Ureter, Cancer Of |
|
Neoplasm of the ureter |
OMIM:191600 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Vesicoureteral reflux, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Cystic renal... |
OMIM:601331 |
Polycystic Kidney Disease 5 |
|
Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly, Hyperechogenic kidneys, Reduced... |
OMIM:617610 |
Polycystic Kidney Disease 7 |
|
Multiple renal cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal insuffic... |
OMIM:620056 |
RCAD (renal cysts and diabetes) |
|
Multiple renal cysts |
DECIPHER:47 |
Infundibulopelvic Dysgenesis |
|
Microscopic hematuria, Multicystic kidney dysplasia |
OMIM:600989 |
Nephronophthisis 20 |
|
Nephronophthisis, Vesicoureteral reflux, Renal cyst, Stage 5 chronic kidney disease, Renal insuff... |
OMIM:617271 |
Craniofacial Conodysplasia |
|
Hydrocephalus, Spinal cord compression |
ORPHA:85168 |
Renal Hypodysplasia/Aplasia 3 |
|
Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Renal dysplasia, Multicystic kidney dyspla... |
OMIM:617805 |
Lipedema |
|
Edema |
OMIM:614103 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl... |
OMIM:618270 |
Congenital Megacalycosis |
|
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... |
ORPHA:93109 |
Renal Caliceal Diverticuli-Deafness Syndrome |
|
Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Hydronephrosis, A... |
ORPHA:2838 |
Hanac Syndrome |
|
Hematuria, Multiple renal cysts, Renal insufficiency |
ORPHA:73229 |
Angioedema, Hereditary, 6 |
|
Angioedema, Facial edema, Edema of the dorsum of hands |
OMIM:619363 |
Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Renal cyst |
OMIM:615987 |
Humero-Radio-Ulnar Synostosis |
|
Abnormality of the upper urinary tract, Abnormality of the ureter |
ORPHA:3266 |
Immunodeficiency, Common Variable, 6 |
|
Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Mesangial Immune complex deposition, ... |
OMIM:613496 |
Polycystic Liver Disease 4 With Or Without Kidney Cysts |
|
Hepatic cysts, Renal cyst |
OMIM:617875 |
Polycystic Liver Disease 3 With Or Without Kidney Cysts |
|
Hepatic cysts, Renal cyst |
OMIM:617874 |
Nephronophthisis 16 |
|
Enlarged kidney, Nephronophthisis, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, R... |
OMIM:615382 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Hydroureter, Congenital megaureter, Renal hypoplasia, Ureteropelvic junction obstruction, Hydrone... |
OMIM:143400 |
Congenital Primary Megaureter |
|
Congenital megaureter, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithiasis... |
ORPHA:617 |
Ureterocele |
|
Ureterocele, Duplicated collecting system |
OMIM:191650 |
Ureter, Bifid Or Double |
|
Ureteral duplication |
OMIM:191550 |
Nephronophthisis 3 |
|
Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re... |
OMIM:604387 |
Hepatorenocardiac Degenerative Fibrosis |
|
Enlarged kidney, Tubular luminal dilatation, Renal cyst, Hepatosplenomegaly, Hyperechogenic kidne... |
OMIM:619902 |
Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Edema, Pulmonary edema, Elevated pulmonary artery pressure |
OMIM:178400 |
Focal Segmental Glomerulosclerosis 7 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal hypoplasia, Proteinuria, Stage 5 ch... |
OMIM:616002 |
Nephronophthisis 14 |
|
Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
Bardet-Biedl Syndrome 16 |
|
Renal cyst, Renal agenesis, Renal dysplasia, Stage 5 chronic kidney disease, Renal insufficiency |
OMIM:615993 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Enlarged kidney, Hepatomegaly, Splenomegaly |
OMIM:615285 |
Ring Chromosome 8 Syndrome |
|
Hydronephrosis, Abnormality of the ureter |
ORPHA:1450 |
Thymic-Renal-Anal-Lung Dysplasia |
|
Renal agenesis, Ureteral agenesis, Ureteral dysgenesis |
OMIM:274265 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:2091 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Neonatal death, Renal cyst |
OMIM:614870 |
Renal Dysplasia |
|
Enlarged kidney, Renal hypoplasia/aplasia, Abnormal nephron morphology, Urinary incontinence, Ure... |
ORPHA:93108 |
Nephronophthisis 2 |
|
Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Renal cortical microcyst... |
OMIM:602088 |
Aa Amyloidosis |
|
Abnormality of the kidney, Enlarged kidney, Acute kidney injury, Hepatomegaly, Nephrotic syndrome... |
ORPHA:85445 |
Vesicoureteral Reflux 2 |
|
Renal hypoplasia, Vesicoureteral reflux |
OMIM:610878 |
Vesicoureteral Reflux 3 |
|
Hydroureter, Recurrent urinary tract infections, Grade III vesicoureteral reflux, Ureteropelvic j... |
OMIM:613674 |
Medullary cystic kidney disease 2 |
|
Enuresis, Renal tubular atrophy, Multiple renal cysts, Renal corticomedullary cysts, Stage 5 chro... |
OMIM:603860 |
Renal Hypoplasia |
|
Abnormal renal tubule morphology, Unilateral renal agenesis, Recurrent urinary tract infections, ... |
ORPHA:93101 |
Lower Limb Malformation-Hypospadias Syndrome |
|
Hypospadias, Abnormality of the ureter |
ORPHA:2487 |
Lymphatic Malformation 11 |
|
Lymphedema, Pedal edema |
OMIM:619401 |
Indomethacin Embryofetopathy |
|
Abnormal renal tubule morphology, Nephropathy, Multicystic kidney dysplasia, Renal insufficiency |
ORPHA:1909 |
Cystic Hamartoma Of Lung And Kidney |
|
Multicystic kidney dysplasia |
ORPHA:2111 |
Thomas Syndrome |
|
Renal hypoplasia/aplasia, Multicystic kidney dysplasia |
ORPHA:3316 |
Renal Tubular Dysgenesis |
|
Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts, Nephropathy |
ORPHA:3033 |
Meckel Syndrome, Type 11 |
|
Polycystic kidney dysplasia |
OMIM:615397 |
Caudal Duplication Anomaly |
|
Ureteral duplication |
OMIM:607864 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Decreased glomerular filtration rate, Polycystic kidney dysplasia, Hepatic cysts, Stage 5 chronic... |
OMIM:618061 |
Meckel Syndrome, Type 9 |
|
Multicystic kidney dysplasia |
OMIM:614209 |
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Hydronephrosis, Hydroureter |
OMIM:264140 |
Interstitial Nephritis, Karyomegalic |
|
Nephronophthisis, Hematuria, Glycosuria, Proteinuria, Renal interstitial fibrosis, Stage 5 chroni... |
OMIM:614817 |
Meckel Syndrome, Type 8 |
|
Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys |
OMIM:613885 |
Urofacial Syndrome 1 |
|
Hydroureter, Urethral obstruction, Recurrent urinary tract infections, Enuresis, Hydronephrosis, ... |
OMIM:236730 |
Bardet-Biedl Syndrome 4 |
|
Abnormality of the kidney, Renal cyst |
OMIM:615982 |
Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Unilateral renal agenesis, Vesicoureteral reflux, Renal hypoplasia, Ureteropelvic junction obstru... |
OMIM:610805 |
Primary Hyperoxaluria Type 2 |
|
Recurrent urinary tract infections, Hyperoxaluria, Nephrolithiasis, Ureteral obstruction, Nephroc... |
ORPHA:93599 |
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Polycystic kidney dysplasia, Renal angiomyolipoma |
OMIM:600273 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged kidney, Enlarged polycystic ovaries |
