| Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Hydronephrosis, Hydroureter, Pulmonic stenosis |
OMIM:264140 |
| Genitopalatocardiac Syndrome |
|
Hypospadias, Ventricular septal defect, Double outlet right ventricle, Renal cyst, Right aortic a... |
OMIM:231060 |
| Alagille Syndrome 2 |
|
Hypertension, Renal hypoplasia, Peripheral pulmonary artery stenosis, Renal tubular acidosis, Hem... |
OMIM:610205 |
| Ventricular Septal Defect 3 |
|
Pulmonary artery stenosis, Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus |
OMIM:614432 |
| Renal Caliceal Diverticuli-Deafness Syndrome |
|
Hydronephrosis, Abnormality of the urinary system, Abnormality of the upper urinary tract, Hydrou... |
ORPHA:2838 |
| Nephronophthisis 16 |
|
Hypertrophic cardiomyopathy, Situs inversus totalis, Nephronophthisis, Patent ductus arteriosus, ... |
OMIM:615382 |
| Cardiac Diverticulum |
|
Bicuspid aortic valve, Syncope, Tricuspid stenosis, Abnormal coronary artery origin, Mitral steno... |
ORPHA:1686 |
| Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Abnormal mitral valve morphology, Supravalvular ao... |
ORPHA:1461 |
| Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Cystic renal dysplasia, Renal hypoplasia, Hydronephrosis, Renal sarcoma, Nephrotic syndrome, Rena... |
OMIM:143400 |
| Cardiac Valvular Defect, Developmental |
|
Hydronephrosis, Tricuspid atresia, Mitral valve prolapse, Arteria lusoria, Mitral stenosis, Tricu... |
OMIM:212093 |
| Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Ventricular septal defect, Tetralogy of Fallot, Peripheral pulmonary artery stenosis |
OMIM:617992 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot, Pulmonic stenosis |
OMIM:601127 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Bicuspid aortic valve, Double outlet right ventricle, Patent ductus arteriosus, Bilateral renal a... |
OMIM:618845 |
| Megabladder, Congenital |
|
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:618719 |
| Congenital Primary Megaureter |
|
Hydronephrosis, Abnormal penis morphology, Congenital megaureter, Nephrolithiasis, Recurrent urin... |
ORPHA:617 |
| Prune Belly Syndrome |
|
Ventricular septal defect, Aplasia/Hypoplasia of the lungs, Abnormality of the ureter, Congenital... |
ORPHA:2970 |
| Nephronophthisis 14 |
|
Situs inversus totalis, Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
| Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Hypertension, Mitral valve prolapse, Mitral regurgitation, Cerebral berry aneurysm, Hepatic cysts... |
OMIM:173900 |
| Polycystic Kidney Disease 5 |
|
Hyperechogenic kidneys, Polycystic kidney dysplasia, Stage 5 chronic kidney disease |
OMIM:617610 |
| Tricuspid Atresia |
|
Ventricular septal defect, Tricuspid atresia, Hypoplasia of right ventricle, Persistent left supe... |
ORPHA:1209 |
| Thymic Aplasia With Fetal Death |
|
Ureteral agenesis, Pulmonary hypoplasia, Truncus arteriosus, Renal agenesis |
OMIM:274210 |
| Feingold Syndrome Type 1 |
|
Interrupted aortic arch, Horseshoe kidney, Hydronephrosis, Tricuspid atresia, Tricuspid stenosis,... |
ORPHA:391641 |
| Supravalvular Aortic Stenosis |
|
Pulmonary artery stenosis, Supravalvular aortic stenosis, Peripheral arterial stenosis, Pulmonic ... |
OMIM:185500 |
| Noduli Cutanei, Multiple, With Urinary Tract Abnormalities |
|
Hydronephrosis, Duplicated collecting system |
OMIM:163850 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Atrial fibrillation, Do... |
OMIM:617912 |
| Indomethacin Embryofetopathy |
|
Ventricular septal defect, Cardiomyopathy, Multicystic kidney dysplasia, Atrial septal defect, Ab... |
ORPHA:1909 |
| Vesicoureteral Reflux 3 |
|
Hydronephrosis, Hydroureter, Vesicoureteral reflux |
OMIM:613674 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia, Hydroureter, Patent ductus arteriosus, Abnormality of the upper urinary tract, Hy... |
ORPHA:2547 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Renal hypoplasia, Ventricular septal defect, Intrauterine growth retardation, Atrial septal defec... |
ORPHA:75389 |
| 8P23.1 Duplication Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Hydronephrosis, Pulmonic stenosis |
ORPHA:251076 |
| Truncus Arteriosus |
|
Truncus arteriosus, Abnormal coronary artery morphology, Patent ductus arteriosus, Pulmonary edem... |
ORPHA:3384 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Complete atrioventricular canal defect, Ventricular septal defect, Double outlet right ventricle,... |
OMIM:613854 |
| Atrial Septal Defect 2 |
|
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect |
OMIM:607941 |
| Dysmyelination With Jaundice |
|
Hydronephrosis, Hypoplasia of penis, Hydroureter |
OMIM:224250 |
| Encephalocraniocutaneous Lipomatosis |
|
Ventricular septal defect, Hydronephrosis, Microphthalmia, Peripheral pulmonary artery stenosis, ... |
OMIM:613001 |
| Cayler Cardiofacial Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus |
OMIM:125520 |
| Prune Belly Syndrome |
|
Urethral valve, Hydronephrosis, Congenital posterior urethral valve, Abnormal heart morphology, P... |
OMIM:100100 |
| Pulmonary Atresia-Intact Ventricular Septum Syndrome |
|
Abnormal tricuspid valve morphology, Pulmonary artery atresia, Patent ductus arteriosus |
ORPHA:1208 |
| Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect, Pulmonary artery atresia |
OMIM:178370 |
| Pulmonary Atresia With Intact Ventricular Septum |
|
Pulmonary artery atresia, Hypoplastic right heart |
OMIM:265150 |
| Noonan Syndrome 9 |
|
Ventricular septal defect, Coarctation of aorta, Hydroureter, Pulmonic stenosis |
OMIM:616559 |
| Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Polycystic kidney dysplasia, Vascular dilatation |
OMIM:614859 |
| RCAD (renal cysts and diabetes) |
|
Multiple renal cysts |
DECIPHER:47 |
| Renal Tubular Dysgenesis |
|
Proximal tubulopathy, Tetralogy of Fallot, Multiple renal cysts, Nephropathy, Renotubular dysgene... |
ORPHA:3033 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Dextrocardia, Hypertension, Situs inversus totalis, Hepatic cysts, Stage 5 chronic kidney disease... |
OMIM:613095 |
| Ritscher-Schinzel Syndrome 1 |
|
Hypospadias, Ventricular septal defect, Hydronephrosis, Intrauterine growth retardation, Double o... |
OMIM:220210 |
| 2p15-16.1 microdeletion syndrome |
|
Optic disc hypoplasia, Hydronephrosis |
DECIPHER:70 |
| Renal Hypodysplasia/Aplasia 3 |
|
Horseshoe kidney, Hydronephrosis, Renal agenesis, Renal dysplasia, Multicystic kidney dysplasia, ... |
OMIM:617805 |
| Renal Dysplasia |
|
Abnormal renal calyx morphology, Chronic kidney disease, Hypertension, Abnormal nephron morpholog... |
ORPHA:93108 |
| Gombo Syndrome |
|
Abnormal heart morphology, Microphthalmia |
OMIM:233270 |
| Renal Dysplasia, Cystic, Susceptibility To |
|
Cystic renal dysplasia, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal ins... |
OMIM:601331 |
| Diabetic Embryopathy |
|
Abnormal aortic morphology, Ventricular septal defect, Ureteral duplication, Hydronephrosis, Tran... |
ORPHA:1926 |
| Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Syncope, Patent ductus arteriosus, Transient ischemic attack, Anomalous pu... |
ORPHA:1330 |
| Urofacial Syndrome 1 |
|
Urethral valve, Hydronephrosis, Recurrent urinary tract infections, Enuresis, Urethral obstructio... |
OMIM:236730 |
| Bardet-Biedl Syndrome 16 |
|
Renal agenesis, Renal dysplasia, Renal cyst, Bronchiolitis, Recurrent respiratory infections, Ren... |
OMIM:615993 |
| Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Hydronephrosis, Hydroureter |
OMIM:618240 |
| Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Hydroureter, Vascular dilatation, Nephrolithiasis, Vesicoureteral reflux |
OMIM:617219 |
| Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Hypertension, Hepatic cysts, Polycystic kidney dysplasia, Dilatation of the cerebral artery |
OMIM:600666 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Abnormal heart morphology, Recurrent respiratory infections, Atrial septal defect |
OMIM:617744 |
| 46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Hypospadias, Ventricular septal defect, Renal agenesis, Intrauterine growth retardation, Bilatera... |
OMIM:611812 |
| Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Renal cyst, Abnormality of the kidney |
OMIM:615987 |
| Microphthalmia, Syndromic 9 |
|
Truncus arteriosus, Single ventricle, Patent ductus arteriosus, Bilateral lung agenesis, Ventricu... |
OMIM:601186 |
| Ileal Neuroendocrine Tumor |
|
Right ventricular failure, Hydronephrosis, Tricuspid stenosis, Palpitations, Arterial occlusion, ... |
ORPHA:100078 |
| Jejunal Neuroendocrine Tumor |
|
