| Polycystic Kidney Disease 5 |
|
Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico... |
OMIM:617610 |
| Nephronophthisis 14 |
|
Nephronophthisis, Polycystic kidney dysplasia, Situs inversus totalis |
OMIM:614844 |
| Nephronophthisis 16 |
|
Aortic valve stenosis, Nephronophthisis, Hypertrophic cardiomyopathy, Stage 5 chronic kidney dise... |
OMIM:615382 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Renal Hypodysplasia/Aplasia 3 |
|
Multicystic kidney dysplasia, Renal agenesis, Abnormality of the uterus, Horseshoe kidney, Vesico... |
OMIM:617805 |
| Polycystic Kidney Disease 7 |
|
Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ... |
OMIM:620056 |
| Bardet-Biedl Syndrome 10 |
|
Hypogonadism, Renal cyst, Renal insufficiency |
OMIM:615987 |
| Renal Dysplasia, Cystic, Susceptibility To |
|
Hyperechogenic kidneys, Vesicoureteral reflux, Renal insufficiency, Renal dysplasia, Cystic renal... |
OMIM:601331 |
| Meckel Syndrome, Type 8 |
|
Hyperechogenic kidneys, Ambiguous genitalia, Pericardial effusion, Polycystic kidney dysplasia, E... |
OMIM:613885 |
| RCAD (renal cysts and diabetes) |
|
Multiple renal cysts |
DECIPHER:47 |
| Genitopalatocardiac Syndrome |
|
Ventricular septal defect, Renal cyst, Transposition of the great arteries, Gonadal dysgenesis, m... |
OMIM:231060 |
| Meckel Syndrome, Type 11 |
|
Polycystic kidney dysplasia |
OMIM:615397 |
| Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Polycystic kidney dysplasia, Renal insufficiency, Hepatic cysts, Mitral valve prolapse |
OMIM:173900 |
| Bardet-Biedl Syndrome 16 |
|
Renal agenesis, Hypogonadism, External genital hypoplasia, Stage 5 chronic kidney disease, Renal ... |
OMIM:615993 |
| Nephronophthisis 20 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Vesicoureteral reflux, Renal insufficiency, Ren... |
OMIM:617271 |
| Indomethacin Embryofetopathy |
|
Nephropathy, Multicystic kidney dysplasia, Cardiomyopathy, Renal insufficiency, Ventricular septa... |
ORPHA:1909 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Renal insufficiency, Situs in... |
OMIM:613095 |
| Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
| Bardet-Biedl Syndrome 4 |
|
Hypogonadism, External genital hypoplasia, Cryptorchidism, Renal cyst, Abnormality of the kidney |
OMIM:615982 |
| Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal insufficiency, Hepati... |
OMIM:618061 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypertrophic cardiomyopathy, Cryptorchidism, Cardiomegaly, Perimembranous ventricular septal defe... |
OMIM:620135 |
| Thomas Syndrome |
|
Hypoplastic left heart, Multicystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:3316 |
| Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki... |
OMIM:618270 |
| Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Hepatomegaly, Polycystic kidney dysplasia |
OMIM:614859 |
| Meckel Syndrome, Type 9 |
|
Multicystic kidney dysplasia, Ambiguous genitalia |
OMIM:614209 |
| Hanac Syndrome |
|
Hematuria, Multiple renal cysts, Renal insufficiency |
ORPHA:73229 |
| Meckel Syndrome 13 |
|
Polycystic kidney dysplasia |
OMIM:617562 |
| Congenital Megacalycosis |
|
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... |
ORPHA:93109 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Splenomegaly, ... |
OMIM:263200 |
| Hyperparathyroidism 2 With Jaw Tumors |
|
Papillary renal cell carcinoma, Nephroblastoma, Nephrolithiasis, Polycystic kidney dysplasia, Ren... |
OMIM:145001 |
| Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:604765 |
| Fanconi Anemia, Complementation Group O |
|
Abnormal heart morphology, External genital hypoplasia, Stage 5 chronic kidney disease, Cryptorch... |
OMIM:613390 |
| Distal Triplication 15Q |
|
Dilatation of the renal pelvis, Horseshoe kidney, Abnormal heart morphology, Nephroblastoma, Hydr... |
ORPHA:314588 |
| Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Polycystic kidney dysplasia, Hepatic cysts |
OMIM:600666 |
| Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Renal angiomyolipoma, Polycystic kidney dysplasia |
OMIM:600273 |
| Femoral-Facial Syndrome |
|
Long penis, Cryptorchidism, Renal hypoplasia/aplasia, Abnormal localization of kidney, Polycystic... |
ORPHA:1988 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Unilateral renal agenesis, Uterus didelphys, Abnormal heart morphology, Septate vagina, Vesicoure... |
ORPHA:2237 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Abnormal heart morphology, Bicornuate uterus, Polycystic kidney dysplasia |
OMIM:263210 |
| Renal Tubular Dysgenesis |
|
Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Tetralogy of Fallot, Multiple renal cysts |
ORPHA:3033 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Cryptorchidism, Ventricular septal defect, Hepatomegaly, Ectopic kidney, Cystic renal dysplasia |
OMIM:613730 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Hyperechogenic kidneys, Hypertrophic cardiomyopathy, Hepatosplenomegaly, Reduced renal corticomed... |
OMIM:619902 |
| Trisomy 17P |
|
Aortic valve stenosis, Hypoplastic left heart, Hydronephrosis, Hypoplasia of penis, Urethral valv... |
ORPHA:261290 |
| Diethylstilbestrol Syndrome |
|
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... |
ORPHA:1916 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Aminoaciduria, Clitoral hypertrophy, Abnormal heart morphology, Cryptorchidism, Hepatomegaly, Pol... |
OMIM:214110 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Macroorchidism |
OMIM:300886 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Splenomegaly, Atrial septal defect, Hepatomegaly, Polycystic kidney dysplasia, Pericardial effusion |
OMIM:608776 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Red-brown urine, Cardiomyopathy, Dicarboxylic aciduria, Renal insufficiency, Cardiomegaly, Hepato... |
ORPHA:228308 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Tetralogy of Fallot, Vesicoureteral reflux, Cryptorchidism, Ventricular septal defect, Renal hypo... |
ORPHA:1166 |
| Campomelia, Cumming Type |
|
Pancreatic cysts, Polycystic kidney dysplasia |
OMIM:211890 |
| Attrv30M Amyloidosis |
|
Nephropathy, Cardiomegaly, Cardiomyopathy, Abnormal renal physiology |
ORPHA:85447 |