ORPHA:90301 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Renal cyst |
OMIM:174050 |
Nphp3-Related Meckel-Like Syndrome |
|
Renal dysplasia, Multicystic kidney dysplasia |
ORPHA:3032 |
Lymphedema And Cerebral Arteriovenous Anomaly |
|
Lymphedema, Pulmonary arterial hypertension |
OMIM:152900 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Nephroblastoma, Enlarged kidney |
OMIM:618272 |
Autosomal Dominant Polycystic Kidney Disease |
|
Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis... |
ORPHA:730 |
Joubert Syndrome 16 |
|
Nephronophthisis, Renal cyst |
OMIM:614465 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Enlarged kidney, Hepatomegaly, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, Renal cy... |
OMIM:263200 |
Adenine Phosphoribosyltransferase Deficiency |
|
Hematuria, Nephrolithiasis, Urolithiasis, Oliguria, Renal insufficiency, 2,8-dihydroxyadenine cry... |
OMIM:614723 |
Familial Isolated Dilated Cardiomyopathy |
|
Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Edema, Dilated cardi... |
ORPHA:154 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Neonatal death, Ectopic kidney, Cystic renal dysplasia |
OMIM:613730 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Focal segmental glomerulosclerosis, Nephropathy, Renal cyst, Chronic kidney disease |
OMIM:617056 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Polycystic kidney dysplasia, Hepatic cysts |
OMIM:600666 |
Fanconi Anemia, Complementation Group O |
|
Stage 5 chronic kidney disease, Hydronephrosis, Neonatal death, Renal cyst |
OMIM:613390 |
Multicystic Dysplastic Kidney |
|
Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r... |
ORPHA:1851 |
Genitopalatocardiac Syndrome |
|
Hypospadias, Renal cyst |
OMIM:231060 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Renal tubular ... |
OMIM:613092 |
Renal Coloboma Syndrome |
|
Multicystic kidney dysplasia, Vesicoureteral reflux, Renal hypoplasia, Renal dysplasia, Renal ins... |
ORPHA:1475 |
Joubert Syndrome 20 |
|
Renal cyst |
OMIM:614970 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Abnormality of the ureter, Renal hypoplasia/aplasia, Hypospadias, Hypoplasia of penis |
ORPHA:1046 |
Nephronophthisis 9 |
|
Stage 5 chronic kidney disease, Polyuria, Renal cortical microcysts, Nephronophthisis |
OMIM:613824 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Stillbirth, Renal cyst, Renal hypoplasia, Ureteral agenesis, Neonatal death, Renal dysplasia |
OMIM:236500 |
Polysyndactyly With Cardiac Malformation |
|
Stillbirth, Hepatic cysts, Renal cyst |
OMIM:263630 |
Rhyns Syndrome |
|
Nephronophthisis, Multicystic kidney dysplasia |
ORPHA:140976 |
Hypouricemia, Renal, 1 |
|
Acute kidney injury, Renal tubular epithelial necrosis, Uric acid nephrolithiasis, Renal cortical... |
OMIM:220150 |
Nephronophthisis 4 |
|
Polyuria, Nephronophthisis, Tubulointerstitial fibrosis, Renal tubular atrophy, Stage 5 chronic k... |
OMIM:606966 |
Lymphatic Malformation 8 |
|
Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion, Nonimmune hydrops fetalis |
OMIM:618773 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Hematuria, Renal cyst, Renal insufficiency |
OMIM:611773 |
Isolated Polycystic Liver Disease |
|
Multiple renal cysts |
ORPHA:2924 |
Meckel Syndrome 13 |
|
Polycystic kidney dysplasia |
OMIM:617562 |
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:3270 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Renal cortical adenoma, Polycystic kidney dysplasia, Nephrolithiasis, Papillary renal cell carcin... |
OMIM:145001 |
Say Syndrome |
|
Cystic renal dysplasia, Proximal renal tubular acidosis |
OMIM:181180 |
Nephronophthisis 1 |
|
Polyuria, Nephronophthisis, Hyposthenuria, Tubular basement membrane disintegration, Tubulointers... |
OMIM:256100 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Polycystic kidney dysplasia, Renal insufficiency, Hepatic cysts |
OMIM:173900 |
Lymphatic Malformation 14 |
|
Lymphedema |
OMIM:620602 |
Lymphatic Malformation 2 |
|
Lymphedema |
OMIM:611944 |
Axial Osteomalacia |
|
Renal cyst |
OMIM:109130 |
Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Multiple renal cysts, Renal cyst |
OMIM:614883 |
Alagille Syndrome 2 |
|
Hematuria, Renal tubular acidosis, Renal cyst, Renal hypoplasia, Proteinuria, Renal insufficiency |
OMIM:610205 |
Birt-Hogg-Dube Syndrome 1 |
|
Renal neoplasm, Renal cell carcinoma, Renal cyst |
OMIM:135150 |
Prune Belly Syndrome |
|
Hydroureter, Renal insufficiency, Abnormality of the bladder, Recurrent urinary tract infections,... |
ORPHA:2970 |
Diaphanospondylodysostosis |
|
Enlarged kidney, Nephroblastomatosis, Nephrogenic rest, Horseshoe kidney, Cystic renal dysplasia |
OMIM:608022 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Renal hypoplasia/aplasia, Multiple renal cysts, Vesicoureteral reflux |
ORPHA:1166 |
Penoscrotal Transposition |
|
Penoscrotal transposition, Hypospadias, Abnormality of the ureter, Renal agenesis, Renal dysplasi... |
ORPHA:2842 |
Bardet-Biedl Syndrome 6 |
|
Hypospadias, Renal cyst |
OMIM:605231 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Enlarged kidney, Hepatomegaly, Cystic renal dysplasia |
OMIM:615415 |
Diaphanospondylodysostosis |
|
Multiple renal cysts |
ORPHA:66637 |
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Renal hypoplasia/aplasia, Hydroureter, Urogenital sinus anomaly, Hydronephrosis, Displacement of ... |
ORPHA:2973 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Enlarged kidney, Ureteral duplication, Hepatomegaly, Long-chain dicarboxylic aciduria, Polycystic... |
OMIM:608836 |
Mucopolysaccharidosis-Plus Syndrome |
|
Enlarged kidney, Hepatomegaly, Focal segmental glomerulosclerosis, Nephrotic syndrome, Nephritis,... |
OMIM:617303 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Enlarged kidney, Hydronephrosis, Urethral atresia |
OMIM:314390 |
Lymphatic Malformation 7 |
|
Pulmonary edema, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuchal translucenc... |
OMIM:617300 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Stillbirth, Renal tubular acidosis, Renal cyst, Renal hypoplasia, Neonatal death, Renal dysplasia... |
OMIM:614922 |
Bor Syndrome |
|
Renal hypoplasia/aplasia, Renal insufficiency, Vesicoureteral reflux, Ureteropelvic junction obst... |
ORPHA:107 |
Joubert Syndrome 7 |
|
Stage 5 chronic kidney disease, Nephronophthisis, Renal cyst |
OMIM:611560 |
Joubert Syndrome 18 |
|
Horseshoe kidney, Renal cyst |
OMIM:614815 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 |
|
Hydroureter, Fetal megacystis |
OMIM:249210 |
Denys-Drash Syndrome |
|
Enlarged kidney, Focal segmental glomerulosclerosis, Nephrotic syndrome, Diffuse mesangial sclero... |
OMIM:194080 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Enlarged kidney, Macroscopic hematuria, Proteinuria |
ORPHA:251004 |
Papillorenal Syndrome |
|
