| Genitopalatocardiac Syndrome |
|
Ventricular septal defect, Double outlet right ventricle, Renal cyst, Hypospadias, Right aortic a... |
OMIM:231060 |
| Polycystic Kidney Disease 5 |
|
Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Hyperechogenic kidneys |
OMIM:617610 |
| Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Atrioventricular canal defect, Dextrocardia, Right aortic arch with mirror image branching, Pulmo... |
OMIM:606217 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Atrioventricular canal defect, Dextrocardia, Right aortic arch, Ventricular septal defect |
OMIM:613751 |
| Noduli Cutanei, Multiple, With Urinary Tract Abnormalities |
|
Duplicated collecting system, Hydronephrosis |
OMIM:163850 |
| Nephronophthisis 16 |
|
Nephronophthisis, Situs inversus totalis, Enlarged kidney, Patent ductus arteriosus, Pulmonic ste... |
OMIM:615382 |
| Congenital Heart Defects, Multiple Types, 7 |
|
Aortopulmonary collateral arteries, Double aortic arch, Pulmonic stenosis, Absence of the pulmona... |
OMIM:618780 |
| Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
| Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Polycystic kidney dysplasia, Vascular dilatation, Wide nasal bridge |
OMIM:614859 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Multiple renal cysts, Ventricular septal defect, Abnormal aortic morphology, Vesicoureteral reflu... |
ORPHA:1166 |
| Autosomal Dominant Coarctation Of Aorta |
|
Ventricular septal defect, Abnormal aortic arch morphology, Patent ductus arteriosus, Hypoplastic... |
ORPHA:1455 |
| Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
| Nephronophthisis 14 |
|
Nephronophthisis, Situs inversus totalis, Polycystic kidney dysplasia |
OMIM:614844 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Hypoplastic pulmonary veins, Single ventricle, Ventricular septal defect, Complete atrioventricul... |
OMIM:613854 |
| Distal Trisomy 14Q |
|
Abnormal lung lobation, Abnormal aortic morphology, Patent ductus arteriosus, Abnormality of the ... |
ORPHA:1705 |
| Pulmonary Atresia With Intact Ventricular Septum |
|
Pulmonary artery atresia, Hypoplastic right heart |
OMIM:265150 |
| Tricuspid Atresia |
|
Tricuspid atresia, Atrial septal defect, Ventricular septal defect, Pulmonary artery atresia, Per... |
ORPHA:1209 |
| Aortic Arch Anomaly With Peculiar Facies And Mental Retardation |
|
Right aortic arch with mirror image branching |
OMIM:107500 |
| Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology, Vent... |
ORPHA:1354 |
| Renal Hypodysplasia/Aplasia 3 |
|
Horseshoe kidney, Multicystic kidney dysplasia, Renal dysplasia, Vesicoureteral reflux, Hydroneph... |
OMIM:617805 |
| RCAD (renal cysts and diabetes) |
|
Multiple renal cysts |
DECIPHER:47 |
| Renal Dysplasia, Cystic, Susceptibility To |
|
Cystic renal dysplasia, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal ins... |
OMIM:601331 |
| Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Cerebral berry aneurysm, Polycystic kidney dysplasia, Mitral valve prolapse |
OMIM:173900 |
| Renal Tubular Dysgenesis |
|
Multiple renal cysts, Proximal tubulopathy, Renotubular dysgenesis, Nephropathy, Pulmonary hypopl... |
ORPHA:3033 |
| Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Dilatation of the cerebral artery, Polycystic kidney dysplasia |
OMIM:600666 |
| 8P23.1 Duplication Syndrome |
|
Ventricular septal defect, Pulmonic stenosis, Hydronephrosis, Tetralogy of Fallot, Wide nose |
ORPHA:251076 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta, A... |
OMIM:615779 |
| Aorta Coarctation |
|
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Patent ductus arteriosu... |
ORPHA:1457 |
| Nephronophthisis 20 |
|
Nephronophthisis, Renal insufficiency, Renal cyst, Stage 5 chronic kidney disease |
OMIM:617271 |
| Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Vesicoureteral reflux, Ectopic kidney, Renal cyst, Hydronephrosis |
OMIM:618270 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Atrial septal defect, Broad nasal tip, Ventricular septal defect, Patent ductus arteriosus, Overr... |