| Prune Belly Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Abnormality of the uterus, Recurrent urinary tract inf... |
ORPHA:2970 |
| Mckusick-Kaufman Syndrome |
|
Hydroureter, Vesicovaginal fistula, Hydrometrocolpos, Transverse vaginal septum, Cryptorchidism, ... |
OMIM:236700 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Aortic valve stenosis, Renal dysplasia, Stage 5 chronic kidney disease, Renal insufficiency, Situ... |
OMIM:208540 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Red-brown urine, Cardiomyopathy, Stage 5 chronic kidney disease, Hepatomegaly, Myoglobinuria, Ren... |
ORPHA:157 |
| Bardet-Biedl Syndrome 6 |
|
Vaginal atresia, Renal cyst, External genital hypoplasia, Hypospadias |
OMIM:605231 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Glycosuria, Renal cortical cy... |
OMIM:231680 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Dilated cardiomyopathy, Renal dysplasia, Renal insufficiency, Hydronephrosis, Cardiomegaly, Long-... |
OMIM:608836 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Hepatomegaly, Renal cyst |
OMIM:614870 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hematocolpos, Multicystic kidney dysplasia, Abnormal female external genitalia morphology, Reduce... |
OMIM:277000 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
3-Methylglutaric aciduria, Glutaric aciduria, Cardiomyopathy, Abnormal heart morphology, Lacticac... |
ORPHA:26791 |
| Alagille Syndrome 2 |
|
Renal hypoplasia, Tetralogy of Fallot, Renal insufficiency, Renal tubular acidosis, Proteinuria, ... |
OMIM:610205 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hypospadias, Renal hypoplasia, Polycystic kidney dysplasia, Renal cyst |
OMIM:614091 |
| Joubert Syndrome 39 |
|
Hypoplastic left heart, Polycystic kidney dysplasia |
OMIM:619562 |
| Odontochondrodysplasia 1 |
|
Nephronophthisis, Polycystic kidney dysplasia |
OMIM:184260 |
| 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, Renal corticomedullary cyst... |
OMIM:603860 |
| Renal Dysplasia |
|
Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure... |
ORPHA:93108 |
| Branchiootorenal Syndrome 1 |
|
Unilateral renal agenesis, Renal malrotation, Abnormal renal collecting system morphology, Vesico... |
OMIM:113650 |
| Meckel Syndrome 14 |
|
Aplasia of the uterus, Ambiguous genitalia, Polycystic kidney dysplasia, Single ventricle |
OMIM:619879 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Hypospadias, Clitoral hypertrophy, Hepatosplenomegaly, Cryptorchidism, Splenomegaly, Ventricular ... |
OMIM:614866 |
| Trisomy X |
|
Precocious puberty, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Ventricular septal de... |
ORPHA:3375 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Renal dysplasia, Ambiguous genitalia, Micropenis, Polycystic kidney dysplasia, Enlarged kidney |
OMIM:613091 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... |
ORPHA:730 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, E... |
OMIM:618052 |
| Neurooculocardiogenitourinary Syndrome |
|
Bilateral cryptorchidism, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial s... |
OMIM:618652 |
| Isolated Polycystic Liver Disease |
|
Hepatomegaly, Multiple renal cysts |
ORPHA:2924 |
| Interstitial Nephritis, Karyomegalic |
|
Nephronophthisis, Renal tubular cyst, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, He... |
OMIM:614817 |
| Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Renal cyst |
OMIM:174050 |
| Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Renal dysplasia |
ORPHA:3032 |
| Bardet-Biedl Syndrome 17 |
|
Hypogonadism, Stage 5 chronic kidney disease, Situs inversus totalis, Renal cyst, Polyuria, Dextr... |
OMIM:615994 |
| Polysyndactyly With Cardiac Malformation |
|
Hepatic cysts, Renal cyst, Atrial septal defect, Ventricular septal defect |
OMIM:263630 |
| Cystic Hamartoma Of Lung And Kidney |
|
Multicystic kidney dysplasia |
ORPHA:2111 |
| Renal Cysts And Diabetes Syndrome |
|
Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Stage 5 chronic kidney disease, Ureterop... |
OMIM:137920 |
| 46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Abnormality of the urethra, Female pseudohermaphroditi... |
ORPHA:2973 |
| Intellectual Developmental Disorder, X-Linked 112 |
|
Enuresis nocturna, Enuresis, Dilatation of the renal pelvis, Horseshoe kidney, Abnormal heart mor... |
OMIM:301111 |
| Arima Syndrome |
|
Nephronophthisis, Stage 5 chronic kidney disease, Renal sodium wasting, Hematuria, Proteinuria, R... |
OMIM:243910 |
| Floating-Harbor Syndrome |
|
Precocious puberty, Hypospadias, Nephrocalcinosis, Varicocele, Dilatation of the renal pelvis, Re... |
ORPHA:2044 |
| Phelan-Mcdermid Syndrome |
|
Vesicoureteral reflux, Polycystic kidney dysplasia, Abnormality of the kidney, Ventricular septal... |
OMIM:606232 |
| Joubert Syndrome 16 |
|
Renal cyst, Nephronophthisis |
OMIM:614465 |
| Joubert Syndrome 18 |
|
Horseshoe kidney, Renal cyst, Ventricular septal defect |
OMIM:614815 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Ventricular septal defect, Ambiguous genitalia, Atrial septal defect, Micropenis, Polycystic kidn... |
OMIM:263520 |
| Mckusick-Kaufman Syndrome |
|
Hypoplastic left heart, Multicystic kidney dysplasia, Hydrometrocolpos, Glandular hypospadias, Te... |
ORPHA:2473 |
| Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Nephrotic syndrome, Cardiomegaly, Splenomegaly |
OMIM:269920 |
| Syndromic Diarrhea |
|
Renal hypoplasia, Abnormal heart morphology, Tetralogy of Fallot, Splenomegaly, Ventricular septa... |
ORPHA:84064 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
| Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Cryptorchidism, Male pseudohermaphroditism, Gonadal dysgenesis, mal... |
ORPHA:2075 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Renal cyst |
OMIM:617056 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Micropenis, Polycystic kidney dysplasia, Atrial septal defect |
OMIM:616546 |
| Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Polycystic kidney dysplasia, Hyperechogenic kidneys |
OMIM:617866 |
| Distal Deletion 12Q |
|
Congenital hypertrophy of left ventricle, Vesicoureteral reflux, Patent foramen ovale, Hydronephr... |
