Genitopalatocardiac Syndrome |
|
Double outlet right ventricle, Hypospadias, Ventricular septal defect, Renal cyst, Transposition ... |
OMIM:231060 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Dextrocardia, Atrioventricular canal defect, Right aortic arch with mirror image branching, Pulmo... |
OMIM:606217 |
Polycystic Kidney Disease 5 |
|
Polycystic kidney dysplasia, Hyperechogenic kidneys, Stage 5 chronic kidney disease |
OMIM:617610 |
Nephronophthisis 16 |
|
Aortic valve stenosis, Nephronophthisis, Pulmonic stenosis, Enlarged kidney, Situs inversus total... |
OMIM:615382 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Coarctation of aorta, Perimembranous ventricular septal defect |
OMIM:212090 |
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities |
|
Duplicated collecting system, Hydronephrosis |
OMIM:163850 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Pulmonic stenosis, Double aortic arch, Tetralogy of Fallot, Pulmo... |
OMIM:618780 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Renal hypoplasia/aplasia, Multiple renal cysts, Tetralogy of Fallot, Ventricular septal defect, A... |
ORPHA:1166 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect, Pulmonary artery atresia |
OMIM:178370 |
Nephronophthisis 14 |
|
Situs inversus totalis, Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Secundum atrial septal defect, Pulmonic stenosis, Single ventricle... |
OMIM:613854 |
Autosomal Dominant Coarctation Of Aorta |
|
Hypoplastic left heart, Ventricular septal defect, Aortic arch aneurysm, Abnormal aortic arch mor... |
ORPHA:1455 |
Distal Trisomy 14Q |
|
Abnormality of the upper urinary tract, Patent ductus arteriosus, Abnormal aortic morphology, Abn... |
ORPHA:1705 |
Pulmonary Atresia With Intact Ventricular Septum |
|
Hypoplastic right heart, Pulmonary artery atresia |
OMIM:265150 |
Tricuspid Atresia |
|
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Pulmonary artery atresia, Ventricu... |
ORPHA:1209 |
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation |
|
Right aortic arch with mirror image branching |
OMIM:107500 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Polycystic kidney dysplasia, Vascular dilatation |
OMIM:614859 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Polycystic kidney dysplasia, Dilatation of the cerebral artery, Hepatic cysts |
OMIM:600666 |
Heart Defects-Limb Shortening Syndrome |
|
Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormality of... |
ORPHA:1354 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Cerebral berry aneurysm, Hepatic cysts, Mitral valve prolapse, Polycystic kidney dysplasia, Renal... |
OMIM:173900 |
Aorta Coarctation |
|
Bicuspid aortic valve, Stroke, Hypoplastic left heart, Aortic valve atresia, Coarctation of the d... |
ORPHA:1457 |
RCAD (renal cysts and diabetes) |
|
Multiple renal cysts |
DECIPHER:47 |
Renal Hypodysplasia/Aplasia 3 |
|
Renal agenesis, Multicystic kidney dysplasia, Renal dysplasia, Horseshoe kidney, Hydronephrosis, ... |
OMIM:617805 |
Heterotaxy, Visceral, 4, Autosomal |
|
Atrioventricular canal defect, Dextrotransposition of the great arteries, Pulmonary artery atresi... |
OMIM:613751 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Cystic renal dysplasia, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Vesicourete... |
OMIM:601331 |
Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... |
OMIM:613424 |
Renal Tubular Dysgenesis |
|
Nephropathy, Renotubular dysgenesis, Multiple renal cysts, Tetralogy of Fallot, Pulmonary hypopla... |
ORPHA:3033 |
Heterotaxy, Visceral, 12, Autosomal |
|
Single coronary artery origin, Ventricular septal defect, Double outlet right ventricle, Left sup... |
OMIM:619702 |
Congenital Heart Defects, Multiple Types, 4 |
|
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort... |
OMIM:615779 |
Nephronophthisis 20 |
|
Renal cyst, Renal insufficiency, Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:617271 |
Coarctation Of Aorta |
|
Coarctation of aorta, Hypoplastic left heart |
OMIM:120000 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Renal cyst, Vesicoureteral reflux, Ectopic kidney, Hydronephrosis |
OMIM:618270 |
Pulmonary Atresia-Intact Ventricular Septum Syndrome |
|
Abnormal tricuspid valve morphology, Patent ductus arteriosus, Pulmonary artery atresia |
ORPHA:1208 |
Bardet-Biedl Syndrome 16 |
|
Renal agenesis, Abnormality of the kidney, Renal dysplasia, Bronchiolitis, Renal cyst, Renal insu... |
OMIM:615993 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction |
OMIM:615092 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta |
ORPHA:228190 |
Indomethacin Embryofetopathy |
|
Atrial septal defect, Abnormal renal tubule morphology, Multicystic kidney dysplasia, Nephropathy... |
ORPHA:1909 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Overriding aorta, Vasc... |
OMIM:601927 |
Megabladder, Congenital |
|
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Hyper... |
OMIM:618719 |
Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
Heterotaxy, Visceral, 8, Autosomal |
|
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... |
OMIM:617205 |
Heterotaxy, Visceral, 6, Autosomal |
|
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... |
OMIM:614779 |
Bardet-Biedl Syndrome 10 |
|
Abnormality of the kidney, Renal cyst, Renal insufficiency |
OMIM:615987 |
8P23.1 Duplication Syndrome |
|
Pulmonic stenosis, Ventricular septal defect, Hydronephrosis, Tetralogy of Fallot |
ORPHA:251076 |
Diabetic Embryopathy |
|
Renal hypoplasia/aplasia, Micropenis, Ureteral duplication, Tetralogy of Fallot, Ventricular sept... |
ORPHA:1926 |
Cayler Cardiofacial Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot |
OMIM:125520 |
Meckel Syndrome, Type 11 |
|
Polycystic kidney dysplasia |
OMIM:615397 |
Renal Caliceal Diverticuli-Deafness Syndrome |
|
Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Abnormality of th... |
ORPHA:2838 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Tricuspid atresia, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Partial ... |
OMIM:617478 |
Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... |
OMIM:604169 |
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Ventricular septal defect, Renal cyst, Renal hypoplasia, Truncus arteriosus |
OMIM:228940 |
Long Qt Syndrome 16 |
|
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect |
OMIM:618782 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Atrial septal defect, Hypoplastic left heart, Abnormal descending aorta morphology, Anomalous ori... |
ORPHA:99050 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta |
OMIM:604381 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... |
ORPHA:860 |
Fibromuscular Dysplasia, Arterial |
|
Aortic dissection, Stroke, Arterial fibromuscular dysplasia, Renovascular hypertension |
OMIM:135580 |
Congenital Primary Megaureter |
|
Nephrolithiasis, Congenital megaureter, Abnormal penis morphology, Abnormality of the upper urina... |
ORPHA:617 |
Heterotaxy, Visceral, 7, Autosomal |
|
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Right ao... |
OMIM:616749 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Abnormal renal morpho... |
ORPHA:477817 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Stroke, Nephropathy, Hematuria, Renal cyst, Dilatation of the cerebral artery, Vascular dilatatio... |
OMIM:611773 |
Congenital Megacalycosis |
|
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... |
ORPHA:93109 |
Alagille Syndrome 2 |
|
Peripheral pulmonary artery stenosis, Renal tubular acidosis, Atrial septal defect, Pulmonic sten... |
OMIM:610205 |
Igg4-Related Aortitis |
|
Thoracic aortic aneurysm, Abnormal common carotid artery morphology, Abnormal aortic arch morphol... |
ORPHA:449400 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Myofiber disarray, Left ventricular noncompaction, Left ventricular hypertrophy, Endocardial fibr... |
OMIM:612158 |
Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Coarctation of aorta, Hypoplastic left heart |
OMIM:241550 |
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Pulmonic stenosis, Hydroureter, Hydronephrosis |
OMIM:264140 |
Microphthalmia, Syndromic 9 |
|
Agenesis of pulmonary vessels, Atrial septal defect, Pulmonic stenosis, Single ventricle, Bilater... |
OMIM:601186 |
Hanac Syndrome |
|
Renal insufficiency, Hematuria, Multiple renal cysts |
ORPHA:73229 |
Ciliary Dyskinesia, Primary, 40 |
