deafness Syndrome |
|
Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Abnormality of th... |
ORPHA:2838 |
Bardet-Biedl Syndrome 10 |
|
Abnormality of the kidney, Renal cyst, Renal insufficiency |
OMIM:615987 |
Angioedema, Hereditary, 6 |
|
Angioedema, Facial edema, Edema of the dorsum of hands |
OMIM:619363 |
Immunodeficiency, Common Variable, 6 |
|
Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Macroscopic hemat... |
OMIM:613496 |
Humero-Radio-Ulnar Synostosis |
|
Abnormality of the upper urinary tract, Abnormality of the ureter |
ORPHA:3266 |
Polycystic Liver Disease 4 With Or Without Kidney Cysts |
|
Renal cyst, Hepatic cysts |
OMIM:617875 |
Polycystic Liver Disease 3 With Or Without Kidney Cysts |
|
Renal cyst, Hepatic cysts |
OMIM:617874 |
Nephronophthisis 16 |
|
Nephronophthisis, Enlarged kidney, Polycystic kidney dysplasia, Renal insufficiency, Stage 5 chro... |
OMIM:615382 |
Bardet-Biedl Syndrome 16 |
|
Renal agenesis, Abnormality of the kidney, Renal dysplasia, Renal cyst, Renal insufficiency |
OMIM:615993 |
Thymic Aplasia With Fetal Death |
|
Renal agenesis, Stillbirth, Ureteral agenesis |
OMIM:274210 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Congenital megaureter, Hydroureter, Hyperechogenic kidneys, Renal dysplasia, Ureteropelvic juncti... |
OMIM:143400 |
Ureter, Bifid Or Double |
|
Ureteral duplication |
OMIM:191550 |
Congenital Primary Megaureter |
|
Nephrolithiasis, Congenital megaureter, Abnormal penis morphology, Abnormality of the upper urina... |
ORPHA:617 |
Hepatorenocardiac Degenerative Fibrosis |
|
Reduced renal corticomedullary differentiation, Hepatosplenomegaly, Hyperechogenic kidneys, Enlar... |
OMIM:619902 |
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies |
|
Renal cyst |
OMIM:138790 |
Nephronophthisis 9 |
|
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613824 |
Vesicoureteral Reflux 3 |
|
Hydroureter, Vesicoureteral reflux, Hydronephrosis |
OMIM:613674 |
Ureterocele |
|
Duplicated collecting system, Ureterocele |
OMIM:191650 |
Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Pulmonary edema, Elevated pulmonary artery pressure, Edema |
OMIM:178400 |
Focal Segmental Glomerulosclerosis 7 |
|
Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal hypoplasia, Proteinuria, Stage 5 ch... |
OMIM:616002 |
Chilblain Lupus 2 |
|
Edema, Vasculitis |
OMIM:614415 |
Nephronophthisis 14 |
|
Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:2091 |
Ring Chromosome 8 Syndrome |
|
Abnormality of the ureter, Hydronephrosis |
ORPHA:1450 |
Thymic-Renal-Anal-Lung Dysplasia |
|
Renal agenesis, Ureteral dysgenesis, Ureteral agenesis |
OMIM:274265 |
Renal Dysplasia |
|
Enlarged kidney, Thickened glomerular basement membrane, Congenital posterior urethral valve, Rec... |
ORPHA:93108 |
Aa Amyloidosis |
|
Chronic kidney disease, Nephrotic syndrome, Hepatomegaly, Abnormality of the kidney, Nephropathy,... |
ORPHA:85445 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n... |
OMIM:602088 |
Vesicoureteral Reflux 2 |
|
Renal hypoplasia, Vesicoureteral reflux |
OMIM:610878 |
Medullary cystic kidney disease 2 |
|
Renal tubular atrophy, Multiple renal cysts, Tubulointerstitial nephritis, Multiple small medulla... |
OMIM:603860 |
Renal Hypoplasia |
|
Chronic kidney disease, Abnormal renal tubule morphology, Unilateral renal agenesis, Abnormality ... |
ORPHA:93101 |
Lymphatic Malformation 11 |
|
Lymphedema, Pedal edema |
OMIM:619401 |
Lower Limb Malformation-Hypospadias Syndrome |
|
Hypospadias, Abnormality of the ureter |
ORPHA:2487 |
Cystic Hamartoma Of Lung And Kidney |
|
Multicystic kidney dysplasia |
ORPHA:2111 |
Indomethacin Embryofetopathy |
|
Abnormal renal tubule morphology, Multicystic kidney dysplasia, Nephropathy, Renal insufficiency |
ORPHA:1909 |
Thomas Syndrome |
|
Renal hypoplasia/aplasia, Multicystic kidney dysplasia |
ORPHA:3316 |
Meckel Syndrome, Type 9 |
|
Multicystic kidney dysplasia |
OMIM:614209 |
Caudal Duplication Anomaly |
|
Ureteral duplication |
OMIM:607864 |
Meckel Syndrome, Type 11 |
|
Polycystic kidney dysplasia |
OMIM:615397 |
Renal Tubular Dysgenesis |
|
Renotubular dysgenesis, Nephropathy, Multiple renal cysts, Proximal tubulopathy |
ORPHA:3033 |
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Renal cyst, Renal hypoplasia, Neonatal death |
OMIM:228940 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Absence of renal corticomedullary differentiation, Splenomegaly, Tubulointerstitial... |
OMIM:263200 |
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Hydroureter, Hydronephrosis |
OMIM:264140 |
Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Ureteropelvic junction obstruction, Vesicoureteral reflux, Stage 5 chronic kidney disease |
OMIM:610805 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Enlarged kidney |
ORPHA:90301 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Renal cyst |
OMIM:174050 |
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Renal angiomyolipoma, Polycystic kidney dysplasia |
OMIM:600273 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Renal cyst |
OMIM:614870 |
Primary Hyperoxaluria Type 2 |
|
Nephrolithiasis, Ureteral obstruction, Recurrent urinary tract infections, Renal insufficiency, H... |
ORPHA:93599 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Abnormality of the kidney, Cystic renal dysplasia, Ectopic kidney |
OMIM:613730 |
Bardet-Biedl Syndrome 4 |
|
Abnormality of the kidney, Renal cyst |
OMIM:615982 |
Lymphedema And Cerebral Arteriovenous Anomaly |
|
Pulmonary arterial hypertension, Lymphedema |
OMIM:152900 |
Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Renal dysplasia |
ORPHA:3032 |
Urofacial Syndrome 1 |
|
Hydroureter, Recurrent urinary tract infections, Hydronephrosis, Urethral valve, Urethral obstruc... |
OMIM:236730 |
Joubert Syndrome 16 |
|
Renal cyst, Nephronophthisis |
OMIM:614465 |
Autosomal Dominant Polycystic Kidney Disease |
|
Nephrolithiasis, Chronic kidney disease, Decreased glomerular filtration rate, Abnormal urinary e... |
ORPHA:730 |
Dysmyelination With Jaundice |
|
Hydroureter, Hypoplasia of penis, Hydronephrosis |
OMIM:224250 |
Adenine Phosphoribosyltransferase Deficiency |
|
Nephrolithiasis, 2,8-dihydroxyadenine crystalluria, Urolithiasis, Hematuria, Oliguria, Renal insu... |
OMIM:614723 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Neonatal death, Ureteral agenesis, Renal dysplasia, Renal cyst, Renal hypoplasia, Stillbirth |
OMIM:236500 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Cystic renal dysplasia, Hepatomegaly, Enlarged kidney |
OMIM:615415 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Focal segmental glomerulosclerosis, Renal cyst, Chronic kidney disease, Nephropathy |
OMIM:617056 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Hydronephrosis, Enlarged kidney |