Right ventricular failure, Hydronephrosis, Tricuspid stenosis, Palpitations, Arterial occlusion, ... |
ORPHA:100077 |
| Testicular Anomalies With Or Without Congenital Heart Disease |
|
Perineal hypospadias, Micropenis, Tetralogy of Fallot, Microphallus |
OMIM:615542 |
| Congenital Tricuspid Stenosis |
|
Tricuspid stenosis, Pulmonary arterial hypertension, Tricuspid regurgitation, Congestive heart fa... |
ORPHA:95459 |
| Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Renal hypoplasia, Ventricular septal defect, Truncus arteriosus, Renal cyst |
OMIM:228940 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Ventricular septal defect, Double outlet right ventricle, Atrial situs ambiguous, Hypoplastic lef... |
OMIM:617205 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Interrupted aortic arch, Ventricular septal defect, Ureteral duplication, Truncus arteriosus, Int... |
OMIM:600001 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Abnormal aortic morphology, Ventricular septal defect, Renal hypoplasia/aplasia, Abnormality of t... |
ORPHA:1166 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Hypospadias, Bicuspid aortic valve, Dysplastic tricuspid valve, Patent ductus arteriosus, Misalig... |
OMIM:265380 |
| Thymic-Renal-Anal-Lung Dysplasia |
|
Ureteral agenesis, Intrauterine growth retardation, Renal agenesis, Ureteral dysgenesis |
OMIM:274265 |
| Atrial Septal Defect 5 |
|
Atrial septal defect |
OMIM:612794 |
| Heart Defects-Limb Shortening Syndrome |
|
Ventricular septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology,... |
ORPHA:1354 |
| Scimitar Syndrome |
|
Left-to-right shunt, Truncus arteriosus, Mitral atresia, Single ventricle, Patent ductus arterios... |
ORPHA:185 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Hypospadias, Ventricular septal defect, Double outlet right ventricle, Patent ductus arteriosus, ... |
OMIM:618316 |
| 8P23.1 Microdeletion Syndrome |
|
Hypertrophic cardiomyopathy, Hypospadias, Abnormal aortic morphology, Intrauterine growth retarda... |
ORPHA:251071 |
| Thomas Syndrome |
|
Multicystic kidney dysplasia, Hypoplastic left heart, Renal hypoplasia/aplasia |
ORPHA:3316 |
| Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Ectopic kidney, Hydronephrosis, Renal cyst, Vesicoureteral reflux |
OMIM:618270 |
| Recombinant Chromosome 8 Syndrome |
|
Ventricular septal defect, Hydronephrosis, Double outlet right ventricle, Patent ductus arteriosu... |
OMIM:179613 |
| Hadziselimovic Syndrome |
|
Renal hypoplasia, Ventricular septal defect, Ventricular hypertrophy, Atrial septal defect, Tetra... |
OMIM:612946 |
| Nephronophthisis 20 |
|
Renal insufficiency, Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease |
OMIM:617271 |
| Urofacial Syndrome 2 |
|
Hydronephrosis, Urinary urgency, Recurrent urinary tract infections, Vesicoureteral reflux, Enure... |
OMIM:615112 |
| Meckel Syndrome, Type 11 |
|
Polycystic kidney dysplasia |
OMIM:615397 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Atrioventricular canal defect, Coarctation of aorta, Hypoplastic left ... |
OMIM:615779 |
| Kleefstra Syndrome |
|
Hypospadias, Bicuspid aortic valve, Ventricular septal defect, Hydronephrosis, Coarctation of aor... |
ORPHA:261494 |
| Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
| Duodenal Neuroendocrine Tumor |
|
Right ventricular failure, Hydronephrosis, Tricuspid stenosis, Palpitations, Melena, Pulmonic ste... |
ORPHA:100076 |
| Bardet-Biedl Syndrome 6 |
|
Hypospadias, Renal cyst |
OMIM:605231 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Pulmonary hypoplasia, Pancreatic cysts, Renal dysplasia, Hepatic cysts, Patent ductus arteriosus,... |
OMIM:208540 |
| Distal Tetrasomy 15Q |
|
Horseshoe kidney, Hydronephrosis, Intrauterine growth retardation, Abnormal heart morphology, Pat... |
ORPHA:314588 |
| Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia |
|
Ventricular septal defect, Tetralogy of Fallot, Hypoplastic right heart |
OMIM:601348 |
| Diamond-Blackfan Anemia 1 |
|
Renal hypoplasia, Ventricular septal defect, Intrauterine growth retardation, Tricuspid stenosis,... |
OMIM:105650 |
| Fanconi Anemia, Complementation Group O |
|
Abnormal heart morphology, Hydronephrosis, Renal cyst, Stage 5 chronic kidney disease |
OMIM:613390 |
| Alagille Syndrome |
|
Hypertension, Ventricular septal defect, Abnormality of the ureter, Intrauterine growth retardati... |
ORPHA:52 |
| Wolfram Syndrome, Mitochondrial Form |
|
Hydronephrosis, Hydroureter |
OMIM:598500 |
| Keutel Syndrome |
|
Ventricular septal defect, Pulmonary arterial hypertension, Pulmonary artery stenosis, Recurrent ... |
ORPHA:85202 |
| Ring Chromosome 8 Syndrome |
|
Hydronephrosis, Abnormality of the ureter |
ORPHA:1450 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Interrupted aortic arch, Ventricular septal defect, Ureteral duplication, Intrauterine growth ret... |
ORPHA:2255 |
| Adams-Oliver Syndrome 4 |
|
Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus |
OMIM:615297 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Truncus arteriosus, Abnormal heart morphology, Atrial septal defect, E... |
ORPHA:401935 |
| Ciliary Dyskinesia, Primary, 39 |
|
Dextrocardia, Double outlet right ventricle, Recurrent lower respiratory tract infections, Bronch... |
OMIM:618254 |
| Ventricular Septal Defect 1 |
|
Ventricular septal defect, Atrial septal defect, Pulmonic stenosis |
OMIM:614429 |
| Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Dextrocardia, Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mir... |
OMIM:606217 |
| Spinal Muscular Atrophy, Type I |
|
Ventricular septal defect, Atrial septal defect, Recurrent respiratory infections |
OMIM:253300 |
| Geleophysic Dysplasia 2 |
|
Mitral valve prolapse, Tricuspid stenosis, Mitral regurgitation, Pulmonary arterial hypertension,... |
OMIM:614185 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Single ventricle, Patent ductus arteriosus, Dextrocardia, Ventricular septal defect, Intrauterine... |
OMIM:270100 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Myxomatous mitral valve degeneration, Bicuspid aortic valve, Ventricular septal defect, Atrial fi... |
OMIM:614980 |
| 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 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Abnormal cardiac septum morphology, Polycystic kidney dysplasia, Pericardial effusion |
OMIM:608776 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hypertension, Pulmonary hypoplasia, Pancreatic cysts, Hepatic cysts, Tubulointerstitial fibrosis,... |
OMIM:263200 |
| Meckel Syndrome 13 |
|
Polycystic kidney dysplasia |
OMIM:617562 |
| Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Bicuspid aortic valve, Intrauterine growth retardation, Peripheral pulmonary artery stenosis, Pel... |
OMIM:300707 |
| Autosomal Recessive Cutis Laxa Type 1 |
|
Abnormal systemic arterial morphology, Abnormal cardiac ventricular function, Intrauterine growth... |
ORPHA:90349 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Hydronephrosis, Emphysema, Vascular dilatation, Pulmonary artery stenosis, Pulmonary hypoplasia, ... |
OMIM:613177 |
| Cat-Eye Syndrome |
|
Hydronephrosis, Microphthalmia, Intrauterine growth retardation, Abnormal localization of kidney,... |
ORPHA:195 |
| Distal 7Q11.23 Microdeletion Syndrome |
|
Atrial septal defect, Patent ductus arteriosus |
ORPHA:254351 |
| Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Horseshoe kidney, Renal agenesis, Mitral atresia, Aortic regurgitation, Abnormal cardiac septum m... |
ORPHA:140952 |
| Penile Agenesis |
|
Cystic renal dysplasia, Bilateral renal hypoplasia, Ventricular septal defect, Hydronephrosis, Ur... |
ORPHA:49 |
| Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Retinal arteriolar tortuosity, Dilatation of the cerebral artery, Hematuria, Renal cyst, Raynaud ... |
OMIM:611773 |
| Cystic Hamartoma Of Lung And Kidney |
|
Hypertension, Recurrent respiratory infections, Multicystic kidney dysplasia, Pulmonary fibrosis |
ORPHA:2111 |
| Van Esch-O'Driscoll Syndrome |
|
Ventricular septal defect, Intrauterine growth retardation, Atrial septal defect, Pulmonary valve... |
OMIM:301030 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Interrupted aortic arch, Ventricular septal defect, Truncus arteriosus, Tricuspid atresia, Systol... |
OMIM:617478 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormality of blood circulation, Abnormal coronary artery morphology, Levotransposition of the g... |
ORPHA:860 |
| Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Abnormality of the urinary system, Hydronephrosis |
ORPHA:2669 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Atrial fibrillation, Subvalvular aortic stenosis, Left ventricular hyp... |