ORPHA:96149 |
| Multicystic Dysplastic Kidney |
|
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... |
ORPHA:1851 |
| Meckel Syndrome, Type 1 |
|
Hypoplasia of the bladder, Renal agenesis, Abnormality of the uterus, Abnormality of the ureter, ... |
OMIM:249000 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Splenomegaly, Renal cyst, Hepatomegaly, Pancreatic cysts, Polycystic kidney dysplasia |
OMIM:610199 |
| Renal Hypoplasia, Bilateral |
|
Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas... |
ORPHA:97362 |
| Nephronophthisis 3 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico... |
OMIM:604387 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| Acrorenal-Mandibular Syndrome |
|
Uterus didelphys, Renal agenesis, Aplasia of the bladder, Abnormality of the ureter, Unicornuate ... |
OMIM:200980 |
| Rhyns Syndrome |
|
Multicystic kidney dysplasia, Nephronophthisis |
ORPHA:140976 |
| Hajdu-Cheney Syndrome |
|
Cryptorchidism, Ventricular septal defect, Renal cyst, Polycystic kidney dysplasia, Hypospadias |
OMIM:102500 |
| Vacterl/Vater Association |
|
Multicystic kidney dysplasia, Abnormality of the urethra, Renal agenesis, Bifid scrotum, Abnormal... |
ORPHA:887 |
| Hemochromatosis, Type 1 |
|
Cardiomyopathy, Azoospermia, Splenomegaly, Cardiomegaly, Hypogonadotropic hypogonadism, Hepatomeg... |
OMIM:235200 |
| Ogden Syndrome |
|
Secundum atrial septal defect, Decreased testicular size, Cryptorchidism, Patent foramen ovale, V... |
OMIM:300855 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo... |
ORPHA:860 |
| Orofaciodigital Syndrome I |
|
Abnormal heart morphology, Hepatic cysts, Ovarian cyst, Proteinuria, Pancreatic cysts, Polycystic... |
OMIM:311200 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Aortic valve stenosis, Hypertrophic cardiomyopathy, Situs inversus totalis, Hepatic cysts, Truncu... |
OMIM:615415 |
| Beckwith-Wiedemann Syndrome |
|
Nephrocalcinosis, Pancreatic hyperplasia, Cardiomyopathy, Overgrowth of external genitalia, Renal... |
OMIM:130650 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Perimembranous ventricular septal defect |
OMIM:619170 |
| Neuraminidase Deficiency |
|
Urinary excretion of sialylated oligosaccharides, Cardiomyopathy, Increased urinary O-linked sial... |
OMIM:256550 |
| Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:3270 |
| Bardet-Biedl Syndrome 12 |
|
Hydroureter, Hydrometrocolpos, Hypogonadism, Hydronephrosis, Vaginal atresia, Cystic renal dysplasia |
OMIM:615989 |
| Nephronophthisis 2 |
|
Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Situs inversus totalis,... |
OMIM:602088 |
| Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Bacterial endocarditis, Cardiac myxoma, Cardiomegaly |
ORPHA:615 |
| Joubert Syndrome 20 |
|
Renal cyst |
OMIM:614970 |
| 22Q11.2 Deletion Syndrome |
|
Renal hypoplasia, Abnormality of the uterus, Tetralogy of Fallot, Vesicoureteral reflux, Cryptorc... |
ORPHA:567 |
| Tuberous Sclerosis Complex |
|
Chronic kidney disease, Stage 5 chronic kidney disease, Renal insufficiency, Cardiac rhabdomyoma,... |
ORPHA:805 |
| Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Renal cyst, Multiple renal cysts |
OMIM:614883 |
| Epidermal Nevus Syndrome |
|
Polycystic kidney dysplasia |
ORPHA:35125 |
| Mulibrey Nanism |
|
Nephroblastoma, Cardiomegaly, Pericardial constriction, Hepatomegaly, Myocardial fibrosis |
OMIM:253250 |
| Carnitine Deficiency, Systemic Primary |
|
Cardiomyopathy, Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Endocardial fibroelastosis, C... |
OMIM:212140 |
| Transketolase Deficiency |
|
Increased level of ribose in urine, Abnormal heart morphology, Patent foramen ovale, Ventricular ... |
ORPHA:488618 |
| Renal Coloboma Syndrome |
|
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Renal... |
ORPHA:1475 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Megacystis, Neoplasm of the heart, Cryptorchidism |
ORPHA:2241 |
| Caroli Disease |
|
Hepatomegaly, Polycystic kidney dysplasia, Splenomegaly |
ORPHA:53035 |
| Mucopolysaccharidosis, Type Iiib |
|
Heparan sulfate excretion in urine, Splenomegaly, Cardiomegaly, Hepatomegaly, Asymmetric septal h... |
OMIM:252920 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal hypoplasia, Cardiomyopathy, Renal insufficiency, Renal tubular acidosis, Renal cyst, Hepato... |
OMIM:614922 |
| Von Hippel-Lindau Syndrome |
|
Multiple renal cysts, Renal cell carcinoma, Epididymal cyst, Pancreatic cysts, Papillary cystaden... |
OMIM:193300 |
| Meckel Syndrome, Type 7 |
|
Aortic valve stenosis, Multicystic kidney dysplasia, Hepatosplenomegaly, Stage 5 chronic kidney d... |
OMIM:267010 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Cardiomegaly, Right atrial enlargement, Nephrocalcinosis |
OMIM:614473 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Cardiomegaly, Hepatomegaly, Dilated cardiomyopathy |
OMIM:600649 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Left atrial e... |
OMIM:300280 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Hydronephrosis, Cardiomegaly, Micropenis,... |
OMIM:616897 |
| Trisomy 13 |
|
Abnormal morphology of female internal genitalia, Abnormality of the ureter, Cryptorchidism, Disp... |
ORPHA:3378 |
| 17Q12 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Ureterocele, Renal insufficiency, Cryptorchidism, Renal hypoplasia/... |
ORPHA:261265 |
| Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:858 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Mitral valve prolapse, Cardiomegaly, Abnormal atrioventricular valve morph... |
ORPHA:324410 |
| Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Hematuria, Renal cyst, Renal insufficiency |
OMIM:611773 |
| Verheij Syndrome |
|
Renal hypoplasia, Renal agenesis, Truncus arteriosus, Ventricular septal defect, Renal cyst |
OMIM:615583 |
| Say Syndrome |
|
Cystic renal dysplasia, Proximal renal tubular acidosis |
OMIM:181180 |
| Cystic Echinococcosis |
|
Abnormality of the testis size, Abnormal heart morphology, Hepatic cysts, Ovarian cyst, Renal cys... |
ORPHA:400 |
| Fixed Subaortic Stenosis |
|
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... |