OMIM:314390 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Chronic kidney disease, Renal tubular atrophy, Hyperechogenic kidneys, Tubulointerstitial fibrosi... |
OMIM:613092 |
Fanconi Anemia, Complementation Group O |
|
Renal cyst, Neonatal death, Hydronephrosis, Stage 5 chronic kidney disease |
OMIM:613390 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Polycystic kidney dysplasia, Hepatic cysts |
OMIM:600666 |
Rhyns Syndrome |
|
Multicystic kidney dysplasia, Nephronophthisis |
ORPHA:140976 |
Genitopalatocardiac Syndrome |
|
Hypospadias, Renal cyst |
OMIM:231060 |
Renal Coloboma Syndrome |
|
Multicystic kidney dysplasia, Renal dysplasia, Renal hypoplasia, Renal insufficiency, Vesicourete... |
ORPHA:1475 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Hypospadias, Abnormality of the ureter, Renal hypoplasia/aplasia, Hypoplasia of penis |
ORPHA:1046 |
Polysyndactyly With Cardiac Malformation |
|
Renal cyst, Stillbirth, Hepatic cysts |
OMIM:263630 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Renal insufficiency, Renal cyst, Nephropathy, Hematuria |
OMIM:611773 |
Joubert Syndrome 20 |
|
Renal cyst |
OMIM:614970 |
Nephronophthisis 3 |
|
Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal insufficien... |
OMIM:604387 |
Nephronophthisis 4 |
|
Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal corticomedu... |
OMIM:606966 |
Isolated Polycystic Liver Disease |
|
Multiple renal cysts |
ORPHA:2924 |
Say Syndrome |
|
Proximal renal tubular acidosis, Cystic renal dysplasia |
OMIM:181180 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion |
OMIM:618773 |
Trisomy X |
|
Renal hypoplasia/aplasia, Multicystic kidney dysplasia |
ORPHA:3375 |
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:3270 |
Meckel Syndrome 13 |
|
Polycystic kidney dysplasia |
OMIM:617562 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Nephrolithiasis, Nephroblastoma, Renal cortical adenoma, Papillary renal cell carcinoma, Polycyst... |
OMIM:145001 |
Nephronophthisis 1 |
|
Renal tubular atrophy, Nephronophthisis, Polyuria, Hyposthenuria, Tubulointerstitial fibrosis, Tu... |
OMIM:256100 |
Lymphatic Malformation 2 |
|
Lymphedema |
OMIM:611944 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Polycystic kidney dysplasia, Renal insufficiency, Hepatic cysts |
OMIM:173900 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Polycystic kidney dysplasia |
OMIM:614859 |
Axial Osteomalacia |
|
Renal cyst |
OMIM:109130 |
Birt-Hogg-Dube Syndrome |
|
Renal cell carcinoma, Renal cyst, Renal neoplasm |
OMIM:135150 |
Alagille Syndrome 2 |
|
Renal tubular acidosis, Hematuria, Renal cyst, Renal hypoplasia, Renal insufficiency, Proteinuria |
OMIM:610205 |
Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Renal cyst, Multiple renal cysts |
OMIM:614883 |
Diaphanospondylodysostosis |
|
Myelomeningocele, Multiple renal cysts |
ORPHA:66637 |
Prune Belly Syndrome |
|
Urogenital sinus anomaly, Abnormality of the ureter, Recurrent urinary tract infections, Hydroure... |
ORPHA:2970 |
Mucopolysaccharidosis-Plus Syndrome |
|
Nephrotic syndrome, Hepatomegaly, Nephritis, Renal tubular atrophy, Splenomegaly, Enlarged kidney... |
OMIM:617303 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Long-chain dicarboxylic aciduria, Hepatomegaly, Ureteral duplication, Enlarged kidney, Renal dysp... |
OMIM:608836 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Renal hypoplasia/aplasia, Vesicoureteral reflux, Multiple renal cysts |
ORPHA:1166 |
Diaphanospondylodysostosis |
|
Nephroblastomatosis, Cystic renal dysplasia, Nephrogenic rest, Enlarged kidney |
OMIM:608022 |
Verheij Syndrome |
|
Renal agenesis, Renal cyst, Renal hypoplasia |
OMIM:615583 |
Penoscrotal Transposition |
|
Renal agenesis, Hypospadias, Abnormality of the ureter, Abnormality of the urethra, Renal dysplas... |
ORPHA:2842 |
Bardet-Biedl Syndrome 6 |
|
Hypospadias, Renal cyst |
OMIM:605231 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Macroscopic hematuria, Membranoproliferative glomerulonephritis, Proteinuria, Enlarged kidney |
ORPHA:251004 |
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome |
|
Urogenital sinus anomaly, Renal hypoplasia/aplasia, Hydroureter, Multicystic kidney dysplasia, Ab... |
ORPHA:2973 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Hydroureter, Hydronephrosis |
OMIM:618240 |
Lymphatic Malformation 7 |
|
Pulmonary edema, Facial edema, Nonimmune hydrops fetalis, Lymphedema, Edema, Pericardial effusion |
OMIM:617300 |
Bor Syndrome |
|
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Ureteropelvic junction obstruction, Renal... |
ORPHA:107 |
Joubert Syndrome 7 |
|
Renal cyst, Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:611560 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Hydroureter, Neonatal death, Hydronephrosis, Fetal megacystis, Megacystis |
OMIM:619362 |
Bladder Exstrophy |
|
Hypoplasia of penis, Abnormality of the ureter, Recurrent urinary tract infections, Bladder exstr... |
ORPHA:93930 |
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects |
|
Myelomeningocele, Ureteral atresia, Hydronephrosis |
OMIM:183802 |
Bladder Exstrophy And Epispadias Complex |
|
Unilateral renal agenesis, Hydroureter, Bladder exstrophy, Horseshoe kidney, Epispadias |
OMIM:600057 |
Nephrolithiasis, Calcium Oxalate |
|
Calcium oxalate nephrolithiasis, Ureteropelvic junction obstruction, Acute kidney injury, Hyperox... |
OMIM:167030 |
White Sponge Nevus 2 |
|
Edema |
OMIM:615785 |
Campomelia, Cumming Type |
|
Polycystic kidney dysplasia, Pancreatic cysts |
OMIM:211890 |
Papillorenal Syndrome |
|
Nephrolithiasis, Chronic kidney disease, Absence of renal corticomedullary differentiation, Multi... |
OMIM:120330 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 |
|
Fetal megacystis, Hydroureter |
OMIM:249210 |
Glycogen Storage Disease Ia |
|
Nephrolithiasis, Hepatomegaly, Decreased glomerular filtration rate, Enlarged kidney, Focal segme... |
OMIM:232200 |
Joubert Syndrome 35 |
|
Multicystic kidney dysplasia, Renal fibrosis, Recurrent urinary tract infections, Hydronephrosis |
OMIM:618161 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Renal dysplasia, Renal cyst, Hydronephrosis, Micropenis |
OMIM:615287 |
Glycogen Storage Disease Ib |
|
Nephrolithiasis, Hepatomegaly, Decreased glomerular filtration rate, Splenomegaly, Enlarged kidne... |
OMIM:232220 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Splenomegaly, Enlarged kidney, Renal dysplasia, Polycystic kidney dysplasia, Renal ... |
OMIM:208540 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal tubular acidosis, Renal dysplasia, Renal cyst, Renal hypoplasia, Renal insufficiency |
OMIM:614922 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Renal agenesis, Ectopic kidney, Ureteral duplication, Horseshoe kidney |
OMIM:602200 |
Endocrine-Cerebroosteodysplasia |
|
Micropenis, Hypospadias, Hyperechogenic kidneys, Enlarged kidney, Microphallus |