OMIM:108900 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Dextrocardia, Horseshoe kidney, Ventricular septal defect, Renal agenesis, Mitral atresia, Double... |
OMIM:306955 |
| Mesoaxial Hexadactyly And Cardiac Malformation |
|
Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus, Pulmonic stenosis |
OMIM:249670 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Atrial fibrillation, Atrioventricular dissociation, Persistent left superior vena cava, Abnormal ... |
OMIM:614954 |
| Polysyndactyly With Cardiac Malformation |
|
Ventricular septal defect, Atrial septal defect, Hepatic cysts, Renal cyst |
OMIM:263630 |
| Meckel Syndrome, Type 4 |
|
Meningocele, Ventricular septal defect, Microphthalmia, Intrauterine growth retardation, Renal cy... |
OMIM:611134 |
| Wolfram Syndrome 1 |
|
Hydronephrosis, Hydroureter, Cardiomyopathy, Neurogenic bladder |
OMIM:222300 |
| White Forelock With Malformations |
|
Atrial septal defect, Prominent veins on trunk |
OMIM:277740 |
| Macdermot-Winter Syndrome |
|
Hydronephrosis, Intrauterine growth retardation |
OMIM:247990 |
| Hanac Syndrome |
|
Hematuria, Renal insufficiency, Multiple renal cysts |
ORPHA:73229 |
| Codas Syndrome |
|
Ventricular septal defect, Hydroureter |
ORPHA:1458 |
| Recombinant 8 Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Tetralogy of Fallot, P... |
ORPHA:96167 |
| Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Truncus arteriosus, Double outlet right ventricle, Coarct... |
OMIM:217095 |
| Carpenter Syndrome 1 |
|
Ventricular septal defect, Hydronephrosis, Patent ductus arteriosus, Pulmonic stenosis, Transposi... |
OMIM:201000 |
| Trisomy 17P |
|
Urethral valve, Hydronephrosis, Intrauterine growth retardation, Hypoplasia of penis, Urethral st... |
ORPHA:261290 |
| Ellis Van Creveld Syndrome |
|
Dextrocardia, Hypospadias, Ventricular septal defect, Aplasia/Hypoplasia of the lungs, Abnormalit... |
ORPHA:289 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Abnormal heart morphology, Polycystic kidney dysplasia, Pulmonary hypoplasia, Abnormal lung lobation |
OMIM:263210 |
| Hyperparathyroidism 2 With Jaw Tumors |
|
Renal cortical adenoma, Nephrolithiasis, Polycystic kidney dysplasia, Papillary renal cell carcin... |
OMIM:145001 |
| Joubert Syndrome 18 |
|
Horseshoe kidney, Ventricular septal defect, Intrauterine growth retardation |
OMIM:614815 |
| Trisomy 13 |
|
Ventricular septal defect, Abnormality of the ureter, Microphthalmia, Hydronephrosis, Intrauterin... |
ORPHA:3378 |
| Syndromic Diarrhea |
|
Bicuspid aortic valve, Ventricular septal defect, Renal hypoplasia, Intrauterine growth retardati... |
ORPHA:84064 |
| Eng-Strom Syndrome |
|
Ventricular septal defect, Intrauterine growth retardation, Abnormal cardiac septum morphology |
ORPHA:1937 |
| Congenital Megacalycosis |
|
Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol... |
ORPHA:93109 |
| Microphthalmia, Syndromic 12 |
|
Ventricular septal defect, Hypoplastic left atrium, Microphthalmia, Anophthalmia, Pulmonary hypop... |
OMIM:615524 |
| Fadd-Related Immunodeficiency |
|
Ventricular septal defect, Pulmonary artery atresia |
ORPHA:306550 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Dextrocardia, Interrupted aortic arch, Interrupted inferior vena cava with azygous continuation, ... |
OMIM:616749 |
| Aortic Valve Disease 1 |
|
Bicuspid aortic valve, Ventricular septal defect, Double outlet right ventricle, Mitral atresia, ... |
OMIM:109730 |
| Pallister-Hall Syndrome |
|
Renal hypoplasia, Ventricular septal defect, Hydronephrosis, Microphthalmia, Intrauterine growth ... |
OMIM:146510 |
| Renal Hypoplasia |
|
Hypertension, Hydronephrosis, Abnormality of the ureter, Urethral valve, Pelvic kidney, Glomerulo... |
ORPHA:93101 |
| Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Double outlet right ventricle, Abnormal heart morphology, Coarctation of aorta, Patent ductus art... |
OMIM:618164 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Hypospadias, Ventricular septal defect, Peripheral pulmonary artery stenosis, Double outlet right... |
ORPHA:163956 |
| Right Atrial Isomerism |
|
Dextrocardia, Complete atrioventricular canal defect, Ventricular septal defect, Right atrial iso... |
OMIM:208530 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Left-to-right shunt, Abnormal descending aorta morphology, Patent ductus arteriosus, Anomalous or... |
ORPHA:99050 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Ventricular septal defect, Truncus arteriosus, Unilateral renal agenesis |
OMIM:601355 |
| Mandibulofacial Dysostosis With Alopecia |
|
Bicuspid aortic valve, Hydroureter |
OMIM:616367 |
| Trisomy 1Q |
|
Ventricular septal defect, Hydronephrosis, Anophthalmia, Congenital megaureter, Patent ductus art... |
ORPHA:261344 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Abnormal systemic arterial morphology, Hypertension, Mitral valve prolapse, Pancreatic cysts, Aor... |
ORPHA:730 |
| Dislocation Of Hip, Congenital, With Hyperextensibility Of Fingers And Facial Dysmorphism |
|
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Vesicoureteral reflux |
OMIM:601450 |
| Atresia Of Urethra |
|
Pulmonary insufficiency, Patent urachus, Hydronephrosis, Renal dysplasia, Megacystis, Bladder fis... |
ORPHA:105 |
| Macrosomia With Microphthalmia, Lethal |
|
Microphthalmia, Respiratory infections in early life |
OMIM:248110 |
| Mmep Syndrome |
|
Ventricular septal defect, Microphthalmia |
ORPHA:3434 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome |
|
Ventricular septal defect, Hydronephrosis, Peripheral pulmonary artery stenosis, Duplicated colle... |
OMIM:280000 |
| Humero-Radio-Ulnar Synostosis |
|
Abnormality of the ureter, Abnormality of the upper urinary tract |
ORPHA:3266 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Dilated cardiomyopathy, Pulmonary insufficiency, Renal agenesis, Mitral regurgitation, Double out... |
ORPHA:2326 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Right ventricular failure, Mitral atresia, Single ventricle, Low-output congestive heart failure,... |
ORPHA:99125 |
| Hyperphosphatasia With Mental Retardation Syndrome 2 |
|
Atrial septal defect, Peripheral pulmonary artery stenosis, Vesicoureteral reflux |
OMIM:614749 |
| Marden-Walker Syndrome |
|
Hypospadias, Dextrocardia, Ventricular septal defect, Renal agenesis, Hydronephrosis, Abnormal pe... |
ORPHA:2461 |
| Atrial Septal Defect 4 |
|
Atrial septal defect, Patent foramen ovale, Coarctation of aorta |
OMIM:611363 |
| Immunodeficiency, Common Variable, 6 |
|
Macroscopic hematuria, Hydronephrosis, Mesangial Immune complex deposition, Glomerulonephritis, S... |
OMIM:613496 |
| Oculofaciocardiodental Syndrome |
|
Microphthalmia, Mitral valve prolapse, Peripheral pulmonary artery stenosis, Patent ductus arteri... |
ORPHA:2712 |
| Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects |
|
Ventricular septal defect, Microphthalmia, Intrauterine growth retardation, Atrioventricular cana... |
OMIM:600123 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Hydronephrosis, Atrioventricular canal defect, Urethral atresia, Transposition of the great arter... |
OMIM:314390 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Focal segmental glomerulosclerosis, Intrauterine growth retardation, Renal cyst, Vascular dilatat... |
OMIM:617056 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hydronephrosis, Duplicated collecting system, Intrauterine growth retardation |
OMIM:617093 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Persistent left superior vena cava, Abnormal he... |
ORPHA:477817 |
| Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies |
|
Renal cyst |
OMIM:138790 |
| Czeizel-Losonci Syndrome |
|
Dextrocardia, Hydronephrosis, Myelomeningocele, Abnormality of the urinary system, Congenital meg... |
ORPHA:2437 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Hypospadias, Ventricular septal defect, Intrauterine growth retardation, Atrial septal defect, Pu... |
OMIM:300998 |
| Frontometaphyseal Dysplasia 1 |
|
Cor pulmonale, Hydronephrosis, Hydroureter, Mitral valve prolapse |
OMIM:305620 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Dilated cardiomyopathy, Ureteral duplication, Hydronephrosis, Antenatal intracerebral hemorrhage,... |
OMIM:608836 |
| 16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... |
ORPHA:261243 |
| Alagille Syndrome 1 |
|
Renal hypoplasia, Ventricular septal defect, Focal segmental glomerulosclerosis, Peripheral pulmo... |
OMIM:118450 |
| Phenobarbital Embryopathy |
|
Hypospadias, Tetralogy of Fallot, Abnormal mitral valve morphology |