ORPHA:3092 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly, Oligosacchariduria |
ORPHA:3137 |
| Familial Adenomatous Polyposis 4 |
|
Renal cyst, Ovarian cyst, Uterine leiomyoma |
OMIM:617100 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Acute kidney injury, Oliguria, Recurrent urinary tract infections, Hepatosplenomegaly, Reduced re... |
ORPHA:731 |
| Congenital Tricuspid Valve Dysplasia |
|
Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ... |
ORPHA:555874 |
| Birt-Hogg-Dube Syndrome 1 |
|
Renal neoplasm, Renal cyst, Renal cell carcinoma |
OMIM:135150 |
| Joubert Syndrome 7 |
|
Renal cyst, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:611560 |
| 15q26 overgrowth syndrome |
|
Duplication of renal pelvis, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephro... |
DECIPHER:81 |
| Nephronophthisis 1 |
|
Nephronophthisis, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Renal... |
OMIM:256100 |
| Penile Agenesis |
|
Hydroureter, Bilateral renal agenesis, Bilateral renal hypoplasia, Unilateral renal hypoplasia, C... |
ORPHA:49 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly |
OMIM:619064 |
| Mosaic Trisomy 9 |
|
Hypoplastic female external genitalia, Abnormality of the uterus, Horseshoe kidney, Abnormal hear... |
ORPHA:99776 |
| Meckel Syndrome, Type 10 |
|
Micropenis, Renal cyst, Hypospadias |
OMIM:614175 |
| Trisomy 1Q |
|
Small scrotum, Multicystic kidney dysplasia, Cryptorchidism, Ventricular septal defect, Hydroneph... |
ORPHA:261344 |
| Papillorenal Syndrome |
|
Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Stage 5... |
OMIM:120330 |
| Nephronophthisis 4 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubulointerstitia... |
OMIM:606966 |
| Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the urinary system, Abnormal morphology of female internal genitalia, Abnormality ... |
ORPHA:1834 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Acute kidney injury, Multicystic kidney dysplasia, Absent vas deferens, Renal agenesis, Horseshoe... |
ORPHA:93111 |
| Refsum Disease, Classic |
|
Cardiomegaly, Cardiomyopathy, Abnormal renal physiology |
OMIM:266500 |
| Femoral-Facial Syndrome |
|
Abnormal renal collecting system morphology, Renal agenesis, Cryptorchidism, Ventricular septal d... |
OMIM:134780 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Myofibe... |
OMIM:115197 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial effusion |
OMIM:614702 |
| Roberts Syndrome |
|
Clitoral hypertrophy, Long penis, Polycystic kidney dysplasia, Cryptorchidism |
ORPHA:3103 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Horseshoe kidney, Renal cyst, Cryptorchidism, Ventricular septal defect |
ORPHA:166035 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Renal hypoplasia, Tetralogy of Fallot, Muscular ventricular septal defect, Cryptorchidism, Patent... |
OMIM:210710 |
| Coach Syndrome 1 |
|
Unilateral renal agenesis, Nephronophthisis, Multiple small medullary renal cysts, Stage 5 chroni... |
OMIM:216360 |
| Diaphanospondylodysostosis |
|
Multiple renal cysts |
ORPHA:66637 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly |
OMIM:619051 |
| Joubert Syndrome 35 |
|
Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis, Recurrent urinary tract infections |
OMIM:618161 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Multicystic kidney dysplasia, Bifid scrotum, Cryptorchidism, Nephroblastoma, Renal cyst, Ambiguou... |
OMIM:257300 |
| Attrv122I Amyloidosis |
|
Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Lef... |
ORPHA:85451 |
| Double Outlet Left Ventricle |
|
Cryptorchidism, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmonary valv... |
ORPHA:3427 |
| Kleefstra Syndrome |
|
Tetralogy of Fallot, Vesicoureteral reflux, Renal insufficiency, Cryptorchidism, Ventricular sept... |
ORPHA:261494 |
| Pagod Syndrome |
|
Hypoplastic left heart, Multicystic kidney dysplasia, Abnormality of the uterus, Abnormal morphol... |
ORPHA:991 |
| Axial Osteomalacia |
|
Renal cyst |
OMIM:109130 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Tetralogy of Fallot, Renal insufficiency, Ventricular septal defect, Truncus arteriosus, Renal cy... |
OMIM:617478 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy... |
OMIM:306955 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Elevated urinary 3-hydroxybutyric acid, Cardiomegaly, Dicarboxylic aciduria |
ORPHA:42 |
| Meckel Syndrome, Type 4 |
|
Renal cyst, Atrial septal defect, Ventricular septal defect |
OMIM:611134 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Ureteral agenesis, Renal cyst, Renal hypoplasia, Renal dysplasia |
OMIM:236500 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly, Nephrotic syndrome |
OMIM:617713 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Glomerulonephritis |
ORPHA:99931 |
| Coronary Arterial Fistula |
|
Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C... |
ORPHA:2041 |
| Meckel Syndrome, Type 6 |
|
Aplasia of the bladder, Horseshoe kidney, Hepatic cysts, Renal cyst, Abnormal internal genitalia |
OMIM:612284 |
| Braddock-Carey Syndrome 1 |
|
Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular septal defect |
OMIM:619980 |
| Fliedner-Zweier Syndrome |
|
Unilateral renal agenesis, Multicystic kidney dysplasia, Ventricular septal defect, Hydronephrosi... |
OMIM:620511 |
| Caroli Syndrome |
|
Hepatomegaly, Polycystic kidney dysplasia, Abnormality of the kidney |
ORPHA:480520 |
| Hsd10 Disease, Infantile Type |
|
Abnormal concentration of acylcarnitine in the urine, Abnormality of the lower urinary tract, Car... |
ORPHA:391428 |
| Chromosome 17Q12 Deletion Syndrome |
|
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Hypoplasia of the blad... |
OMIM:614527 |
| Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Multicystic kidney dysplasia, Cryptorchidism, Fetal megacystis |
ORPHA:73246 |
| Von Hippel-Lindau Disease |
|
Cardiomyopathy, Pancreatic cysts, Elevated urinary catecholamine level, Multiple renal cysts, Ren... |
ORPHA:892 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Exercise-induced myoglobinuria, Cardiomegaly,... |
OMIM:201475 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Ketonuria, Dicarboxylic aciduria, Renal tubular acidosis, Cardiomegaly, Hepatomegaly |
