| Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... |
OMIM:617610 |
| Nephronophthisis 14 |
|
Situs inversus totalis, Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
| Nephronophthisis 16 |
|
Renal insufficiency, Situs inversus totalis, Stage 5 chronic kidney disease, Aortic valve stenosi... |
OMIM:615382 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Abnormality of t... |
OMIM:617805 |
| Polycystic Kidney Disease 7 |
|
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... |
OMIM:620056 |
| Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Hypogonadism, Renal cyst |
OMIM:615987 |
| Renal Dysplasia, Cystic, Susceptibility To |
|
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... |
OMIM:601331 |
| Meckel Syndrome, Type 8 |
|
Pericardial effusion, Polycystic kidney dysplasia, Ambiguous genitalia, Hyperechogenic kidneys, E... |
OMIM:613885 |
| RCAD (renal cysts and diabetes) |
|
Multiple renal cysts |
DECIPHER:47 |
| Genitopalatocardiac Syndrome |
|
Ventricular septal defect, Hypospadias, Renal cyst, Transposition of the great arteries, Gonadal ... |
OMIM:231060 |
| Bardet-Biedl Syndrome 16 |
|
Renal insufficiency, Renal agenesis, External genital hypoplasia, Stage 5 chronic kidney disease,... |
OMIM:615993 |
| Meckel Syndrome, Type 11 |
|
Polycystic kidney dysplasia |
OMIM:615397 |
| Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia, Mitral valve prolapse |
OMIM:173900 |
| Nephronophthisis 20 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... |
OMIM:617271 |
| Indomethacin Embryofetopathy |
|
Renal insufficiency, Multicystic kidney dysplasia, Ventricular septal defect, Cardiomyopathy, Atr... |
ORPHA:1909 |
| Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Dextrocardia, Situs invers... |
OMIM:613095 |
| Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... |
OMIM:618061 |
| Bardet-Biedl Syndrome 4 |
|
External genital hypoplasia, Abnormality of the kidney, Cryptorchidism, Renal cyst, Hypogonadism |
OMIM:615982 |
| Thomas Syndrome |
|
Multicystic kidney dysplasia, Hypoplastic left heart, Renal hypoplasia/aplasia |
ORPHA:3316 |
| Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
| Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Hepatomegaly, Polycystic kidney dysplasia |
OMIM:614859 |
| Meckel Syndrome, Type 9 |
|
Ambiguous genitalia, Multicystic kidney dysplasia |
OMIM:614209 |
| Hanac Syndrome |
|
Hematuria, Renal insufficiency, Multiple renal cysts |
ORPHA:73229 |
| Meckel Syndrome 13 |
|
Polycystic kidney dysplasia |
OMIM:617562 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa... |
OMIM:620135 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Absence of renal corticomedullary differentiation, Pancreatic ... |
OMIM:263200 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Hepatomegaly, Pericardial effusion, Hepatosplenomegaly, Abnormal cardiac septum morphology, Polyc... |
OMIM:608776 |
| Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
| Hyperparathyroidism 2 With Jaw Tumors |
|
Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Nephroblastoma, Ren... |
OMIM:145001 |
| Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Hepatic cysts, Polycystic kidney dysplasia |
OMIM:600666 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
| Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Renal angiomyolipoma, Polycystic kidney dysplasia |
OMIM:600273 |
| Distal Triplication 15Q |
|
Abnormal external genitalia, Abnormality of the kidney, Dilatation of the renal pelvis, Horseshoe... |
ORPHA:314588 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Renal insufficiency, Unilateral renal agenesis, Septate vagina, Uterus didelphys, Abnormal heart ... |
ORPHA:2237 |
| Fanconi Anemia, Complementation Group O |
|
External genital hypoplasia, Cryptorchidism, Stage 5 chronic kidney disease, Renal cyst, Abnormal... |
OMIM:613390 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Bicornuate uterus, Polycystic kidney dysplasia, Abnormal heart morphology |
OMIM:263210 |
| Renal Tubular Dysgenesis |
|
Tetralogy of Fallot, Proximal tubulopathy, Multiple renal cysts, Nephropathy, Renotubular dysgenesis |
ORPHA:3033 |
| Femoral-Facial Syndrome |
|
Renal hypoplasia/aplasia, Cryptorchidism, Long penis, Abnormal localization of kidney, Polycystic... |
ORPHA:1988 |
| Trisomy 17P |
|
Hypoplasia of penis, Urethral valve, Urethral stenosis, Hypoplastic left heart, Polycystic kidney... |
ORPHA:261290 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Renal cyst, Hepatosplenomegaly, Hypertrophic cardiomyopathy, Tubular luminal dilatation, Renal in... |
OMIM:619902 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Hepatomegaly, Ventricular septal defect, Ectopic kidney, Cryptorchidism, Cystic renal dysplasia |
OMIM:613730 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Red-brown urine, Renal tu... |
ORPHA:228308 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Hepatomegaly, Cryptorchidism, Abnormal heart morphology, Aminoaciduria, Polycystic kidney dysplas... |
OMIM:214110 |
| Campomelia, Cumming Type |
|
Pancreatic cysts, Polycystic kidney dysplasia |
OMIM:211890 |
| Diethylstilbestrol Syndrome |
|
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... |
ORPHA:1916 |
| Attrv30M Amyloidosis |
|
Nephropathy, Cardiomyopathy, Abnormal renal physiology, Cardiomegaly |
ORPHA:85447 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Renal insufficiency, Pancreatic cysts, Situs inversus totalis, Splenomegaly, Stage ... |