ORPHA:1919 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Multicystic kidney dysplasia, Neoplasm of the heart, Hydroureter, Megacystis |
ORPHA:2241 |
| Fetal Trimethadione Syndrome |
|
Hypospadias, Ventricular septal defect, Intrauterine growth retardation, Transposition of the gre... |
ORPHA:1913 |
| 46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome |
|
Hydronephrosis, Urogenital sinus anomaly, Displacement of the urethral meatus, Multicystic kidney... |
ORPHA:2973 |
| Arterial Tortuosity Syndrome |
|
Hypertension, Ischemic stroke, Ventricular hypertrophy, Aortic regurgitation, Aortic tortuosity, ... |
OMIM:208050 |
| Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Atrial fibrillation, Mi... |
OMIM:604169 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hypertrophic cardiomyopathy, Cystic renal dysplasia, Truncus arteriosus, Pulmonary hypoplasia, Si... |
OMIM:615415 |
| Isolated Polycystic Liver Disease |
|
Gastrointestinal hemorrhage, Vascular dilatation, Multiple renal cysts |
ORPHA:2924 |
| Transketolase Deficiency |
|
Ventricular septal defect, Abnormal heart morphology, Renal cyst, Patent ductus arteriosus, Atria... |
ORPHA:488618 |
| Ogden Syndrome |
|
Pulmonary artery stenosis, Ventricular septal defect, Arrhythmia, Cardiogenic shock |
ORPHA:276432 |
| Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency |
|
Hypertension, Ventricular septal defect, Intrauterine growth retardation, Pulmonary arterial hype... |
OMIM:608406 |
| 22Q11.2 Duplication Syndrome |
|
Interrupted aortic arch, Ventricular septal defect, Hydronephrosis, Urethral stenosis, Displaceme... |
ORPHA:1727 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 |
|
Fetal megacystis, Hydroureter |
OMIM:249210 |
| Adams-Oliver Syndrome 1 |
|
Bicuspid aortic valve, Ventricular septal defect, Hypertension, Microphthalmia, Pulmonary arteria... |
OMIM:100300 |
| Renal Agenesis |
|
Hypertension, Ventricular septal defect, Renal agenesis, Aplasia/Hypoplasia of the bladder, Bilat... |
ORPHA:411709 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Hypospadias, Ventricular septal defect, Hydronephrosis, Intrauterine growth retardation, Double o... |
OMIM:301056 |
| Congenital Alveolar Capillary Dysplasia |
|
Bicuspid aortic valve, Ventricular septal defect, Hydronephrosis, Atrioventricular canal defect, ... |
ORPHA:210122 |
| Meacham Syndrome |
|
Horseshoe kidney, Ventricular septal defect, Conotruncal defect, Aplasia/Hypoplasia of the lungs,... |
ORPHA:3097 |
| Diamond-Blackfan Anemia 16 |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:617408 |
| Double Outlet Right Ventricle |
|
Ventricular septal defect, Truncus arteriosus, Double outlet right ventricle, Coarctation of aort... |
ORPHA:3426 |
| Verheij Syndrome |
|
Renal hypoplasia, Renal agenesis, Renal cyst, Abnormal cardiac septum morphology |
OMIM:615583 |
| Image Syndrome |
|
Hypospadias, Hydronephrosis, Intrauterine growth retardation |
ORPHA:85173 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Ventricular septal defect, Tricuspid stenosis, Mitral regurgitation, Ventricular hypertrophy, Aor... |
OMIM:143095 |
| X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Pulmonary artery stenosis, Hypospadias |
ORPHA:435938 |
| Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Polycystic kidney dysplasia, Renal angiomyolipoma |
OMIM:600273 |
| Li-Campeau Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Micropenis, Atrial septal defect, Patent for... |
OMIM:619189 |
| Geleophysic Dysplasia 1 |
|
Congestive heart failure, Aortic valve stenosis, Mitral stenosis, Tricuspid stenosis |
OMIM:231050 |
| Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Microphthalmia, Cardiomegaly, Patent ductus arteriosus, Tricuspid regu... |
OMIM:618652 |
| Cranioacrofacial Syndrome |
|
Ventricular septal defect, Pulmonic stenosis |
OMIM:122850 |
| Lethal Congenital Contracture Syndrome 2 |
|
Dilated cardiomyopathy, Ventricular septal defect, Hydronephrosis |
OMIM:607598 |
| Xk Aprosencephaly Syndrome |
|
Ventricular septal defect, Atrial septal defect, Microphthalmia |
ORPHA:3469 |
| Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Hypospadias, Atrial septal defect, Peripheral pulmonary artery stenosis |
ORPHA:436003 |
| Hypertelorism And Tetralogy Of Fallot |
|
Hypospadias, Patent ductus arteriosus, Tetralogy of Fallot, Tetralogy of Fallot with absent pulmo... |
OMIM:239711 |
| Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Hypospadias, Hydronephrosis, Orthostatic hypotension, Recurrent urinary tract infections, Stage 2... |
OMIM:191800 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Third degree atrioventricular block, Cardiac conduction abnormality, Single ventricle, Double out... |
ORPHA:216694 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Ventricular septal defect, Abnormal localization of kidney, Abnormal cardiac septum morphology, M... |
ORPHA:83473 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Ventricular septal defect, Intrauterine growth retardation, Patent ductus arteriosus, Micropenis,... |
OMIM:618142 |
| Bladder Exstrophy And Epispadias Complex |
|
Horseshoe kidney, Unilateral renal agenesis, Bladder exstrophy, Hydroureter, Epispadias |
OMIM:600057 |
| Aortic Arch Interruption |
|
Bicuspid aortic valve, Truncus arteriosus, Single ventricle, Patent ductus arteriosus, Intermitte... |
ORPHA:2299 |
| Femoral-Facial Syndrome |
|
Renal hypoplasia/aplasia, Polycystic kidney dysplasia, Abnormal localization of kidney, Long penis |
ORPHA:1988 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Cystic renal dysplasia, Myoglobinuria, Tubulointerstitial nephritis, Red-brown urine, Cardiomegal... |
ORPHA:228308 |
| Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Abnormal aortic morphology, Ventricular septal defect, Renal agenesis, Truncus arteriosus, Intrau... |
ORPHA:2516 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Renal cyst |
OMIM:614870 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Dextrocardia, Ventricular septal defect, Atrioventricular canal defect, Right aortic arch |
OMIM:613751 |
| Hardikar Syndrome |
|
Hypertension, Ventricular septal defect, Hydronephrosis, Hydroureter, Hematemesis, Coarctation of... |
OMIM:301068 |
| Maternal Phenylketonuria |
|
Ventricular septal defect, Intrauterine growth retardation, Double outlet right ventricle, Abnorm... |
ORPHA:2209 |
| Mckusick-Kaufman Syndrome |
|
Ventricular septal defect, Hydronephrosis, Patent ductus arteriosus, Urogenital sinus anomaly, Re... |
ORPHA:2473 |
| Adams-Oliver Syndrome 6 |
|
Renal hypoplasia, Ventricular septal defect, Truncus arteriosus, Tricuspid regurgitation, Portal ... |
OMIM:616589 |
| Tetraploidy |
|
Hydronephrosis, Aplasia/Hypoplasia of the lungs, Intrauterine growth retardation, Renal hypoplasi... |
ORPHA:3305 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Abnormal heart morphology, Polycystic kidney dysplasia, Intrauterine growth retardation, Aminoaci... |
OMIM:214110 |
| Congenital Heart Defects, Multiple Types, 7 |
|
Pulmonary artery atresia, Pulmonic stenosis, Right aortic arch, Aortopulmonary collateral arterie... |
OMIM:618780 |
| Coronary Arterial Fistula |
|
Coronary artery aneurysm, Bicuspid aortic valve, Syncope, Patent ductus arteriosus, Vascular dila... |
ORPHA:2041 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Ventricular septal defect, Optic disc hypoplasia, Optic nerve hypoplasia, Patent ductus arteriosu... |
ORPHA:79345 |
| 8Q12 Microduplication Syndrome |
|
Ventricular septal defect, Atrial septal defect, Vesicoureteral reflux |
ORPHA:228399 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Hydronephrosis, Portal hypertension, Megacystis, Hydroureter |
OMIM:619431 |
| Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
| Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
| Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Hydronephrosis, Recurrent aspiration pneumonia, Peripheral pulmonary artery stenosis, Right ventr... |
ORPHA:280633 |
| Hinman Syndrome |
|
Hydronephrosis, Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Renal insuff... |
ORPHA:84085 |
| Klippel-Trénaunay Syndrome |
|
Hematuria, Abnormal tricuspid valve morphology, Patent ductus arteriosus, Gastrointestinal hemorr... |
ORPHA:90308 |
| Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:2091 |
| Congenital Tricuspid Valve Dysplasia |
|
Intrauterine growth retardation, Pericardial effusion, Systolic heart murmur, Right ventricular h... |
ORPHA:555874 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Cystic renal dysplasia, Myoglobinuria, Tubulointerstitial nephritis, Red-brown urine, Cardiomyopa... |