OMIM:255120 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Nephrocalcinosis, Cardiomyopathy, Renal insufficiency, 3-Methylglutaconic aciduria, Renal cyst |
ORPHA:445038 |
| Pseudo-Torch Syndrome 3 |
|
Proteinuria, Acute kidney injury, Cardiomegaly |
OMIM:618886 |
| Aorta Coarctation |
|
Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ... |
ORPHA:1457 |
| Zellweger Syndrome |
|
Multicystic kidney dysplasia, Clitoral hypertrophy, Cryptorchidism, Ventricular septal defect, Hy... |
ORPHA:912 |
| Timothy Syndrome |
|
Tetralogy of Fallot, Cardiomegaly, Patent foramen ovale, Ventricular septal defect |
OMIM:601005 |
| Genitopatellar Syndrome |
|
Small scrotum, Multicystic kidney dysplasia, Clitoral hypertrophy, Cryptorchidism, Hydronephrosis... |
ORPHA:85201 |
| Marden-Walker Syndrome |
|
Abnormal penis morphology, Multicystic kidney dysplasia, Abnormality of the urinary system, Hydro... |
ORPHA:2461 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Nephrocalcinosis, Restrictive cardiomyopathy, Hydroureter, Ureteral stenosis, Renal cyst, Hyperca... |
OMIM:615398 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Impaired renal uric acid clearance, Renal hypoplasia, Tubular basement membrane disintegration, D... |
OMIM:174000 |
| Cantu Syndrome |
|
Cardiomegaly, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion |
OMIM:239850 |
| Ulbright-Hodes Syndrome |
|
Abnormal penis morphology, Renal hypoplasia, Clitoral hypertrophy, Enlarged labia minora, Cryptor... |
ORPHA:3404 |
| Bor Syndrome |
|
Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction ... |
ORPHA:107 |
| Isolated Right Ventricular Hypoplasia |
|
Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig... |
ORPHA:439 |
| Long-Olsen-Distelmaier Syndrome |
|
Cardiomegaly, Dilated cardiomyopathy, Secundum atrial septal defect, Ventricular septal defect |
OMIM:620609 |
| Harrod Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism |
ORPHA:2115 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Renal cyst, Proximal tubulopathy |
OMIM:602579 |
| Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Renal agenesis, Ventricular septal defect, Atr... |
OMIM:220500 |
| Peutz-Jeghers Syndrome |
|
Abnormality of the ureter, Enlarged polycystic ovaries, Multiple renal cysts, Renal cell carcinom... |
ORPHA:2869 |
| Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Hepatomegaly, Renal cyst |
OMIM:614862 |
| Nabais Sa-De Vries Syndrome, Type 2 |
|
Hypoplastic left heart, Multicystic kidney dysplasia |
OMIM:618829 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Abnormal heart morphology, Abnormal aortic valve morphology, Atrial... |
ORPHA:261197 |
| Fryns Syndrome |
|
Multicystic kidney dysplasia, Tetralogy of Fallot, Vesicoureteral reflux, Cryptorchidism, Hydrone... |
ORPHA:2059 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
| Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Renal cyst, Ovarian dermoid cyst, Uterine leiomyoma |
ORPHA:480536 |
| Mogs-Cdg |
|
Hepatosplenomegaly, External genital hypoplasia, Cardiomegaly, Left ventricular hypertrophy, Atri... |
ORPHA:79330 |
| Meckel Syndrome, Type 3 |
|
Hepatomegaly, Multicystic kidney dysplasia |
OMIM:607361 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Proximal tubulopathy, Cardiomyopathy, Proteinuria, Renal cyst, Hepatomegaly, Nephrotic syndrome, ... |
OMIM:212065 |
| Ciliary Dyskinesia, Primary, 53 |
|
Situs inversus totalis, Patent foramen ovale, Cardiomegaly, Perimembranous ventricular septal def... |
OMIM:620642 |
| Sickle Cell Disease |
|
Renal insufficiency, Splenomegaly, Hematuria, Cardiomegaly, Hepatomegaly |
OMIM:603903 |
| Pallister-Hall Syndrome |
|
Precocious puberty, Renal hypoplasia, Hydroureter, Decreased testicular size, Distal urethral dup... |
OMIM:146510 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Small scrotum, Renal hypoplasia, Microphallus, Vesicoureteral reflux, Cryptorchidism, Patent fora... |
OMIM:618454 |
| Roberts-Sc Phocomelia Syndrome |
|
Clitoral hypertrophy, Long penis, Horseshoe kidney, Enlarged labia minora, Cryptorchidism, Ventri... |
OMIM:268300 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Cardiomyopathy, Splenomegaly, Cardiomegaly, Hypogonadotropic hypogonadism, Hepatomegaly, Testicul... |
ORPHA:465508 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Precocious puberty, Nephrocalcinosis, Restrictive cardiomyopathy, Abnormality of the urinary syst... |
ORPHA:369837 |
| Gaucher Disease, Type Iiic |
|
Aortic valve calcification, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral valve calcificati... |
OMIM:231005 |
| Mosaic Trisomy 1 |
|
Renal cortical cysts, Penile hypospadias, Ventricular septal defect, Renal cyst, Micropenis |
ORPHA:1692 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Glandular hypospadias, Cardiomegaly |
OMIM:620306 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Azoospermia, Hepatosplenomegaly, Splenomegaly, Mitral valve prolapse, Ventricular septal defect, ... |
OMIM:602782 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic valve stenosis, Unilateral renal agenesis, Hypospadias, Cryptorchidism, Ventricular septal... |
ORPHA:464311 |
| Tuberous Sclerosis 1 |
|
Precocious puberty, Cardiac rhabdomyoma, Renal angiomyolipoma, Renal cyst, Renal cell carcinoma |
OMIM:191100 |
| Meckel Syndrome, Type 5 |
|
Renal cyst |
OMIM:611561 |
| Sandhoff Disease |
|
Increased urinary N-acetylglucosamine-rich oligosaccharide level, Hepatosplenomegaly, Cardiomegal... |
OMIM:268800 |
| Cornelia De Lange Syndrome 1 |
|
Renal hypoplasia, Hypoplastic male external genitalia, Reduced renal corticomedullary differentia... |
OMIM:122470 |
| Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Renal cyst, Multicystic kidney dysplasia |
ORPHA:2031 |
| Fucosidosis |
|
Hepatomegaly, Mucopolysacchariduria, Cardiomegaly |
ORPHA:349 |
| Campomelia, Cumming Type |
|
Hepatomegaly, Multicystic kidney dysplasia, Pancreatic cysts, Multiple renal cysts |
ORPHA:1318 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Hepatomegaly, Renal cyst, Dark urine |
ORPHA:79303 |
| Robinow Syndrome |
|