Hematuria, Horseshoe kidney, Vesicoureteral reflux, Mild proteinuria, Nephrolithiasis, Renal cyst... |
OMIM:120330 |
Nephrolithiasis, Calcium Oxalate, 1 |
|
Acute kidney injury, Hyperoxaluria, Ureteropelvic junction obstruction, Calcium oxalate nephrolit... |
OMIM:167030 |
Renal Hypoplasia, Bilateral |
|
Decreased glomerular filtration rate, Vesicoureteral reflux, Beta 2-microglobulinuria, Renal cyst... |
ORPHA:97362 |
Campomelia, Cumming Type |
|
Polycystic kidney dysplasia, Pancreatic cysts |
OMIM:211890 |
Bladder Exstrophy |
|
Epispadias, Hypoplasia of penis, Recurrent urinary tract infections, Vesicoureteral reflux, Abnor... |
ORPHA:93930 |
Joubert Syndrome 35 |
|
Recurrent urinary tract infections, Hydronephrosis, Multicystic kidney dysplasia, Renal fibrosis |
OMIM:618161 |
Glycogen Storage Disease Ia |
|
Enlarged kidney, Hepatomegaly, Decreased glomerular filtration rate, Nephrolithiasis, Focal segme... |
OMIM:232200 |
Atresia Of Urethra |
|
Hydroureter, Recurrent urinary tract infections, Dilatation of the bladder, Vesicoureteral reflux... |
ORPHA:105 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Recurrent urinary tract infections, Polycystic kidney dysplasia, Multiple renal cysts, Hepatic cy... |
OMIM:613095 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Polycystic kidney dysplasia |
OMIM:614859 |
Silver-Russell Syndrome 1 |
|
Hypospadias, Abnormality of the ureter, Urethral valve, Congenital posterior urethral valve, Neph... |
OMIM:180860 |
Senior-Loken Syndrome 3 |
|
Polyuria, Nephronophthisis, Enuresis, Stage 5 chronic kidney disease, Renal corticomedullary cysts |
OMIM:606995 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Enlarged kidney, Hepatomegaly, Polycystic kidney dysplasia, Ureteral atresia, Splenomegaly, Renal... |
OMIM:208540 |
Glycogen Storage Disease Ib |
|
Enlarged kidney, Hepatomegaly, Decreased glomerular filtration rate, Nephrolithiasis, Focal segme... |
OMIM:232220 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal salt wasting, Decreased glomerular filtration rate, Glomerular sclerosis, Tubulointerstitia... |
OMIM:174000 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Hydronephrosis, Hydroureter, Neonatal death, Fetal megacystis |
OMIM:619362 |
Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Vesicoureteral reflux, Hydroureter, Nephrolithiasis |
OMIM:617219 |
Bladder Exstrophy And Epispadias Complex |
|
Epispadias, Hydroureter, Unilateral renal agenesis, Bladder exstrophy, Horseshoe kidney |
OMIM:600057 |
Nephronophthisis-Like Nephropathy 1 |
|
Nephronophthisis, Tubular basement membrane disintegration, Renal tubular atrophy, Hyperechogenic... |
OMIM:613159 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Abnormality of the bladder, Hydroureter, Abnormality of the upper urinary tract, Hypoplasia of penis |
ORPHA:2547 |
Axial Mesodermal Dysplasia Spectrum |
|
Renal hypoplasia/aplasia, Renal cyst, Abnormality of the ureter, Hydronephrosis, Abnormal localiz... |
ORPHA:1834 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Bilateral renal agenesis, Ureteral atresia, Unilateral renal agenesis |
OMIM:618845 |
Caudal Regression Syndrome |
|
Ureteral duplication, Ectopic kidney, Vesicoureteral reflux, Abnormality of the ureter, Renal age... |
ORPHA:3027 |
Bardet-Biedl Syndrome 12 |
|
Hydronephrosis, Hydroureter, Cystic renal dysplasia |
OMIM:615989 |
Tyrosinemia, Type I |
|
Elevated urinary delta-aminolevulinic acid, Enlarged kidney, Hepatomegaly, Glomerular sclerosis, ... |
OMIM:276700 |
Renal Cysts And Diabetes Syndrome |
|
Abnormality of the kidney, Multiple glomerular cysts, Hypospadias, Unilateral renal agenesis, Abn... |
OMIM:137920 |
Trisomy X |
|
Renal hypoplasia/aplasia, Multicystic kidney dysplasia |
ORPHA:3375 |
Meckel Syndrome, Type 5 |
|
Renal cyst |
OMIM:611561 |
Familial Adenomatous Polyposis 4 |
|
Ovarian cyst, Renal cyst |
OMIM:617100 |
Lymphangiectasia, Pulmonary, Congenital |
|
Palpebral edema, Polyhydramnios, Chylothorax, Lymphedema, Pleural effusion, Ascites, Chylous asci... |
OMIM:265300 |
Igg4-Related Kidney Disease |
|
Urethritis, Acute kidney injury, Enlarged kidney, Renal interstitial immunoglobulin deposits, Hem... |
ORPHA:449395 |
Beckwith-Wiedemann Syndrome |
|
Enlarged kidney, Hepatomegaly, Renal cortical cysts, Vesicoureteral reflux, Nephrolithiasis, Neph... |
OMIM:130650 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Renal agenesis, Ureteral duplication, Horseshoe kidney, Ectopic kidney |
OMIM:602200 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Abnormality of the ureter |
ORPHA:1035 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Renal dysplasia, Polycystic kidney dysplasia, Enlarged kidney, Micropenis |
OMIM:613091 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Polycystic kidney dysplasia, ... |
OMIM:231680 |
Acrocephalopolydactylous Dysplasia |
|
Enlarged kidney, Hepatomegaly, Cystic renal dysplasia |
OMIM:200995 |
Kaposiform Lymphangiomatosis |
|
Enlarged kidney, Hepatosplenomegaly, Splenomegaly, Multiple renal cysts |
ORPHA:464329 |
Meckel Syndrome, Type 10 |
|
Micropenis, Hypospadias, Renal cyst |
OMIM:614175 |
Lymphoid Interstitial Pneumonia |
|
Enlarged kidney, Hepatomegaly |
ORPHA:79128 |
Coach Syndrome 1 |
|
Nephronophthisis, Unilateral renal agenesis, Renal cyst, Stage 5 chronic kidney disease, Multiple... |
OMIM:216360 |
Verheij Syndrome |
|
Renal agenesis, Renal hypoplasia, Renal cyst |
OMIM:615583 |
Bardet-Biedl Syndrome 17 |
|
Polyuria, Stage 5 chronic kidney disease, Micropenis, Renal cyst |
OMIM:615994 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Hydroureter, Hypercalciuria, Renal cyst, Ureteral stenosis, Nephrocalcinosis |
OMIM:615398 |
Intellectual Developmental Disorder, X-Linked 112 |
|
Ectopic kidney, Hypospadias, Horseshoe kidney, Enuresis nocturna, Vesicoureteral reflux, Enuresis... |
OMIM:301111 |
17Q12 Microdeletion Syndrome |
|
Ureterocele, Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Renal insufficiency |
ORPHA:261265 |
H Syndrome |
|
Abnormality of the kidney, Enlarged kidney, Hepatosplenomegaly, Micropenis |
ORPHA:168569 |
Nephronophthisis 11 |
|
Polyuria, Nephronophthisis, Tubular basement membrane disintegration, Renal tubular atrophy, Stag... |
OMIM:613550 |
Femoral-Facial Syndrome |
|
Polycystic kidney dysplasia, Abnormal localization of kidney, Renal hypoplasia/aplasia, Long penis |
ORPHA:1988 |
Endocrine-Cerebroosteodysplasia |
|
Enlarged kidney, Hyperechogenic kidneys, Hypospadias, Microphallus |
OMIM:612651 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Enlarged kidney, Nephrotic syndrome, Hepatosplenomegaly, Proteinuria, Heavy proteinuria, Urinary ... |
ORPHA:505248 |
Hyperparathyroidism, Transient Neonatal |
|
Enlarged kidney, Unilateral renal agenesis |
OMIM:618188 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hypospadias, Abnormality of the ureter |