OMIM:208540 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Renal hypoplasia/aplasia, Cryptorchidism, Multiple renal cysts, Vesico... |
ORPHA:1166 |
| Bardet-Biedl Syndrome 6 |
|
Vaginal atresia, Hypospadias, External genital hypoplasia, Renal cyst |
OMIM:605231 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulo... |
OMIM:231680 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis,... |
ORPHA:157 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Renal insufficiency, Hepatomegaly, Long-chain dicarboxylic aciduria, Cardio... |
OMIM:608836 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Cardiomegaly |
OMIM:300886 |
| Prune Belly Syndrome |
|
Atrial septal defect, Renal insufficiency, Multicystic kidney dysplasia, Recurrent urinary tract ... |
ORPHA:2970 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Hepatomegaly, Renal cyst |
OMIM:614870 |
| Mckusick-Kaufman Syndrome |
|
Hydroureter, Cryptorchidism, Transverse vaginal septum, Hydrometrocolpos, Rectovaginal fistula, V... |
OMIM:236700 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Glutaric aciduria, Lacticaciduria, Abnormal heart morphology, Cardiomyopathy, 3-Met... |
ORPHA:26791 |
| Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis... |
OMIM:610205 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Polycystic kidney dysplasia, Hypospadias, Renal hypoplasia, Renal cyst |
OMIM:614091 |
| Joubert Syndrome 39 |
|
Hypoplastic left heart, Polycystic kidney dysplasia |
OMIM:619562 |
| Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:2091 |
| 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 |
| Medullary cystic kidney disease 2 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... |
OMIM:603860 |
| Odontochondrodysplasia 1 |
|
Polycystic kidney dysplasia, Nephronophthisis |
OMIM:184260 |
| Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
| Branchiootorenal Syndrome 1 |
|
Renal malrotation, Unilateral renal agenesis, Renal steatosis, Polycystic kidney dysplasia, Vesic... |
OMIM:113650 |
| Meckel Syndrome 14 |
|
Ambiguous genitalia, Aplasia of the uterus, Polycystic kidney dysplasia, Single ventricle |
OMIM:619879 |
| Nephronophthisis 9 |
|
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613824 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Hepatomegaly, Hypospadias, Ventricular septal defect, Splenomegaly, Cryptorchidism, Renal cyst, H... |
OMIM:614866 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Polycystic kidney dysplasia, Ambiguous genitalia, Micropenis, Renal dysplasia, Enlarged kidney |
OMIM:613091 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
| Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Renal cyst |
OMIM:174050 |
| Renal Cysts And Diabetes Syndrome |
|
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... |
OMIM:137920 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
| Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... |
OMIM:614817 |
| Isolated Polycystic Liver Disease |
|
Hepatomegaly, Multiple renal cysts |
ORPHA:2924 |
| Bardet-Biedl Syndrome 17 |
|
Polyuria, Dextrocardia, Situs inversus totalis, Stage 5 chronic kidney disease, Renal cyst, Hypog... |
OMIM:615994 |
| Polysyndactyly With Cardiac Malformation |
|
Atrial septal defect, Ventricular septal defect, Hepatic cysts, Renal cyst |
OMIM:263630 |
| Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Renal dysplasia |
ORPHA:3032 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic... |
ORPHA:730 |
| Cystic Hamartoma Of Lung And Kidney |
|
Multicystic kidney dysplasia |
ORPHA:2111 |
| 46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Abnormal internal genitalia, Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia,... |
ORPHA:2973 |
| Arima Syndrome |
|
Hepatomegaly, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedu... |
OMIM:243910 |
| Phelan-Mcdermid Syndrome |
|
Vesicoureteral reflux, Ventricular septal defect, Abnormality of the kidney, Polycystic kidney dy... |
OMIM:606232 |
| Floating-Harbor Syndrome |
|
Hypospadias, Renal agenesis, Precocious puberty, Cryptorchidism, Dilatation of the renal pelvis, ... |
ORPHA:2044 |
| Joubert Syndrome 16 |
|
Renal cyst, Nephronophthisis |
OMIM:614465 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Ambiguous genitalia, Ventricular septal defect, Polycystic kidney dysplasia, Atrial septal defect... |
OMIM:263520 |
| Joubert Syndrome 18 |
|
Ventricular septal defect, Renal cyst, Horseshoe kidney |
OMIM:614815 |
| Syndromic Diarrhea |
|
Hepatomegaly, Bicuspid aortic valve, Ventricular septal defect, Splenomegaly, Renal hypoplasia, A... |
ORPHA:84064 |
| Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Patent f... |
OMIM:618652 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
| Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Nephrotic syndrome, Splenomegaly, Cardiomegaly |
OMIM:269920 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Renal cyst |
OMIM:617056 |
| Rhyns Syndrome |
|
Multicystic kidney dysplasia, Nephronophthisis |
ORPHA:140976 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Atrial septal defect, Micropenis, Polycystic kidney dysplasia |
OMIM:616546 |
| Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Male pseudohermaphroditism, Abnormal c... |
ORPHA:2075 |
| Trisomy X |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:3375 |
| Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Hyperechogenic kidneys, Polycystic kidney dysplasia |