Webbed penis, Small scrotum, Multicystic kidney dysplasia, Abnormal heart morphology, External ge... |
ORPHA:97360 |
| Joubert Syndrome 14 |
|
Renal cyst, Ventricular septal defect |
OMIM:614424 |
| Trisomy 20P |
|
Abnormal localization of kidney, Abnormality of the ureter, Cryptorchidism, Hydronephrosis, Multi... |
ORPHA:261318 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Crossed fused renal ectopia, Peri... |
ORPHA:2538 |
| Tuberous Sclerosis 2 |
|
Precocious puberty, Cardiac rhabdomyoma, Renal angiomyolipoma, Renal cyst, Renal cell carcinoma, ... |
OMIM:613254 |
| Joubert Syndrome 2 |
|
Renal cyst, Nephronophthisis, Renal insufficiency, Hypoplastic male external genitalia |
OMIM:608091 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Cardiomegaly, Renal artery stenosis, Dilated cardiomyopathy |
OMIM:208000 |
| Diaphanospondylodysostosis |
|
Nephroblastomatosis, Horseshoe kidney, Nephrogenic rest, Enlarged kidney, Cystic renal dysplasia |
OMIM:608022 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomegaly, Cardiomyopathy, 3-Methylglutaconic aciduria |
OMIM:619259 |
| Distal Renal Tubular Acidosis |
|
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria, Decrease... |
ORPHA:18 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Aortic valve stenosis, Unilateral renal agenesis, Hypospadias, Cryptorchidism, Ventricular septal... |
ORPHA:464306 |
| Cirrhotic Cardiomyopathy |
|
Cardiomegaly, Left atrial enlargement, Left ventricular hypertrophy, Hepatomegaly, Right atrial e... |
ORPHA:57777 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Nephrocalcinosis, Renal hamartoma, Renal insufficiency, Nephroblastoma, Nephrolithiasis, Renal cy... |
ORPHA:99880 |
| Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Horseshoe kidney, Renal cyst, Ventricular septal defect |
OMIM:250410 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial... |
OMIM:261740 |
| Craniofaciofrontodigital Syndrome |
|
Aortic valve stenosis, Abnormal heart valve morphology, Ventricular septal defect, Cardiomegaly, ... |
ORPHA:363705 |
| Amyloidosis, Hereditary Systemic 1 |
|
Urinary incontinence, Cardiomegaly, Cardiomyopathy |
OMIM:105210 |
| Beck-Fahrner Syndrome |
|
Cardiomegaly, Ventricular septal defect |
OMIM:618798 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
| Congenital Disorder Of Glycosylation, Type It |
|
Dilated cardiomyopathy, Ventricular septal defect, Hydronephrosis, Cardiomegaly, Hepatomegaly |
OMIM:614921 |
| Parathyroid Carcinoma |
|
Nephrocalcinosis, Renal hamartoma, Renal insufficiency, Nephroblastoma, Nephrolithiasis, Renal cy... |
ORPHA:143 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Vaginal atresia, Multicystic kidney dysplasia, Cryptorchidism |
ORPHA:3301 |
| Smith-Lemli-Opitz Syndrome |
|
Small scrotum, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Hepatomegaly, Dup... |
OMIM:270400 |
| Fryns Syndrome |
|
Renal agenesis, Bifid scrotum, Cryptorchidism, Ventricular septal defect, Hydronephrosis, Renal c... |
OMIM:229850 |
| Distal Deletion 15Q |
|
Hypoplastic left heart, Multicystic kidney dysplasia, Double outlet right ventricle with doubly c... |
ORPHA:1596 |
| Complete Atrioventricular Septal Defect |
|
Primum atrial septal defect, Displacement of the papillary muscles, Abnormal cardiac atrium morph... |
ORPHA:1329 |
| Danon Disease |
|
Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Myocardia... |
OMIM:300257 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Multicystic kidney dysplasia, Dilated cardiomyopathy, Hydroureter, Urinary retention, Ureterocele... |
ORPHA:79404 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Oligosacchariduria, Hypertrophic cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Hepa... |
ORPHA:308552 |
| Peroxisome Biogenesis Disorder 1B |
|
Hepatomegaly, Renal cyst, Hyperoxaluria |
OMIM:601539 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Histiocytoid Cardiomyopathy |
|
Ventricular septal defect, Cardiomegaly, Renal cyst, Polycystic ovaries, Hepatomegaly |
ORPHA:137675 |
| Floating-Harbor Syndrome |
|
Varicocele, Nephrocalcinosis, Glandular hypospadias, Cryptorchidism, Mesocardia, Hydronephrosis, ... |
OMIM:136140 |
| Meckel Syndrome, Type 2 |
|
Renal cyst |
OMIM:603194 |
| Thauvin-Robinet-Faivre Syndrome |
|
Bifid ureter, Mitral valve prolapse, Ventricular septal defect, Nephroblastoma, Renal cyst, Renal... |
OMIM:617107 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Precocious puberty, Labial hypertrophy, Cryptorchidism, Ventricular septal defect, Cardiomegaly, ... |
ORPHA:96191 |
| Kaposiform Lymphangiomatosis |
|
Hepatosplenomegaly, Splenomegaly, Multiple renal cysts, Pericardial effusion, Pancreatic cysts, E... |
ORPHA:464329 |
| Naxos Disease |
|
Dilated cardiomyopathy, Abnormal heart morphology, Right ventricular cardiomyopathy, Cardiomegaly... |
OMIM:601214 |
| Khan-Khan-Katsanis Syndrome |
|
Renal hypoplasia, Vesicoureteral reflux, Patent foramen ovale, Hydronephrosis, Renal cyst, Ureter... |
OMIM:618460 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Cardiomegaly, Pollakisuria, Right ventricular hypertrophy |
ORPHA:268 |
| Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Renal cyst, Mitral stenosis, Renal dysplasia |
OMIM:617260 |
| Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Cardiomegaly, Cryptorchidism |
OMIM:618143 |
| Alveolar Echinococcosis |
|
Abnormal pericardium morphology, Hepatic cysts, Abnormal bladder morphology, Renal cyst, Pancreat... |
ORPHA:284 |
| Lymphangioleiomyomatosis |
|
Abnormal morphology of female internal genitalia, Abnormal urinary color, Hematuria, Renal angiom... |
ORPHA:538 |
| Mody |
|
Nephropathy, Renal cyst, Glycosuria, Abnormality of the kidney |
ORPHA:552 |
| Beckwith-Wiedemann Syndrome |
|
Nephropathy, Visceromegaly, Hypertrophic cardiomyopathy, Vesicoureteral reflux, Cryptorchidism, S... |
ORPHA:116 |
| Townes-Brocks Syndrome |
|
Renal hypoplasia, Rectovaginal fistula, Abnormal vagina morphology, Abnormality of the uterus, Bi... |
ORPHA:857 |
| Short-Rib Thoracic Dysplasia 12 |
|
Renal hypoplasia, Splenomegaly, Patent foramen ovale, Ventricular septal defect, Ambiguous genita... |
OMIM:269860 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Renal cyst, Renal hypoplasia, Ambiguous genitalia, Cryptorchidism |