OMIM:601927 |
| Coarctation Of Aorta |
|
Hypoplastic left heart, Coarctation of aorta |
OMIM:120000 |
| Bardet-Biedl Syndrome 16 |
|
Renal insufficiency, Bronchiolitis, Recurrent respiratory infections, Renal dysplasia, Renal cyst... |
OMIM:615993 |
| Megabladder, Congenital |
|
Atrial septal defect, Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, P... |
OMIM:618719 |
| Pulmonary Atresia-Intact Ventricular Septum Syndrome |
|
Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology |
ORPHA:1208 |
| Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
| Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Renal cyst, Abnormality of the kidney |
OMIM:615987 |
| Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Pseudocoarctation of the aorta, Patent ductus arteriosus, Bicuspid aortic valve |
ORPHA:228190 |
| Renal Caliceal Diverticuli-Deafness Syndrome |
|
Hydroureter, Abnormality of the urinary system, Hydronephrosis, Abnormality of the upper urinary ... |
ORPHA:2838 |
| Infundibulopelvic Dysgenesis |
|
Microscopic hematuria, Multicystic kidney dysplasia |
OMIM:600989 |
| Indomethacin Embryofetopathy |
|
Abnormal renal tubule morphology, Atrial septal defect, Ventricular septal defect, Nephropathy, M... |
ORPHA:1909 |
| Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Cystic renal dysplasia, Renal hypoplasia, Congenital megaureter, Renal sarcoma, Hydroureter, Mult... |
OMIM:143400 |
| Left Ventricular Noncompaction 1 |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Left ventricular hyp... |
OMIM:604169 |
| Diabetic Embryopathy |
|
Ventricular septal defect, Abnormal aortic morphology, Tetralogy of Fallot, Hydronephrosis, Abnor... |
ORPHA:1926 |
| Cayler Cardiofacial Syndrome |
|
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect |
OMIM:125520 |
| Meckel Syndrome, Type 11 |
|
Polycystic kidney dysplasia |
OMIM:615397 |
| Congenital Primary Megaureter |
|
Abnormal penis morphology, Congenital megaureter, Recurrent urinary tract infections, Microscopic... |
ORPHA:617 |
| Urofacial Syndrome 2 |
|
Recurrent urinary tract infections, Enuresis, Urinary urgency, Vesicoureteral reflux, Hydronephro... |
OMIM:615112 |
| Congenital unilateral pulmonary hypoplasia |
|
Abnormality of the pulmonary artery, Anomalous pulmonary venous return, Aplasia/Hypoplasia of the... |
ORPHA:2258 |
| Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Renal hypoplasia, Renal cyst, Truncus arteriosus, Ventricular septal defect |
OMIM:228940 |
| Alagille Syndrome 2 |
|
Atrial septal defect, Hematuria, Renal hypoplasia, Peripheral pulmonary artery stenosis, Renal tu... |
OMIM:610205 |
| Long Qt Syndrome 16 |
|
Perimembranous ventricular septal defect, Patent ductus arteriosus after birth at term |
OMIM:618782 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Abnormal renal morphology, Atrial septal defect, Overriding aorta, Abnormal heart morphology, Ven... |
ORPHA:477817 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Atrial septal defect, Situs inversus totalis, Interrupted aortic arch, Abnormal tricuspid valve m... |
OMIM:616749 |
| Igg4-Related Aortitis |
|
Abnormal aortic arch morphology, Thoracic aortic aneurysm, Hydronephrosis, Abnormal common caroti... |
ORPHA:449400 |
| Microphthalmia, Syndromic 9 |
|
Right aortic arch with mirror image branching, Atrial septal defect, Horseshoe kidney, Renal malr... |
OMIM:601186 |
| Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Pseudocoarctation of the aorta, Patent ductus arteriosus, Bicuspid aortic valve |
OMIM:604381 |
| Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Pulmonic stenosis, Hydronephrosis, Hydroureter |
OMIM:264140 |
| Congenital Megacalycosis |
|
Abnormal renal physiology, Hematuria, Enlarged kidney, Dilatation of renal calices, Recurrent uri... |
ORPHA:93109 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Endocardial fibrosis, Left ventricular hypertrophy, Left ventricular nonc... |
OMIM:601493 |