ORPHA:157 |
| Transaldolase Deficiency |
|
Telangiectasia, Biventricular hypertrophy, Coarctation of aorta, Atrial septal defect, Abnormalit... |
ORPHA:101028 |
| 8p23.1 deletion syndrome |
|
Atrioventricular canal defect, Abnormal heart morphology, Atrial septal defect |
DECIPHER:39 |
| Campomelia, Cumming Type |
|
Polycystic kidney dysplasia, Pancreatic cysts |
OMIM:211890 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Persistent left superior vena cava, Double outlet right ventricle, Patent ductus arteriosus, Pulm... |
ORPHA:3304 |
| Trisomy 8P |
|
Hydronephrosis, Peripheral pulmonary artery stenosis, Dysplastic aortic valve, Abnormal lung loba... |
ORPHA:264450 |
| Cardiac-Urogenital Syndrome |
|
Dextrocardia, Patent urachus, Ventricular septal defect, Dysplastic tricuspid valve, Patent ductu... |
OMIM:618280 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Renal hypoplasia, Renal dysplasia, Renal cyst, Ureteral agenesis, Pulmonary hypoplasia |
OMIM:236500 |
| Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects |
|
Hydronephrosis, Myelomeningocele, Ureteral atresia |
OMIM:183802 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Horseshoe kidney, Bicuspid aortic valve, Bilateral microphthalmos, Unilateral microphthalmos |
OMIM:619318 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hydronephrosis, Abnormal heart morphology, Renal dysplasia, Polycystic kidney dysplasia, Unilater... |
ORPHA:2237 |
| Ogden Syndrome |
|
Premature ventricular contraction, Ventricular septal defect, Ventricular tachycardia, Torsade de... |
OMIM:300855 |
| Primary Pulmonary Hypoplasia |
|
Dextrocardia, Intrauterine growth retardation, Pneumothorax, Recurrent respiratory infections, Ur... |
ORPHA:2257 |
| Odontochondrodysplasia 1 |
|
Nephronophthisis, Recurrent respiratory infections, Pulmonary hypoplasia, Polycystic kidney dyspl... |
OMIM:184260 |
| Congenital Rubella Syndrome |
|
Ventricular septal defect, Microphthalmia, Intrauterine growth retardation, Aplasia/Hypoplasia of... |
ORPHA:290 |
| Arterial Tortuosity Syndrome |
|
Dilated cardiomyopathy, Myocarditis, Hypertrophic cardiomyopathy, Aortic dissection, Abnormal car... |
ORPHA:3342 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Ethylmalonic aciduria, Renal cortical cysts, Generalized aminoaciduria, Proximal tubulopathy, Glu... |
OMIM:231680 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Double outlet right ventricle, Atrial septal defect, Renal tubular dysfunction, Patent ductus art... |
OMIM:614886 |
| Ebstein Malformation Of The Tricuspid Valve |
|
Abnormal endocardium morphology, Atrial fibrillation, Patent ductus arteriosus, Cerebral ischemia... |
ORPHA:1880 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Ethylmalonic aciduria, Lacticaciduria, Abnormal heart morphology, Glutaric aciduria, Cardiomyopat... |
ORPHA:26791 |
| Nphp3-Related Meckel-Like Syndrome |
|
Renal dysplasia, Pulmonary hypoplasia, Multicystic kidney dysplasia |
ORPHA:3032 |
| Fanconi Anemia, Complementation Group I |
|
Horseshoe kidney, Ventricular septal defect, Renal hypoplasia, Microphthalmia, Intrauterine growt... |
OMIM:609053 |
| Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Hypospadias, Hypoplasia of penis, Tetralogy of Fallot, Aplasia/Hypoplasia of the lens |
ORPHA:1381 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Renal hypoplasia, Hydronephrosis, Renal agenesis, Abnormal heart morphology, Abnormal cardiac sep... |
OMIM:618494 |
| Bardet-Biedl Syndrome 4 |
|
Renal cyst, Abnormality of the kidney |
OMIM:615982 |
| Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, At... |
OMIM:610759 |
| Grange Syndrome |
|
Hypertension, Ventricular septal defect, Aortic regurgitation, Patent ductus arteriosus, Arterial... |
ORPHA:79094 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Horseshoe kidney, Ureteral duplication, Renal agenesis, Vascular dilatation, Ectopic kidney |
OMIM:602200 |
| Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
| Meacham Syndrome |
|
Dextrocardia, Bicuspid aortic valve, Ventricular septal defect, Horseshoe kidney, Persistent left... |
OMIM:608978 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Hypertension, Ventricular septal defect, Tachycardia, Patent ductus arteriosus, Micropenis, Atria... |
OMIM:613870 |
| Polycystic Kidney, Cataract, And Congenital Blindness |
|
Polycystic kidney dysplasia, Hypoplasia of the retina |
OMIM:263100 |
| Cardiomyopathy, Dilated, 1S |
|
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular arrhythmia, Coarctation of aorta, Pulm... |
OMIM:613426 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
| Cloacal Exstrophy |
|
Horseshoe kidney, Myelomeningocele, Hydroureter, Renal hypoplasia/aplasia, Ureteropelvic junction... |
ORPHA:93929 |
| 3C Syndrome |
|
Hypospadias, Ventricular septal defect, Hydronephrosis, Hypoplasia of penis, Abnormal mitral valv... |
ORPHA:7 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Hydronephrosis, Fetal megacystis, Hydroureter, Megacystis |
OMIM:619362 |
| Joubert Syndrome 39 |
|
Polycystic kidney dysplasia, Hypoplastic left heart |
OMIM:619562 |
| Microphthalmia, Lenz Type |
|
Hypospadias, Hydronephrosis, Microphthalmia, Renal hypoplasia/aplasia, Hydroureter |
ORPHA:568 |
| Nephrogenic Diabetes Insipidus |
|
Enuresis nocturna, Functional abnormality of the bladder, Hypovolemia, Hydroureter, Renal insuffi... |
ORPHA:223 |
| Atrial Septal Defect 1 |
|
Bicuspid aortic valve, Ventricular septal defect, Atrial septal dilatation, Persistent left super... |
OMIM:108800 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
| Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Syncope, Patent ductus arteriosus, Ventricular septal defect, Mitral regur... |
ORPHA:3092 |
| Meckel Syndrome, Type 7 |
|
Portal hypertension, Pancreatic cysts, Right ventricular hypertrophy, Situs inversus totalis, Mul... |
OMIM:267010 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Dilated cardiomyopathy, Ureteral obstruction, Hydronephrosis, Pneumonia, Urinary retention, Pneum... |
ORPHA:79404 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair |
|
Ventricular septal defect, Abnormality of the kidney |
OMIM:616901 |
| Phelan-Mcdermid Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Polycystic kidney dysplasia, Vesicoureteral ... |
OMIM:606232 |
| Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Ventricular septal defect, Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus |
OMIM:617044 |
| Fanconi Anemia |
|
Hypospadias, Abnormal localization of kidney, Patent ductus arteriosus, Hypertrophic cardiomyopat... |
ORPHA:84 |
| Tetralogy Of Fallot |
|
Tetralogy of Fallot |
OMIM:187500 |
| Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Renal cyst |
OMIM:174050 |
| Formiminoglutamic Aciduria |
|
Atrial septal defect, Abnormal concentration of acylcarnitine in the urine |
ORPHA:51208 |
| 6P22 Microdeletion Syndrome |
|
Hydronephrosis, Patent ductus arteriosus |
ORPHA:251046 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Ventricular septal defect, Peripheral pulmonary artery stenosis, Mitral regurgitation, Aortic roo... |
OMIM:617506 |
| 46,Xx Sex Reversal 5 |
|
Ventricular septal defect, Hypoplastic left heart, Secundum atrial septal defect, Urogenital sinu... |
OMIM:618901 |
| Serkal Syndrome |
|
Hypospadias, Ventricular septal defect, Abnormal penis morphology, Renal agenesis, Pulmonic steno... |
ORPHA:139466 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Cerebral artery atherosclerosis, Hypertension, Nephrotic syndrome, Abnormal mitral valve morpholo... |
ORPHA:1192 |
| T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Atrial septal defect |
OMIM:614868 |
| Cockayne Syndrome Type 3 |
|
Renal hypoplasia, Hydronephrosis, Microphthalmia, Urinary retention, Subdural hemorrhage, Aortic ... |
ORPHA:90324 |
| Stankiewicz-Isidor Syndrome |
|
Hypospadias, Ventricular septal defect, Ureteral duplication, Truncus arteriosus, Patent ductus a... |
OMIM:617516 |
| Pulmonary Hypertension, Primary, 1 |
|
Pulmonary artery vasoconstriction, Right ventricular failure, Telangiectasia, Hypertension, Arter... |
OMIM:178600 |
| Catel-Manzke Syndrome |
|
Ventricular septal defect, Atrial septal defect |
ORPHA:1388 |
| Primary Ciliary Dyskinesia |
|
Pulmonary situs ambiguus, Bronchiectasis, Persistent left superior vena cava, Situs inversus tota... |
ORPHA:244 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Bicuspid aortic valve, Ventricular septal defect, Hypertension, Mitral valve prolapse, Double out... |
ORPHA:371428 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Hyperechogenic kidneys, Renal hypoplasia, Optic nerve hypoplasia, Microphthalmia |