OMIM:612651 |
Senior-Loken Syndrome 3 |
|
Nephronophthisis, Polyuria, Renal corticomedullary cysts, Enuresis, Stage 5 chronic kidney disease |
OMIM:606995 |
Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Nephrolithiasis, Hydroureter, Vesicoureteral reflux |
OMIM:617219 |
Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Multicystic kidney dysplasia, Micropenis |
OMIM:300209 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Recurrent urinary tract infections, Multiple renal cysts, Hepatic cysts, Polycystic kidney dyspla... |
OMIM:613095 |
Atresia Of Urethra |
|
Hydroureter, Recurrent urinary tract infections, Bladder fistula, Renal dysplasia, Renal insuffic... |
ORPHA:105 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Decreased glomerular filtration rate, Impaired renal uric acid clearance, ... |
OMIM:174000 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Polyhydramnios, Lymphedema, Facial edema, Edema |
OMIM:618154 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Abnormality of the upper urinary tract, Hydroureter, Hypoplasia of penis, Abnormality of the bladder |
ORPHA:2547 |
Caudal Regression Syndrome |
|
Renal agenesis, Abnormality of the ureter, Ureteral duplication, Renal insufficiency, Ectopic kid... |
ORPHA:3027 |
Renal Cysts And Diabetes Syndrome |
|
Nephrolithiasis, Unilateral renal agenesis, Hypospadias, Abnormality of the kidney, Glycosuria, A... |
OMIM:137920 |
Axial Mesodermal Dysplasia Spectrum |
|
Renal hypoplasia/aplasia, Abnormality of the ureter, Abnormality of the urinary system, Renal cys... |
ORPHA:1834 |
Meckel Syndrome, Type 10 |
|
Hypospadias, Renal cyst, Micropenis |
OMIM:614175 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Abnormality of the ureter |
ORPHA:1035 |
Igg4-Related Kidney Disease |
|
Chronic kidney disease, Abnormal ureter morphology, Nephrotic range proteinuria, Urethritis, Uret... |
ORPHA:449395 |
Leigh Syndrome With Nephrotic Syndrome |
|
Nephrotic syndrome, Renal tubular acidosis, Tubulointerstitial nephritis, Renal cyst, Heavy prote... |
ORPHA:255249 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Unilateral renal agenesis, Bilateral renal agenesis, Ureteral atresia |
OMIM:618845 |
Nephronophthisis-Like Nephropathy 1 |
|
Renal tubular atrophy, Nephronophthisis, Hyperechogenic kidneys, Tubular basement membrane disint... |
OMIM:613159 |
Silver-Russell Syndrome 1 |
|
Hypospadias, Abnormality of the ureter, Nephroblastoma, Urethral valve, Congenital posterior uret... |
OMIM:180860 |
Acrocephalopolydactylous Dysplasia |
|
Cystic renal dysplasia, Hepatomegaly, Enlarged kidney |
OMIM:200995 |
Beckwith-Wiedemann Syndrome |
|
Nephrolithiasis, Renal cortical cysts, Hepatomegaly, Pancreatic hyperplasia, Nephroblastoma, Enla... |
OMIM:130650 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Renal cortical cysts, Glycosuria, Neonatal death, Generalized aminoaciduria, Polycystic kidney dy... |
OMIM:231680 |
Meckel Syndrome, Type 5 |
|
Renal cyst |
OMIM:611561 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Renal dysplasia, Polycystic kidney dysplasia, Micropenis, Enlarged kidney |
OMIM:613091 |
Kaposiform Lymphangiomatosis |
|
Hepatosplenomegaly, Splenomegaly, Multiple renal cysts, Enlarged kidney |
ORPHA:464329 |
Bardet-Biedl Syndrome 17 |
|
Renal cyst, Polyuria, Stage 5 chronic kidney disease, Micropenis |
OMIM:615994 |
Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Enlarged kidney |
ORPHA:79128 |
Tyrosinemia, Type I |
|
Hepatomegaly, Splenomegaly, Elevated urinary delta-aminolevulinic acid, Enlarged kidney, Renal Fa... |
OMIM:276700 |
H Syndrome |
|
Abnormality of the kidney, Hepatosplenomegaly, Micropenis, Enlarged kidney |
ORPHA:168569 |
Coach Syndrome 1 |
|
Nephronophthisis, Unilateral renal agenesis, Renal cyst, Multiple small medullary renal cysts, St... |
OMIM:216360 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Renal cyst, Multicystic kidney dysplasia, Meningocele |
ORPHA:2031 |
Caudal Duplication |
|
Abnormal penis morphology, Renal hypoplasia/aplasia, Ureteral duplication, Myelomeningocele |
ORPHA:1756 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Nephrotic syndrome, Hepatosplenomegaly, Heparan sulfate excretion in urine, Enlarged kidney, Urin... |
ORPHA:505248 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Renal cyst, Nephrocalcinosis, Ureteral stenosis, Hypercalciuria |
OMIM:615398 |
Lymphangiectasia, Pulmonary, Congenital |
|
Facial edema, Chylothorax, Chylous ascites, Palpebral edema, Nonimmune hydrops fetalis, Polyhydra... |
OMIM:265300 |
Nephronophthisis 11 |
|
Renal tubular atrophy, Nephronophthisis, Polyuria, Tubular basement membrane disintegration, Rena... |
OMIM:613550 |
Polycystic Kidney, Cataract, And Congenital Blindness |
|
Polycystic kidney dysplasia |
OMIM:263100 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hypospadias, Abnormality of the ureter |
ORPHA:2522 |
Femoral-Facial Syndrome |
|
Renal hypoplasia/aplasia, Polycystic kidney dysplasia, Abnormal localization of kidney, Long penis |
ORPHA:1988 |
Urban-Rogers-Meyer Syndrome |
|
Abnormality of the ureter, Hypoplasia of penis |
ORPHA:3409 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Nephroblastoma, Enlarged kidney |
ORPHA:276280 |
Joubert Syndrome 14 |
|
Renal cyst |
OMIM:614424 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Renal cyst |
OMIM:614862 |
Meckel Syndrome, Type 2 |
|
Renal cyst, Meningocele |
OMIM:603194 |
17Q12 Microdeletion Syndrome |
|
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Renal insufficiency, Ureterocele |
ORPHA:261265 |
Trisomy 13 |
|
Displacement of the urethral meatus, Abnormality of the ureter, Multiple renal cysts, Hydronephrosis |
ORPHA:3378 |
Alg9-Cdg |
|
Ureteral hypoplasia, Hepatomegaly, Hypoplasia of the bladder, Enlarged kidney, Hydronephrosis, Ab... |
ORPHA:79328 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Renal cyst, Proximal tubulopathy |
OMIM:602579 |
Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Splenomegaly, Enlarged kidney, Mucopolysacchariduria, Cardiomegaly |
OMIM:252500 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Nephrolithiasis, Hepatomegaly, Tubulointerstitial fibrosis, Enlarged kidney, Proteinuria, Nephroc... |
ORPHA:79259 |
Autosomal Recessive Polycystic Kidney Disease |
|
Reduced renal corticomedullary differentiation, Splenomegaly, Hepatosplenomegaly, Recurrent urina... |
ORPHA:731 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hypospadias, Renal cyst, Polycystic kidney dysplasia, Renal hypoplasia |
OMIM:614091 |
Wolfram Syndrome, Mitochondrial Form |
|
Hydroureter, Hydronephrosis |
OMIM:598500 |
Branchiootorenal Syndrome 1 |
|
Unilateral renal agenesis, Abnormal renal collecting system morphology, Renal dysplasia, Renal st... |
OMIM:113650 |
Hereditary Orotic Aciduria |
|