ORPHA:2522 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Renal cyst, Reduced renal corticomedullary differentiation, Polycystic ovaries, Multicystic kidne... |
OMIM:277000 |
Urban-Rogers-Meyer Syndrome |
|
Abnormality of the ureter, Hypoplasia of penis |
ORPHA:3409 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Multicystic kidney dysplasia, Renal cyst |
ORPHA:2031 |
Cardiogenic Shock |
|
Congestive heart failure, Abnormal left ventricular function, Low-output congestive heart failure... |
ORPHA:97292 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Hydronephrosis, Hydroureter |
OMIM:618240 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Proximal tubulopathy, Renal cyst |
OMIM:602579 |
Trisomy 13 |
|
Hydronephrosis, Displacement of the urethral meatus, Multiple renal cysts, Abnormality of the ureter |
ORPHA:3378 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Renal cyst |
OMIM:614862 |
3-Methylglutaconic Aciduria Type 7 |
|
3-Methylglutaconic aciduria, Nephrocalcinosis, Renal insufficiency, Renal cyst |
ORPHA:445038 |
Alg9-Cdg |
|
Enlarged kidney, Hepatomegaly, Abnormal renal artery morphology, Ureteral hypoplasia, Hydronephro... |
ORPHA:79328 |
Hereditary Orotic Aciduria |
|
Orotic acid crystalluria, Oroticaciduria, Aminoaciduria, Abnormality of the ureter |
ORPHA:30 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Nephroblastoma, Enlarged kidney |
ORPHA:276280 |
Distal Renal Tubular Acidosis |
|
Low-molecular-weight proteinuria, Hypocitraturia, Decreased glomerular filtration rate, Renal pot... |
ORPHA:18 |
Branchiootorenal Syndrome 1 |
|
Renal steatosis, Abnormal renal collecting system morphology, Unilateral renal agenesis, Polycyst... |
OMIM:113650 |
Mucolipidosis Ii Alpha/Beta |
|
Enlarged kidney, Hepatomegaly, Mucopolysacchariduria, Splenomegaly, Cardiomegaly |
OMIM:252500 |
Amyloidosis, Finnish Type |
|
Nephrotic syndrome, Urolithiasis, Renal glomerular amyloid deposition, Stage 5 chronic kidney dis... |
OMIM:105120 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Enlarged kidney, Hepatomegaly, Tubulointerstitial fibrosis, Nephrolithiasis, Nephrocalcinosis, Pr... |
ORPHA:79259 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Polycystic kidney dysplasia, Renal hypoplasia, Hypospadias, Renal cyst |
OMIM:614091 |
Meckel Syndrome, Type 3 |
|
Multicystic kidney dysplasia |
OMIM:607361 |
Peutz-Jeghers Syndrome |
|
Renal cell carcinoma, Multiple renal cysts, Enlarged polycystic ovaries, Abnormality of the ureter |
ORPHA:2869 |
Caudal Duplication |
|
Renal hypoplasia/aplasia, Ureteral duplication, Abnormal penis morphology |
ORPHA:1756 |
Wolfram Syndrome, Mitochondrial Form |
|
Hydronephrosis, Hydroureter |
OMIM:598500 |
Meckel Syndrome, Type 2 |
|
Renal cyst |
OMIM:603194 |
Autosomal Recessive Polycystic Kidney Disease |
|
Acute kidney injury, Enlarged kidney, Polycystic kidney dysplasia, Recurrent urinary tract infect... |
ORPHA:731 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Polycystic ovaries, Renal hypoplasia/aplasia, Abnormality of the ureter |
ORPHA:1770 |
Meckel Syndrome, Type 6 |
|
Hepatic cysts, Aplasia of the bladder, Horseshoe kidney, Renal cyst |
OMIM:612284 |
Chromosome 17Q12 Deletion Syndrome |
|
Unilateral renal agenesis, Recurrent urinary tract infections, Renal cyst, Renal hypoplasia, Hydr... |
OMIM:614527 |
Fliedner-Zweier Syndrome |
|
Hydronephrosis, Multicystic kidney dysplasia, Unilateral renal agenesis |
OMIM:620511 |
Renal Agenesis |
|
Unilateral renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral renal agenesis, Renal age... |
ORPHA:411709 |
Aneurysm Of Sinus Of Valsalva |
|
Edema, Congestive heart failure, Aortic regurgitation, Heart murmur |
ORPHA:1054 |
Exstrophy-Epispadias Complex |
|
Penoscrotal transposition, Abnormality of the kidney, Epispadias, Urinary incontinence, Bifid pen... |
ORPHA:322 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Enlarged kidney, Bifid ureter, Nephroblastoma, Renal malrotation, Multicystic kidney dysplasia |
ORPHA:500095 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian dermoid cyst, Renal cyst |
ORPHA:480536 |
Trisomy 17P |
|
Hypoplasia of penis, Polycystic kidney dysplasia, Urethral valve, Hydronephrosis, Urethral stenosis |
ORPHA:261290 |
Odontochondrodysplasia 1 |
|
Polycystic kidney dysplasia, Nephronophthisis |
OMIM:184260 |
Beckwith-Wiedemann Syndrome |
|
Enlarged kidney, Ureteral duplication, Hepatomegaly, Congenital megaureter, Hypercalciuria, Vesic... |
ORPHA:116 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Megacystis, Hydroureter, Multicystic kidney dysplasia |
ORPHA:2241 |
Cloacal Exstrophy |
|
Renal hypoplasia/aplasia, Hydroureter, Ectopic kidney, Hypoplasia of penis, Vesicoureteral reflux... |
ORPHA:93929 |
Smith-Magenis Syndrome |
|
Abnormal localization of kidney, Renal hypoplasia/aplasia, Abnormality of the ureter |
ORPHA:819 |
Kleefstra Syndrome |
|
Hypospadias, Hypoplasia of penis, Vesicoureteral reflux, Renal cyst, Hydronephrosis, Micropenis, ... |
ORPHA:261494 |
Mody |
|
Glycosuria, Abnormality of the kidney, Nephropathy, Renal cyst |
ORPHA:552 |
Meckel Syndrome, Type 4 |
|
Renal cyst |
OMIM:611134 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Megacystis, Hydronephrosis, Hydroureter |
OMIM:619431 |
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Fetal megacystis, Multicystic kidney dysplasia |
ORPHA:73246 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Multicystic kidney dysplasia, Multiple renal cysts |
ORPHA:1318 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Acute kidney injury, Glomerulopathy, Hypospadias, Renal insufficiency, Renal cell carcinoma, Rena... |
ORPHA:93111 |
Vacterl/Vater Association |
|
Ectopic kidney, Hypospadias, Hypoplasia of penis, Renal agenesis, Hydronephrosis, Multicystic kid... |
ORPHA:887 |
Distal Triplication 15Q |
|
Abnormality of the kidney, Polycystic kidney dysplasia, Hydronephrosis, Nephroblastoma, Dilatatio... |
ORPHA:314588 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Enlarged kidney |
OMIM:261740 |
Ventriculomegaly With Cystic Kidney Disease |
|
Renal insufficiency, Tubular luminal dilatation, Renal corticomedullary cysts, Hyperechogenic kid... |
OMIM:219730 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Renal tubular epithelial necrosis, Myoglobinuria, Polycystic kidney dysplasia, Red-brown urine, T... |
ORPHA:157 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Renal tubular epithelial necrosis, Hydroureter, Duplicated collecting system, Abnormality of the ... |
ORPHA:79404 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Renal cyst |
ORPHA:79303 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Polycystic kidney dysplasia |
OMIM:263210 |
Braddock-Carey Syndrome 1 |
|
Multicystic kidney dysplasia |
OMIM:619980 |
Meacham Syndrome |
|
Enlarged kidney, Horseshoe kidney |
OMIM:608978 |
Aredyld Syndrome |
|
Abnormality of the ureter |
ORPHA:1133 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Horseshoe kidney, Renal cyst |