OMIM:616300 |
| Meckel Syndrome |
|
Multicystic kidney dysplasia, Situs inversus totalis, Cryptorchidism, True hermaphroditism, Male ... |
ORPHA:564 |
| 2P15P16.1 Microdeletion Syndrome |
|
Hydronephrosis, Decreased testicular size, Multicystic kidney dysplasia, Hypogonadism |
ORPHA:261349 |
| Autosomal Recessive Robinow Syndrome |
|
Multicystic kidney dysplasia, Hypoplastic female external genitalia, Tetralogy of Fallot, Abnorma... |
ORPHA:1507 |
| Attenuated Familial Adenomatous Polyposis |
|
Multiple renal cysts, Uterine leiomyoma |
ORPHA:220460 |
| Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology |
ORPHA:1517 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Vesicoureteral reflux, Cryptorchidism, Patent foramen ovale, Ventricular septal defect, Renal cys... |
OMIM:616975 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Secundum atrial septal defect, Partial atrioventricular canal defect, Ventricular septal defect, ... |
OMIM:620066 |
| Lethal Congenital Contracture Syndrome 10 |
|
Cardiomegaly, Overriding aorta, Ventricular septal defect |
OMIM:617022 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Mitral valve prolapse, Patent foramen ovale, Cardiomegaly, Bicuspid aortic valve, Left ventricula... |
OMIM:245600 |
| Branchio-Oculo-Facial Syndrome |
|
Hydronephrosis, Multicystic kidney dysplasia, Renal agenesis |
ORPHA:1297 |
| Simpson-Golabi-Behmel Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Cardiomyopathy, Cryptorchidism, Splenomegaly, Ventricu... |
ORPHA:373 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Splenomegaly |
OMIM:608013 |
| Joubert Syndrome With Hepatic Defect |
|
Nephropathy, Multicystic kidney dysplasia, Renal insufficiency, Splenomegaly, Hepatomegaly |
ORPHA:1454 |
| Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Renal cyst |
OMIM:615560 |
| Glycogen Storage Disease Ii |
|
Urinary incontinence, Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:232300 |
| 1P36 Deletion Syndrome |
|
Dilated cardiomyopathy, Abnormal female external genitalia morphology, Hypogonadism, Abnormal hea... |
ORPHA:1606 |
| Focal Dermal Hypoplasia |
|
Multicystic kidney dysplasia, Horseshoe kidney, Ventricular septal defect, Hydronephrosis, Renal ... |
ORPHA:2092 |
| Radio-Renal Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia |
ORPHA:3015 |
| Fucosidosis |
|
Oligosacchariduria, Splenomegaly, Cardiomegaly, Hepatomegaly, Glycopeptiduria |
OMIM:230000 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypocalciuria, Multiple small medullary renal cysts, Renal insufficiency, Nephrolithiasis, Parath... |
OMIM:600740 |
| Mucopolysaccharidosis Type 3 |
|
Heparan sulfate excretion in urine, Urinary glycosaminoglycan excretion, Splenomegaly, Abnormal m... |
ORPHA:581 |
| Interatrial Communication |
|
Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Sinus venosus atrial s... |
ORPHA:1478 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Multicystic kidney dysplasia, Vaginal neoplasm, Nephroblastoma, Ambiguous genitalia, Subvalvular ... |
ORPHA:1052 |
| Bardet-Biedl Syndrome |
|
Chronic kidney disease, Aplasia/Hypoplasia of the vagina, Cardiomyopathy, Hydrometrocolpos, Horse... |
ORPHA:110 |
| Smith-Lemli-Opitz Syndrome |
|
Abnormal localization of kidney, Multicystic kidney dysplasia, Clitoral hypertrophy, Atrioventric... |
ORPHA:818 |
| Lethal Acantholytic Erosive Disorder |
|
Cardiomegaly, Cardiomyopathy |
ORPHA:158687 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Acute kidney injury, Nephronophthisis, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduce... |
OMIM:266920 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Chronic kidney disease, Nephritis, Renal insufficiency, Proteinuria, Renal cyst, Pancreatic cysts |
OMIM:208500 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Cryptorchidism, Pa... |
OMIM:300967 |
| Williams Syndrome |
|
Cryptorchidism, Mitral valve prolapse, Polycystic ovaries, Ventricular septal defect, Bicuspid ao... |
ORPHA:904 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Abnormal right ventricle morphology, Bifid ureter, Mitral valve pro... |
ORPHA:500095 |
| 2Q37 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Nephroblastoma |
ORPHA:1001 |
| Immunodeficiency 96 |
|
Multicystic kidney dysplasia |
OMIM:619774 |
| Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Hypospadias, Absent scrotum, Cryptorchidism, Renal cyst, Absence of labia majora, Hypoplastic lab... |
ORPHA:495875 |
| Townes-Brocks Syndrome 1 |
|
Renal hypoplasia, Multicystic kidney dysplasia, Rectovaginal fistula, Bifid scrotum, Tetralogy of... |
OMIM:107480 |
| Mucolipidosis Ii Alpha/Beta |
|
Hypertrophic cardiomyopathy, Splenomegaly, Cardiomegaly, Mucopolysacchariduria, Hepatomegaly, Enl... |
OMIM:252500 |
| Congenital Tracheomalacia |
|
Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Atrial s... |
ORPHA:95430 |
| Schinzel-Giedion Syndrome |
|
Abnormal heart morphology, Abnormality of the ureter, Streak ovary, Nephroblastoma, Nephrolithias... |
ORPHA:798 |
| Joubert Syndrome 1 |
|
Nephropathy, Renal cyst |
OMIM:213300 |
| Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Enlarged kidney, Cystic renal dysplasia |
OMIM:200995 |
| Tetrasomy 9P |
|
Recurrent urinary tract infections, Horseshoe kidney, Cryptorchidism, Abnormal mitral valve morph... |
ORPHA:3310 |
| Pearson Syndrome |
|
Glycosuria, Cardiomyopathy, Abnormal heart morphology, Renal insufficiency, Splenomegaly, Protein... |
ORPHA:699 |
| Absence Of The Pulmonary Artery |
|
Abnormal heart morphology, Tetralogy of Fallot, Patent foramen ovale, Truncus arteriosus, Cardiom... |
ORPHA:980 |
| D-Bifunctional Protein Deficiency |
|
Hepatomegaly, Renal cyst, Splenomegaly |
OMIM:261515 |
| Cranioectodermal Dysplasia 2 |
|
Renal insufficiency, Splenomegaly, Patent foramen ovale, Renal cyst, Left ventricular hypertrophy... |
OMIM:613610 |
| Truncus Arteriosus |
|
Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morphology, Truncus arterios... |
ORPHA:3384 |
| Neuromuscular Oculoauditory Syndrome |
|
Reduced renal corticomedullary differentiation, Multiple renal cysts |
OMIM:618733 |