| Ring Chromosome 8 Syndrome |
|
Hydronephrosis, Short nose, Anteverted nares, Abnormality of the ureter |
ORPHA:1450 |
| Left Ventricular Noncompaction 10 |
|
Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:615396 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Anomalous origin of right pulmonary artery from ascending aorta, Atrial septal defect, Ventricula... |
ORPHA:99050 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Situs inversus totalis, Recurrent urinary tract infections, Dextrocardia, Polycystic kidney dyspl... |
OMIM:613095 |
| Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta |
OMIM:241550 |
| Bardet-Biedl Syndrome 6 |
|
Hypospadias, Renal cyst |
OMIM:605231 |
| Waardenburg Syndrome Type 2 |
|
Abnormality of the pulmonary artery, Abnormality of the kidney |
ORPHA:895 |
| Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
| Hanac Syndrome |
|
Renal insufficiency, Multiple renal cysts, Hematuria |
ORPHA:73229 |
| 2p15-16.1 microdeletion syndrome |
|
Hydronephrosis |
DECIPHER:70 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Tricuspid atresia, Atrial septal defect, Truncus arteriosus, Interrupted aortic arch, Ventricular... |
OMIM:617478 |
| Cardiomyopathy, Dilated, 1R |
|
Dilated cardiomyopathy, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricula... |
OMIM:613424 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Atrial septal defect, Horseshoe kidney, Abnormal heart morphology, Recurrent urinary tract infect... |
ORPHA:363444 |
| Mungan Syndrome |
|
Renal hypoplasia, Pulmonic stenosis, Vesicoureteral reflux, Perimembranous ventricular septal defect |
OMIM:611376 |
| Fibromuscular Dysplasia, Arterial |
|
Renovascular hypertension, Arterial fibromuscular dysplasia, Aortic dissection |
OMIM:135580 |
| Aorto-Ventricular Tunnel |
|
Abnormal coronary artery morphology, Ventricular hypertrophy, Abnormal heart valve morphology, Ab... |
ORPHA:3400 |
| Aortic Aneurysm, Familial Thoracic 7 |
|
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture |
OMIM:613780 |
| Distal Tetrasomy 15Q |
|
Atrial septal defect, Horseshoe kidney, Abnormal heart morphology, Patent ductus arteriosus, Hypo... |
ORPHA:314588 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Atrial septal defect, Vascular ring, Ventricular septal defect |
OMIM:603387 |
| Ventricular Septal Defect 3 |
|
Atrial septal defect, Patent ductus arteriosus, Pulmonary artery stenosis, Ventricular septal defect |
OMIM:614432 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Wide nasal bridge, Pulmonic stenosis, Double outl... |
ORPHA:3304 |
| Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Hematuria, Vascular dilatation, Nephropathy, Dilatation of the cerebral artery, Renal cyst, Renal... |
OMIM:611773 |
| Cystic Hamartoma Of Lung And Kidney |
|
Recurrent respiratory infections, Pulmonary fibrosis, Multicystic kidney dysplasia |
ORPHA:2111 |
| Truncus Arteriosus |
|
Abnormal coronary artery morphology, Patent ductus arteriosus, Cardiomegaly, Pulmonary artery ste... |
ORPHA:3384 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Unbalanced atrioventricular canal defect, Ventricular septal defect, Atrial situs ambiguous, Doub... |
OMIM:617205 |
| Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Abnormal aortic arch morphology, Prominent nasal bridge, Arteriovenous malformation, Overriding a... |
ORPHA:1110 |
| Catel-Manzke Syndrome |
|
Overriding aorta, Dextrocardia, Coarctation of aorta, Ventricular septal defect |
OMIM:616145 |
| Hypoplastic Left Heart Syndrome |
|
Atrial septal defect, Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplas... |
ORPHA:2248 |
| Meckel Syndrome 13 |
|
Polycystic kidney dysplasia |
OMIM:617562 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Pulmonic stenosis, Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect |
OMIM:601127 |
| Atrial Septal Defect 4 |
|
Patent foramen ovale, Atrial septal defect, Coarctation of aorta |