Abnormality of the ureter, Oroticaciduria, Aminoaciduria, Orotic acid crystalluria |
ORPHA:30 |
3-Methylglutaconic Aciduria Type 7 |
|
Renal cyst, Nephrocalcinosis, 3-Methylglutaconic aciduria, Renal insufficiency |
ORPHA:445038 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Polycystic ovaries, Abnormality of the ureter, Renal hypoplasia/aplasia |
ORPHA:1770 |
Meckel Syndrome, Type 3 |
|
Multicystic kidney dysplasia |
OMIM:607361 |
Peutz-Jeghers Syndrome |
|
Renal cell carcinoma, Abnormality of the ureter, Enlarged polycystic ovaries, Multiple renal cysts |
ORPHA:2869 |
Meckel Syndrome, Type 4 |
|
Renal cyst, Meningocele |
OMIM:611134 |
Meckel Syndrome, Type 6 |
|
Aplasia of the bladder, Renal cyst, Horseshoe kidney, Hepatic cysts |
OMIM:612284 |
Distal Renal Tubular Acidosis |
|
Nephrolithiasis, Aminoaciduria, Decreased glomerular filtration rate, Low-molecular-weight protei... |
ORPHA:18 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Nephroblastoma, Bifid ureter, Enlarged kidney, Renal malrotation |
ORPHA:500095 |
Congenital Disorder Of Glycosylation, Type Il |
|
Polycystic kidney dysplasia |
OMIM:608776 |
Cloacal Exstrophy |
|
Myelomeningocele, Renal hypoplasia/aplasia, Hypoplasia of penis, Ureterocele, Hydroureter, Bladde... |
ORPHA:93929 |
Exstrophy-Epispadias Complex |
|
Bladder duplication, Cystocele, Abnormality of the kidney, Abnormality of the ureter, Bladder fis... |
ORPHA:322 |
Beckwith-Wiedemann Syndrome |
|
Nephrolithiasis, Hepatomegaly, Congenital megaureter, Splenomegaly, Nephroblastoma, Ureteral dupl... |
ORPHA:116 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Renal cyst, Renal hypoplasia, Hydronephrosis, Vesicoureteral reflux, Microphallus |
OMIM:618454 |
Chromosome 17Q12 Deletion Syndrome |
|
Unilateral renal agenesis, Ovarian cyst, Multicystic kidney dysplasia, Hypoplasia of the bladder,... |
OMIM:614527 |
Renal Agenesis |
|
Unilateral renal agenesis, Renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral renal age... |
ORPHA:411709 |
Meacham Syndrome |
|
Horseshoe kidney, Enlarged kidney |
OMIM:608978 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Hydroureter, Multicystic kidney dysplasia, Megacystis |
ORPHA:2241 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian dermoid cyst, Renal cyst |
ORPHA:480536 |
Bardet-Biedl Syndrome |
|
Nephrotic syndrome, Multicystic kidney dysplasia, Hypoplasia of penis |
ORPHA:110 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Megacystis, Hydroureter, Hydronephrosis |
OMIM:619431 |
Prune Belly Syndrome |
|
Hydroureter, Congenital posterior urethral valve, Hydronephrosis, Urethral valve |
OMIM:100100 |
Odontochondrodysplasia 1 |
|
Polycystic kidney dysplasia, Nephronophthisis |
OMIM:184260 |
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Fetal megacystis, Multicystic kidney dysplasia |
ORPHA:73246 |
Campomelia, Cumming Type |
|
Multicystic kidney dysplasia, Multiple renal cysts, Pancreatic cysts |
ORPHA:1318 |
Smith-Magenis Syndrome |
|
Abnormality of the ureter, Renal hypoplasia/aplasia, Abnormal localization of kidney |
ORPHA:819 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Renal agenesis, Hypospadias, Multicystic kidney dysplasia, Renal Fanconi syndrome, Renal cell car... |
ORPHA:93111 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Myoglobinuria, Cystic renal dysplasia, Red-brown urine, Tubulointerstitial nephritis, Polycystic ... |
ORPHA:157 |
Kleefstra Syndrome |
|
Hypoplasia of penis, Micropenis, Hypospadias, Renal cyst, Renal insufficiency, Hydronephrosis, Ve... |
ORPHA:261494 |
Vacterl/Vater Association |
|
Hypoplasia of penis, Renal agenesis, Hypospadias, Abnormality of the urethra, Multicystic kidney ... |
ORPHA:887 |
Pallister-Hall Syndrome |
|
Distal urethral duplication, Micropenis, Hydroureter, Neonatal death, Renal dysplasia, Renal cyst... |
OMIM:146510 |
Trisomy 1Q |
|
Multicystic kidney dysplasia, Hydronephrosis, Congenital megaureter |
ORPHA:261344 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Renal cortical microcysts, Renal cyst |
OMIM:614866 |
Aredyld Syndrome |
|
Abnormality of the ureter |
ORPHA:1133 |
Thauvin-Robinet-Faivre Syndrome |
|
Nephroblastoma, Renal dysplasia, Bifid ureter, Renal cyst, Renal malrotation |
OMIM:617107 |
Braddock-Carey Syndrome 1 |
|
Multicystic kidney dysplasia |
OMIM:619980 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Renal cyst |
ORPHA:79303 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Renal cyst, Horseshoe kidney |
ORPHA:166035 |
Distal Tetrasomy 15Q |
|
Abnormality of the kidney, Nephroblastoma, Polycystic kidney dysplasia, Horseshoe kidney, Hydrone... |
ORPHA:314588 |
Leprechaunism |
|
Hepatomegaly, Hypercalciuria, Long penis, Enlarged kidney, Enlarged ovaries, Nephrocalcinosis |
ORPHA:508 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Polycystic kidney dysplasia |
OMIM:263210 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Dysuria, Ureterocele, Hydroureter, Ureteral obstruction, Urethral stricture, Multicystic kidney d... |
ORPHA:79404 |
Ogden Syndrome |
|
Global glomerulosclerosis, Polycystic kidney dysplasia, Cardiomegaly, Enlarged kidney |
OMIM:300855 |
Penile Agenesis |
|
Urethral atresia, male, Urethral fistula, Bilateral renal hypoplasia, Hydroureter, Cystic renal d... |
ORPHA:49 |
Trisomy 20P |
|
Abnormality of the kidney, Abnormality of the ureter, Hypospadias, Multiple renal cysts, Abnormal... |
ORPHA:261318 |
Arima Syndrome |
|
Occipital meningocele, Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Poly... |
OMIM:243910 |
Mody |
|
Nephropathy, Abnormality of the kidney, Renal cyst, Glycosuria |
ORPHA:552 |
Meckel Syndrome, Type 7 |
|
Multiple glomerular cysts, Multicystic kidney dysplasia, Pancreatic cysts, Stage 5 chronic kidney... |
OMIM:267010 |
Nabais Sa-De Vries Syndrome, Type 2 |
|
Multicystic kidney dysplasia |
OMIM:618829 |
Deafness, Unilateral, With Delayed Endolymphatic Hydrops |
|
Edema |
OMIM:612097 |
Harrod Syndrome |
|
Hypospadias, Multicystic kidney dysplasia |
ORPHA:2115 |
Aneurysm Of Sinus Of Valsalva |
|
Edema, Aortic regurgitation, Congestive heart failure, Heart murmur |
ORPHA:1054 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Unilateral renal agenesis, Renal dysplasia, Polycystic kidney dysplasia, Renal insufficiency, Hyd... |
ORPHA:2237 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsorption, Hypocalci... |
OMIM:600740 |
Trisomy 17P |
|
Hypoplasia of penis, Polycystic kidney dysplasia, Urethral stenosis, Hydronephrosis, Urethral valve |
ORPHA:261290 |
Cystic Echinococcosis |
|
Ovarian cyst, Renal cyst, Membranous nephropathy, Hepatic cysts |
ORPHA:400 |
Transketolase Deficiency |
|
Renal cyst, Increased level of ribose in urine |
ORPHA:488618 |
Marden-Walker Syndrome |
|
Renal hypoplasia/aplasia, Abnormal penis morphology, Hypospadias, Hydroureter, Multicystic kidney... |
ORPHA:2461 |
Immunodeficiency 96 |
|