|
Atrioventricular canal defect, Unbalanced atrioventricular canal defect, Situs inversus totalis, ... |
OMIM:618300 |
Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
Distal Tetrasomy 15Q |
|
Atrial septal defect, Abnormality of the kidney, Nephroblastoma, Polycystic kidney dysplasia, Pul... |
ORPHA:314588 |
2p15-16.1 microdeletion syndrome |
|
Hydronephrosis |
DECIPHER:70 |
Aorto-Ventricular Tunnel |
|
Abnormal coronary artery morphology, Aorto-ventricular tunnel, Aortic root aneurysm, Ventricular ... |
ORPHA:3400 |
Meacham Syndrome |
|
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... |
OMIM:608978 |
Atrial Septal Defect 4 |
|
Patent foramen ovale, Atrial septal defect, Coarctation of aorta |
OMIM:611363 |
Waardenburg Syndrome Type 2 |
|
Abnormality of the kidney, Abnormality of the pulmonary artery |
ORPHA:895 |
Cystic Hamartoma Of Lung And Kidney |
|
Multicystic kidney dysplasia, Pulmonary fibrosis, Recurrent respiratory infections |
ORPHA:2111 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Ventricular septal defect, Atrial septal defect, Vascular ring |
OMIM:603387 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Double outlet right ventricle, Atrial septal defect, Pulmonic stenosis, Tetralogy of Fallot, Pate... |
ORPHA:3304 |
Ventricular Septal Defect 3 |
|
Ventricular septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal defect |
OMIM:614432 |
Cardiomyopathy, Dilated, 1Gg |
|
Left ventricular noncompaction, Dilated cardiomyopathy |
OMIM:613642 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Left ventricular hypertrophy, Endocardial fibrosis, Left ventricular nonc... |
OMIM:601493 |
Aortic Aneurysm, Familial Thoracic 7 |
|
Descending aortic dissection, Ascending aortic dissection, Aortic rupture, Aortic aneurysm |
OMIM:613780 |
Meckel Syndrome 13 |
|
Polycystic kidney dysplasia |
OMIM:617562 |
Catel-Manzke Syndrome |
|
Ventricular septal defect, Dextrocardia, Overriding aorta, Coarctation of aorta |
OMIM:616145 |
Thomas Syndrome |
|
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Hypoplastic left heart |
ORPHA:3316 |
Hypoplastic Left Heart Syndrome |
|
Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Mitral atresia, Patent ductus arte... |
ORPHA:2248 |
Truncus Arteriosus |
|
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, Pu... |
ORPHA:3384 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Abnormal aortic arch morphology, Arteriovenous malformation, Overriding aorta |
ORPHA:1110 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Atrial septal defect, Muscular ventricular septal defect, Unilateral renal agenesis, Micropenis, ... |
ORPHA:363444 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot |
OMIM:601127 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Absence of renal corticomedullary differentiation, Hepatic cysts, Tubulointerstitial fibrosis, En... |
OMIM:263200 |
Cardiomyopathy, Dilated, 1S |
|
Bicuspid aortic valve, Left ventricular noncompaction, Coarctation of aorta, Pulmonary artery hyp... |
OMIM:613426 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Ventricular septal defect, Left superior vena cava draining directly to the left atrium, Pulmonar... |
OMIM:613759 |
Ciliary Dyskinesia, Primary, 37 |
|
Bronchiectasis, Dextrocardia, Right aortic arch, Situs inversus totalis |
OMIM:617577 |
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Abnormality of the urinary system, Hydronephrosis |
ORPHA:2669 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Nephrolithiasis, Nephroblastoma, Renal cortical adenoma, Papillary renal cell carcinoma, Polycyst... |
OMIM:145001 |
Ring Chromosome 8 Syndrome |
|
Abnormality of the ureter, Hydronephrosis |
ORPHA:1450 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Right aortic arch, Coarctation of aorta |
OMIM:140850 |
Autosomal Dominant Polycystic Kidney Disease |
|
Nephrolithiasis, Chronic kidney disease, Decreased glomerular filtration rate, Abnormal urinary e... |
ORPHA:730 |
Mungan Syndrome |
|
Pulmonic stenosis, Renal hypoplasia, Vesicoureteral reflux, Perimembranous ventricular septal defect |
OMIM:611376 |
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Renal angiomyolipoma, Polycystic kidney dysplasia |
OMIM:600273 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Recurrent urinary tract infections, Multiple renal cysts, Hepatic cysts, Situs inversus totalis, ... |
OMIM:613095 |
Left Ventricular Noncompaction 10 |
|
Left ventricular noncompaction, Dilated cardiomyopathy |
OMIM:615396 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Congenital megaureter, Hydroureter, Hyperechogenic kidneys, Renal dysplasia, Ureteropelvic juncti... |
OMIM:143400 |
Cleft Palate, Cardiac Defects, And Mental Retardation |
|
Atrial septal defect, Secundum atrial septal defect, Coarctation of aorta, Ventricular septal def... |
OMIM:600987 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Chronic kidney disease, Nephropathy, Focal segmental glomerulosclerosis, Renal cyst, Vascular dil... |
OMIM:617056 |
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies |
|
Renal cyst |
OMIM:138790 |
Fadd-Related Immunodeficiency |
|
Ventricular septal defect, Pulmonary artery atresia |
ORPHA:306550 |
Immunodeficiency, Common Variable, 6 |
|
Mesangial Immune complex deposition, Nephrotic range proteinuria, Macroscopic hematuria, Enlarged... |
OMIM:613496 |
Aortic Aneurysm, Familial Thoracic 8 |
|
Ascending aortic dissection, Abdominal aortic aneurysm, Coronary artery aneurysm, Coronary artery... |
OMIM:615436 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Recurrent lower respiratory tract infections, Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Ventricular septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot |
OMIM:617992 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Bicuspid aortic valve, Posterior cerebral artery stenosis, Stroke, Thoracic aortic aneurysm, Coro... |
OMIM:132900 |
Isolated Polycystic Liver Disease |
|
Vascular dilatation, Multiple renal cysts |
ORPHA:2924 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Left ventricular noncompaction, Hypertrophic cardiomyopathy, Patent ductus arteriosus |
OMIM:616501 |
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Interrupted aortic arch, Coarctation of aorta |
OMIM:107550 |
22Q11.2 Duplication Syndrome |
|
Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Urethral stenosis, Transp... |
ORPHA:1727 |
Lethal Congenital Contracture Syndrome 10 |
|
Ventricular septal defect, Overriding aorta, Pulmonary hypoplasia, Cardiomegaly |
OMIM:617022 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Hypoplastic tricuspid valve, Atrial septal defect, Pulmonic stenosis, Total absence of the perica... |
OMIM:600001 |
Familial Aortic Dissection |
|
Carotid artery dilatation, Peripheral arterial stenosis, Stroke, Mucoid extracellular matrix accu... |
ORPHA:229 |
Congenital Tracheomalacia |
|
Atrial septal defect, Single ventricle, Double aortic arch, Recurrent upper respiratory tract inf... |
ORPHA:95430 |
Vesicoureteral Reflux 3 |
|
Hydroureter, Vesicoureteral reflux, Hydronephrosis |
OMIM:613674 |
Klippel-Trénaunay Syndrome |
|
Peripheral arteriovenous fistula, Atrial septal defect, Hematuria, Patent ductus arteriosus, Abno... |
ORPHA:90308 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Coarctation of aorta, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, ... |
OMIM:610338 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Left ventricular noncompaction, Hypertrophic cardiomyopathy |
OMIM:617228 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Premature coronary artery atherosclerosis, Thoracic aortic aneurysm, Ascending aortic dissection,... |
OMIM:611788 |
Prune Belly Syndrome |
|
Urogenital sinus anomaly, Atrial septal defect, Abnormality of the ureter, Recurrent urinary trac... |
ORPHA:2970 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Aortic valve stenosis, Pulmonic stenosis, Cystic renal dysplasia, Enlarged kidney, Situs inversus... |
OMIM:615415 |
Congenital Disorder Of Glycosylation, Type Il |
|
Abnormal cardiac septum morphology, Polycystic kidney dysplasia, Pericardial effusion |
OMIM:608776 |
Laubry-Pezzi Syndrome |
|
Bicuspid aortic valve, Abnormal aortic valve cusp morphology, Left ventricular hypertrophy, Abnor... |
ORPHA:99094 |
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia |
|