| Jacobsen Syndrome |
|
Aortic valve stenosis, Hypoplastic left heart, Multicystic kidney dysplasia, Cryptorchidism, Vent... |
ORPHA:2308 |
| Trisomy 10P |
|
Abnormal heart morphology, Rectovaginal fistula, Multiple renal cysts, Abnormality of the kidney |
ORPHA:171929 |
| Yunis-Varon Syndrome |
|
Clitoral hypertrophy, Cardiomyopathy, Tetralogy of Fallot, Renal artery stenosis, Cryptorchidism,... |
ORPHA:3472 |
| Alagille Syndrome 1 |
|
Focal segmental glomerulosclerosis, Renal hypoplasia, Multiple small medullary renal cysts, Tetra... |
OMIM:118450 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Cardiomegaly |
ORPHA:2463 |
| Hajdu-Cheney Syndrome |
|
Aortic valve stenosis, Mitral stenosis, Splenomegaly, Ventricular septal defect, Multiple renal c... |
ORPHA:955 |
| Cerebrocostomandibular Syndrome |
|
Horseshoe kidney, Ventricular septal defect, Renal cyst, Atrial septal defect, Ectopic kidney |
OMIM:117650 |
| Liver Disease, Severe Congenital |
|
Aminoaciduria, Recurrent urinary tract infections, Hyperechogenic kidneys, Dilatation of the vent... |
OMIM:619991 |
| Peters Plus Syndrome |
|
Hypoplastic left heart, Multicystic kidney dysplasia, Cryptorchidism, Renal duplication, Renal hy... |
ORPHA:709 |
| Bohring-Opitz Syndrome |
|
Cardiomegaly, Nephroblastoma, Urinary retention, Abnormal cardiac septum morphology |
ORPHA:97297 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Cardiomegaly, Cryptorchidism, Patent foramen ovale |
OMIM:620371 |
| Genitopatellar Syndrome |
|
Small scrotum, Multicystic kidney dysplasia, Clitoral hypertrophy, Enlarged labia minora, Cryptor... |
OMIM:606170 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Cardiomegaly, Hepatomegaly, Right atrial enlargement, Atrial septal dilatation, Right ventricular... |
ORPHA:1677 |
| Autoinflammatory Disease, Systemic, With Vasculitis |
|
Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Hepatomegaly, Epididymitis, Congenital hydrocele |
OMIM:620376 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Total anomalous pulmonary venous return, Duplication of renal pelvis, Cardiomyopathy, Cryptorchid... |
OMIM:312870 |
| Atelosteogenesis Type I |
|
Multiple renal cysts |
ORPHA:1190 |
| Joubert Syndrome 21 |
|
Renal cyst, Splenomegaly, Hyperechogenic kidneys |
OMIM:615636 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Aminoaciduria, Nephrocalcinosis, Oligosacchariduria, Azoospermia, Renal insufficiency, Cryptorchi... |
ORPHA:534 |
| Aicardi-Goutières Syndrome |
|
Micropenis, Hepatosplenomegaly, Cardiomegaly, Hypertrophic cardiomyopathy |
ORPHA:51 |
| Cerebrocostomandibular Syndrome |
|
Multicystic kidney dysplasia, Ventricular septal defect |
ORPHA:1393 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Oligosacchariduria, Hypertrophic cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Hepa... |
ORPHA:365 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Renal hypoplasia, Uterus didelphys, Cryptorchidism, Hydronephrosis, Renal cyst, Ambiguous genital... |
ORPHA:93271 |
| Cutis Marmorata Telangiectatica Congenita |
|
Multicystic kidney dysplasia, Displacement of the urethral meatus |
ORPHA:1556 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatomegaly, Ventricular hypertrophy, Hepatosplenomegaly, Cardiomegaly |
OMIM:618278 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous... |
ORPHA:99125 |
| Osteopathia Striata With Cranial Sclerosis |
|
Multicystic kidney dysplasia, Atrial septal defect, Ventricular septal defect |
OMIM:300373 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Cardiomegaly, Bicuspid aortic valve |
ORPHA:91387 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Abetalipoproteinemia |
|
Hepatomegaly, Cardiomegaly |
ORPHA:14 |
| Cornelia De Lange Syndrome |
|
Multicystic kidney dysplasia, Abnormality of the uterus, Vesicoureteral reflux, Renal insufficien... |
ORPHA:199 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Hydronephrosis, Decreased testicular size, Multicystic kidney dysplasia, Micropenis |
OMIM:615287 |
| C Syndrome |
|
Multicystic kidney dysplasia, Horseshoe kidney, Female pseudohermaphroditism, Cryptorchidism, Ren... |
ORPHA:1308 |
| Orofaciodigital Syndrome Type 1 |
|
Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Hydronephrosis, Pancreatic cysts |
ORPHA:2750 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hepatomegaly, Splenomegaly, Cardiomegaly, Epididymitis |
OMIM:256040 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Webbed penis, Aortic valve stenosis, Multicystic kidney dysplasia, Bifid scrotum, Abnormal heart ... |
ORPHA:261537 |
| Tropical Endomyocardial Fibrosis |
|
Restrictive cardiomyopathy, Endocardial fibrosis, Coronary artery stenosis, Right ventricular car... |
ORPHA:75565 |
| Mowat-Wilson Syndrome |
|
Aortic valve stenosis, Multicystic kidney dysplasia, Cryptorchidism, Bicuspid aortic valve, Chord... |
ORPHA:2152 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Renal cyst |
OMIM:272460 |
| Proteus Syndrome |
|
Long penis, Splenomegaly, Enlarged polycystic ovaries, Renal cyst, Testicular neoplasm, Macroorch... |
ORPHA:744 |
| Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Nephrocalcinosis, Cortical nephrocalcinosis, Medullary nephrocalcinosis,... |
ORPHA:51608 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Aortic valve stenosis, Multicystic kidney dysplasia, Cryptorchidism, Ventricular septal defect, B... |
ORPHA:261552 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal agenesis, Cryptorchidism, Atrial s... |
OMIM:308205 |
| Pallister-Killian Syndrome |
|
Aortic valve stenosis, Small scrotum, Hypertrophic cardiomyopathy, Cryptorchidism, Ventricular se... |
OMIM:601803 |
| Branchiooculofacial Syndrome |
|
Renal cyst, Renal agenesis, Hypospadias, Cryptorchidism |
OMIM:113620 |
| Singleton-Merten Syndrome 1 |
|
Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Mitral valve calcification, Subv... |
OMIM:182250 |
| Pmm2-Cdg |
|
Hyperplastic labia majora, Hypertrophic cardiomyopathy, Decreased testicular size, Aplasia of the... |
ORPHA:79318 |
| Craniofacial Microsomia 1 |
|
Multicystic kidney dysplasia, Renal agenesis, Tetralogy of Fallot, Vesicoureteral reflux, Uretero... |
OMIM:164210 |