Multicystic kidney dysplasia |
OMIM:619774 |
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Cystic renal dysplasia, Renal agenesis |
OMIM:220500 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Myoglobinuria, Cystic renal dysplasia, Red-brown urine, Dicarboxylic aciduria, Tubulointerstitial... |
ORPHA:228308 |
Heterotaxy, Visceral, 1, X-Linked |
|
Hepatomegaly, Renal agenesis, Enlarged kidney, Horseshoe kidney, Cardiomegaly |
OMIM:306955 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Renal cyst |
OMIM:615560 |
Peroxisome Biogenesis Disorder 1B |
|
Renal cyst, Hyperoxaluria |
OMIM:601539 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Aplasia of the bladder, Ureterocele, Urethral stricture, Hematuria, Renal duplication, Renal dysp... |
ORPHA:79403 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Hypospadias, Abnormality of the ureter |
ORPHA:2311 |
Mosaic Trisomy 1 |
|
Penile hypospadias, Renal cyst, Renal cortical cysts, Micropenis |
ORPHA:1692 |
Genitopalatocardiac Syndrome |
|
Hypospadias, Multicystic kidney dysplasia |
ORPHA:2075 |
Radio-Renal Syndrome |
|
Renal agenesis, Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Renal dysplasia |
ORPHA:3015 |
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Renal cortical cysts |
OMIM:617668 |
Alagille Syndrome |
|
Abnormality of the ureter, Nephrotic syndrome, Renal hypoplasia/aplasia |
ORPHA:52 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Renal cyst, Horseshoe kidney |
OMIM:250410 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal dysplasia |
OMIM:308205 |
Branchio-Oculo-Facial Syndrome |
|
Renal agenesis, Multicystic kidney dysplasia, Hydronephrosis |
ORPHA:1297 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Congenital megaureter, Abnormality of the urinary system, Hypercalciuria, Renal dysplasia, Renal ... |
ORPHA:369837 |
Senior-Boichis Syndrome |
|
Renal atrophy, Chronic kidney disease, Reduced renal corticomedullary differentiation, Hyperechog... |
ORPHA:84081 |
Toriello-Lacassie-Droste Syndrome |
|
Abnormal penis morphology, Hypospadias, Abnormality of the ureter, Abnormality of the bladder, Ep... |
ORPHA:3339 |
Nephrogenic Diabetes Insipidus |
|
Hydroureter, Hyposthenuria, Functional abnormality of the bladder, Renal insufficiency, Enuresis ... |
ORPHA:223 |
Mckusick-Kaufman Syndrome |
|
Polycystic kidney dysplasia, Hydroureter, Vesicovaginal fistula, Hydronephrosis |
OMIM:236700 |
Meckel Syndrome 12 |
|
Renal agenesis, Ureteral hypoplasia, Renal hypoplasia |
OMIM:616258 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Renal cyst, Polycystic kidney dysplasia, Pancreatic cysts |
OMIM:610199 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
3-Methylglutaric aciduria, Polycystic kidney dysplasia, Glutaric aciduria, Lacticaciduria, Ethylm... |
ORPHA:26791 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Chronic kidney disease, Nephritis, Renal cyst, Proteinuria, Renal insufficiency, Pancreatic cysts |
OMIM:208500 |
Zellweger Syndrome |
|
Hypospadias, Multicystic kidney dysplasia, Hydronephrosis |
ORPHA:912 |
Joubert Syndrome 2 |
|
Renal cyst, Renal insufficiency, Nephronophthisis |
OMIM:608091 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Nephrolithiasis, Nephroblastoma, Hypercalciuria, Renal cyst, Renal insufficiency, Renal hamartoma... |
ORPHA:99880 |
Von Hippel-Lindau Syndrome |
|
Renal cell carcinoma, Epididymal cyst, Multiple renal cysts, Pancreatic cysts |
OMIM:193300 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Renal cyst, Nephrotic syndrome, Proteinuria, Proximal tubulopathy |
OMIM:212065 |
Baller-Gerold Syndrome |
|
Abnormality of the ureter, Vesicoureteral reflux, Abnormal localization of kidney, Hydronephrosis |
ORPHA:1225 |
Mckusick-Kaufman Syndrome |
|
Urogenital sinus anomaly, Renal hypoplasia/aplasia, Glandular hypospadias, Urethral stricture, Mu... |
ORPHA:2473 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Polycystic kidney dysplasia, Hyperechogenic kidneys |
OMIM:617866 |
Diabetic Embryopathy |
|
Renal hypoplasia/aplasia, Ureteral duplication, Hydronephrosis, Micropenis |
ORPHA:1926 |
Joubert Syndrome 21 |
|
Renal cyst, Hyperechogenic kidneys |
OMIM:615636 |
Ventriculomegaly With Cystic Kidney Disease |
|
Renal corticomedullary cysts, Renal insufficiency |
OMIM:219730 |
Parathyroid Carcinoma |
|
Nephrolithiasis, Nephroblastoma, Hypercalciuria, Renal cyst, Renal insufficiency, Renal hamartoma... |
ORPHA:143 |
Cornelia De Lange Syndrome 1 |
|
Reduced renal corticomedullary differentiation, Hypospadias, Abnormal renal morphology, Renal cys... |
OMIM:122470 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Polycystic kidney dysplasia, Aminoaciduria |
OMIM:214110 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Renal cyst, Renal dysplasia |
OMIM:617260 |
Cardiac Valvular Dysplasia 1 |
|
Hydroureter, Hydronephrosis, Urethral diverticulum |
OMIM:212093 |
Ellis Van Creveld Syndrome |
|
Renal hypoplasia/aplasia, Abnormality of the kidney, Hydroureter, Abnormality of the ureter, Hypo... |
ORPHA:289 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Multiple renal cysts, Renal dysplasia, Horseshoe kidney, Hydronephrosis |
ORPHA:99776 |
Microgastria-Limb Reduction Defects Association |
|
Unilateral renal agenesis, Horseshoe kidney, Pelvic kidney, Cystic renal dysplasia |
OMIM:156810 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Micropenis, Unilateral renal agenesis, Hypospadias, Renal cyst, Hydronephrosis, Pelvic kidney |
ORPHA:464311 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hepatomegaly, Right ventricular hypertrophy, Splenomegaly, Hypospadias, Nephroblastoma, Enlarged ... |
OMIM:312870 |
2Q37 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Nephroblastoma |
ORPHA:1001 |
Phelan-Mcdermid Syndrome |
|
Abnormality of the kidney, Polycystic kidney dysplasia, Vesicoureteral reflux |
OMIM:606232 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Renal cyst, Renal insufficiency |
OMIM:617478 |
Joubert Syndrome 1 |
|
Renal cyst, Nephropathy, Occipital myelomeningocele |
OMIM:213300 |
Dextrocardia |
|
Abnormality of the ureter, Abnormal renal morphology |
ORPHA:1666 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Aplasia of the bladder, Ureterocele, Abnormality of the urinary system, Abnormality of the urethr... |
ORPHA:158684 |
Neuromuscular Oculoauditory Syndrome |
|
Multiple renal cysts, Reduced renal corticomedullary differentiation |
OMIM:618733 |
Alveolar Echinococcosis |
|
Abnormality of bladder morphology, Renal cyst, Pancreatic cysts, Hepatic cysts |
ORPHA:284 |
Fryns Syndrome |
|
Hypospadias, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis |
ORPHA:2059 |
Joubert Syndrome 39 |
|
Polycystic kidney dysplasia |
OMIM:619562 |
Stankiewicz-Isidor Syndrome |
|
Hypospadias, Ureteral duplication, Micropenis |
OMIM:617516 |
15q26 overgrowth syndrome |