Ventricular septal defect, Hypoplastic right heart, Tetralogy of Fallot |
OMIM:601348 |
Cardiac Valvular Dysplasia 1 |
|
Tricuspid valve prolapse, Mitral stenosis, Tricuspid atresia, Hydroureter, Urethral diverticulum,... |
OMIM:212093 |
Left Ventricular Noncompaction 8 |
|
Left ventricular noncompaction, Dilated cardiomyopathy |
OMIM:615373 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Abnormal heart morphology, Polycystic kidney dysplasia, Pulmonary hypoplasia, Abnormal lung lobation |
OMIM:263210 |
Dextrocardia |
|
Congenital malformation of the great arteries, Abnormality of the ureter, Abnormal renal morpholo... |
ORPHA:1666 |
Hadziselimovic Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Pulmonary artery atresia, Ventricular septal defect, R... |
OMIM:612946 |
Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of ... |
OMIM:614980 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:2091 |
Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Pulmonary hypoplasia, Renal dysplasia |
ORPHA:3032 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Aortic valve stenosis, Atrial septal defect, Enlarged kidney, Situs inversus totalis, Hepatic cys... |
OMIM:208540 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Atrioventricular canal defect, Enlarged kidney, Transposition of the great arte... |
OMIM:314390 |
Hepatorenocardiac Degenerative Fibrosis |
|
Reduced renal corticomedullary differentiation, Hyperechogenic kidneys, Enlarged kidney, Renal cy... |
OMIM:619902 |
Velocardiofacial Syndrome |
|
Unilateral primary pulmonary dysgenesis, Double aortic arch, Tetralogy of Fallot, Pulmonary arter... |
OMIM:192430 |
Urofacial Syndrome 2 |
|
Bladder trabeculation, Spastic/hyperactive bladder, Recurrent urinary tract infections, Urinary u... |
OMIM:615112 |
Ritscher-Schinzel Syndrome 1 |
|
Double outlet right ventricle, Aortic valve stenosis, Atrial septal defect, Hypoplastic left hear... |
OMIM:220210 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Abnormal cardiac septum morphology, Bilateral lung agenesis, Patent ductus arteriosus, Coarctatio... |
OMIM:601612 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Pulmonary arter... |
OMIM:108900 |
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome |
|
Abnormality of the pulmonary artery |
ORPHA:1065 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Atrial septal defect, Pulmonary artery atresia, Ventricular septal defect, Ectopic kidney, Truncu... |
ORPHA:401935 |
Renal Hypoplasia |
|
Chronic kidney disease, Abnormal renal tubule morphology, Unilateral renal agenesis, Abnormality ... |
ORPHA:93101 |
Campomelia, Cumming Type |
|
Polycystic kidney dysplasia, Pancreatic cysts |
OMIM:211890 |
Epidermal Nevus Syndrome |
|
Polycystic kidney dysplasia, Aortic aneurysm |
ORPHA:35125 |
Trisomy 17P |
|
Aortic valve stenosis, Hypoplasia of penis, Hypoplastic left heart, Polycystic kidney dysplasia, ... |
ORPHA:261290 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Flexion contracture, Short stature, Left ventricular noncompaction, Increased intramyocellular li... |
OMIM:252011 |
Hinman Syndrome |
|
Recurrent urinary tract infections, Renal insufficiency, Hydronephrosis, Enuresis, Vesicoureteral... |
ORPHA:84085 |
Macdermot-Winter Syndrome |
|
Hydronephrosis |
OMIM:247990 |
Johnson Neuroectodermal Syndrome |
|
Ventricular septal defect, Right aortic arch, Patent ductus arteriosus, Micropenis |
OMIM:147770 |
Right Atrial Isomerism |
|
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... |
OMIM:208530 |
Scimitar Syndrome |
|
Tricuspid atresia, Pulmonary sequestration, Anomalous pulmonary venous return, Ventricular septal... |
ORPHA:185 |
Dysmyelination With Jaundice |
|
Hydroureter, Hypoplasia of penis, Hydronephrosis |
OMIM:224250 |
Congenital Heart Defects, Multiple Types, 5 |
|
Double outlet right ventricle, Bicuspid aortic valve, Aortic valve stenosis, Atrial septal defect... |
OMIM:617912 |
Congenital Rubella Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Abnormality of the pulmonary artery, Atrial ... |
ORPHA:290 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Renal hypoplasia/aplasia, Renal agenesis, Abnormal lung lobation, Ventricular septal defect, Abno... |
ORPHA:2516 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Double outlet right ventricle, Micropenis, Renal agenesis, Pulmonary artery hypoplasia, Anomalous... |
ORPHA:2326 |
Phaver Syndrome |
|
Myelomeningocele, Coarctation of aorta, Pulmonary artery atresia, Ventricular septal defect, Hypo... |
ORPHA:2876 |
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 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Pulmonic stenosis, Transposition of the great arteries, Perimembranous ventricular septal defect |
OMIM:617877 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Ventricular septal defect, Abnormal aortic valve cusp morphology, Abnormal heart morphology, Righ... |
ORPHA:216694 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Renal insufficiency, Cardiomyopathy, Abnormal aortic morphology |
ORPHA:3222 |
Supravalvular Aortic Stenosis |
|
Pulmonic stenosis, Peripheral arterial stenosis, Pulmonary artery stenosis |
OMIM:185500 |
Femoral-Facial Syndrome |
|
Renal hypoplasia/aplasia, Polycystic kidney dysplasia, Abnormal localization of kidney, Long penis |
ORPHA:1988 |
Fanconi Anemia, Complementation Group O |
|
Renal cyst, Stage 5 chronic kidney disease, Hydronephrosis, Abnormal heart morphology |
OMIM:613390 |
6P22 Microdeletion Syndrome |
|
Patent ductus arteriosus, Hydronephrosis |
ORPHA:251046 |
Transketolase Deficiency |
|
Atrial septal defect, Abnormal coronary artery course, Increased level of ribose in urine, Ventri... |
ORPHA:488618 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Renal cyst |
OMIM:614870 |
Recombinant Chromosome 8 Syndrome |
|
Double outlet right ventricle, Atrial septal defect, Pulmonic stenosis, Tetralogy of Fallot, Vent... |
OMIM:179613 |
16P13.11 Microduplication Syndrome |
|
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Trans... |
ORPHA:261243 |
Polysyndactyly With Cardiac Malformation |
|
Ventricular septal defect, Renal cyst, Atrial septal defect, Hepatic cysts |
OMIM:263630 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Coarctation of aorta, Patent ductus arteriosus, Transposition of the great... |
OMIM:612474 |
Conotruncal Heart Malformations |
|
Double outlet right ventricle, Coarctation of aorta, Complete atrioventricular canal defect, Tran... |
OMIM:217095 |
Bardet-Biedl Syndrome 4 |
|
Abnormality of the kidney, Renal cyst |
OMIM:615982 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Duplicated collecting system, Hydronephrosis |
OMIM:617093 |
Congenital Gerbode Defect |
|
Bacterial endocarditis, Right atrial enlargement, Right ventricular hypertrophy, Pulmonic stenosi... |
ORPHA:99095 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Renal cortical cysts, Glycosuria, Generalized aminoaciduria, Polycystic kidney dysplasia, Pulmona... |
OMIM:231680 |
Urofacial Syndrome 1 |
|
Hydroureter, Recurrent urinary tract infections, Hydronephrosis, Urethral valve, Urethral obstruc... |
OMIM:236730 |
Odontochondrodysplasia 1 |
|
Polycystic kidney dysplasia, Pulmonary hypoplasia, Recurrent respiratory infections, Nephronophth... |
OMIM:184260 |
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To |
|
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm |
OMIM:617349 |
Prune Belly Syndrome |
|
Hydroureter, Patent ductus arteriosus, Hydronephrosis, Urethral valve, Congenital posterior ureth... |
OMIM:100100 |
Birt-Hogg-Dube Syndrome |
|
Renal neoplasm, Multiple pulmonary cysts, Renal cyst, Renal cell carcinoma, Spontaneous pneumothorax |
OMIM:135150 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Renal cyst |
OMIM:174050 |
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Stage 2 chronic kidney disease, Hypospadias, Recurrent urinary tract infections, Hydronephrosis, ... |
OMIM:191800 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Ventricular septal defect, Unilateral renal agenesis, Truncus arteriosus |
OMIM:601355 |
Pagod Syndrome |
|
Renal hypoplasia/aplasia, Hypoplastic left heart, Multicystic kidney dysplasia, Pulmonary artery ... |
ORPHA:991 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Ventricular hypertrophy, Aortic valve stenosis, Aortic atherosclerotic lesion, Intracranial hemor... |
ORPHA:363618 |
Heterotaxy, Visceral, 1, X-Linked |
|