OMIM:617914 |
| Cardiomyopathy, Dilated, 2D |
|
Dilated cardiomyopathy, Reduced ejection fraction, Mitral regurgitation, Pulmonary arterial hyper... |
OMIM:619371 |
| Lower Limb Malformation-Hypospadias Syndrome |
|
Hypospadias, Abnormality of the ureter |
ORPHA:2487 |
| Short Rib-Polydactyly Syndrome |
|
Hypospadias, Intrauterine growth retardation, Abnormal heart morphology, Situs inversus totalis, ... |
ORPHA:1505 |
| Atrial Septal Defect 8 |
|
Atrial septal defect, Anomalous pulmonary venous return |
OMIM:614433 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hypospadias, Renal hypoplasia, Renal cyst, Polycystic kidney dysplasia, Pulmonary hypoplasia |
OMIM:614091 |
| Meckel Syndrome, Type 9 |
|
Multicystic kidney dysplasia |
OMIM:614209 |
| Leigh Syndrome With Nephrotic Syndrome |
|
Tubulointerstitial nephritis, Heavy proteinuria, Nephrotic syndrome, Intrauterine growth retardat... |
ORPHA:255249 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Ventricular septal defect, Tricuspid regurgitation, Micropenis, Atrial septal defect, Polycystic ... |
OMIM:263520 |
| Noonan Syndrome 4 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Ureteral duplication, Hydronephrosis, Pul... |
OMIM:610733 |
| Nephronophthisis 2 |
|
Pulmonary insufficiency, Hypertension, Chronic tubulointerstitial nephritis, Situs inversus total... |
OMIM:602088 |
| Autosomal Dominant Cutis Laxa |
|
Intrauterine growth retardation, Peripheral pulmonary artery stenosis, Bronchiectasis, Mitral reg... |
ORPHA:90348 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Nephroblastoma, Ventricular septal defect, Microphthalmia |
OMIM:602501 |
| Distal Trisomy 6P |
|
Renal hypoplasia, Hydronephrosis, Intrauterine growth retardation, Abnormal lung lobation, Abnorm... |
ORPHA:1745 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Intrauterine growth retardation, Microphthalmia |
OMIM:616570 |
| Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Ventricular septal defect, Atrial septal defect |
OMIM:608227 |
| Lambert Syndrome |
|
Hypospadias, Ventricular septal defect, Intrauterine growth retardation |
ORPHA:1296 |
| Neuroendocrine Neoplasm Of Appendix |
|
Palpitations, Tricuspid stenosis, Heart murmur, Hypotension |
ORPHA:100079 |
| Werner Syndrome |
|
Hypertension, Neoplasm of the lung, Telangiectasia of the skin, Myocardial infarction, Congestive... |
ORPHA:902 |
| Mosaic Trisomy 9 |
|
Dextrocardia, Horseshoe kidney, Ventricular septal defect, Hydronephrosis, Microphthalmia, Intrau... |
ORPHA:99776 |
| Ochoa Syndrome |
|
Hypertension, Hydronephrosis, Recurrent urinary tract infections, Urinary incontinence, Vesicoure... |
ORPHA:2704 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Abnormal lung lobation, Nephrocalcinosis, Abnormal heart morphology, Restrictive cardiomyopathy, ... |
ORPHA:369837 |
| Immunodeficiency 49 |
|
Pulmonary artery stenosis |
OMIM:617237 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Ventricular septal defect, Ventricular septal hypertrophy, Wolff-Parkinson-White syndrome |
OMIM:614947 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Hypospadias, Hydronephrosis, Abnormal cardiac septum morphology |
OMIM:616449 |
| Branchiootorenal Syndrome 1 |
|
Renal agenesis, Renal malrotation, Renal dysplasia, Polycystic kidney dysplasia, Abnormal renal c... |
OMIM:113650 |
| Oligomeganephronia |
|
Bilateral renal hypoplasia, Hypertension, Renal tubular atrophy, Abnormal nephron morphology, Abn... |
ORPHA:2260 |
| Beta-Mercaptolactate Cysteine Disulfiduria |
|
Abnormality of the ureter, Atrial septal defect |
ORPHA:1035 |
| Hypoplastic Left Heart Syndrome |
|
Mitral atresia, Mitral stenosis, Patent ductus arteriosus, Hypoplastic left heart, Atrial septal ... |
ORPHA:2248 |
| Khan-Khan-Katsanis Syndrome |
|
Renal hypoplasia, Buphthalmos, Hydronephrosis, Intrauterine growth retardation, Abnormal heart mo... |
OMIM:618460 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation |
|
Hematuria, Microphthalmia |
OMIM:120433 |
| Meckel Syndrome, Type 1 |
|
Abnormality of the ureter, Microphthalmia, Renal agenesis, Intrauterine growth retardation, Coarc... |
OMIM:249000 |
| Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Ventricular septal defect, Atrial septal defect, Pulmonic stenosis |
OMIM:614262 |
| Timothy Syndrome |
|
Ventricular septal defect, Prolonged QT interval, Pneumonia, Cardiomegaly, Bradycardia, Patent du... |
OMIM:601005 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Atrial septal defect, Tetralogy of Fallot, Pulmonary arterial hypertension |
OMIM:300887 |
| Diamond-Blackfan Anemia 6 |
|
Ventricular septal defect, Mitral valve prolapse, Mitral regurgitation, Ventricular hypertrophy, ... |
OMIM:612561 |
| Aortic Valve Disease 3 |
|
Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Aortic root aneurysm |
OMIM:618496 |
| Birt-Hogg-Dube Syndrome |
|
Renal cell carcinoma, Renal cyst, Multiple pulmonary cysts, Spontaneous pneumothorax, Renal neoplasm |
OMIM:135150 |
| Dextrocardia With Unusual Facies And Microphthalmia |
|
Dextrocardia, Anophthalmia, Microphthalmia |
OMIM:221950 |
| Posterior Urethral Valve |
|
Hypertension, Hydronephrosis, Urinary retention, Urethral stenosis, Congenital posterior urethral... |
ORPHA:93110 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Cystic renal dysplasia, Ectopic kidney, Abnormality of the kidney |
OMIM:613730 |
| Beaulieu-Boycott-Innes Syndrome |
|
Horseshoe kidney, Ventricular septal defect, Renal agenesis, Patent ductus arteriosus, Recurrent ... |
OMIM:613680 |
| Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Hydronephrosis |
OMIM:235760 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Renal corticomedullary cysts, Ventricular septal defect, Vascular dilatation, Renal insufficiency |
OMIM:219730 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Truncus arteriosus, Coarctation of aorta, Patent ductus arteriosus, Transp... |
OMIM:612474 |
| Papillorenal Syndrome |
|
Horseshoe kidney, Renal hypoplasia, Microphthalmia, Renal malrotation, Renal cyst, Nephrolithiasi... |
OMIM:120330 |
| Faciothoracogenital Syndrome |
|
Microphthalmia, Glandular hypospadias |
OMIM:227320 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Ventricular septal defect, Nephrocalcinosis, Right ventricular hypertrophy, Renal tubular acidosi... |
OMIM:208085 |
| Mckusick-Kaufman Syndrome |
|
Hydronephrosis, Hydroureter, Vesicovaginal fistula, Polycystic kidney dysplasia, Pulmonary hypopl... |
OMIM:236700 |
| Cerebrooculofacioskeletal Syndrome 2 |
|
Micropenis, Microphthalmia, Intrauterine growth retardation |
OMIM:610756 |
| Caudal Duplication Anomaly |
|
Ureteral duplication |
OMIM:607864 |
| Paternal Uniparental Disomy Of Chromosome 5 |
|
Abnormally large globe, Secundum atrial septal defect, Renal duplication |
ORPHA:96190 |
| Nephrotic Syndrome, Type 11 |
|
Dilated cardiomyopathy, Renal tubular atrophy, Ventricular septal defect, Focal segmental glomeru... |
OMIM:616730 |
| Heterotaxy, Visceral, 2, Autosomal |
|
Dextrocardia, Atrioventricular canal defect, Situs inversus totalis, Double outlet right ventricl... |
OMIM:605376 |
| Kapur-Toriello Syndrome |
|
Ventricular septal defect, Microphthalmia, Patent ductus arteriosus, Tetralogy of Fallot, Hypopla... |
ORPHA:2328 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hydronephrosis, Mitral regurgitation, Pulmonary arterial hypertension, Patent ductus arteriosus, ... |
OMIM:612541 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Ventricular septal defect, Peripheral pulmonary artery stenosis, Renal tubular acidosis, Recurren... |
OMIM:619575 |
| Emanuel Syndrome |
|
Renal hypoplasia, Ventricular septal defect, Renal agenesis, Truncus arteriosus, Intrauterine gro... |
OMIM:609029 |
| Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Atrial septal defect |
ORPHA:52056 |
| Ureter, Bifid Or Double |
|
Ureteral duplication |
OMIM:191550 |
| Joubert Syndrome 16 |
|
Nephronophthisis, Renal cyst |
OMIM:614465 |
| X-Linked Intellectual Disability, Schimke Type |
|
Hydronephrosis, Vesicoureteral reflux |
ORPHA:85285 |
| Faciocardiorenal Syndrome |
|
Horseshoe kidney, Endocardial fibroelastosis, Hydroureter |
OMIM:227280 |
| Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, Anomalous origin of ri... |
OMIM:610338 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Buphthalmos, Intrauterine growth retardation, Pancreatic cysts, Renal cyst, Polycystic kidney dys... |
OMIM:610199 |
| 22Q11.2 Deletion Syndrome |
|
Hypospadias, Truncus arteriosus, Patent ductus arteriosus, Gastrointestinal hemorrhage, Varicose ... |
ORPHA:567 |
| Rhyns Syndrome |