ORPHA:166035 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Renal agenesis, Increased urine alpha-ketoglutarate concentration, Cystic renal dysplasia |
OMIM:220500 |
Trisomy 1Q |
|
Hydronephrosis, Multicystic kidney dysplasia, Congenital megaureter |
ORPHA:261344 |
Prune Belly Syndrome |
|
Hydronephrosis, Hydroureter, Congenital posterior urethral valve |
OMIM:100100 |
Penile Agenesis |
|
Hydroureter, Abnormality of the bladder, Bilateral renal agenesis, Absent penis, Hydronephrosis, ... |
ORPHA:49 |
Nabais Sa-De Vries Syndrome, Type 2 |
|
Multicystic kidney dysplasia |
OMIM:618829 |
Deafness, Unilateral, With Delayed Endolymphatic Hydrops |
|
Edema |
OMIM:612097 |
Pallister-Hall Syndrome |
|
Hydroureter, Ectopic kidney, Renal cyst, Distal urethral duplication, Renal hypoplasia, Hydroneph... |
OMIM:146510 |
Helsmoortel-Van Der Aa Syndrome |
|
Enuresis nocturna, Recurrent urinary tract infections, Enlarged kidney |
OMIM:615873 |
Heterotaxy, Visceral, 1, X-Linked |
|
Enlarged kidney, Hepatomegaly, Renal agenesis, Cardiomegaly, Horseshoe kidney |
OMIM:306955 |
Harrod Syndrome |
|
Multicystic kidney dysplasia, Hypospadias |
ORPHA:2115 |
Ogden Syndrome |
|
Cardiomegaly, Polycystic kidney dysplasia, Enlarged kidney, Global glomerulosclerosis |
OMIM:300855 |
Congenital Disorder Of Glycosylation, Type Il |
|
Polycystic kidney dysplasia |
OMIM:608776 |
Immunodeficiency 96 |
|
Multicystic kidney dysplasia |
OMIM:619774 |
Meckel Syndrome, Type 7 |
|
Pancreatic cysts, Stage 5 chronic kidney disease, Multicystic kidney dysplasia, Multiple glomerul... |
OMIM:267010 |
Trisomy 20P |
|
Abnormality of the kidney, Hypospadias, Abnormality of the ureter, Hydronephrosis, Multiple renal... |
ORPHA:261318 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypocalciuria, Parathormone-independent increased renal tubular calcium reabsorption, Nephrolithi... |
OMIM:600740 |
Leprechaunism |
|
Enlarged kidney, Hepatomegaly, Long penis, Hypercalciuria, Nephrocalcinosis, Enlarged ovaries |
ORPHA:508 |
Cystic Echinococcosis |
|
Membranous nephropathy, Ovarian cyst, Hepatic cysts, Renal cyst |
ORPHA:400 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Unilateral renal agenesis, Polycystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Re... |
ORPHA:2237 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Renal cyst |
OMIM:615560 |
Peroxisome Biogenesis Disorder 1B |
|
Hyperoxaluria, Renal cyst |
OMIM:601539 |
Marden-Walker Syndrome |
|
Epispadias, Abnormality of the kidney, Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Abnorm... |
ORPHA:2461 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Hematuria, Aplasia of the bladder, Ureterocele, Hydronephrosis, Renal duplication, Urethral stric... |
ORPHA:79403 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Renal tubular epithelial necrosis, Dicarboxylic aciduria, Myoglobinuria, Polycystic kidney dyspla... |
ORPHA:228308 |
Joubert Syndrome 14 |
|
Renal cyst |
OMIM:614424 |
Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Vesicoureteral reflux, Renal cyst, Renal hypoplasia, Hydronephrosis |
OMIM:618460 |
Transketolase Deficiency |
|
Renal cyst, Increased level of ribose in urine |
ORPHA:488618 |
Radio-Renal Syndrome |
|
Renal dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Multicystic kidney dysplasia |
ORPHA:3015 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Hypospadias, Multicystic kidney dysplasia, Renal cyst, Nephroblastoma, Micropenis |
OMIM:257300 |
Arima Syndrome |
|
Polyuria, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, ... |
OMIM:243910 |
Branchio-Oculo-Facial Syndrome |
|
Renal agenesis, Hydronephrosis, Multicystic kidney dysplasia |
ORPHA:1297 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Horseshoe kidney, Renal cyst |
OMIM:250410 |
Joubert Syndrome 2 |
|
Nephronophthisis, Renal insufficiency, Renal cyst |
OMIM:608091 |
Mosaic Trisomy 1 |
|
Renal cortical cysts, Penile hypospadias, Micropenis, Renal cyst |
ORPHA:1692 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Hypospadias, Abnormality of the ureter |
ORPHA:2311 |
Mckusick-Kaufman Syndrome |
|
Renal hypoplasia/aplasia, Glandular hypospadias, Urogenital sinus anomaly, Hydronephrosis, Urethr... |
ORPHA:2473 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Glutaric aciduria, Polycystic kidney dysplasia, Ethylmalonic aciduria, 3-Methylglutaric aciduria,... |
ORPHA:26791 |
Alagille Syndrome |
|
Nephrotic syndrome, Renal hypoplasia/aplasia, Abnormality of the ureter |
ORPHA:52 |
Senior-Boichis Syndrome |
|
Tubular luminal dilatation, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidneys, Red... |
ORPHA:84081 |
Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Hypospadias |
ORPHA:2075 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Congenital megaureter, Hypercalciuria, Renal cyst, Nephrocalcinosis, Renal dysplasia, Abnormality... |
ORPHA:369837 |
Mckusick-Kaufman Syndrome |
|
Polycystic kidney dysplasia, Hydronephrosis, Hydroureter, Vesicovaginal fistula |
OMIM:236700 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Hypercalciuria, Renal hamartoma, Nephrolithiasis, Renal cyst, Nephrocalcinosis, Nephroblastoma, R... |
ORPHA:99880 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Pancreatic cysts, Renal cyst, Nephritis, Proteinuria, Chronic kidney disease, Renal insufficiency |
OMIM:208500 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Renal hypoplasia, Bilateral renal agenesis, Ureteral agenesis, Hyperechogenic kidneys |
OMIM:617914 |
Nephrogenic Diabetes Insipidus |
|
Hydroureter, Hyposthenuria, Enuresis nocturna, Functional abnormality of the bladder, Renal insuf... |
ORPHA:223 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Nephrotic syndrome, Proximal tubulopathy, Proteinuria, Renal cyst |
OMIM:212065 |
Toriello-Lacassie-Droste Syndrome |
|
Epispadias, Hypospadias, Abnormality of the bladder, Abnormality of the ureter, Abnormal penis mo... |
ORPHA:3339 |
Zellweger Syndrome |
|
Hydronephrosis, Multicystic kidney dysplasia, Hypospadias |
ORPHA:912 |
Thauvin-Robinet-Faivre Syndrome |
|
Renal cyst, Bifid ureter, Renal dysplasia, Renal malrotation, Nephroblastoma |
OMIM:617107 |
Baller-Gerold Syndrome |
|
Vesicoureteral reflux, Abnormal localization of kidney, Hydronephrosis, Abnormality of the ureter |
ORPHA:1225 |
Parathyroid Carcinoma |
|
Hypercalciuria, Renal hamartoma, Nephrolithiasis, Renal cyst, Nephrocalcinosis, Nephroblastoma, R... |
ORPHA:143 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Vesicoureteral reflux, Renal cyst, Microphallus, Renal hypoplasia, Hydronephrosis |
OMIM:618454 |
Cornelia De Lange Syndrome 1 |
|
Ectopic kidney, Hypospadias, Abnormal renal morphology, Vesicoureteral reflux, Renal cyst, Renal ... |
OMIM:122470 |
Von Hippel-Lindau Syndrome |
|
Epididymal cyst, Pancreatic cysts, Renal cell carcinoma, Multiple renal cysts |