Atrioventricular canal defect, Enlarged kidney, Ventricular septal defect, Horseshoe kidney, Card... |
OMIM:306955 |
Renal Dysplasia |
|
Enlarged kidney, Thickened glomerular basement membrane, Congenital posterior urethral valve, Rec... |
ORPHA:93108 |
Meckel Syndrome, Type 9 |
|
Multicystic kidney dysplasia |
OMIM:614209 |
Medullary cystic kidney disease 2 |
|
Renal tubular atrophy, Multiple renal cysts, Tubulointerstitial nephritis, Multiple small medulla... |
OMIM:603860 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Long-chain dicarboxylic aciduria, Ureteral duplication, Enlarged kidney, Renal dysplasia, Dilated... |
OMIM:608836 |
Methimazole Embryofetopathy |
|
Ventricular septal defect, Hypospadias, Coarctation of aorta, Abnormal aortic morphology |
ORPHA:1923 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Double outlet right ventricle, Atrial septal defect, Hypospadias, Tetralogy of Fallot, Pulmonary ... |
OMIM:618316 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Patent ductus arteriosus, Perimembranous ventricular septal defect |
OMIM:608104 |
Nephronophthisis 9 |
|
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613824 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Atrioventricular canal defect, Ventricular septal defect, Alveolar capillary dysplasia, Pulmonary... |
OMIM:265380 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Abnormality of the kidney, Cystic renal dysplasia, Ectopic kidney |
OMIM:613730 |
Cat-Eye Syndrome |
|
Renal hypoplasia/aplasia, Abnormal localization of kidney, Hydronephrosis |
ORPHA:195 |
Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Aortic valve stenosis, Abnormal aor... |
ORPHA:2306 |
Verheij Syndrome |
|
Renal agenesis, Abnormal cardiac septum morphology, Renal cyst, Renal hypoplasia |
OMIM:615583 |
Pulmonary Hypertension, Primary, 1 |
|
Right ventricular hypertrophy, Pulmonary aterial intimal fibrosis, Arterial intimal fibrosis, Pul... |
OMIM:178600 |
Fryns Syndrome |
|
Abnormal cardiac septum morphology, Hypospadias, Multicystic kidney dysplasia, Tetralogy of Fallo... |
ORPHA:2059 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Chordee, Atrial septal defect, Micropenis, Hypospadias, Ventricular septal defect, Histiocytoid c... |
OMIM:309801 |
Feingold Syndrome Type 1 |
|
Tricuspid atresia, Nephritis, Tricuspid stenosis, Abnormality of the kidney, Renal dysplasia, Pat... |
ORPHA:391641 |
Aortic Valve Disease 2 |
|
Calcification of the aorta, Bicuspid aortic valve, Coarctation of aorta, Aortic aneurysm |
OMIM:614823 |
Chromosome 9P Deletion Syndrome |
|
Atrial septal defect, Micropenis, Hypospadias, Ventricular septal defect, Patent ductus arteriosu... |
OMIM:158170 |
Meacham Syndrome |
|
Pulmonary sequestration, Anomalous pulmonary venous return, Atrial septal defect, Aortic valve st... |
ORPHA:3097 |
Image Syndrome |
|
Hypospadias, Hydronephrosis |
ORPHA:85173 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hypospadias, Renal cyst, Polycystic kidney dysplasia, Pulmonary hypoplasia, Renal hypoplasia |
OMIM:614091 |
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Hydronephrosis |
OMIM:235760 |
Lethal Congenital Contracture Syndrome 2 |
|
Ventricular septal defect, Dilated cardiomyopathy, Hydronephrosis |
OMIM:607598 |
Encephalocraniocutaneous Lipomatosis |
|
Peripheral pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect, Subvalvula... |
OMIM:613001 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Myoglobinuria, Cystic renal dysplasia, Red-brown urine, Tubulointerstitial nephritis, Polycystic ... |
ORPHA:157 |
Absence Of The Pulmonary Artery |
|
Abnormal cardiac septum morphology, Pulmonary edema, Atrial septal defect, Abnormal coronary arte... |
ORPHA:980 |
Joubert Syndrome 16 |
|
Renal cyst, Nephronophthisis |
OMIM:614465 |
Syndromic Diarrhea |
|
Peripheral pulmonary artery stenosis, Bicuspid aortic valve, Atrial septal defect, Tetralogy of F... |
ORPHA:84064 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Myoglobinuria, Cystic renal dysplasia, Red-brown urine, Dicarboxylic aciduria, Tubulointerstitial... |
ORPHA:228308 |
Mckusick-Kaufman Syndrome |
|
Urogenital sinus anomaly, Renal hypoplasia/aplasia, Atrial septal defect, Hypoplastic left heart,... |
ORPHA:2473 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Bicuspid aortic valve, Atrioventricular canal defect, Renal agenesis, Hypospadias, Coarctation of... |
ORPHA:508498 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Unilateral renal agenesis, Renal dysplasia, Polycystic kidney dysplasia, Renal insufficiency, Hyd... |
ORPHA:2237 |
Transaldolase Deficiency |
|
Abnormality of the kidney, Biventricular hypertrophy, Atrial septal defect, Coarctation of aorta |
ORPHA:101028 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Hydroureter, Hydronephrosis |
OMIM:618240 |
Von Willebrand Disease |
|
Abnormal mitral valve morphology, Venous insufficiency |
ORPHA:903 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Renal hypoplasia/aplasia, Overriding aorta, Abnormal localization of kidney, Tetralogy of Fallot |
ORPHA:3186 |
Congenital Alveolar Capillary Dysplasia |
|
Pulmonary valve atresia, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Hypo... |
ORPHA:210122 |
Branchiootorenal Syndrome 1 |
|
Unilateral renal agenesis, Abnormal renal collecting system morphology, Renal dysplasia, Renal st... |
OMIM:113650 |
Rhyns Syndrome |
|
Multicystic kidney dysplasia, Nephronophthisis |
ORPHA:140976 |
Sandestig-Stefanova Syndrome |
|
Perimembranous ventricular septal defect, Muscular ventricular septal defect |
OMIM:618804 |
Polycystic Kidney, Cataract, And Congenital Blindness |
|
Polycystic kidney dysplasia |
OMIM:263100 |
Phelan-Mcdermid Syndrome |
|
Abnormality of the kidney, Ventricular septal defect, Polycystic kidney dysplasia, Patent ductus ... |
OMIM:606232 |
Duodenal Atresia |
|
Abnormality of the pulmonary artery |
ORPHA:1203 |
Atrial Standstill |
|
Flexion contracture, Left ventricular noncompaction, Muscular dystrophy, Ischemic stroke, Skeleta... |
ORPHA:1344 |
Trisomy 13 |
|
Atrial septal defect, Abnormality of the ureter, Multiple renal cysts, Abnormal lung lobation, Ve... |
ORPHA:3378 |
Heterotaxy, Visceral, 5, Autosomal |
|
Double outlet right ventricle, Atrial septal defect, Double inlet left ventricle, Atrioventricula... |
OMIM:270100 |
Orofaciodigital Syndrome Xv |
|
Hydronephrosis |
OMIM:617127 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Ethylmalonic aciduria, 3-Methylglutaric aciduria, Polycystic kidney dysplasia, Glutaric aciduria,... |
ORPHA:26791 |
Aortic Valve Disease 3 |
|
Bicuspid aortic valve, Aortic valve stenosis, Aortic root aneurysm, Atrial septal defect |
OMIM:618496 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Nephrolithiasis, Bicuspid aortic valve, Aortic valve stenosis, Atrial septal defect, Pulmonic ste... |
ORPHA:353281 |
Grange Syndrome |
|
Ventricular septal defect, Arterial stenosis, Patent ductus arteriosus |
ORPHA:79094 |
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects |
|
Myelomeningocele, Ureteral atresia, Hydronephrosis |
OMIM:183802 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Abnormal cardiac septum morphology, Renal agenesis, Renal hypoplasia, Hydronephrosis, Abnormal he... |
OMIM:618494 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Ventricular septal defect, Abnormal tricuspid valve morphology, Abnormal aortic morphology |
ORPHA:3405 |
Ventriculomegaly With Cystic Kidney Disease |
|
Ventricular septal defect, Renal corticomedullary cysts, Vascular dilatation, Renal insufficiency |
OMIM:219730 |
Cat Eye Syndrome |
|
Tricuspid atresia, Atrial septal defect, Hypoplastic left heart, Pulmonic stenosis, Renal agenesi... |
OMIM:115470 |
Atrial Septal Defect 2 |
|
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Ventricular septal defect... |
OMIM:607941 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Polycystic kidney dysplasia, Aminoaciduria, Abnormal heart morphology |
OMIM:214110 |
Joubert Syndrome 39 |
|
Polycystic kidney dysplasia, Hypoplastic left heart |
OMIM:619562 |
Apert Syndrome |
|
Ventricular septal defect, Overriding aorta, Hydronephrosis |
OMIM:101200 |
Ochoa Syndrome |
|
Recurrent urinary tract infections, Renal insufficiency, Hydronephrosis, Urethral obstruction, Ve... |
ORPHA:2704 |
Tuberous Sclerosis Complex |
|
Chronic kidney disease, Abnormality of the kidney, Renal angiomyolipoma, Hepatic cysts, Renal cys... |