OMIM:611363 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Cardiomyocyte hypertrophy, Endocardial fibroelastosis, Endocardial fibrosis, Left ventricular hyp... |
OMIM:612158 |
| Hyperparathyroidism 2 With Jaw Tumors |
|
Papillary renal cell carcinoma, Renal cortical adenoma, Nephroblastoma, Polycystic kidney dysplas... |
OMIM:145001 |
| Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Abnormality of the urinary system, Hydronephrosis |
ORPHA:2669 |
| Thomas Syndrome |
|
Renal hypoplasia/aplasia, Hypoplastic left heart, Multicystic kidney dysplasia |
ORPHA:3316 |
| Ciliary Dyskinesia, Primary, 37 |
|
Dextrocardia, Right aortic arch, Situs inversus totalis, Bronchiectasis |
OMIM:617577 |
| Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Renal angiomyolipoma, Polycystic kidney dysplasia |
OMIM:600273 |
| Infections, Recurrent, With Encephalopathy, Hepatic Dysfunction, And Cardiovascular Malformations |
|
Pulmonary artery atresia, Left superior vena cava draining directly to the left atrium, Ventricul... |
OMIM:613759 |
| 22Q11.2 Duplication Syndrome |
|
Interrupted aortic arch, Ventricular septal defect, Abnormality of the pharynx, Urethral stenosis... |
ORPHA:1727 |
| Fanconi Anemia, Complementation Group O |
|
Stage 5 chronic kidney disease, Hydronephrosis, Renal cyst, Abnormal heart morphology |
OMIM:613390 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Short nose, Pericardial effusion, Polycystic kidney dysplasia, Abnormal cardiac septum morphology... |
OMIM:608776 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Focal segmental glomerulosclerosis, Vascular dilatation, Nephropathy, Renal cyst, Chronic kidney ... |
OMIM:617056 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Atrial septal defect, Truncus arteriosus, Short nose, Ventricular septal defect, Abnormal heart m... |
ORPHA:401935 |
| Immunodeficiency, Common Variable, 6 |
|
Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune complex deposition, Glomerulonephr... |
OMIM:613496 |
| Left Ventricular Noncompaction 8 |
|
Dilated cardiomyopathy, Abnormal left ventricle morphology, Left ventricular noncompaction |
OMIM:615373 |
| Aortic Aneurysm, Familial Thoracic 8 |
|
Coronary artery aneurysm, Coronary artery dissection, Descending aortic dissection, Ascending aor... |
OMIM:615436 |
| Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies |
|
Renal cyst |
OMIM:138790 |
| Atrial Septal Defect 2 |
|
Atrioventricular canal defect, Atrial septal defect, Ventricular septal defect |
OMIM:607941 |
| Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect |
OMIM:617992 |
| Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Ventricular septal defect |
ORPHA:306550 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Enlarged kidney, Hydronephrosis, Atrioventricular canal defect, Tracheoesophage... |
OMIM:314390 |
| Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Tracheal atresia, Patent ductus arteriosus, Bilateral lung agenesis, Coarctation of aorta, Abnorm... |
OMIM:601612 |
| Vesicoureteral Reflux 3 |
|
Vesicoureteral reflux, Hydronephrosis, Hydroureter |
OMIM:613674 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Hypoplastic tricuspid valve, Truncus arteriosus, Atrial septal defect, Interrupted aortic arch, V... |
OMIM:600001 |
| Hadziselimovic Syndrome |
|
Prominent nasal bridge, Ventricular hypertrophy, Atrial septal defect, Ventricular septal defect,... |
OMIM:612946 |
| Ritscher-Schinzel Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis, Aortic valve stenosis, Double... |
OMIM:220210 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Tubulointerstitial fibrosis, Enlarged kidney, Absence of renal corticomedullary differentiation, ... |
OMIM:263200 |
| Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Interrupted aortic arch, Coarctation of aorta |
OMIM:107550 |
| Aortic Aneurysm, Familial Thoracic 6 |
|
Moyamoya phenomenon, Aortic aneurysm, Premature coronary artery atherosclerosis, Thoracic aortic ... |
OMIM:611788 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Recurrent lower respiratory tract infections, Cardiomegaly |