OMIM:617866 |
| Meckel Syndrome, Type 1 |
|
Hypoplasia of the bladder, Renal agenesis, External genital hypoplasia, Splenomegaly, Cryptorchid... |
OMIM:249000 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Pancreatic cysts, Splenomegaly, Renal cyst, Polycystic kidney dysplasia |
OMIM:610199 |
| Distal Deletion 12Q |
|
Unilateral cryptorchidism, Ectopic kidney, Congenital hypertrophy of left ventricle, Polycystic k... |
ORPHA:96149 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| Mckusick-Kaufman Syndrome |
|
Urethral stricture, Multicystic kidney dysplasia, Ventricular septal defect, Renal hypoplasia/apl... |
ORPHA:2473 |
| Acrorenal-Mandibular Syndrome |
|
Renal agenesis, Abnormality of the ureter, Uterus didelphys, Aplasia of the bladder, Bicornuate u... |
OMIM:200980 |
| Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney... |
OMIM:602088 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Hepatic cysts, Situs inversus totalis, Hypertrophic cardiomyopathy, Aortic valve st... |
OMIM:615415 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
| Vacterl/Vater Association |
|
Bifid scrotum, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ec... |
ORPHA:887 |
| Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:3270 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Cardiomegaly, Increa... |
OMIM:256550 |
| Joubert Syndrome 20 |
|
Renal cyst |
OMIM:614970 |
| Hajdu-Cheney Syndrome |
|
Ventricular septal defect, Hypospadias, Cryptorchidism, Renal cyst, Polycystic kidney dysplasia |
OMIM:102500 |
| Orofaciodigital Syndrome I |
|
Proteinuria, Pancreatic cysts, Abnormal heart morphology, Ovarian cyst, Polycystic kidney dysplas... |
OMIM:311200 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
| Bardet-Biedl Syndrome 12 |
|
Hydroureter, Hydrometrocolpos, Cystic renal dysplasia, Hypogonadism, Vaginal atresia, Hydronephrosis |
OMIM:615989 |
| Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly |
ORPHA:615 |
| Hemochromatosis, Type 1 |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Cardiomyopathy, Azoosper... |
OMIM:235200 |
| Ogden Syndrome |
|
Global glomerulosclerosis, Bicuspid aortic valve, Left atrial enlargement, Ventricular septal def... |
OMIM:300855 |
| 22Q11.2 Deletion Syndrome |
|
Atrial septal defect, Hypospadias, Ventricular septal defect, Abnormal pulmonary valve morphology... |
ORPHA:567 |
| Renal Hypoplasia, Bilateral |
|
Proteinuria, Cryptorchidism, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta... |
ORPHA:97362 |
| Transketolase Deficiency |
|
Increased level of ribose in urine, Hepatomegaly, Ventricular septal defect, Renal cyst, Abnormal... |
ORPHA:488618 |
| Femoral-Facial Syndrome |
|
Renal agenesis, Truncus arteriosus, Abnormal renal collecting system morphology, Ventricular sept... |
OMIM:134780 |
| Tuberous Sclerosis Complex |
|
Renal insufficiency, Abnormality of the kidney, Chronic kidney disease, Stage 5 chronic kidney di... |
ORPHA:805 |
| Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Myocardial fibrosis, Pericardial constriction, Nephroblastoma |
OMIM:253250 |
| Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal h... |
OMIM:252920 |
| Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Multiple renal cysts, Renal cyst |
OMIM:614883 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Cardiomyopathy, Endocardial fibroelastosis, Hy... |
OMIM:212140 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Overgrowth of external genitalia, Cardiomegaly, Cryptorchidism, Pancreatic hyperpla... |
OMIM:130650 |
| Epidermal Nevus Syndrome |
|
Polycystic kidney dysplasia |
ORPHA:35125 |
| Renal Coloboma Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... |
ORPHA:1475 |
| Familial Adenomatous Polyposis 4 |
|
Ovarian cyst, Uterine leiomyoma, Renal cyst |
OMIM:617100 |
| Von Hippel-Lindau Syndrome |
|
Pancreatic cysts, Papillary cystadenoma of the epididymis, Renal cell carcinoma, Multiple renal c... |
OMIM:193300 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Cardiomy... |
OMIM:614922 |
| Meckel Syndrome, Type 7 |
|
Multicystic kidney dysplasia, Multiple glomerular cysts, Pancreatic cysts, Situs inversus totalis... |
OMIM:267010 |
| Verheij Syndrome |
|
Ventricular septal defect, Renal agenesis, Renal hypoplasia, Renal cyst, Truncus arteriosus |
OMIM:615583 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Nephrocalcinosis, Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
| Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:858 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Left ventricular ... |
OMIM:300280 |
| Say Syndrome |
|
Proximal renal tubular acidosis, Cystic renal dysplasia |
OMIM:181180 |
| Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Hematuria, Renal insufficiency, Renal cyst |
OMIM:611773 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypospadias, Ventricular septal defect, Cardiomegaly, Micropenis, Hypertrophic cardiomyopathy, Hy... |
OMIM:616897 |
| Caroli Disease |
|
Splenomegaly, Hepatomegaly, Polycystic kidney dysplasia |
ORPHA:53035 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly |
OMIM:600649 |
| Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
| Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
| Trisomy 13 |
|
Ventricular septal defect, Cryptorchidism, Abnormality of the ureter, Multiple renal cysts, Atria... |
ORPHA:3378 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly, Oligosacchariduria |
ORPHA:3137 |