ORPHA:805 |
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
|
Micropenis, Renal agenesis, Hypospadias, Ventricular septal defect, Hydronephrosis, Perimembranou... |
OMIM:301040 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Patent ductus arteriosus, Hydronephrosis |
OMIM:619797 |
Meckel Syndrome 14 |
|
Pneumothorax, Single ventricle, Polycystic kidney dysplasia, Pulmonary hypoplasia |
OMIM:619879 |
Posterior Urethral Valve |
|
Dysuria, Unilateral renal dysplasia, Chronic kidney disease, Recurrent urinary tract infections, ... |
ORPHA:93110 |
Joubert Syndrome 35 |
|
Recurrent urinary tract infections, Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis |
OMIM:618161 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Brachiocephalic artery aneurysm, Atrial septal defect, Thoracic aortic aneurysm, Aortic arch aneu... |
OMIM:613834 |
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:3270 |
Short Rib-Polydactyly Syndrome |
|
Urogenital sinus anomaly, Nephronophthisis, Abnormality of the kidney, Hypospadias, Hepatic cysts... |
ORPHA:1505 |
Trisomy X |
|
Renal hypoplasia/aplasia, Multicystic kidney dysplasia |
ORPHA:3375 |
Noonan Syndrome 9 |
|
Pulmonic stenosis, Ventricular septal defect, Hydroureter, Coarctation of aorta |
OMIM:616559 |
Noonan Syndrome With Multiple Lentigines |
|
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Atrioventricular canal def... |
ORPHA:500 |
Xanthinuria, Type I |
|
Xanthine nephrolithiasis, Pyelonephritis, Xanthinuria, Hydronephrosis |
OMIM:278300 |
Tempi Syndrome |
|
Abnormality of the pulmonary vasculature, Abnormality of the kidney, Intracranial hemorrhage, Tra... |
ORPHA:284227 |
Aortic Aneurysm, Familial Thoracic 9 |
|
Mitral valve prolapse, Aortic tortuosity, Ascending aortic dissection, Thoracic aortic aneurysm |
OMIM:616166 |
3C Syndrome |
|
Abnormal mitral valve morphology, Atrial septal defect, Aortic valve stenosis, Hypoplastic left h... |
ORPHA:7 |
Kleefstra Syndrome |
|
Bicuspid aortic valve, Hypoplasia of penis, Micropenis, Hypospadias, Coarctation of aorta, Tetral... |
ORPHA:261494 |
X-Linked Intellectual Disability, Schimke Type |
|
Vesicoureteral reflux, Hydronephrosis |
ORPHA:85285 |
Joubert Syndrome 20 |
|
Renal cyst |
OMIM:614970 |
Cardiac-Urogenital Syndrome |
|
Atrial septal defect, Hypoplastic left heart, Scimitar anomaly, Micropenis, Tetralogy of Fallot, ... |
OMIM:618280 |
Rubinstein-Taybi Syndrome 1 |
|
Atrial septal defect, Hypoplastic left heart, Hypospadias, Recurrent upper respiratory tract infe... |
OMIM:180849 |
Floating-Harbor Syndrome |
|
Epididymal cyst, Atrial septal defect, Renal agenesis, Hypospadias, Coarctation of aorta, Tetralo... |
ORPHA:2044 |
Tetraamelia Syndrome 2 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Micropenis |
OMIM:618021 |
Familial Cerebral Saccular Aneurysm |
|
Cerebral berry aneurysm, Intracranial hemorrhage, Subarachnoid hemorrhage, Aortic dissection, Aor... |
ORPHA:231160 |
Meckel Syndrome, Type 7 |
|
Aortic valve stenosis, Atrial septal defect, Right ventricular hypertrophy, Multicystic kidney dy... |
OMIM:267010 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Ureteral agenesis, Renal dysplasia, Renal cyst, Renal hypoplasia, Pulmonary hypoplasia |
OMIM:236500 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Peripheral arterial stenosis, Patent ductus arteriosus, Varicose veins |
OMIM:126320 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Abnormal cardiac septum morphology, Coarctation of aorta, Renal cyst, Renal hypoplasia, Patent du... |
OMIM:618454 |
Williams Syndrome |
|
Abnormal cardiac septum morphology, Stroke, Abnormal carotid artery morphology, Ventricular septa... |
ORPHA:904 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n... |
OMIM:602088 |
Myopathy, Congenital, Progressive, With Scoliosis |
|
Renal atrophy, Hydronephrosis |
OMIM:618578 |
Tetraploidy |
|
Aplasia/Hypoplasia of the lungs, Renal hypoplasia/aplasia, Hydronephrosis |
ORPHA:3305 |
Arima Syndrome |
|
Occipital meningocele, Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Poly... |
OMIM:243910 |
Mckusick-Kaufman Syndrome |
|
Vesicovaginal fistula, Hydroureter, Polycystic kidney dysplasia, Pulmonary hypoplasia, Hydronephr... |
OMIM:236700 |
Partial Atrioventricular Septal Defect |
|
Double outlet right ventricle, Partial atrioventricular canal defect, Bacterial endocarditis, Ano... |
ORPHA:1330 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Abnormal cardiac septum morphology, Hypospadias, Hydronephrosis |
OMIM:616449 |
Say Syndrome |
|
Proximal renal tubular acidosis, Cystic renal dysplasia |
OMIM:181180 |
Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Renal cyst, Multiple renal cysts |
OMIM:614883 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Micropenis, Hypospadias, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Pa... |
OMIM:600460 |
Primary Pulmonary Hypoplasia |
|
Secundum atrial septal defect, Ureteral stenosis, Dextrocardia, Pulmonary hypoplasia, Pneumothora... |
ORPHA:2257 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Renal cyst, Hydronephrosis, Renal dysplasia, Micropenis |
OMIM:615287 |
Alport Syndrome |
|
Glomerular C3 deposition, Hematuria, Thickened glomerular basement membrane, Proteinuria, Thin gl... |
ORPHA:63 |
Meckel Syndrome, Type 4 |
|
Ventricular septal defect, Renal cyst, Atrial septal defect, Meningocele |
OMIM:611134 |
20Q13.33 Microdeletion Syndrome |
|
Abnormal cardiac ventricle morphology, Atrial septal defect, Hypospadias, Hypoplastic aortic arch... |
ORPHA:261311 |
Congenital Tracheal Stenosis |
|
Hypoplastic left heart, Anomalous origin of left pulmonary artery from ascending aorta, Abnormali... |
ORPHA:141127 |
Ogden Syndrome |
|
Peripheral pulmonary artery stenosis, Bicuspid aortic valve, Pulmonary edema, Secundum atrial sep... |
OMIM:300855 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal tubular acidosis, Renal dysplasia, Renal cyst, Renal hypoplasia, Renal insufficiency, Cardi... |
OMIM:614922 |
Diabetes Insipidus, Neurohypophyseal, X-Linked |
|
Polyuria, Hydronephrosis |
OMIM:304900 |
Cardiomyopathy, Dilated, 1D |
|
Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:601494 |
Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Recurrent upper respiratory tract infections, Multicystic kidney dysplasia, Pneumonia, Micropenis |
OMIM:300209 |
22Q11.2 Deletion Syndrome |
|
Tricuspid atresia, Abnormal pulmonary valve morphology, Atrial septal defect, Hypospadias, Abnorm... |
ORPHA:567 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Nephrolithiasis, Bicuspid aortic valve, Abnormal subclavian artery morphology, Aortic valve steno... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Nephrolithiasis, Bicuspid aortic valve, Abnormal subclavian artery morphology, Aortic valve steno... |
ORPHA:353277 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Polycystic kidney dysplasia, Hyperechogenic kidneys |
OMIM:617866 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Atrial septal defect, Micropenis, Ventricular septal defect, Polycystic kidney dysplasia, Pulmona... |
OMIM:263520 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Double outlet right ventricle, Micropenis, Pulmonic stenosis, Hypospadias, Pulmonary artery atres... |
OMIM:301056 |
Wolfram Syndrome, Mitochondrial Form |
|
Hydroureter, Hydronephrosis |
OMIM:598500 |
Cardiac Diverticulum |
|
Tricuspid atresia, Tricuspid stenosis, Ventricular septal defect, Abnormal heart morphology, Tetr... |
ORPHA:1686 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Bladder diverticulum, Pulmonary hypoplasia, Vascular dilatation, Patent foramen ovale, Emphysema,... |
OMIM:613177 |
Trisomy 1Q |
|
Congenital megaureter, Multicystic kidney dysplasia, Ventricular septal defect, Patent ductus art... |
ORPHA:261344 |
Williams-Beuren Region Duplication Syndrome |
|
Unilateral renal agenesis, Patent ductus arteriosus, Hydronephrosis |
OMIM:609757 |
X-Linked Mandibulofacial Dysostosis |
|
Pulmonic stenosis, Abnormal mitral valve morphology, Abnormality of the pulmonary artery |
ORPHA:1131 |
Penile Agenesis |
|
Urethral atresia, male, Atrial septal defect, Urethral fistula, Bilateral renal hypoplasia, Bilat... |
ORPHA:49 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Patent ductus arteriosus, Hydronephrosis |
OMIM:300048 |
Suleiman-El-Hattab Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Hydronephrosis, Recurrent ... |