|
Renal agenesis, Abnormality of the kidney, Polycystic kidney dysplasia, Horseshoe kidney, Hydrone... |
DECIPHER:81 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Nephronophthisis, Reduced renal corticomedullary differentiation, Ureteral duplication, Renal dys... |
OMIM:266920 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Renal cyst, Renal hypoplasia |
OMIM:616300 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Micropenis, Unilateral renal agenesis, Hypospadias, Renal cyst, Hydronephrosis, Pelvic kidney |
ORPHA:464306 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Abnormality of the ureter |
ORPHA:3253 |
Tuberous Sclerosis 1 |
|
Renal angiomyolipoma, Renal cyst, Renal cell carcinoma |
OMIM:191100 |
Tuberous Sclerosis 2 |
|
Renal angiomyolipoma, Renal cyst, Absence of renal corticomedullary differentiation, Renal cell c... |
OMIM:613254 |
Tuberous Sclerosis Complex |
|
Chronic kidney disease, Renal angiomyolipoma, Abnormality of the kidney, Hepatic cysts, Renal cys... |
ORPHA:805 |
Czeizel-Losonci Syndrome |
|
Abnormality of the urinary system, Hydronephrosis, Ureteral agenesis, Congenital megaureter |
ORPHA:2437 |
2P15P16.1 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Hydronephrosis |
ORPHA:261349 |
Genitopatellar Syndrome |
|
Multicystic kidney dysplasia, Hydronephrosis |
ORPHA:85201 |
Epidermal Nevus Syndrome |
|
Polycystic kidney dysplasia |
ORPHA:35125 |
Attenuated Familial Adenomatous Polyposis |
|
Multiple renal cysts |
ORPHA:220460 |
Short Rib-Polydactyly Syndrome |
|
Urogenital sinus anomaly, Nephronophthisis, Hypospadias, Abnormality of the kidney, Hepatic cysts... |
ORPHA:1505 |
Noonan Syndrome 9 |
|
Hydroureter |
OMIM:616559 |
Cardiac-Urogenital Syndrome |
|
Penoscrotal hypospadias, Patent urachus, Micropenis, Enlarged kidney |
OMIM:618280 |
Wolfram Syndrome 1 |
|
Hydroureter, Neurogenic bladder, Hydronephrosis |
OMIM:222300 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:261197 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Hypospadias, Renal cyst, Nephroblastoma, Micropenis |
OMIM:257300 |
Atelosteogenesis Type I |
|
Multiple renal cysts |
ORPHA:1190 |
Tetraamelia-Multiple Malformations Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:3301 |
Fryns Syndrome |
|
Renal agenesis, Hypospadias, Ureteral duplication, Renal cyst, Hydronephrosis, Stillbirth |
OMIM:229850 |
Joubert Syndrome With Hepatic Defect |
|
Multicystic kidney dysplasia, Nephropathy, Renal insufficiency |
ORPHA:1454 |
Mpdu1-Cdg |
|
Renal cortical cysts |
ORPHA:79323 |
Peutz-Jeghers Syndrome |
|
Bladder polyp, Abnormality of the ureter, Ovarian cyst |
OMIM:175200 |
Codas Syndrome |
|
Hydroureter |
ORPHA:1458 |
Mandibulofacial Dysostosis With Alopecia |
|
Hydroureter |
OMIM:616367 |
Koolen-De Vries Syndrome |
|
Hypospadias, Renal duplication, Ureteral duplication, Hydronephrosis, Vesicoureteral reflux |
ORPHA:96169 |
Microgastria-Limb Reduction Defect Syndrome |
|
Renal hypoplasia/aplasia, Renal agenesis, Multicystic kidney dysplasia, Crossed fused renal ectop... |
ORPHA:2538 |
Focal Dermal Hypoplasia |
|
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Horseshoe kidney, Hydronephrosis |
ORPHA:2092 |
Diphallia |
|
Distal urethral duplication, Hypospadias, Ureteral duplication, Renal duplication, Bladder exstro... |
ORPHA:227 |
Familial Visceral Myopathy |
|
Hydroureter, Vesicoureteral reflux, Megacystis |
ORPHA:2604 |
Acrorenal-Mandibular Syndrome |
|
Aplasia of the bladder, Abnormality of the ureter, Polycystic kidney dysplasia, Renal agenesis |
OMIM:200980 |
Vici Syndrome |
|
Ureteral atresia, Renal tubular acidosis |
ORPHA:1493 |
Floating-Harbor Syndrome |
|
Epididymal cyst, Renal agenesis, Hypospadias, Renal cyst, Polycystic kidney dysplasia, Hydronephr... |
ORPHA:2044 |
D-Bifunctional Protein Deficiency |
|
Renal cyst |
OMIM:261515 |
Short-Rib Thoracic Dysplasia 12 |
|
Renal hypoplasia, Cystic renal dysplasia, Neonatal death |
OMIM:269860 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Ureteral hypoplasia, Bladder trabeculation, Ureteral duplication, Renal dysplasia, Hydronephrosis... |
OMIM:614080 |
Smith-Lemli-Opitz Syndrome |
|
Micropenis, Unilateral renal agenesis, Hypospadias, Renal agenesis, Renal cyst, Ureteropelvic jun... |
OMIM:270400 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Hypospadias, Renal cyst, Vesicoureteral reflux |
OMIM:616975 |
Joubert Syndrome 5 |
|
Impaired renal concentrating ability, Renal cortical cysts, Reduced renal corticomedullary differ... |
OMIM:610188 |
Schinzel-Giedion Syndrome |
|
Nephrolithiasis, Micropenis, Hypospadias, Abnormality of the ureter, Nephroblastoma, Renal cyst, ... |
ORPHA:798 |
Meckel Syndrome 14 |
|
Polycystic kidney dysplasia |
OMIM:619879 |
Cerebrocostomandibular Syndrome |
|
Renal cyst, Horseshoe kidney, Ectopic kidney |
OMIM:117650 |
Cerebrocostomandibular Syndrome |
|
Myelomeningocele, Multicystic kidney dysplasia, Meningocele |
ORPHA:1393 |
Schwartz-Jampel Syndrome |
|
Nephrolithiasis, Abnormality of the urinary system, Abnormality of the ureter |
ORPHA:800 |
Hajdu-Cheney Syndrome |
|
Hypospadias, Renal cyst |
OMIM:102500 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Ureteral duplication |
OMIM:270420 |
Orofaciodigital Syndrome I |
|
Myelomeningocele, Ovarian cyst, Hepatic cysts, Polycystic kidney dysplasia, Proteinuria, Pancreat... |
OMIM:311200 |
Lymphangioleiomyomatosis |
|
Abnormal urinary color, Renal neoplasm, Renal angiomyolipoma, Hematuria, Multiple renal cysts |
ORPHA:538 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Renal cyst, Renal hypoplasia, Stillbirth, Micropenis |
OMIM:210710 |
Noonan Syndrome 4 |
|
Ureteral duplication, Hydronephrosis |
OMIM:610733 |
Distal Monosomy 12Q |
|
Micropenis, Polycystic kidney dysplasia, Ectopic kidney, Hydronephrosis, Vesicoureteral reflux |
ORPHA:96149 |
Simpson-Golabi-Behmel Syndrome |
|
Hypoplasia of penis, Hypospadias, Hydroureter, Multicystic kidney dysplasia, Ureteral duplication... |
ORPHA:373 |
Caroli Disease |
|
Polycystic kidney dysplasia |
ORPHA:53035 |
Histiocytoid Cardiomyopathy |
|
Polycystic ovaries, Renal cyst |
ORPHA:137675 |
Microphthalmia, Lenz Type |
|
Hypospadias, Hydroureter, Renal hypoplasia/aplasia, Hydronephrosis |
ORPHA:568 |
Alagille Syndrome 1 |
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Renal tubular acidosis, Renal dysplasia, Focal segmental glomerulosclerosis, Renal hypoplasia, Du... |
OMIM:118450 |
Pearson Syndrome |
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Glycosuria, Renal cyst, Renal insufficiency, Proteinuria, Lacticaciduria |
ORPHA:699 |
Carpenter Syndrome 1 |
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Hydroureter, Hydronephrosis |
OMIM:201000 |
Oculocerebrorenal Syndrome Of Lowe |
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Nephrolithiasis, Oligosacchariduria, Aminoaciduria, Abnormal renal tubule morphology, Proximal re... |