| Birt-Hogg-Dube Syndrome 1 |
|
Renal neoplasm, Renal cell carcinoma, Renal cyst |
OMIM:135150 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Recurrent urinary tract infections, Renal insufficiency, Pancreatic cysts, Splenomegaly, Oliguria... |
ORPHA:731 |
| Bardet-Biedl Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Nephrotic syndrome, Hypoplasia... |
ORPHA:110 |
| 15q26 overgrowth syndrome |
|
Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys... |
DECIPHER:81 |
| 17Q12 Microdeletion Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cryptorchidism, Uret... |
ORPHA:261265 |
| Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:256100 |
| Joubert Syndrome 7 |
|
Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis |
OMIM:611560 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly |
OMIM:619064 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Neoplasm of the heart, Cryptorchidism, Megacystis |
ORPHA:2241 |
| Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
| Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... |
OMIM:120330 |
| Axial Mesodermal Dysplasia Spectrum |
|
Renal hypoplasia/aplasia, Abnormality of the ureter, Renal cyst, Abnormal localization of kidney,... |
ORPHA:1834 |
| Meckel Syndrome, Type 10 |
|
Micropenis, Hypospadias, Renal cyst |
OMIM:614175 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, A... |
ORPHA:93111 |
| Penile Agenesis |
|
Ambiguous genitalia, Urethral atresia, male, Hydroureter, Ventricular septal defect, Cryptorchidi... |
ORPHA:49 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, Macroorchidism, ... |
ORPHA:324410 |
| Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... |
OMIM:606966 |
| Refsum Disease, Classic |
|
Cardiomyopathy, Abnormal renal physiology, Cardiomegaly |
OMIM:266500 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Renal tubular acidosis, Dicarboxylic aciduria, Cardiomegaly |
OMIM:255120 |
| Trisomy 1Q |
|
Multicystic kidney dysplasia, Small scrotum, Ventricular septal defect, Cryptorchidism, Congenita... |
ORPHA:261344 |
| Mosaic Trisomy 9 |
|
Renal dysplasia, Hypoplasia of penis, Ventricular septal defect, Dextrocardia, Abnormal heart val... |
ORPHA:99776 |
| Cystic Echinococcosis |
|
Hepatomegaly, Abnormality of the testis size, Renal cyst, Abnormal heart morphology, Ovarian cyst... |
ORPHA:400 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614702 |
| Diaphanospondylodysostosis |
|
Multiple renal cysts |
ORPHA:66637 |
| Joubert Syndrome 35 |
|
Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections |
OMIM:618161 |
| Coach Syndrome 1 |
|
Hepatomegaly, Unilateral renal agenesis, Splenomegaly, Multiple small medullary renal cysts, Stag... |
OMIM:216360 |
| Roberts Syndrome |
|
Cryptorchidism, Clitoral hypertrophy, Long penis, Polycystic kidney dysplasia |
ORPHA:3103 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Ventricular septal defect, Cryptorchidism, Muscular ventricular septal defect, Renal hypoplasia, ... |
OMIM:210710 |
| Attrv122I Amyloidosis |
|
Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ventricular hypertrophy, R... |
ORPHA:85451 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:619051 |
| Axial Osteomalacia |
|
Renal cyst |
OMIM:109130 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Renal insufficiency, Ventricular septal defect, Partial anomalous pulmonary venous return, Renal ... |
OMIM:617478 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Bifid scrotum, Multicystic kidney dysplasia, Ambiguous genitalia, Hypospadias, Nephroblastoma, Cr... |
OMIM:257300 |
| Meckel Syndrome, Type 4 |
|
Atrial septal defect, Ventricular septal defect, Renal cyst |
OMIM:611134 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Ureteral agenesis, Renal dysplasia, Renal hypoplasia, Renal cyst |
OMIM:236500 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... |
OMIM:306955 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly |
ORPHA:42 |
| Pagod Syndrome |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Situs inversus totalis, Agonadism, Hypopl... |
ORPHA:991 |
| Kleefstra Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Bicuspid aortic valve, Ventricular septal ... |
ORPHA:261494 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Cryptorchidism, Ventricular septal defect, Renal cyst, Horseshoe kidney |
ORPHA:166035 |
| Meckel Syndrome, Type 6 |
|
Abnormal internal genitalia, Renal cyst, Horseshoe kidney, Aplasia of the bladder, Hepatic cysts |
OMIM:612284 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Cardiomegaly, Nephrotic syndrome, Cardiomyopathy, Left ventricular hypertrophy |
OMIM:617713 |
| Braddock-Carey Syndrome 1 |
|
Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular septal defect |
OMIM:619980 |
| Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... |
ORPHA:2041 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Exercise-induced myoglobinuria, Hypertrophic c... |
OMIM:201475 |
| Von Hippel-Lindau Disease |
|
Elevated urinary catecholamine level, Pancreatic cysts, Myocarditis, Papillary cystadenoma of the... |
ORPHA:892 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatosplenomegaly, Hepatomegaly, Glomerulonephritis, Cardiomegaly |
ORPHA:99931 |
| Caroli Syndrome |
|
Hepatomegaly, Abnormality of the kidney, Polycystic kidney dysplasia |
ORPHA:480520 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Renal insufficiency, Renal cyst, Nephrocalcinosis, Cardiomyopathy, 3-Methylglutaconic aciduria |