OMIM:618950 |
Distal Monosomy 15Q |
|
Mitral stenosis, Double outlet right ventricle with doubly committed ventricular septal defect an... |
ORPHA:1596 |
Diaphanospondylodysostosis |
|
Myelomeningocele, Multiple renal cysts |
ORPHA:66637 |
Charge Syndrome |
|
Double outlet right ventricle, Secundum atrial septal defect, Atrial septal defect, Overriding ao... |
OMIM:214800 |
Bor Syndrome |
|
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Ureteropelvic junction obstruction, Renal... |
ORPHA:107 |
Renal Coloboma Syndrome |
|
Multicystic kidney dysplasia, Renal dysplasia, Renal hypoplasia, Renal insufficiency, Vesicourete... |
ORPHA:1475 |
Pauci-Immune Glomerulonephritis |
|
Abnormality of the pulmonary vasculature, Decreased glomerular filtration rate, Nephrotic range p... |
ORPHA:93126 |
Wolfram Syndrome 1 |
|
Hydroureter, Cardiomyopathy, Hydronephrosis, Stroke-like episode, Neurogenic bladder |
OMIM:222300 |
Hereditary Xanthinuria |
|
Crystalluria, Recurrent urinary tract infections, Xanthinuria, Hematuria, Acute kidney injury, Hy... |
ORPHA:3467 |
Lymphedema-Distichiasis Syndrome |
|
Abnormality of the pulmonary vasculature, Recurrent urinary tract infections, Renal duplication, ... |
ORPHA:33001 |
Familial Bicuspid Aortic Valve |
|
Bicuspid aortic valve, Aortic valve calcification, Aortic valve stenosis, Hypoplastic left heart,... |
ORPHA:402075 |
15Q11.2 Microdeletion Syndrome |
|
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Total... |
ORPHA:261183 |
Distal Trisomy 6P |
|
Abnormality of the urinary system, Renal hypoplasia, Hydronephrosis, Abnormal lung lobation |
ORPHA:1745 |
Mosaic Trisomy 1 |
|
Renal cortical cysts, Micropenis, Coarctation of aorta, Pulmonary artery atresia, Ventricular sep... |
ORPHA:1692 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Hypospadias, Left ventricular hypertrophy, Renal insufficiency, Hydronephrosis |
OMIM:611209 |
Double Outlet Right Ventricle |
|
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Coarctation of aorta, T... |
ORPHA:3426 |
Mosaic Trisomy 9 |
|
Atrial septal defect, Hypoplasia of penis, Multiple renal cysts, Endocardial fibroelastosis, Vent... |
ORPHA:99776 |
Thakker-Donnai Syndrome |
|
Ventricular septal defect, Hydronephrosis, Transposition of the great arteries, Tetralogy of Fallot |
ORPHA:1780 |
Axial Osteomalacia |
|
Renal cyst |
OMIM:109130 |
Orofaciodigital Syndrome I |
|
Myelomeningocele, Ovarian cyst, Hepatic cysts, Polycystic kidney dysplasia, Vascular dilatation, ... |
OMIM:311200 |
Distal Monosomy 12Q |
|
Congenital hypertrophy of left ventricle, Micropenis, Polycystic kidney dysplasia, Patent ductus ... |
ORPHA:96149 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Micropenis, Hypospadias, Ventricular septal defect, Pulmonary hypoplasia, Pleural effusion, Hydro... |
OMIM:616897 |
Bardet-Biedl Syndrome 17 |
|
Micropenis, Polyuria, Situs inversus totalis, Dextrocardia, Renal cyst, Stage 5 chronic kidney di... |
OMIM:615994 |
Coach Syndrome 1 |
|
Nephronophthisis, Unilateral renal agenesis, Renal cyst, Vascular dilatation, Multiple small medu... |
OMIM:216360 |
Leigh Syndrome With Nephrotic Syndrome |
|
Nephrotic syndrome, Renal tubular acidosis, Renal cyst, Tubulointerstitial nephritis, Cardiomegal... |
ORPHA:255249 |
Meckel Syndrome, Type 1 |
|
Abnormal cardiac septum morphology, Renal agenesis, Abnormality of the ureter, Hypoplasia of the ... |
OMIM:249000 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Ventricular septal defect, Abnormal vena cava morphology, Renal cyst, Horseshoe kidney |
ORPHA:166035 |
Thauvin-Robinet-Faivre Syndrome |
|
Nephroblastoma, Renal dysplasia, Ventricular septal defect, Mitral valve prolapse, Renal cyst, Bi... |
OMIM:617107 |
Joubert Syndrome 7 |
|
Renal cyst, Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:611560 |
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome |
|
Urogenital sinus anomaly, Renal hypoplasia/aplasia, Hydroureter, Abnormality of the urethra, Mult... |
ORPHA:2973 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Vesicoureteral reflux, Hydronephrosis |
OMIM:618265 |
Alg3-Cdg |
|
Coarctation of the descending aortic arch, Pulmonary hypoplasia, Cardiomyopathy |
ORPHA:79321 |
Vacterl/Vater Association |
|
Abnormal cardiac septum morphology, Hypoplasia of penis, Renal agenesis, Hypospadias, Abnormality... |
ORPHA:887 |
Axial Mesodermal Dysplasia Spectrum |
|
Renal hypoplasia/aplasia, Abnormality of the urinary system, Abnormality of the ureter, Renal cys... |
ORPHA:1834 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Subvalvular aortic stenosis, Complete atrioventricular canal defect, Coarctation of aorta |
OMIM:217085 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Restrictive cardiomyopathy, Ureteral stenosis, Hypercalciuria, Renal cyst, Patent ductus arterios... |
OMIM:615398 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Hydronephrosis, Atrial septal defect |
ORPHA:457193 |
Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified |
|
Aortic aneurysm, Myxomatous mitral valve degeneration, Aortic dissection, Mucoid extracellular ma... |
OMIM:130090 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Mitral stenosis, Coarctation of aorta, Renal dysplasia, Renal cyst, Patent ductus arteriosus |
OMIM:617260 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Lymphangiectasis, Renal cyst, Proximal tubulopathy |
OMIM:602579 |
Craniofacioskeletal Syndrome |
|
Atrial septal defect, Hypospadias, Ventricular septal defect, Patent ductus arteriosus, Hydroneph... |
OMIM:300712 |
15q26 overgrowth syndrome |
|
Renal agenesis, Abnormality of the kidney, Polycystic kidney dysplasia, Horseshoe kidney, Hydrone... |
DECIPHER:81 |
Serkal Syndrome |
|
Pulmonic stenosis, Abnormal penis morphology, Hypospadias, Renal agenesis, Hypoplasia of the blad... |
ORPHA:139466 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Left ventricular noncompaction, Left ventricular hypertrophy, Neonatal death, Dilated cardiomyopa... |
OMIM:619167 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Renal cyst, Polycystic kidney dysplasia, Pancreatic cysts |
OMIM:610199 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Renal agenesis, Hypospadias, Bilateral lung agenesis, Hypoplasia of the bladder, Ventricular sept... |
OMIM:611812 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Hypoplastic tricuspid valve, Atrial septal defect, Pulmonic stenosis, Ureteral duplication, Tetra... |
ORPHA:2255 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Ventricular septal defect, Pulmonary artery stenosis, Renal hypoplasia, Atrial septal defect |
ORPHA:75389 |
Femoral-Facial Syndrome |
|
Micropenis, Pulmonic stenosis, Abnormal renal collecting system morphology, Renal agenesis, Ventr... |
OMIM:134780 |
Pallister-Hall Syndrome |
|
Distal urethral duplication, Micropenis, Hydroureter, Abnormal lung lobation, Ventricular septal ... |
OMIM:146510 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Renal dysplasia, Polycystic kidney dysplasia, Micropenis, Enlarged kidney |
OMIM:613091 |
Bardet-Biedl Syndrome 6 |
|
Hypospadias, Renal cyst |
OMIM:605231 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Atrial septal defect, Pleural lymphangiectasia, Ventricular septal defect, Pericardial effusion, ... |
OMIM:235510 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Double outlet right ventricle, Cardiac total anomalous pulmonary venous connection, Atrial septal... |
ORPHA:99125 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome |
|
Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Ventricular septal defect, Ureteropelv... |
OMIM:280000 |
Nephronophthisis 1 |
|
Renal tubular atrophy, Nephronophthisis, Polyuria, Hyposthenuria, Tubulointerstitial fibrosis, Tu... |
OMIM:256100 |
Monosomy 18Q |
|
Absence of the pulmonary valve, Secundum atrial septal defect, Aortic valve stenosis, Dysplastic ... |
ORPHA:1600 |
Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Bicuspid aortic valve, Aortic valve stenosis, Atrial ... |
OMIM:108800 |
Zaki Syndrome |
|
Renal agenesis, Patent ductus arteriosus, Patent foramen ovale, Hydronephrosis |
OMIM:619648 |
Czeizel-Losonci Syndrome |
|
Myelomeningocele, Congenital megaureter, Abnormality of the urinary system, Ureteral agenesis, De... |
ORPHA:2437 |
Nephronophthisis 4 |
|
Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal corticomedu... |
OMIM:606966 |
Fixed Subaortic Stenosis |