OMIM:193300 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Polycystic kidney dysplasia, Hyperechogenic kidneys |
OMIM:617866 |
Joubert Syndrome 39 |
|
Polycystic kidney dysplasia |
OMIM:619562 |
Diabetic Embryopathy |
|
Renal hypoplasia/aplasia, Ureteral duplication, Micropenis, Hydronephrosis |
ORPHA:1926 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Stillbirth, Renal hypoplasia, Renal cyst |
OMIM:616300 |
2Q37 Microdeletion Syndrome |
|
Nephroblastoma, Multicystic kidney dysplasia |
ORPHA:1001 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Polycystic kidney dysplasia, Aminoaciduria |
OMIM:214110 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Renal dysplasia, Renal cyst |
OMIM:617260 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Glomerular sclerosis, Aplasia of the bladder, Ureterocele, Hydronephrosis, Renal duplication, Ren... |
ORPHA:158684 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Unilateral renal agenesis, Hypospadias, Pelvic kidney, Renal cyst, Hydronephrosis, Micropenis |
ORPHA:464311 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Polycystic kidney dysplasia, Renal cortical microcysts, Hypospadias, Renal cyst |
OMIM:614866 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Polycystic kidney dysplasia, Pancreatic cysts, Renal cyst |
OMIM:610199 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Hydronephrosis, Multiple renal cysts, Renal dysplasia, Horseshoe kidney |
ORPHA:99776 |
Cardiac-Urogenital Syndrome |
|
Penoscrotal hypospadias, Enlarged kidney, Micropenis, Patent urachus |
OMIM:618280 |
Neuromuscular Oculoauditory Syndrome |
|
Reduced renal corticomedullary differentiation, Multiple renal cysts |
OMIM:618733 |
Joubert Syndrome 1 |
|
Nephropathy, Renal cyst |
OMIM:213300 |
Ellis Van Creveld Syndrome |
|
Epispadias, Abnormality of the kidney, Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Abnorm... |
ORPHA:289 |
Fraser Syndrome 3 |
|
Stillbirth, Hypoplasia of penis, Bilateral renal agenesis, Ureteral agenesis, Hypoplasia of the b... |
OMIM:617667 |
Fryns Syndrome |
|
Hydronephrosis, Multicystic kidney dysplasia, Hypospadias, Vesicoureteral reflux |
ORPHA:2059 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Acute kidney injury, Ureteral duplication, Nephronophthisis, Renal cyst, Reduced renal corticomed... |
OMIM:266920 |
Phelan-Mcdermid Syndrome |
|
Abnormality of the kidney, Vesicoureteral reflux, Polycystic kidney dysplasia |
OMIM:606232 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Abnormality of the ureter |
ORPHA:3253 |
Alveolar Echinococcosis |
|
Hepatic cysts, Abnormal bladder morphology, Pancreatic cysts, Renal cyst |
ORPHA:284 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Renal insufficiency, Renal cyst |
OMIM:617478 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Unilateral renal agenesis, Hypospadias, Pelvic kidney, Renal cyst, Hydronephrosis, Micropenis |
ORPHA:464306 |
Tuberous Sclerosis Complex |
|
Abnormality of the kidney, Polycystic kidney dysplasia, Renal cell carcinoma, Renal cyst, Chronic... |
ORPHA:805 |
Epidermal Nevus Syndrome |
|
Polycystic kidney dysplasia |
ORPHA:35125 |
Dextrocardia |
|
Abnormal renal morphology, Abnormality of the ureter |
ORPHA:1666 |
15q26 overgrowth syndrome |
|
Abnormality of the kidney, Polycystic kidney dysplasia, Vesicoureteral reflux, Renal agenesis, Hy... |
DECIPHER:81 |
Stankiewicz-Isidor Syndrome |
|
Ureteral duplication, Micropenis, Hypospadias |
OMIM:617516 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Enlarged kidney, Hepatomegaly, Hypospadias, Renal cyst, Hydronephrosis, Splenomegaly, Right ventr... |
OMIM:312870 |
Meckel Syndrome 12 |
|
Ureteral hypoplasia, Bilateral renal agenesis, Renal hypoplasia |
OMIM:616258 |
Attenuated Familial Adenomatous Polyposis |
|
Multiple renal cysts |
ORPHA:220460 |
Tuberous Sclerosis 1 |
|
Renal cell carcinoma, Renal angiomyolipoma, Renal cyst |
OMIM:191100 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:261197 |
Tuberous Sclerosis 2 |
|
Absence of renal corticomedullary differentiation, Renal cell carcinoma, Renal angiomyolipoma, Re... |
OMIM:613254 |
Genitopatellar Syndrome |
|
Hydronephrosis, Multicystic kidney dysplasia |
ORPHA:85201 |
Fryns Syndrome |
|
Stillbirth, Ureteral duplication, Hypospadias, Renal cyst, Renal agenesis, Hydronephrosis |
OMIM:229850 |
Czeizel-Losonci Syndrome |
|
Ureteral agenesis, Abnormality of the urinary system, Hydronephrosis, Congenital megaureter |
ORPHA:2437 |
2P15P16.1 Microdeletion Syndrome |
|
Hydronephrosis, Multicystic kidney dysplasia |
ORPHA:261349 |
Noonan Syndrome 9 |
|
Hydroureter |
OMIM:616559 |
Atelosteogenesis Type I |
|
Multiple renal cysts |
ORPHA:1190 |
Joubert Syndrome With Hepatic Defect |
|
Nephropathy, Multicystic kidney dysplasia, Renal insufficiency |
ORPHA:1454 |
Tetraamelia-Multiple Malformations Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:3301 |
Wolfram Syndrome 1 |
|
Neurogenic bladder, Hydronephrosis, Hydroureter |
OMIM:222300 |
Proteus Syndrome |
|
Enlarged kidney, Long penis, Enlarged polycystic ovaries, Renal cyst, Splenomegaly |
ORPHA:744 |
Microgastria-Limb Reduction Defect Syndrome |
|
Renal hypoplasia/aplasia, Renal agenesis, Crossed fused renal ectopia, Renal dysplasia, Multicyst... |
ORPHA:2538 |
Congenital Disorder Of Glycosylation, Type If |
|
Renal cortical cysts |
OMIM:609180 |
Mandibulofacial Dysostosis With Alopecia |
|
Hydroureter |
OMIM:616367 |
Peutz-Jeghers Syndrome |
|
Bladder polyp, Ovarian cyst, Abnormality of the ureter |
OMIM:175200 |
Mpdu1-Cdg |
|
Renal cortical cysts |
ORPHA:79323 |
Codas Syndrome |
|
Hydroureter |
ORPHA:1458 |
Focal Dermal Hypoplasia |
|
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Horseshoe kidney, Hydronephrosis |
ORPHA:2092 |
Joubert Syndrome 5 |
|
Nephronophthisis, Renal cortical cysts, Impaired renal concentrating ability, Reduced renal corti... |
OMIM:610188 |
Koolen-De Vries Syndrome |
|
Ureteral duplication, Hypospadias, Vesicoureteral reflux, Renal duplication, Hydronephrosis |
ORPHA:96169 |
Acrorenal-Mandibular Syndrome |
|
Renal agenesis, Polycystic kidney dysplasia, Aplasia of the bladder, Abnormality of the ureter |
OMIM:200980 |
Familial Visceral Myopathy |
|
Megacystis, Vesicoureteral reflux, Hydroureter |
ORPHA:2604 |
D-Bifunctional Protein Deficiency |
|
Renal cyst |
OMIM:261515 |
Short-Rib Thoracic Dysplasia 12 |
|
Renal hypoplasia, Neonatal death, Cystic renal dysplasia |
OMIM:269860 |
Smith-Lemli-Opitz Syndrome |
|
Penoscrotal hypospadias, Unilateral renal agenesis, Hypospadias, Duplicated collecting system, Re... |
OMIM:270400 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Ureteral duplication, Renal duplication |
OMIM:270420 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Ureteral duplication, Vesicoureteral reflux, Ureteral hypoplasia, Hydronephrosis, Renal dysplasia... |
OMIM:614080 |
Vici Syndrome |
|
Ureteral atresia, Renal tubular acidosis |