ORPHA:445038 |
| Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Abnormal concentration of acylcarnitine in the urine, Abnormality of... |
ORPHA:391428 |
| Pseudo-Torch Syndrome 3 |
|
Acute kidney injury, Proteinuria, Cardiomegaly |
OMIM:618886 |
| Marden-Walker Syndrome |
|
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... |
ORPHA:2461 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Ureteral stenosis, Hydroureter, Hypercalciuria, Renal cyst, Nephrocalcinosis, Restrictive cardiom... |
OMIM:615398 |
| Cantu Syndrome |
|
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly |
OMIM:239850 |
| Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p... |
ORPHA:3427 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
| Timothy Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly |
OMIM:601005 |
| Chromosome 17Q12 Deletion Syndrome |
|
Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Unil... |
OMIM:614527 |
| Ulbright-Hodes Syndrome |
|
Abnormal penis morphology, Abnormal external genitalia, Enlarged labia minora, Cryptorchidism, Re... |
ORPHA:3404 |
| Bor Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu... |
ORPHA:107 |
| Genitopatellar Syndrome |
|
Multicystic kidney dysplasia, Small scrotum, Cryptorchidism, Atrial septal defect, Hydronephrosis... |
ORPHA:85201 |
| Zellweger Syndrome |
|
Hepatomegaly, Multicystic kidney dysplasia, Hypospadias, Ventricular septal defect, Cryptorchidis... |
ORPHA:912 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Proximal tubulopathy, Renal cyst |
OMIM:602579 |
| Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Hepatomegaly, Renal cyst |
OMIM:614862 |
| Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
| Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Ventricular septal defect, Renal agenesis, Atr... |
OMIM:220500 |
| Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Cryptorchidism, Multicystic kidney dysplasia, Fetal megacystis |
ORPHA:73246 |
| Peutz-Jeghers Syndrome |
|
Enlarged polycystic ovaries, Abnormality of the ureter, Renal cell carcinoma, Multiple renal cyst... |
ORPHA:2869 |
| Pallister-Hall Syndrome |
|
Renal dysplasia, Decreased testicular size, Hydroureter, Ventricular septal defect, Distal urethr... |
OMIM:146510 |
| Nabais Sa-De Vries Syndrome, Type 2 |
|
Multicystic kidney dysplasia, Hypoplastic left heart |
OMIM:618829 |
| Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian dermoid cyst, Uterine leiomyoma, Renal cyst |
ORPHA:480536 |
| Meckel Syndrome, Type 3 |
|
Hepatomegaly, Multicystic kidney dysplasia |
OMIM:607361 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Dextrocardia, Abnormal heart morphology, Abnormal aortic valve morp... |
ORPHA:261197 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatomegaly, Pericarditis, Proteinuria, Hypergonadotropic hypogonadism, Pericardial effusion, Re... |
OMIM:212065 |
| Harrod Syndrome |
|
Cryptorchidism, Multicystic kidney dysplasia, Hypospadias |
ORPHA:2115 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Precocious puberty, Hypercalciuria, Renal cyst, Abnormal heart morphology, Nephrocalcinosis, Abno... |
ORPHA:369837 |
| Roberts-Sc Phocomelia Syndrome |
|
Hypospadias, Ventricular septal defect, Enlarged labia minora, Cryptorchidism, Long penis, Horses... |
OMIM:268300 |
| Sickle Cell Disease |
|
Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Hematuria |
OMIM:603903 |
| Fryns Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Abnormal cardiac septum morphology, Bi... |
ORPHA:2059 |
| Mogs-Cdg |
|
Hepatomegaly, External genital hypoplasia, Cardiomegaly, Hepatosplenomegaly, Hydrocele testis, At... |
ORPHA:79330 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... |
OMIM:231005 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Small scrotum, Ventricular septal defect, Cryptorchidism, Renal hypoplasia, Renal cyst, Microphal... |
OMIM:618454 |
| Mosaic Trisomy 1 |
|
Ventricular septal defect, Renal cortical cysts, Renal cyst, Micropenis, Penile hypospadias |
ORPHA:1692 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Hypergonadotropic hypogonadism, Cardiomegaly, Splenomega... |
OMIM:602782 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Cardiomyopathy, Testicul... |
ORPHA:465508 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Glandular hypospadias, Cardiomegaly |
OMIM:620306 |
| Meckel Syndrome, Type 5 |
|
Renal cyst |
OMIM:611561 |
| Tuberous Sclerosis 1 |
|
Precocious puberty, Cardiac rhabdomyoma, Renal cyst, Renal cell carcinoma, Renal angiomyolipoma |
OMIM:191100 |
| Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Multicystic kidney dysplasia, Renal cyst |
ORPHA:2031 |
| Cornelia De Lange Syndrome 1 |
|
Hypospadias, Proteinuria, Ventricular septal defect, Ectopic kidney, Cryptorchidism, Abnormal ren... |
OMIM:122470 |
| Campomelia, Cumming Type |
|
Pancreatic cysts, Hepatomegaly, Multicystic kidney dysplasia, Multiple renal cysts |
ORPHA:1318 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Hypospadias, Ventricular septal defect, Unilateral renal agenesis, Cryptorchidism, Renal cyst, Ao... |
ORPHA:464311 |
| Joubert Syndrome 14 |
|
Ventricular septal defect, Renal cyst |
OMIM:614424 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Hepatomegaly, Renal cyst |
ORPHA:79303 |
| Tuberous Sclerosis 2 |
|
Absence of renal corticomedullary differentiation, Precocious puberty, Cardiac rhabdomyoma, Renal... |
OMIM:613254 |
| Fucosidosis |
|