|
Bacterial endocarditis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Atrioventricul... |
ORPHA:3092 |
Congenital Disorder Of Glycosylation, Type It |
|
Coarctation of aorta, Ventricular septal defect, Dilated cardiomyopathy, Hydronephrosis, Cardiome... |
OMIM:614921 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Micropenis, Pulmonary lymphangiectasia, Ventricular septal defect, Pancreatic lymphangiectasis, H... |
OMIM:235255 |
Papillorenal Syndrome |
|
Nephrolithiasis, Chronic kidney disease, Absence of renal corticomedullary differentiation, Multi... |
OMIM:120330 |
Carpenter Syndrome 1 |
|
Atrial septal defect, Pulmonic stenosis, Hydroureter, Tetralogy of Fallot, Ventricular septal def... |
OMIM:201000 |
Igg4-Related Kidney Disease |
|
Abnormal ureter morphology, Urethritis, Ureteral obstruction, Hematuria, Renal interstitial immun... |
ORPHA:449395 |
Holt-Oram Syndrome |
|
Anomalous pulmonary venous return, Atrial septal defect, Hypoplastic left heart, Atrioventricular... |
ORPHA:392 |
3-Methylglutaconic Aciduria Type 7 |
|
Renal cyst, 3-Methylglutaconic aciduria, Renal insufficiency, Pneumothorax, Nephrocalcinosis, Car... |
ORPHA:445038 |
Nephronophthisis 3 |
|
Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal insufficien... |
OMIM:604387 |
Braddock-Carey Syndrome 1 |
|
Ventricular septal defect, Multicystic kidney dysplasia, Aortic valve prolapse |
OMIM:619980 |
Scleromyxedema |
|
Stroke, Abnormality of the kidney, Abnormal coronary artery morphology, Abnormal lung morphology,... |
ORPHA:167635 |
46,Xx Sex Reversal 5 |
|
Ventricular septal defect, Urogenital sinus anomaly, Secundum atrial septal defect, Hypoplastic l... |
OMIM:618901 |
Desmoid Tumor |
|
Abnormality of the upper urinary tract, Hydronephrosis |
ORPHA:873 |
Cystic Echinococcosis |
|
Multiple pulmonary cysts, Ovarian cyst, Abnormal subpleural morphology, Membranous nephropathy, H... |
ORPHA:400 |
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Atrial septal defect, Renal agenesis, Cystic r... |
OMIM:220500 |
Heart And Brain Malformation Syndrome |
|
Ventricular septal defect, Interrupted aortic arch |
OMIM:616920 |
Autosomal Recessive Polycystic Kidney Disease |
|
Reduced renal corticomedullary differentiation, Recurrent urinary tract infections, Enlarged kidn... |
ORPHA:731 |
Noonan Syndrome 4 |
|
Atrial septal defect, Pulmonic stenosis, Ureteral duplication, Ventricular septal defect, Hydrone... |
OMIM:610733 |
1Q21.1 Microdeletion Syndrome |
|
Abnormal cardiac septum morphology, Patent ductus arteriosus, Hydronephrosis, Interrupted aortic ... |
ORPHA:250989 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Carotid artery dilatation, Peripheral arterial stenosis, Bicuspid aortic valve, Stroke, Descendin... |
ORPHA:91387 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Atrial septal defect, Micropenis, Hypospadias, Intracranial hemorrhage, Ventricular septal defect... |
ORPHA:163979 |
Meckel Syndrome, Type 10 |
|
Hypospadias, Renal cyst, Micropenis |
OMIM:614175 |
Aortic Valve Disease 1 |
|
Double outlet right ventricle, Mitral stenosis, Bicuspid aortic valve, Aortic valve stenosis, Mit... |
OMIM:109730 |
Duane-Radial Ray Syndrome |
|
Atrial septal defect, Renal agenesis, Crossed fused renal ectopia, Ventricular septal defect, Ren... |
OMIM:607323 |
Tarp Syndrome |
|
Hydronephrosis, Horseshoe kidney, Tetralogy of Fallot |
OMIM:311900 |
Atresia Of Urethra |
|
Hydroureter, Recurrent urinary tract infections, Bladder fistula, Renal dysplasia, Renal insuffic... |
ORPHA:105 |
Netherton Syndrome |
|
Aminoaciduria, Ectopic kidney, Hydronephrosis, Emphysema, Recurrent respiratory infections |
ORPHA:634 |
Microgastria-Limb Reduction Defects Association |
|
Type I truncus arteriosus, Secundum atrial septal defect, Unilateral renal agenesis, Cystic renal... |
OMIM:156810 |
Cardiac Valvular Dysplasia 2 |
|
Bicuspid aortic valve, Pulmonic stenosis, Subvalvular aortic stenosis, Pulmonary artery dilatatio... |
OMIM:620067 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Hydronephrosis |
OMIM:602418 |
9Q21.13 Microdeletion Syndrome |
|
Hydronephrosis, Abnormal heart morphology |
ORPHA:531151 |
Acrorenal-Mandibular Syndrome |
|
Aplasia of the bladder, Renal agenesis, Abnormality of the ureter, Polycystic kidney dysplasia, P... |
OMIM:200980 |
Marden-Walker Syndrome |
|
Renal hypoplasia/aplasia, Abnormality of the urinary system, Abnormal penis morphology, Abnormali... |
ORPHA:2461 |
Kury-Isidor Syndrome |
|
Ventricular septal defect, Hydronephrosis |
OMIM:619762 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Mitral valve prolapse, Patent ductus arteriosus, Ureteral triplication, Hydronephrosis |
OMIM:104350 |
Focal Dermal Hypoplasia |
|
Abnormality of the pulmonary vasculature, Abnormal cardiac septum morphology, Renal hypoplasia/ap... |
ORPHA:2092 |
Sick Sinus Syndrome 2 |
|
Left ventricular hypertrophy, Mitral valve prolapse, Left ventricular noncompaction |
OMIM:163800 |
Aortic Aneurysm, Familial Thoracic 10 |
|
Bicuspid aortic valve, Abdominal aortic aneurysm, Aortic arch aneurysm, Aortic root aneurysm, Cor... |
OMIM:617168 |
Perlman Syndrome |
|
Nephrogenic rest, Nephroblastoma, Renal hamartoma, Nephroblastomatosis, Interrupted aortic arch |
OMIM:267000 |
Viss Syndrome |
|
Tortuous cerebral arteries, Aortic tortuosity, Pulmonary artery aneurysm, Ventricular septal defe... |
OMIM:619472 |
Seckel Syndrome 9 |
|
Atrial septal defect, Recurrent urinary tract infections, Pulmonary artery hypoplasia, Ventricula... |
OMIM:616777 |
Opitz Gbbb Syndrome |
|
Atrial septal defect, Hypospadias, Abnormality of the urinary system, Coarctation of aorta, Ventr... |
ORPHA:2745 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Double outlet right ventricle, Anomalous pulmonary venous return, Atrial septal defect, Thoracic ... |
OMIM:619657 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Ureteral hypoplasia, Atrial septal defect, Bladder trabeculation, Ureteral duplication, Renal dys... |
OMIM:614080 |
Endove Syndrome, Limb-Brain Type |
|
Recurrent urinary tract infections, Neurogenic bladder, Hydronephrosis |
OMIM:619218 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Abnormality of bladder morphology, Bicuspid aortic valve, Atrial septal defect, Atrioventricular ... |
ORPHA:453499 |
Meckel Syndrome, Type 6 |
|
Aplasia of the bladder, Hepatic cysts, Renal cyst, Horseshoe kidney, Pulmonary hypoplasia, Bilobe... |
OMIM:612284 |
Naxos Disease |
|
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Dilated ca... |
OMIM:601214 |
Melnick-Needles Syndrome |
|
Abnormal cardiac septum morphology, Hydronephrosis, Vesicoureteral reflux, Recurrent respiratory ... |
ORPHA:2484 |
Genitopatellar Syndrome |
|
Multicystic kidney dysplasia, Pulmonary hypoplasia, Hydronephrosis, Atrial septal defect |
ORPHA:85201 |
Zellweger Syndrome |
|
Ventricular septal defect, Hypospadias, Multicystic kidney dysplasia, Hydronephrosis |
ORPHA:912 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Micropenis, Pulmonary lymphangiectasia, Abnormal renal morphology, Ventricular septal defect, Pan... |
ORPHA:1655 |
Halperin-Birk Syndrome |
|
Perimembranous ventricular septal defect |
OMIM:618651 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Hydronephrosis |
OMIM:618060 |
8P23.1 Microdeletion Syndrome |
|
Abnormal cardiac septum morphology, Hypoplastic left heart, Atrioventricular canal defect, Hyposp... |
ORPHA:251071 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Patent foramen ovale, Recurrent pneumonia, Hydronephrosis |
OMIM:619179 |
Koolen-De Vries Syndrome |
|
Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, Recurrent urinary tract infection... |
OMIM:610443 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Patent ductus arteriosus, Abnormal aortic morphology, Hypoplastic left heart |
ORPHA:2001 |
Caroli Disease |
|
Polycystic kidney dysplasia |
ORPHA:53035 |
Igg4-Related Retroperitoneal Fibrosis |
|
Dysuria, Nephrotic syndrome, Hematuria, Membranous nephropathy, Renovascular hypertension, Ureter... |
ORPHA:49041 |
Aminopterin/Methotrexate Embryofetopathy |
|
Tetralogy of Fallot, Pulmonary artery atresia, Ventricular septal defect, Situs inversus totalis,... |
ORPHA:1908 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Renal hypoplasia, Vesicoureteral reflux, Hydronephrosis |
OMIM:613735 |
Intellectual Disability, Buenos-Aires Type |
|