ORPHA:534 |
Von Hippel-Lindau Disease |
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Elevated urinary catecholamines, Multiple renal cysts, Renal cell carcinoma, Epididymal cyst, Pan... |
ORPHA:892 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
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Renal cortical cysts, Hypospadias, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, ... |
ORPHA:397715 |
Smith-Lemli-Opitz Syndrome |
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Renal hypoplasia/aplasia, Hypoplasia of penis, Hypospadias, Multicystic kidney dysplasia, Uretero... |
ORPHA:818 |
Cutis Marmorata Telangiectatica Congenita |
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Displacement of the urethral meatus, Multicystic kidney dysplasia |
ORPHA:1556 |
Meckel Syndrome |
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Urethral atresia, Multicystic kidney dysplasia, Ureteral duplication, Pancreatic cysts |
ORPHA:564 |
Cranioectodermal Dysplasia 2 |
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Renal cyst, Renal insufficiency |
OMIM:613610 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
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Hypospadias, Hyperuricosuria, Urolithiasis, Renal insufficiency, Uric acid nephrolithiasis |
OMIM:300661 |
Meckel Syndrome, Type 1 |
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Renal agenesis, Abnormality of the ureter, Hypoplasia of the bladder, Cystic renal dysplasia, Pol... |
OMIM:249000 |
Orofaciodigital Syndrome Type 1 |
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Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Hydronephrosis, Pancreatic cysts |
ORPHA:2750 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
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Polycystic kidney dysplasia, Micropenis |
OMIM:263520 |
Scalp-Ear-Nipple Syndrome |
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Abnormality of the kidney, Recurrent urinary tract infections, Ureteral duplication, Pyelonephrit... |
ORPHA:2036 |
Pagod Syndrome |
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Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Meningocele |
ORPHA:991 |
Spondylocarpotarsal Synostosis Syndrome |
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Renal cyst |
OMIM:272460 |
C Syndrome |
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Renal cortical cysts |
OMIM:211750 |
Oeis Complex |
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Vesicovaginal fistula, Micropenis, Renal agenesis, Hydroureter, Bladder exstrophy, Duplicated col... |
OMIM:258040 |
Autosomal Recessive Robinow Syndrome |
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Multicystic kidney dysplasia, Hypoplasia of penis, Hydronephrosis |
ORPHA:1507 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
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Bladder diverticulum, Ureterocele, Micropenis, Renal agenesis, Hydroureter, Renal dysplasia, Dupl... |
OMIM:604292 |
22Q11.2 Deletion Syndrome |
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Hypospadias, Multiple renal cysts, Polycystic kidney dysplasia, Renal hypoplasia, Meningocele, Ve... |
ORPHA:567 |
Syndromic Diarrhea |
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Polycystic kidney dysplasia, Renal hypoplasia |
ORPHA:84064 |
Osteopathia Striata With Cranial Sclerosis |
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Multicystic kidney dysplasia |
OMIM:300373 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
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Vesicoureteral reflux, Renal cortical cysts |
OMIM:618548 |
1P36 Deletion Syndrome |
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Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Renal cyst, Hydronephrosis |
ORPHA:1606 |
Trisomy 10P |
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Abnormality of the kidney, Multiple renal cysts |
ORPHA:171929 |
Mosaic Variegated Aneuploidy Syndrome |
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Multicystic kidney dysplasia, Nephroblastoma |
ORPHA:1052 |
Caroli Syndrome |
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Abnormality of the kidney, Polycystic kidney dysplasia |
ORPHA:480520 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
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Hypospadias, Renal cyst |
ORPHA:495875 |
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, And Psychomotor Delay |
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Bifid ureter, Vesicoureteral reflux, Ureteral duplication |
OMIM:601347 |
Raine Syndrome |
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Hydroureter, Neonatal death, Hydronephrosis |
OMIM:259775 |
Hajdu-Cheney Syndrome |
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Hypospadias, Multiple renal cysts |
ORPHA:955 |
Robinow Syndrome |
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Webbed penis, Multicystic kidney dysplasia, Hydronephrosis, Micropenis |
ORPHA:97360 |
Jacobsen Syndrome |
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Multicystic kidney dysplasia, Hydronephrosis |
ORPHA:2308 |
Townes-Brocks Syndrome |
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Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Multiple renal cysts, Renal hypoplas... |
ORPHA:857 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
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Abnormality of the upper urinary tract, Hydroureter, Hydronephrosis |
ORPHA:2995 |
Williams Syndrome |
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Nephrolithiasis, Bladder diverticulum, Hypoplasia of penis, Polycystic ovaries, Recurrent urinary... |
ORPHA:904 |
Roberts Syndrome |
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Polycystic kidney dysplasia, Long penis |
ORPHA:3103 |
Congenital Tracheal Stenosis |
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Abnormality of the kidney, Abnormality of the ureter |
ORPHA:141127 |
Distal Monosomy 15Q |
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Hypospadias, Multicystic kidney dysplasia, Abnormal localization of kidney, Micropenis |
ORPHA:1596 |
Castleman Disease |
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Renal insufficiency, Ureteral obstruction, Hematuria |
ORPHA:160 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
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Unilateral renal dysplasia, Congenital megaureter, Abnormal renal collecting system morphology, H... |
ORPHA:280633 |
Femoral-Facial Syndrome |
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Abnormal renal collecting system morphology, Polycystic kidney dysplasia, Renal agenesis, Micropenis |
OMIM:134780 |
Cockayne Syndrome Type 3 |