Hepatomegaly, Mucopolysacchariduria, Cardiomegaly |
ORPHA:349 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Dilated cardiomyopathy, Renal artery stenosis, Cardiomegaly |
OMIM:208000 |
| Robinow Syndrome |
|
Multicystic kidney dysplasia, Small scrotum, Ventricular septal defect, External genital hypoplas... |
ORPHA:97360 |
| Sandhoff Disease |
|
Hepatosplenomegaly, Hepatomegaly, Urinary incontinence, Cardiomegaly |
OMIM:268800 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Hepatomegaly, Multicystic kidney dysplasia, Renal agenesis, Truncus arteriosus, Renal hypoplasia/... |
ORPHA:2538 |
| Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... |
ORPHA:363705 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, 3-Methylglutaconic aciduria, Cardiomegaly |
OMIM:619259 |
| Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Ventricular septal defect, Renal cyst, Horseshoe kidney |
OMIM:250410 |
| Joubert Syndrome 2 |
|
Hypoplastic male external genitalia, Renal insufficiency, Renal cyst, Nephronophthisis |
OMIM:608091 |
| Diaphanospondylodysostosis |
|
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cystic renal dysplasia, Enlarged kidney |
OMIM:608022 |
| Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
| Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,... |
ORPHA:18 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Urinary incontinence, Cardiomegaly |
OMIM:105210 |
| Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Dilated cardiomyopathy, Hydronephrosis |
OMIM:614921 |
| Trisomy 20P |
|
Hypospadias, Abnormality of the kidney, Cryptorchidism, Abnormality of the ureter, Abnormal local... |
ORPHA:261318 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... |
OMIM:261740 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Hypospadias, Ventricular septal defect, Unilateral renal agenesis, Cryptorchidism, Renal cyst, Ao... |
ORPHA:464306 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal insufficiency, Renal hamartoma, Testicular neoplasm, Nephrolithiasis, Renal cyst, Hypercalc... |
ORPHA:99880 |
| Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Left ventricular hypertrophy, Right atrial e... |
ORPHA:57777 |
| Smith-Lemli-Opitz Syndrome |
|
Bifid scrotum, Small scrotum, Renal cyst, Atrial septal defect, Micropenis, Penoscrotal hypospadi... |
OMIM:270400 |
| Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... |
ORPHA:1329 |
| Fryns Syndrome |
|
Bifid scrotum, Ureteral duplication, Renal agenesis, Hypospadias, Ventricular septal defect, Cryp... |
OMIM:229850 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Cardiomegaly, Oligosacchariduria, Left ventricular hypertrophy, Hypertrophic cardio... |
ORPHA:308552 |
| Danon Disease |
|
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... |
OMIM:300257 |
| Parathyroid Carcinoma |
|
Renal insufficiency, Renal hamartoma, Testicular neoplasm, Nephrolithiasis, Renal cyst, Hypercalc... |
ORPHA:143 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Meckel Syndrome, Type 2 |
|
Renal cyst |
OMIM:603194 |
| Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Renal cyst, Polycystic ovaries |
ORPHA:137675 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary... |
ORPHA:79404 |
| Floating-Harbor Syndrome |
|
Hypospadias, Cryptorchidism, Glandular hypospadias, Varicocele, Nephrocalcinosis, Congenital post... |
OMIM:136140 |
| Peroxisome Biogenesis Disorder 1B |
|
Hyperoxaluria, Renal cyst, Hepatomegaly |
OMIM:601539 |
| Distal Deletion 15Q |
|
Multicystic kidney dysplasia, Bicuspid aortic valve, Hypospadias, Mitral stenosis, Mitral atresia... |
ORPHA:1596 |
| Thauvin-Robinet-Faivre Syndrome |
|
Renal malrotation, Ventricular septal defect, Renal cyst, Mitral valve prolapse, Nephroblastoma, ... |
OMIM:617107 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Cryptorchidism, Multicystic kidney dysplasia, Vaginal atresia |
ORPHA:3301 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Pollakisuria, Right ventricular hypertrophy, Cardiomegaly |
ORPHA:268 |
| Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Renal hypoplasia, Renal cyst, Vesicoureteral reflux, Patent foramen ovale, ... |
OMIM:618460 |
| Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Pericardial effusion, Splenomegaly, Hepatosplenomegaly, Multiple renal cysts, E... |
ORPHA:464329 |
| Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
| Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Mitral stenosis, Renal dysplasia, Renal cyst |
OMIM:617260 |
| Townes-Brocks Syndrome |
|
Bifid scrotum, Atrial septal defect, Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnor... |
ORPHA:857 |
| Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Renal hypoplasia, Ambiguous genitalia, Pat... |
OMIM:269860 |
| Alveolar Echinococcosis |
|
Abnormal pericardium morphology, Pancreatic cysts, Renal cyst, Abnormal bladder morphology, Hepat... |
ORPHA:284 |
| Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Hepatomegaly, Cardiomegaly, Splenomegaly, Cryptorchidism, Nephrolithiasis, ... |
ORPHA:116 |
| Lymphangioleiomyomatosis |
|
Abnormal urinary color, Renal neoplasm, Chylopericardium, Hematuria, Multiple renal cysts, Renal ... |
ORPHA:538 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Precocious puberty, Cryptorchidism, Labial... |
ORPHA:96191 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Ambiguous genitalia, Cryptorchidism, Renal hypoplasia, Renal cyst |
OMIM:616300 |
| Meckel Syndrome |
|