Abnormal cardiac septum morphology, Hydronephrosis |
ORPHA:3079 |
Endove Syndrome, Limb-Only Type |
|
Vesicoureteral reflux, Hydronephrosis |
OMIM:619217 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Pulmonary hypoplasia, Perimembranous ventricular septal defect, Hydronephrosis, Micropenis |
ORPHA:83617 |
Khan-Khan-Katsanis Syndrome |
|
Renal hypoplasia, Patent ductus arteriosus, Patent foramen ovale, Hydronephrosis, Vesicoureteral ... |
OMIM:618460 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Renal cyst, Multicystic kidney dysplasia, Meningocele |
ORPHA:2031 |
Meckel Syndrome, Type 5 |
|
Renal cyst |
OMIM:611561 |
Renal Agenesis |
|
Unilateral renal agenesis, Renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral renal age... |
ORPHA:411709 |
Joubert Syndrome 37 |
|
Hydronephrosis, Micropenis |
OMIM:619185 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Secundum atrial septal defect, Pulmonic stenosis, Recurrent upper respiratory tract infections, R... |
OMIM:612541 |
Maternal Phenylketonuria |
|
Double outlet right ventricle, Hypoplastic left heart, Coarctation of aorta, Tetralogy of Fallot,... |
ORPHA:2209 |
Joubert Syndrome 14 |
|
Renal cyst |
OMIM:614424 |
8P Inverted Duplication/Deletion Syndrome |
|
Micropenis, Abnormality of the urinary system, Tetralogy of Fallot, Dextrocardia, Hydronephrosis,... |
ORPHA:96092 |
Facial Dysmorphism With Multiple Malformations |
|
Ventricular septal defect, Hydronephrosis, Transposition of the great arteries, Tetralogy of Fallot |
OMIM:227255 |
Cerebellar-Facial-Dental Syndrome |
|
Ventricular septal defect, Mitral valve prolapse, Ureteropelvic junction obstruction, Hydronephro... |
ORPHA:444072 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Aminoaciduria, Hypospadias, Ventricular septal defect, Pulmonary hypoplasia, Patent ductus arteri... |
OMIM:214100 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Peripheral pulmonary artery stenosis, Atrial septal defect, Pulmonic stenosis, Coarctation of aor... |
OMIM:617506 |
Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Epidural hemorrhage, Multiple renal cysts, Abnormal lymphatic vessel morphology... |
ORPHA:464329 |
Long Qt Syndrome 15 |
|
Left ventricular noncompaction |
OMIM:616249 |
Koolen-De Vries Syndrome |
|
Abnormal cardiac septum morphology, Bicuspid aortic valve, Hypospadias, Renal duplication, Ureter... |
ORPHA:96169 |
Johanson-Blizzard Syndrome |
|
Abnormal cardiac septum morphology, Hypoplasia of penis, Hypospadias, Dextrocardia, Hydronephrosis |
ORPHA:2315 |
Phace Association |
|
Anomalous branches of internal carotid artery, Coarctation of aorta, Ventricular septal defect, P... |
OMIM:606519 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Atrioventricular canal defect, Ventricular septal defect, Cor triatriatum, Stage 5 chronic kidney... |
OMIM:619534 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Decreased glomerular filtration rate, Impaired renal uric acid clearance, ... |
OMIM:174000 |
Renal Cysts And Diabetes Syndrome |
|
Nephrolithiasis, Unilateral renal agenesis, Abnormality of the kidney, Hypospadias, Glycosuria, A... |
OMIM:137920 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Fetal megacystis, Hydroureter, Hydronephrosis, Megacystis |
OMIM:619362 |
2Q37 Microdeletion Syndrome |
|
Nephroblastoma, Multicystic kidney dysplasia, Abnormal aortic morphology |
ORPHA:1001 |
Hardikar Syndrome |
|
Atrial septal defect, Hydroureter, Recurrent urinary tract infections, Hypoplasia of the bladder,... |
OMIM:301068 |
Toluene Embryopathy |
|
Abnormal localization of kidney, Hydronephrosis |
ORPHA:1920 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Hypoplasia of penis, Hydronephrosis |
ORPHA:2083 |
Tuberous Sclerosis 1 |
|
Renal angiomyolipoma, Renal cyst, Renal cell carcinoma, Cardiac rhabdomyoma, Pulmonary lymphangio... |
OMIM:191100 |
Takenouchi-Kosaki Syndrome |
|
Abnormal cardiac septum morphology, Pulmonic stenosis, Unilateral renal agenesis, Hypospadias, Pa... |
OMIM:616737 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic valve stenosis, Micropenis, Unilateral renal agenesis, Hypospadias, Ventricular septal def... |
ORPHA:464311 |
Trisomy 8P |
|
Peripheral pulmonary artery stenosis, Micropenis, Recurrent upper respiratory tract infections, T... |
ORPHA:264450 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Atrial septal defect, Male urethral meatus stenosis, Hypospadias, Left superior vena cava drainin... |
ORPHA:464738 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Ventricular septal defect, Renal cyst, Horseshoe kidney |
OMIM:250410 |
Alagille Syndrome 1 |
|
Peripheral pulmonary artery stenosis, Stroke, Atrial septal defect, Renal tubular acidosis, Coarc... |
OMIM:118450 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Atrial septal defect, Renal dysplasia, Patent ductus arteriosus, Hydronephrosis, Recurrent respir... |
OMIM:300968 |
Kabuki Syndrome |
|
Abnormal cardiac septum morphology, Renal hypoplasia/aplasia, Hypoplasia of penis, Hypospadias, C... |
ORPHA:2322 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Hypertrophic cardiomyopathy, Abnormal renal collecting system morphology, Hypospadias, Methylmalo... |
ORPHA:17 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Atrial septal defect, Congenital megaureter, Restrictive cardiomyopathy, Abnormality of the urina... |
ORPHA:369837 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Renal cortical microcysts, Renal cyst, Abnormal heart morphology |
OMIM:614866 |
Robinow Syndrome |
|
Tricuspid atresia, Pulmonary valve atresia, Atrial septal defect, Micropenis, Pulmonic stenosis, ... |
ORPHA:97360 |
Alzahrani-Kuwahara Syndrome |
|
Atrial septal defect, Hypospadias, Pulmonary artery sling, Ventricular septal defect, Patent fora... |
OMIM:619268 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Unilateral renal dysplasia, Peripheral pulmonary artery stenosis, Atrial septal defect, Right ven... |
ORPHA:280633 |
Genitopalatocardiac Syndrome |
|
Abnormal cardiac septum morphology, Multicystic kidney dysplasia, Hypospadias |
ORPHA:2075 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Renal cyst |
OMIM:614862 |
Meckel Syndrome, Type 2 |
|
Renal cyst, Meningocele |
OMIM:603194 |
Alg9-Cdg |
|
Ureteral hypoplasia, Atrial septal defect, Hypoplasia of the bladder, Abnormal lung lobation, Ven... |
ORPHA:79328 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Megacystis, Hydroureter, Hydronephrosis |
OMIM:619431 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Aplasia of the bladder, Ureterocele, Renal duplication, Hematuria, Urethral stricture, Renal dysp... |
ORPHA:79403 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Right ventricular hypertroph... |
OMIM:300967 |
De Barsy Syndrome |
|
Prominent veins on trunk, Recurrent sinopulmonary infections, Ventricular septal defect, Patent d... |
ORPHA:2962 |
Autosomal Recessive Robinow Syndrome |
|
Abnormal pulmonary valve morphology, Atrial septal defect, Hypoplasia of penis, Multicystic kidne... |
ORPHA:1507 |
Nabais Sa-De Vries Syndrome, Type 2 |
|
Multicystic kidney dysplasia, Hypoplastic left heart |
OMIM:618829 |
Senior-Loken Syndrome 3 |
|
Nephronophthisis, Polyuria, Renal corticomedullary cysts, Enuresis, Stage 5 chronic kidney disease |
OMIM:606995 |
Vater/Vacterl Association |
|
Renal agenesis, Hypospadias, Tetralogy of Fallot, Renal dysplasia, Ventricular septal defect, Ure... |
OMIM:192350 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Renal hypoplasia, Aminoaciduria, Hydronephrosis |
OMIM:617913 |
Peters Plus Syndrome |
|
Abnormal cardiac septum morphology, Renal hypoplasia/aplasia, Hypoplastic left heart, Pulmonic st... |
ORPHA:709 |
Cockayne Syndrome Type 3 |
|
Stroke, Premature coronary artery atherosclerosis, Subdural hemorrhage, Unilateral renal agenesis... |
ORPHA:90324 |
7Q11.23 Microduplication Syndrome |
|
Aortic valve stenosis, Atrial septal defect, Unilateral renal agenesis, Hypospadias, Ventricular ... |
ORPHA:96121 |
Tuberous Sclerosis 2 |
|
Absence of renal corticomedullary differentiation, Renal angiomyolipoma, Renal cyst, Renal cell c... |
OMIM:613254 |
Criss-Cross Heart |
|
Mitral stenosis, Abnormal mitral valve morphology, Pulmonic stenosis, Tricuspid stenosis, Ventric... |
ORPHA:1461 |
Senior-Boichis Syndrome |
|
Carotid artery dilatation, Renal atrophy, Chronic kidney disease, Reduced renal corticomedullary ... |
ORPHA:84081 |
Tarp Syndrome |
|