|
Nephronophthisis, Multicystic kidney dysplasia |
ORPHA:140976 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Left-to-right shunt, Hypospadias, Horseshoe kidney, Abnormal heart morphology, Perimembranous ven... |
ORPHA:363444 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Abnormally large globe, Ventricular septal defect, Micropenis |
OMIM:618504 |
| Epidermal Nevus Syndrome |
|
Polycystic kidney dysplasia, Aortic aneurysm |
ORPHA:35125 |
| Orofaciodigital Syndrome Xv |
|
Hydronephrosis |
OMIM:617127 |
| Methimazole Embryofetopathy |
|
Hypospadias, Ventricular septal defect, Abnormal aortic morphology, Intrauterine growth retardati... |
ORPHA:1923 |
| Abruzzo-Erickson Syndrome |
|
Hypospadias, Atrial septal defect, Abnormal localization of kidney, Coronal hypospadias |
ORPHA:921 |
| Megalencephaly |
|
Atrial septal defect, Long penis |
ORPHA:2477 |
| Suleiman-El-Hattab Syndrome |
|
Ventricular septal defect, Hydronephrosis, Atrial septal defect, Recurrent respiratory infections... |
OMIM:618950 |
| Microcephaly-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Ventricular septal defect, Intrauterine growth retardation |
ORPHA:2515 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Recurrent respiratory infections, Microphthalmia |
ORPHA:2432 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Hypertension, Ventricular septal defect, Intrauterine growth retardation, Patent ductus arteriosu... |
OMIM:617021 |
| Orofaciodigital Syndrome I |
|
Hypertension, Pancreatic cysts, Myelomeningocele, Abnormal heart morphology, Hepatic cysts, Polyc... |
OMIM:311200 |
| Thakker-Donnai Syndrome |
|
Ventricular septal defect, Hydronephrosis, Intrauterine growth retardation, Transposition of the ... |
ORPHA:1780 |
| Thauvin-Robinet-Faivre Syndrome |
|
Ventricular septal defect, Mitral valve prolapse, Renal malrotation, Renal dysplasia, Renal cyst,... |
OMIM:617107 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Hypospadias, Hydronephrosis, Intrauterine growth retardation, Left ventricular hypertrophy, Renal... |
OMIM:611209 |
| Williams-Beuren Syndrome |
|
Myxomatous mitral valve degeneration, Bicuspid aortic valve, Peripheral pulmonary artery stenosis... |
OMIM:194050 |
| Microcephaly-Capillary Malformation Syndrome |
|
Ventricular septal defect, Right ventricular hypertrophy, Atrial septal defect, Vesicoureteral re... |
OMIM:614261 |
| Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot |
OMIM:187501 |
| Tetraamelia Syndrome 2 |
|
Ventricular septal defect, Micropenis, Hypoplastic pulmonary veins |
OMIM:618021 |
| Igg4-Related Aortitis |
|
Aortic dissection, Abnormal aortic arch morphology, Ascending tubular aorta aneurysm, Hydronephro... |
ORPHA:449400 |
| Williams Syndrome |
|
Bicuspid aortic valve, Peripheral pulmonary artery stenosis, Patent ductus arteriosus, Cerebral i... |
ORPHA:904 |
| Simpson-Golabi-Behmel Syndrome |
|
Hypospadias, Ventricular septal defect, Ureteral duplication, Prolonged QT interval, Hydronephros... |
ORPHA:373 |
| Meckel Syndrome, Type 2 |
|
Meningocele, Intrauterine growth retardation, Microphthalmia, Renal cyst |
OMIM:603194 |
| Mungan Syndrome |
|
Renal hypoplasia, Perimembranous ventricular septal defect, Tricuspid regurgitation, Pulmonic ste... |
OMIM:611376 |
| Joubert Syndrome 35 |
|
Recurrent urinary tract infections, Multicystic kidney dysplasia, Hydronephrosis, Renal fibrosis |
OMIM:618161 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Hypospadias, Ventricular septal defect, Hydronephrosis, Intrauterine... |
OMIM:616897 |
| Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Bicuspid aortic valve, Hypertension, Pulmonary arterial hypertension, Patent ductus arteriosus, A... |
OMIM:613355 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Hypertension, Coarctation of the descending aortic arch, Persistent left s... |
ORPHA:1457 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal hypoplasia, Renal tubular acidosis, Renal dysplasia, Renal cyst, Cardiomyopathy, Renal insu... |
OMIM:614922 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Hypertrophic cardiomyopathy, Renal hypoplasia, Microphthalmia, Ketonuria |
OMIM:619053 |
| Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:3270 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Right ventricular dilatation, Mitral valve prolapse, Dysplastic tricuspid valve, Intrauterine gro... |
OMIM:612863 |
| Cranioectodermal Dysplasia 3 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Peripheral pulmonary artery stenosis |
OMIM:614099 |
| Faciocardiorenal Syndrome |
|
Horseshoe kidney, Endocardial fibroelastosis, Tricuspid valve prolapse |
ORPHA:1973 |
| Even-Plus Syndrome |
|
Renal hypoplasia, Recurrent urinary tract infections, Atrial septal defect, Vesicoureteral reflux... |
OMIM:616854 |
| Polycystic Liver Disease 4 With Or Without Kidney Cysts |
|
Hepatic cysts, Renal cyst |
OMIM:617875 |
| Polycystic Liver Disease 3 With Or Without Kidney Cysts |
|
Hepatic cysts, Renal cyst |
OMIM:617874 |
| Fryns Syndrome |
|
Hypospadias, Abnormal aortic arch morphology, Abnormal aortic morphology, Microphthalmia, Hydrone... |
ORPHA:2059 |
| Microphthalmia, Isolated, With Coloboma 6 |
|
Optic disc hypoplasia, Bilateral microphthalmos, Hypoplasia of the fovea |
OMIM:613703 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Ventricular septal defect |
OMIM:616277 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Renal hypoplasia, Mitral stenosis, Hypoplastic left heart, Atrial septal defect, Vesicoureteral r... |
OMIM:617660 |
| Floating-Harbor Syndrome |
|
Hypospadias, Hydronephrosis, Renal agenesis, Nephrocalcinosis, Persistent left superior vena cava... |
ORPHA:2044 |
| Pseudotrisomy 13 Syndrome |
|
Dextrocardia, Complete atrioventricular canal defect, Ventricular septal defect, Renal agenesis, ... |
OMIM:264480 |
| Trisomy X |
|
Renal hypoplasia/aplasia, Multicystic kidney dysplasia |
ORPHA:3375 |
| Vacterl/Vater Association |
|
Hypospadias, Hydronephrosis, Aplasia/Hypoplasia of the lungs, Renal agenesis, Intrauterine growth... |
ORPHA:887 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Horseshoe kidney, Ventricular septal defect, Intrauterine growth retardation, Renal cyst, Abnorma... |
ORPHA:166035 |
| Familial Aortic Dissection |
|
Aortic dissection, Mucoid extracellular matrix accumulation, Descending thoracic aorta aneurysm, ... |
ORPHA:229 |
| Fetal Minoxidil Syndrome |
|
Ventricular septal defect |
ORPHA:1918 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Atrial septal defect, Aminoaci... |
OMIM:249270 |
| Tuberous Sclerosis Complex |
|
Cardiac rhabdomyoma, Hypertension, Renal cell carcinoma, Hepatic cysts, Renal cyst, Stage 5 chron... |
ORPHA:805 |
| Isolated Right Ventricular Hypoplasia |
|
Right ventricular failure, Systolic heart murmur, Right bundle branch block, Cardiomegaly, Tricus... |
ORPHA:439 |
| Seckel Syndrome 2 |
|
Hypospadias, Ectopic kidney, Microphthalmia, Heart murmur |
OMIM:606744 |
| Duane-Radial Ray Syndrome |
|
Horseshoe kidney, Ventricular septal defect, Renal agenesis, Microphthalmia, Renal malrotation, R... |
OMIM:607323 |
| Seckel Syndrome 9 |
|
Ventricular septal defect, Intrauterine growth retardation, Pulmonary artery hypoplasia, Recurren... |
OMIM:616777 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Uraciluria, Microphthalmia |
OMIM:274270 |
| Mental Retardation, Autosomal Recessive 65 |
|
Hypospadias, Atrial septal defect |
OMIM:618109 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hypospadias, Ventricular septal defect, Microphthalmia, Anophthalmia, Patent ductus arteriosus, H... |
ORPHA:77298 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Ventricular septal defect, Hypoplastic left heart, Intrauterine growth retardation, Hypoplasia of... |
ORPHA:2772 |
| Congenital Gerbode Defect |
|
Right ventricular failure, Constrictive pericarditis, Ventricular septal defect, Bacterial endoca... |
ORPHA:99095 |
| Pericardial And Diaphragmatic Defect |
|
Bicuspid aortic valve, Palpitations, Abnormal heart morphology, Pulmonary sequestration, Mitral s... |
ORPHA:2847 |
| Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Hydronephrosis, Mitral valve prolapse, Ureteral triplication, Patent ductus arteriosus |
OMIM:104350 |
| Medullary cystic kidney disease 2 |
|
Renal tubular atrophy, Tubulointerstitial nephritis, Multiple small medullary renal cysts, Renal ... |
OMIM:603860 |
| Matthew-Wood Syndrome |
|
Horseshoe kidney, Renal hypoplasia, Microphthalmia, Intrauterine growth retardation, Anophthalmia... |
ORPHA:2470 |
| Atrial Septal Defect, Ostium Primum Type |
|