Ureteral duplication, Multicystic kidney dysplasia, True hermaphroditism, Pancreatic cysts, Situs... |
ORPHA:564 |
| Mody |
|
Nephropathy, Abnormality of the kidney, Renal cyst, Glycosuria |
ORPHA:552 |
| Developmental And Epileptic Encephalopathy 95 |
|
Cryptorchidism, Hepatomegaly, Cardiomegaly |
OMIM:618143 |
| Attenuated Familial Adenomatous Polyposis |
|
Uterine leiomyoma, Multiple renal cysts |
ORPHA:220460 |
| Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
| Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Ventricular septal defect, Abnormal pulmonary ... |
ORPHA:1507 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
| Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Ventricular septal defect, Cardiomegaly |
OMIM:617022 |
| 2P15P16.1 Microdeletion Syndrome |
|
Decreased testicular size, Multicystic kidney dysplasia, Hypogonadism, Hydronephrosis |
ORPHA:261349 |
| Branchio-Oculo-Facial Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis |
ORPHA:1297 |
| Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Glycopeptiduria, Oligosacchariduria |
OMIM:230000 |
| Glycogen Storage Disease Ii |
|
Splenomegaly, Hepatomegaly, Urinary incontinence, Cardiomegaly |
OMIM:232300 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Ventricular septal defect, Hypospadias, Cryptorchidism, Renal cyst, Vesicoureteral reflux, Patent... |
OMIM:616975 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Atrial septal defect, Left ventricula... |
OMIM:245600 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatosplenomegaly, Hepatomegaly, Splenomegaly, Cardiomegaly |
OMIM:608013 |
| Radio-Renal Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia |
ORPHA:3015 |
| Joubert Syndrome With Hepatic Defect |
|
Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, Splenomegaly, Nephropathy |
ORPHA:1454 |
| Focal Dermal Hypoplasia |
|
Multicystic kidney dysplasia, Ventricular septal defect, Renal hypoplasia/aplasia, Horseshoe kidn... |
ORPHA:2092 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi... |
OMIM:600740 |
| Simpson-Golabi-Behmel Syndrome |
|
Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter... |
ORPHA:373 |
| Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Renal cyst |
OMIM:615560 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Renal insufficiency, Proteinuria, Pancreatic cysts, Chronic kidney disease, Renal cyst, Nephritis |
OMIM:208500 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Multicystic kidney dysplasia, Ambiguous genitalia, Vaginal neoplasm, Subvalvular aortic stenosis,... |
ORPHA:1052 |
| 1P36 Deletion Syndrome |
|
Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Abnormal heart valve morphology, Cry... |
ORPHA:1606 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Ureteral duplication, Hepatomegaly, Pancreatic cysts, Stage 5 chronic kidney disease, Renal cyst,... |
OMIM:266920 |
| Lethal Acantholytic Erosive Disorder |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:158687 |
| Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Ventricular septal defect, Ambigu... |
ORPHA:818 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Ventricular septal defect, Abnormal right ventri... |
ORPHA:500095 |
| Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Mucopolysaccharidur... |
ORPHA:581 |
| Immunodeficiency 96 |
|
Multicystic kidney dysplasia |
OMIM:619774 |
| 2Q37 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Nephroblastoma |
ORPHA:1001 |
| Williams Syndrome |
|
Hypoplasia of penis, Bicuspid aortic valve, Cardiomegaly, Abnormal tubulointerstitial morphology,... |
ORPHA:904 |
| Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Hypospadias, Cryptorchidism, Hypoplastic labia minora, Absence of labia majora, Renal cyst, Absen... |
ORPHA:495875 |
| Schinzel-Giedion Syndrome |
|
Streak ovary, Hypospadias, Abnormality of the ureter, Nephrolithiasis, Renal cyst, Micropenis, Ab... |
ORPHA:798 |
| Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Cystic renal dysplasia, Enlarged kidney |
OMIM:200995 |
| Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Atrial septal defect, Renal insufficiency, Multicystic kidney dysplasia, Hypospadi... |
OMIM:107480 |
| Pearson Syndrome |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Splenomegaly, Lacticaciduria, Renal cyst, Abnorma... |
ORPHA:699 |
| D-Bifunctional Protein Deficiency |
|
Splenomegaly, Hepatomegaly, Renal cyst |
OMIM:261515 |
| Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Mucopolysacchariduria, Hypertrophic cardiomyopathy, Enl... |
OMIM:252500 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Cryptorch... |
OMIM:300967 |
| Joubert Syndrome 1 |
|
Nephropathy, Renal cyst |
OMIM:213300 |
| Absence Of The Pulmonary Artery |
|
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... |
ORPHA:980 |
| Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... |
ORPHA:95430 |
| Tetrasomy 9P |
|
Renal dysplasia, Recurrent urinary tract infections, Pericarditis, Dextrocardia, Cryptorchidism, ... |
ORPHA:3310 |
| Truncus Arteriosus |
|
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... |
ORPHA:3384 |
| Trisomy 10P |
|
Rectovaginal fistula, Multiple renal cysts, Abnormality of the kidney, Abnormal heart morphology |
ORPHA:171929 |
| Alagille Syndrome 1 |
|
Duplicated collecting system, Atrial septal defect, Ventricular septal defect, Multiple small med... |
OMIM:118450 |
| Cranioectodermal Dysplasia 2 |
|