ORPHA:1493 |
Hajdu-Cheney Syndrome |
|
Polycystic kidney dysplasia, Hypospadias, Renal cyst |
OMIM:102500 |
Floating-Harbor Syndrome |
|
Hypospadias, Polycystic kidney dysplasia, Renal cyst, Renal agenesis, Nephrocalcinosis, Hydroneph... |
ORPHA:2044 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Vesicoureteral reflux, Hypospadias, Renal cyst |
OMIM:616975 |
Diphallia |
|
Penoscrotal transposition, Epispadias, Ureteral duplication, Bifid penis, Hypospadias, Distal ure... |
ORPHA:227 |
Meckel Syndrome 14 |
|
Polycystic kidney dysplasia |
OMIM:619879 |
Joubert Syndrome 21 |
|
Hyperechogenic kidneys, Renal cyst |
OMIM:615636 |
Schinzel-Giedion Syndrome |
|
Hypospadias, Nephrolithiasis, Renal cyst, Abnormality of the ureter, Hydronephrosis, Nephroblasto... |
ORPHA:798 |
Lymphangioleiomyomatosis |
|
Renal neoplasm, Hematuria, Multiple renal cysts, Abnormal urinary color, Renal angiomyolipoma |
ORPHA:538 |
Schwartz-Jampel Syndrome |
|
Abnormality of the urinary system, Nephrolithiasis, Abnormality of the ureter |
ORPHA:800 |
Fraser Syndrome 2 |
|
Unilateral renal agenesis, Bilateral renal agenesis, Aplasia of the bladder, Renal agenesis, Rena... |
OMIM:617666 |
Microphthalmia, Lenz Type |
|
Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Hydronephrosis |
ORPHA:568 |
Histiocytoid Cardiomyopathy |
|
Polycystic ovaries, Renal cyst |
ORPHA:137675 |
Noonan Syndrome 4 |
|
Ureteral duplication, Hydronephrosis |
OMIM:610733 |
Distal Deletion 12Q |
|
Ectopic kidney, Polycystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Micropenis |
ORPHA:96149 |
Simpson-Golabi-Behmel Syndrome |
|
Ureteral duplication, Hydroureter, Hypospadias, Hypoplasia of penis, Hydronephrosis, Nephroblasto... |
ORPHA:373 |
Alagille Syndrome 1 |
|
Duplicated collecting system, Renal tubular acidosis, Vesicoureteral reflux, Renal artery stenosi... |
OMIM:118450 |
Orofaciodigital Syndrome I |
|
Polycystic kidney dysplasia, Ovarian cyst, Proteinuria, Hepatic cysts, Pancreatic cysts |
OMIM:311200 |
Oculocerebrorenal Syndrome Of Lowe |
|
Abnormal renal tubule morphology, Glomerulopathy, Hematuria, Hypercalciuria, Nephrolithiasis, Nep... |
ORPHA:534 |
Caroli Disease |
|
Polycystic kidney dysplasia |
ORPHA:53035 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Polycystic kidney dysplasia, Micropenis |
OMIM:616546 |
Smith-Lemli-Opitz Syndrome |
|
Renal hypoplasia/aplasia, Hypospadias, Hypoplasia of penis, Hydronephrosis, Ureteropelvic junctio... |
ORPHA:818 |
Von Hippel-Lindau Disease |
|
Elevated urinary catecholamine level, Renal cell carcinoma, Multiple renal cysts, Epididymal cyst... |
ORPHA:892 |
Pearson Syndrome |
|
Renal cyst, Glycosuria, Proteinuria, Renal insufficiency, Lacticaciduria |
ORPHA:699 |
Cerebrocostomandibular Syndrome |
|
Horseshoe kidney, Ectopic kidney, Renal cyst |
OMIM:117650 |
Carpenter Syndrome 1 |
|
Hydronephrosis, Hydroureter |
OMIM:201000 |
Meckel Syndrome |
|
Pancreatic cysts, Ureteral duplication, Multicystic kidney dysplasia, Urethral atresia |
ORPHA:564 |
Orofaciodigital Syndrome Type 1 |
|
Multicystic kidney dysplasia, Renal insufficiency, Hydronephrosis, Proteinuria, Pancreatic cysts |
ORPHA:2750 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
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Hydroureter, Pelvic kidney, Vesicoureteral reflux, Hydronephrosis, Crossed fused renal ectopia, H... |
OMIM:300707 |
Cutis Marmorata Telangiectatica Congenita |
|
Displacement of the urethral meatus, Multicystic kidney dysplasia |
ORPHA:1556 |
Spondylocarpotarsal Synostosis Syndrome |
|
Renal cyst |
OMIM:272460 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hypospadias, Renal insufficiency, Uric acid nephrolithiasis, Urolithiasis, Hyperuricosuria |
OMIM:300661 |
Cranioectodermal Dysplasia 2 |
|
Renal insufficiency, Renal cyst |
OMIM:613610 |
Meckel Syndrome, Type 1 |
|
Polycystic kidney dysplasia, Abnormality of the ureter, Renal agenesis, Hypoplasia of the bladder... |
OMIM:249000 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Hydroureter, Duplicated collecting system, Vesicoureteral reflux, Ureterocele, Renal agenesis, Hy... |
OMIM:604292 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Stillbirth, Polycystic kidney dysplasia, Renal cyst, Renal hypoplasia, Micropenis |
OMIM:210710 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Renal cortical cysts, Vesicoureteral reflux |
OMIM:618548 |
Autosomal Recessive Robinow Syndrome |
|
Hydronephrosis, Multicystic kidney dysplasia, Hypoplasia of penis |
ORPHA:1507 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Polycystic kidney dysplasia, Micropenis |
OMIM:263520 |
Scalp-Ear-Nipple Syndrome |
|
Abnormality of the kidney, Ureteral duplication, Recurrent urinary tract infections, Duplication ... |
ORPHA:2036 |
Cerebrocostomandibular Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:1393 |
Mosaic Variegated Aneuploidy Syndrome |
|
Nephroblastoma, Multicystic kidney dysplasia |
ORPHA:1052 |
1P36 Deletion Syndrome |
|
Abnormality of the kidney, Hypospadias, Hypoplasia of penis, Renal cyst, Hydronephrosis |
ORPHA:1606 |
Oeis Complex |
|
Epispadias, Hydroureter, Duplicated collecting system, Vesicovaginal fistula, Pelvic kidney, Rena... |
OMIM:258040 |
Syndromic Diarrhea |
|
Polycystic kidney dysplasia, Renal hypoplasia |
ORPHA:84064 |
Distal Deletion 15Q |
|
Micropenis, Hypospadias, Multicystic kidney dysplasia, Abnormal localization of kidney |
ORPHA:1596 |
Osteopathia Striata With Cranial Sclerosis |
|
Multicystic kidney dysplasia |
OMIM:300373 |
Trisomy 10P |
|
Abnormality of the kidney, Multiple renal cysts |
ORPHA:171929 |
Caroli Syndrome |
|
Abnormality of the kidney, Polycystic kidney dysplasia |
ORPHA:480520 |
Bardet-Biedl Syndrome |
|
Hypoplasia of penis, Neurogenic bladder, Vesicoureteral reflux, Nephrotic syndrome, Hydronephrosi... |
ORPHA:110 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Hydronephrosis, Hydroureter, Abnormality of the upper urinary tract |
ORPHA:2995 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Hypospadias, Renal cyst |
ORPHA:495875 |
Robinow Syndrome |
|
Hydronephrosis, Micropenis, Multicystic kidney dysplasia, Webbed penis |
ORPHA:97360 |
Pagod Syndrome |
|
Renal hypoplasia/aplasia, Multicystic kidney dysplasia |
ORPHA:991 |
Hajdu-Cheney Syndrome |
|
Hypospadias, Multiple renal cysts |
ORPHA:955 |
22Q11.2 Deletion Syndrome |
|
Hypospadias, Polycystic kidney dysplasia, Vesicoureteral reflux, Renal hypoplasia, Multiple renal... |
ORPHA:567 |
Raine Syndrome |
|
Hydronephrosis, Hydroureter, Neonatal death |
OMIM:259775 |
Castleman Disease |
|
Hematuria, Ureteral obstruction, Renal insufficiency |
ORPHA:160 |
Williams Syndrome |
|
Hypoplasia of penis, Hypercalciuria, Recurrent urinary tract infections, Pelvic kidney, Abnormali... |
ORPHA:904 |
Jacobsen Syndrome |
|
Hydronephrosis, Multicystic kidney dysplasia |
ORPHA:2308 |
Roberts Syndrome |
|