Left atrial enlargement, Syncope, Third heart sound, Abnormally loud pulmonic component of the se... |
ORPHA:99106 |
| Joubert Syndrome 22 |
|
Renal hypoplasia, Intrauterine growth retardation, Microphthalmia |
OMIM:615665 |
| Feingold Syndrome Type 2 |
|
Ventricular septal defect |
ORPHA:391646 |
| Atrial Septal Defect 6 |
|
Atrial fibrillation, Atrial septal defect, Bradycardia |
OMIM:613087 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Microphthalmia, Intrauterine growth retardation, Atrial septal defect, Multiple bladder diverticu... |
ORPHA:2728 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Renal hypoplasia, Hydronephrosis, Coarctation of aorta, Renal cyst, Patent ductus arteriosus, Abn... |
OMIM:618454 |
| Primary Non-Essential Cutis Verticis Gyrata |
|
Ventricular septal defect, Atrial septal defect |
ORPHA:357225 |
| Ureterocele |
|
Ureterocele, Duplicated collecting system |
OMIM:191650 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Ventricular septal defect |
OMIM:614876 |
| Burn-Mckeown Syndrome |
|
Renal hypoplasia, Ventricular septal defect, Atrial septal defect |
OMIM:608572 |
| Caudal Regression Sequence |
|
Hypertension, Ureteral duplication, Renal agenesis, Abnormality of the ureter, Vesicoureteral ref... |
ORPHA:3027 |
| Craniofacial Dyssynostosis With Short Stature |
|
Hypospadias, Horseshoe kidney, Ventricular septal defect, Patent ductus arteriosus |
OMIM:218350 |
| Distal Monosomy 12Q |
|
Hydronephrosis, Patent ductus arteriosus, Congenital hypertrophy of left ventricle, Micropenis, P... |
ORPHA:96149 |
| Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Hydronephrosis, Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus |
ORPHA:457193 |
| Myopathy, Congenital, Progressive, With Scoliosis |
|
Hydronephrosis, Renal atrophy |
OMIM:618578 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Ventricular septal defect, Nephrocalcinosis, Right ventricular hypertrophy, Renal tubular acidosi... |
OMIM:613404 |
| Caudal Duplication |
|
Renal hypoplasia/aplasia, Ureteral duplication, Abnormal penis morphology, Myelomeningocele |
ORPHA:1756 |
| Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Hypospadias, Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, Micropeni... |
OMIM:600460 |
| Bardet-Biedl Syndrome 17 |
|
Dextrocardia, Situs inversus totalis, Renal cyst, Stage 5 chronic kidney disease, Micropenis, Pol... |
OMIM:615994 |
| Phaver Syndrome |
|
Ventricular septal defect, Intrauterine growth retardation, Myelomeningocele, Coarctation of aort... |
ORPHA:2876 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bicuspid aortic valve, Aplasia/Hypoplasia of the lungs, Abnormal lung lobation, Abnormal aortic v... |
ORPHA:1120 |
| Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Vascular ring, Ventricular septal defect, Mitral regurgitation, Abnormally large globe, Atrial se... |
OMIM:603387 |
| Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
| Developmental And Epileptic Encephalopathy 90 |
|
Fetal pyelectasis, Atrial septal defect |
OMIM:301058 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Hypertension, Ventricular septal defect, Biventricular hypertrophy, Pulmonary arterial hypertensi... |
OMIM:615474 |
| Sifrim-Hitz-Weiss Syndrome |
|
Ventricular septal defect, Coarctation of aorta, Micropenis, Atrial septal defect, Tetralogy of F... |
OMIM:617159 |
| Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Renal dysplasia, Coarctation of aorta, Mitral stenosis, Renal cyst, Patent ductus arteriosus, Hyp... |
OMIM:617260 |
| Mowat-Wilson Syndrome |
|
Hypospadias, Ventricular septal defect, Microphthalmia, Abnormal heart morphology, Patent ductus ... |
OMIM:235730 |
| Dextrocardia |
|
Dextrocardia, Abnormal pulmonary situs morphology, Abnormality of the ureter, Abnormal lung lobat... |
ORPHA:1666 |
| Joubert Syndrome 20 |
|
Renal cyst |
OMIM:614970 |
| 15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Total anomalous pulmonary venous return, Co... |
ORPHA:261183 |
| Seizures-Scoliosis-Macrocephaly Syndrome |
|
Atrial septal defect, Abnormality of the kidney |
ORPHA:466926 |
| Feingold Syndrome 2 |
|
Ventricular septal defect |
OMIM:614326 |
| Aortic Aneurysm, Familial Thoracic 4 |
|
Bicuspid aortic valve, Ascending tubular aorta aneurysm, Aortic dissection, Cystic medial necrosi... |
OMIM:132900 |
| Craniofacial Microsomia |
|
Ventricular septal defect, Renal agenesis, Microphthalmia, Anophthalmia, Coarctation of aorta, Pa... |
OMIM:164210 |
| Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Ureteral duplication, Hydronephrosis, Renal dysplasia, Patent ductus arteriosus, Bladder trabecul... |
OMIM:614080 |
| Familial Visceral Myopathy |
|
Megacystis, Hydroureter, Vesicoureteral reflux |
ORPHA:2604 |
| Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Horseshoe kidney, Renal hypoplasia, Renal agenesis, Abnormal heart morphology, Renal dysplasia, B... |
OMIM:617641 |
| Kapur-Toriello Syndrome |
|
Ventricular septal defect, Microphthalmia, Intrauterine growth retardation, Abnormality of the ur... |
OMIM:244300 |
| Mosaic Trisomy 1 |
|
Renal cortical cysts, Ventricular septal defect, Microphthalmia, Coarctation of aorta, Renal cyst... |
ORPHA:1692 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Ventricular septal defect, Atrial septal defect |
OMIM:613458 |
| Diamond-Blackfan Anemia 7 |
|
Horseshoe kidney, Ventricular septal defect, Intrauterine growth retardation, Patent ductus arter... |
OMIM:612562 |
| Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, And Psychomotor Delay |
|
Ureteral duplication, Bronchiectasis, Aortic regurgitation, Tricuspid regurgitation, Bifid ureter... |
OMIM:601347 |
| Fanconi Anemia, Complementation Group F |
|
Renal hypoplasia, Microphthalmia, Intrauterine growth retardation, Pneumonia, Pelvic kidney, Pate... |
OMIM:603467 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Renal hypoplasia, Lens coloboma, Microphthalmia, Pulmonic stenosis, Patent foramen ovale |
OMIM:618914 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Hypospadias, Hydronephrosis, Micropenis, Atrial septal defect, Ureteral stenosis, Hydroureter |
OMIM:269150 |
| Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
| Autosomal Dominant Coarctation Of Aorta |
|
Abnormal aortic arch morphology, Ventricular septal defect, Patent ductus arteriosus, Aortic arch... |
ORPHA:1455 |
| Cat Eye Syndrome |
|
Abnormal heart morphology, Total anomalous pulmonary venous return, Renal agenesis, Microphthalmia |
OMIM:115470 |
| Ebstein Anomaly |
|
Atrial standstill, Atrial fibrillation, Ventricular preexcitation, Ebstein anomaly of the tricusp... |
OMIM:224700 |
| Wolcott-Rallison Syndrome |
|
Chronic kidney disease, Double outlet right ventricle, Atrial septal defect, Renal insufficiency |
ORPHA:1667 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Nephrocalcinosis, Restrictive cardiomyopathy, Renal cyst, Patent ductus arteriosus, Ureteral sten... |
OMIM:615398 |
| Meckel Syndrome, Type 10 |
|
Hypospadias, Micropenis, Renal cyst |
OMIM:614175 |
| Vici Syndrome |
|
Renal tubular acidosis, Recurrent respiratory infections, Cardiomyopathy, Ureteral atresia |
ORPHA:1493 |
| Chromosome 15Q14 Deletion Syndrome |
|
Ventricular septal defect, Atrial septal defect |
OMIM:616898 |
| Igg4-Related Kidney Disease |
|
Tubulointerstitial nephritis, Pleuritis, Abnormal lung morphology, Chronic kidney disease, Abnorm... |
ORPHA:449395 |
| Stevenson-Carey Syndrome |
|
Recurrent urinary tract infections, Atrial septal defect, Microphthalmia, Left superior vena cava... |
OMIM:611961 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Coarctation of aorta, Atrial septal defect, Pulmonic stenosis |
OMIM:614300 |
| Biemond Syndrome Type 2 |
|
Hypospadias, Microphthalmia |
ORPHA:141333 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Renal dysplasia, Micropenis, Renal cyst, Hydronephrosis |
OMIM:615287 |
| Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus |
OMIM:618974 |
| Arima Syndrome |
|
Renal tubular atrophy, Occipital meningocele, Nephronophthisis, Tubulointerstitial fibrosis, Rena... |
OMIM:243910 |
| Giant Cell Arteritis |
|
Aortic dissection, Abdominal aortic aneurysm, Pericarditis, Double outlet right ventricle with su... |
ORPHA:397 |
| Distal Monosomy 15Q |
|
Hypospadias, Bicuspid aortic valve, Abnormal aortic arch morphology, Intrauterine growth retardat... |
ORPHA:1596 |
| Bresek Syndrome |
|
Renal hypoplasia, Microphthalmia, Intrauterine growth retardation, Renal dysplasia, Optic nerve h... |
ORPHA:85284 |
| 10Q22.3Q23.3 Microduplication Syndrome |
|
Hypospadias, Tetralogy of Fallot |
ORPHA:276422 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