Hepatomegaly, Renal insufficiency, Splenomegaly, Renal cyst, Atrial septal defect, Left ventricul... |
OMIM:613610 |
| Neuromuscular Oculoauditory Syndrome |
|
Reduced renal corticomedullary differentiation, Multiple renal cysts |
OMIM:618733 |
| Cerebrocostomandibular Syndrome |
|
Ventricular septal defect, Ectopic kidney, Horseshoe kidney, Renal cyst, Atrial septal defect |
OMIM:117650 |
| Yunis-Varon Syndrome |
|
Hypospadias, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Renovascular hypertension, ... |
ORPHA:3472 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Cardiomegaly |
ORPHA:2463 |
| Jacobsen Syndrome |
|
Multicystic kidney dysplasia, Ventricular septal defect, Cryptorchidism, Hypoplastic left heart, ... |
ORPHA:2308 |
| Hajdu-Cheney Syndrome |
|
Hepatomegaly, Hypospadias, Ventricular septal defect, Splenomegaly, Multiple renal cysts, Aortic ... |
ORPHA:955 |
| Bohring-Opitz Syndrome |
|
Nephroblastoma, Abnormal cardiac septum morphology, Urinary retention, Cardiomegaly |
ORPHA:97297 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial... |
ORPHA:1677 |
| Fraser Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Small scrotum, Cryptorchidism, Re... |
ORPHA:2052 |
| Joubert Syndrome 21 |
|
Splenomegaly, Hyperechogenic kidneys, Renal cyst |
OMIM:615636 |
| Liver Disease, Severe Congenital |
|
Hepatomegaly, Recurrent urinary tract infections, Hypospadias, Left atrial enlargement, Ventricul... |
OMIM:619991 |
| Atelosteogenesis Type I |
|
Multiple renal cysts |
ORPHA:1190 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hepatomegaly, Hypospadias, Ventricular septal defect, Splenomegaly, Cryptorchidism, Renal cyst, D... |
OMIM:312870 |
| Genitopatellar Syndrome |
|
Multicystic kidney dysplasia, Small scrotum, Ventricular septal defect, Enlarged labia minora, Cr... |
OMIM:606170 |
| Peters Plus Syndrome |
|
Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Crypto... |
ORPHA:709 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Cryptorchidism, Proximal renal tubular acidosis... |
ORPHA:534 |
| Aicardi-Goutières Syndrome |
|
Hepatosplenomegaly, Micropenis, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:51 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Cardiomegaly, Oligosacchariduria, Left ventricular hypertrophy, Hypertrophic cardio... |
ORPHA:365 |
| Cerebrocostomandibular Syndrome |
|
Multicystic kidney dysplasia, Ventricular septal defect |
ORPHA:1393 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatosplenomegaly, Hepatomegaly, Ventricular hypertrophy, Cardiomegaly |
OMIM:618278 |
| Cutis Marmorata Telangiectatica Congenita |
|
Displacement of the urethral meatus, Multicystic kidney dysplasia |
ORPHA:1556 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Urethrovaginal fistula, Cryptorchidism, Renal hypoplasia, Renal cyst, Uterus... |
ORPHA:93271 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |
| Osteopathia Striata With Cranial Sclerosis |
|
Atrial septal defect, Multicystic kidney dysplasia, Ventricular septal defect |
OMIM:300373 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Decreased testicular size, Micropenis, Multicystic kidney dysplasia, Hydronephrosis |
OMIM:615287 |
| Abetalipoproteinemia |
|
Hepatomegaly, Cardiomegaly |
ORPHA:14 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Cornelia De Lange Syndrome |
|
Atrial septal defect, Renal insufficiency, Hypoplasia of penis, Multicystic kidney dysplasia, Hyp... |
ORPHA:199 |
| Orofaciodigital Syndrome Type 1 |
|
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Pancreatic cysts, Hydronephrosis |
ORPHA:2750 |
| Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega... |
ORPHA:75565 |
| C Syndrome |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cryptorchidism, Horseshoe kidney, Female ... |
ORPHA:1308 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Splenomegaly, Hepatomegaly, Epididymitis, Cardiomegaly |
OMIM:256040 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bifid scrotum, Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Bicuspid aortic v... |
ORPHA:261537 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Renal cyst |
OMIM:272460 |
| Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Hyperphosphaturia, Cardiomegaly, Pericardial effusion, Myocardial calcif... |
ORPHA:51608 |
| Proteus Syndrome |
|
Testicular neoplasm, Enlarged polycystic ovaries, Splenomegaly, Long penis, Renal cyst, Ovarian n... |
ORPHA:744 |
| Mowat-Wilson Syndrome |
|
Bifid scrotum, Bicuspid aortic valve, Urinary incontinence, Vesicoureteral reflux, Webbed penis, ... |
ORPHA:2152 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bifid scrotum, Bicuspid aortic valve, Urinary incontinence, Vesicoureteral reflux, Webbed penis, ... |
ORPHA:261552 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Hypospadias, Unilateral renal agenesis, Cryptorchid... |
OMIM:308205 |
| Pallister-Killian Syndrome |
|
Small scrotum, Hypospadias, Ventricular septal defect, Cryptorchidism, Renal cyst, Hypoplastic la... |
OMIM:601803 |
| Branchiooculofacial Syndrome |
|
Cryptorchidism, Renal agenesis, Hypospadias, Renal cyst |
OMIM:113620 |
| Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis... |
OMIM:182250 |
| Pmm2-Cdg |
|
Pericarditis, Proteinuria, Hypogonadotropic hypogonadism, Pericardial effusion, Nephrotic syndrom... |
ORPHA:79318 |
| Craniofacial Microsomia 1 |
|
Multicystic kidney dysplasia, Renal agenesis, Ventricular septal defect, Ectopic kidney, Vesicour... |
OMIM:164210 |