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Unilateral renal agenesis, Hydroureter, Urinary retention, Renal hypoplasia, Renal insufficiency,... |
ORPHA:90324 |
Townes-Brocks Syndrome 1 |
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Hypospadias, Multicystic kidney dysplasia, Renal dysplasia, Renal hypoplasia, Renal insufficiency... |
OMIM:107480 |
Frontometaphyseal Dysplasia 1 |
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Hydroureter, Hydronephrosis |
OMIM:305620 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
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Bladder diverticulum, Ureterocele, Micropenis, Renal agenesis, Hydroureter, Renal dysplasia, Dupl... |
OMIM:129900 |
Otopalatodigital Syndrome Type 2 |
|
Hypospadias, Ureteral obstruction, Hydronephrosis |
ORPHA:90652 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
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Hypoplasia of penis, Urethrovaginal fistula, Renal cyst, Renal hypoplasia, Hydronephrosis |
ORPHA:93271 |
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome |
|
Ureteral duplication, Duplication of renal pelvis |
ORPHA:457212 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
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Hydroureter |
OMIM:610759 |
Fraser Syndrome |
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Myelomeningocele, Urethral atresia, Hypoplasia of penis, Hypospadias, Multicystic kidney dysplasi... |
ORPHA:2052 |
C Syndrome |
|
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Horseshoe kidney |
ORPHA:1308 |
Tetrasomy 9P |
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Micropenis, Recurrent urinary tract infections, Multiple renal cysts, Renal dysplasia, Horseshoe ... |
ORPHA:3310 |
Thrombocytopenia-Absent Radius Syndrome |
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Ureteral duplication, Horseshoe kidney, Dilatation of the renal pelvis, Axial malrotation of the ... |
OMIM:274000 |
Faciocardiorenal Syndrome |
|
Hydroureter, Horseshoe kidney |
OMIM:227280 |
Peters Plus Syndrome |
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Renal hypoplasia/aplasia, Hypospadias, Multicystic kidney dysplasia, Ureteral duplication, Renal ... |
ORPHA:709 |
Schinzel-Giedion Midface Retraction Syndrome |
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Micropenis, Hypospadias, Hydroureter, Ureteral stenosis, Hydronephrosis |
OMIM:269150 |
Fanconi Anemia |
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Renal hypoplasia/aplasia, Abnormal preputium morphology, Hypospadias, Abnormality of the urinary ... |
ORPHA:84 |
Proteus Syndrome |
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Renal cyst, Enlarged polycystic ovaries, Long penis |
ORPHA:744 |
Peroxisome Biogenesis Disorder 4B |
|
Ureterocele |
OMIM:614863 |
Hardikar Syndrome |
|
Hydroureter, Recurrent urinary tract infections, Hypoplasia of the bladder, Bladder exstrophy, Re... |
OMIM:301068 |
White-Kernohan Syndrome |
|
Hydroureter, Horseshoe kidney, Hydronephrosis |
OMIM:619426 |
Cornelia De Lange Syndrome |
|
Hypoplasia of penis, Hypospadias, Multicystic kidney dysplasia, Renal insufficiency, Vesicoureter... |
ORPHA:199 |
Occipital Horn Syndrome |
|
Bladder diverticulum, Ureteral obstruction, Hydronephrosis |
OMIM:304150 |
Poland Syndrome |
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Renal hypoplasia/aplasia, Ureterocele, Hypospadias, Duplicated collecting system, Renal hypoplasi... |
ORPHA:2911 |
Genitopatellar Syndrome |
|
Multicystic kidney dysplasia, Hydronephrosis, Micropenis |
OMIM:606170 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
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Hypospadias, Hydroureter, Neonatal death, Dilatation of the renal pelvis, Hydronephrosis, Dilatat... |
OMIM:265380 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Unilateral renal agenesis, Hydroureter, Bilateral renal agenesis |
OMIM:619194 |
Roberts-Sc Phocomelia Syndrome |
|
Hypospadias, Long penis, Polycystic kidney dysplasia, Horseshoe kidney, Stillbirth |
OMIM:268300 |
Frontometaphyseal Dysplasia |
|
Ureteral obstruction, Urethral stenosis, Hydronephrosis |
ORPHA:1826 |
Branchiooculofacial Syndrome |
|
Renal agenesis, Hypospadias, Renal cyst |
OMIM:113620 |
Ulbright-Hodes Syndrome |
|
Abnormal penis morphology, Polycystic kidney dysplasia, Renal hypoplasia |
ORPHA:3404 |
Chand Syndrome |
|
Hydroureter |
ORPHA:1401 |
Early Infantile Epileptic Encephalopathy |
|
Renal dysplasia, Micropenis, Ureterocele |
ORPHA:1934 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Abnormality of the upper urinary tract, Hydroureter, Abnormality of the kidney, Abnormality of th... |
ORPHA:2636 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Chordee, Micropenis, Hypospadias, Multicystic kidney dysplasia, Renal duplication, Hydronephrosis... |
ORPHA:261537 |
Mowat-Wilson Syndrome |
|
Chordee, Micropenis, Hypospadias, Abnormality of the kidney, Multicystic kidney dysplasia, Renal ... |
ORPHA:2152 |
Restrictive Dermopathy 1 |
|
Hypospadias, Stillbirth, Ureteral duplication, Neonatal death |
OMIM:275210 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Chordee, Micropenis, Hypospadias, Multicystic kidney dysplasia, Renal duplication, Hydronephrosis... |
ORPHA:261552 |
Heterotaxy, Visceral, 5, Autosomal |
|
Renal hypoplasia, Ureteral duplication, Ureteral stenosis |
OMIM:270100 |
Craniofacial Microsomia |
|
Renal agenesis, Multicystic kidney dysplasia, Ureteropelvic junction obstruction, Ectopic kidney,... |
OMIM:164210 |
Focal Dermal Hypoplasia |
|
Bifid ureter, Horseshoe kidney, Hydronephrosis, Ureteral duplication |
OMIM:305600 |
Coffin-Siris Syndrome 1 |
|
Hypospadias, Hydroureter, Renal hypoplasia, Ectopic kidney, Hydronephrosis |
OMIM:135900 |
Proboscis Lateralis |
|
Unilateral renal agenesis, Duplication of renal pelvis, Ureteral agenesis |
ORPHA:141099 |
Pallister-Killian Syndrome |
|
Hypospadias, Renal cyst, Stillbirth, Renal dysplasia |
OMIM:601803 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Abnormality of the upper urinary tract, Hydroureter, Abnormality of the kidney, Hydronephrosis |
ORPHA:2273 |
Sotos Syndrome |
|
Renal agenesis, Abnormality of the kidney, Hypospadias, Ureteral duplication, Ureteropelvic junct... |
ORPHA:821 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Glycosuria, Ureteral duplication |
OMIM:600001 |
Restrictive Dermopathy |
|
Hypospadias, Ureteral duplication |
ORPHA:1662 |
Peters-Plus Syndrome |
|
Hypospadias, Renal hypoplasia, Ureteral duplication, Hydronephrosis |
OMIM:261540 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Ureteral duplication |
ORPHA:2255 |
Pmm2-Cdg |
|
Abnormal renal tubule morphology, Nephrotic syndrome, Multiple renal cysts, Proteinuria |
ORPHA:79318 |
Microphthalmia, Syndromic 1 |
|
Hypospadias, Hydroureter, Renal hypoplasia/aplasia, Renal hypoplasia |
OMIM:309800 |