Polycystic kidney dysplasia, Long penis |
ORPHA:3103 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Hydroureter, Duplicated collecting system, Vesicoureteral reflux, Ureterocele, Renal agenesis, Hy... |
OMIM:129900 |
Townes-Brocks Syndrome |
|
Abnormality of the kidney, Ectopic kidney, Hypospadias, Hypoplasia of penis, Vesicoureteral reflu... |
ORPHA:857 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Abnormal renal collecting system morphology, Hydroureter, Unilateral renal dysplasia, Congenital ... |
ORPHA:280633 |
Frontometaphyseal Dysplasia 1 |
|
Hydronephrosis, Hydroureter |
OMIM:305620 |
Congenital Tracheal Stenosis |
|
Abnormality of the kidney, Abnormality of the ureter |
ORPHA:141127 |
Cockayne Syndrome Type 3 |
|
Hydroureter, Unilateral renal agenesis, Neurogenic bladder, Renal hypoplasia, Hydronephrosis, Uri... |
ORPHA:90324 |
Tetrasomy 9P |
|
Recurrent urinary tract infections, Hydronephrosis, Multiple renal cysts, Renal dysplasia, Microp... |
ORPHA:3310 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Renal cyst, Renal hypoplasia, Urethrovaginal fistula, Hydronephrosis |
ORPHA:93271 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Hydronephrosis, Multicystic kidney dysplasia, Micropenis |
OMIM:615287 |
Peters Plus Syndrome |
|
Renal hypoplasia/aplasia, Ureteral duplication, Hypospadias, Hydronephrosis, Renal duplication, M... |
ORPHA:709 |
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome |
|
Duplication of renal pelvis, Ureteral duplication |
ORPHA:457212 |
Otopalatodigital Syndrome Type 2 |
|
Ureteral obstruction, Hydronephrosis, Hypospadias |
ORPHA:90652 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Hydroureter |
OMIM:610759 |
C Syndrome |
|
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Horseshoe kidney |
ORPHA:1308 |
Townes-Brocks Syndrome 1 |
|
Hypospadias, Renal insufficiency, Vesicoureteral reflux, Renal hypoplasia, Urethral valve, Renal ... |
OMIM:107480 |
Peroxisome Biogenesis Disorder 4B |
|
Ureterocele |
OMIM:614863 |
Fanconi Anemia |
|
Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Abnormal preputium morphology, Abnormality of... |
ORPHA:84 |
Thrombocytopenia-Absent Radius Syndrome |
|
Renal malrotation, Ureteral duplication, Vesicoureteral reflux, Axial malrotation of the kidney, ... |
OMIM:274000 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Hydroureter, Hypospadias, Ureteral stenosis, Hydronephrosis, Micropenis |
OMIM:269150 |
Cornelia De Lange Syndrome |
|
Hypospadias, Multicystic kidney dysplasia, Hypoplasia of penis, Vesicoureteral reflux, Renal insu... |
ORPHA:199 |
Femoral-Facial Syndrome |
|
Renal agenesis, Polycystic kidney dysplasia, Abnormal renal collecting system morphology, Micropenis |
OMIM:134780 |
White-Kernohan Syndrome |
|
Hydronephrosis, Hydroureter, Horseshoe kidney |
OMIM:619426 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Bilateral renal agenesis, Hydroureter, Unilateral renal agenesis |
OMIM:619194 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Unilateral renal agenesis, Hypospadias, Renal agenesis, Neonatal death, Renal dysplasia, Multicys... |
OMIM:308205 |
Hardikar Syndrome |
|
Hydroureter, Recurrent urinary tract infections, Vesicoureteral reflux, Hydronephrosis, Bladder e... |
OMIM:301068 |
Poland Syndrome |
|
Renal hypoplasia/aplasia, Hypospadias, Duplicated collecting system, Vesicoureteral reflux, Urete... |
ORPHA:2911 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Hydroureter, Hypospadias, Dilatation of the bladder, Hydronephrosis, Neonatal death, Dilatation o... |
OMIM:265380 |
Frontometaphyseal Dysplasia |
|
Ureteral obstruction, Hydronephrosis, Urethral stenosis |
ORPHA:1826 |
Occipital Horn Syndrome |
|
Ureteral obstruction, Hydronephrosis, Bladder diverticulum |
OMIM:304150 |
Branchiooculofacial Syndrome |
|
Renal agenesis, Hypospadias, Renal cyst |
OMIM:113620 |
Ulbright-Hodes Syndrome |
|
Polycystic kidney dysplasia, Abnormal penis morphology, Renal hypoplasia |
ORPHA:3404 |
Early Infantile Epileptic Encephalopathy |
|
Ureterocele, Renal dysplasia, Micropenis |
ORPHA:1934 |
Cardiac Valvular Dysplasia 1 |
|
Hydronephrosis, Hydroureter, Urethral diverticulum |
OMIM:212093 |
Intellectual Developmental Disorder, Autosomal Dominant 73 |
|
Hydroureter |
OMIM:620450 |
Heterotaxy, Visceral, 5, Autosomal |
|
Renal hypoplasia, Ureteral duplication, Ureteral stenosis |
OMIM:270100 |
Roberts-Sc Phocomelia Syndrome |
|
Stillbirth, Hypospadias, Long penis, Polycystic kidney dysplasia, Horseshoe kidney |
OMIM:268300 |
Genitopatellar Syndrome |
|
Hydronephrosis, Micropenis, Multicystic kidney dysplasia |
OMIM:606170 |
Chand Syndrome |
|
Hydroureter |
ORPHA:1401 |
Mowat-Wilson Syndrome |
|
Abnormality of the kidney, Urinary incontinence, Hypospadias, Multicystic kidney dysplasia, Pelvi... |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Urinary incontinence, Hypospadias, Multicystic kidney dysplasia, Pelvic kidney, Vesicoureteral re... |
ORPHA:261537 |
Restrictive Dermopathy 1 |
|
Stillbirth, Ureteral duplication, Hypospadias, Neonatal death |
OMIM:275210 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Hydronephrosis, A... |
ORPHA:2636 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Urinary incontinence, Hypospadias, Multicystic kidney dysplasia, Pelvic kidney, Vesicoureteral re... |
ORPHA:261552 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Ureterocele, Hypospadias |
OMIM:616734 |
Pallister-Killian Syndrome |
|
Renal dysplasia, Stillbirth, Hypospadias, Renal cyst |
OMIM:601803 |
Craniofacial Microsomia 1 |
|
Ectopic kidney, Vesicoureteral reflux, Renal agenesis, Ureteropelvic junction obstruction, Multic... |
OMIM:164210 |
Coffin-Siris Syndrome 1 |
|
Hydroureter, Ectopic kidney, Hypospadias, Renal hypoplasia, Hydronephrosis |
OMIM:135900 |
Proboscis Lateralis |
|
Duplication of renal pelvis, Ureteral agenesis, Unilateral renal agenesis |
ORPHA:141099 |
Focal Dermal Hypoplasia |
|
Bifid ureter, Ureteral duplication, Horseshoe kidney, Hydronephrosis |
OMIM:305600 |
Sotos Syndrome |
|
Abnormality of the kidney, Ureteral duplication, Hypospadias, Phimosis, Vesicoureteral reflux, Re... |
ORPHA:821 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Abnormality of the kidney, Hydronephrosis, Hydroureter, Abnormality of the upper urinary tract |
ORPHA:2273 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Glycosuria, Ureteral duplication |
OMIM:600001 |
Restrictive Dermopathy |
|
Ureteral duplication, Hypospadias |
ORPHA:1662 |
Peters-Plus Syndrome |
|
Renal hypoplasia, Ureteral duplication, Hypospadias, Hydronephrosis |
OMIM:261540 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Ureteral duplication |
ORPHA:2255 |
Pmm2-Cdg |
|
Nephrotic syndrome, Proteinuria, Multiple renal cysts, Abnormal renal tubule morphology |
ORPHA:79318 |
Microphthalmia, Syndromic 1 |
|
Renal hypoplasia, Renal hypoplasia/aplasia, Hydroureter, Hypospadias |
OMIM:309800 |