OMIM:619170 |
| Klippel-Trénaunay Syndrome |
|
Atrial septal defect, Hematuria, Abnormal tricuspid valve morphology, Patent ductus arteriosus, P... |
ORPHA:90308 |
| Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Right aortic arch, Coarctation of aorta |
OMIM:140850 |
| Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Anomalous origin of right pulmonary artery from ascending aorta, Ventricular septal defect, Paten... |
OMIM:610338 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, Mitral valve prolapse, Recurrent urinary... |
ORPHA:730 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Renal cyst, Wide nasal bridge |
OMIM:614870 |
| Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Pulmonary hypoplasia, Cardiomegaly, Ventricular septal defect |
OMIM:617022 |
| Renal Hypoplasia |
|
Abnormal renal tubule morphology, Abnormal renal morphology, Decreased numbers of nephrons, Ureth... |
ORPHA:93101 |
| Aortic Aneurysm, Familial Thoracic 4 |
|
Ascending aortic dissection, Patent ductus arteriosus, Posterior cerebral artery stenosis, Corona... |
OMIM:132900 |
| Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia |
|
Tetralogy of Fallot, Hypoplastic right heart, Ventricular septal defect |
OMIM:601348 |
| Combined Oxidative Phosphorylation Deficiency 31 |
|
Left ventricular noncompaction, Hypertrophic cardiomyopathy |
OMIM:617228 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Atrial septal defect, Enlarged kidney, Patent ductus arteriosus, Renal dysplasia, Ureteral atresi... |
OMIM:208540 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Underdeveloped nasal alae, Unilateral renal agenesis, Truncus arteriosus, Ventricular septal defect |
OMIM:601355 |
| Cardiomyopathy, Dilated, 1D |
|
Dilated cardiomyopathy, Left ventricular hypertrophy, Left ventricular noncompaction |
OMIM:601494 |
| Cardiac Valvular Defect, Developmental |
|
Tricuspid atresia, Hydroureter, Arteria lusoria, Urethral diverticulum, Hydronephrosis, Mitral st... |
OMIM:212093 |
| Velocardiofacial Syndrome |
|
Right aortic arch with mirror image branching, Bulbous nose, Interrupted aortic arch, Ventricular... |
OMIM:192430 |
| Dextrocardia |
|
Abnormal renal morphology, Situs inversus totalis, Congenital malformation of the great arteries,... |
ORPHA:1666 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Short nose, Pulmonic stenosis, Perimembranous ventricular septal defect, Anteverted nares, Transp... |
OMIM:617877 |
| Trisomy 17P |
|
Urethral valve, Patent ductus arteriosus, Urethral stenosis, Aortic valve stenosis, Hydronephrosi... |
ORPHA:261290 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Underdeveloped nasal alae, Abnormal heart morphology, Pulmonary hypoplasia, Polycystic kidney dys... |
OMIM:263210 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Abnormal left ventricular outflow tract morphology, Subvalvular aortic stenosis, Ventricular sept... |
OMIM:614980 |
| Familial Aortic Dissection |
|
Descending thoracic aorta aneurysm, Carotid artery dilatation, Patent ductus arteriosus, Coronary... |
ORPHA:229 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Truncus arteriosus, Situs inversus totalis, Cystic renal dysplasia, Enlarged kidney, Pulmonic ste... |
OMIM:615415 |
| Prune Belly Syndrome |
|
Atrial septal defect, Urogenital sinus anomaly, Hydroureter, Ventricular septal defect, Recurrent... |
ORPHA:2970 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Renal agenesis, Truncus arteriosus, Underdeveloped nasal alae, Ventricular septal defect, Abnorma... |
ORPHA:2516 |
| Moyamoya Disease 5 |
|
Moyamoya phenomenon, Ascending tubular aorta aneurysm |
OMIM:614042 |
| Epidermal Nevus Syndrome |
|
Aortic aneurysm, Polycystic kidney dysplasia |
ORPHA:35125 |
| Hinman Syndrome |
|
Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydronephrosis, Renal insuff... |
ORPHA:84085 |
| Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome |
|
Abnormality of the pulmonary artery |
ORPHA:1065 |
| Image Syndrome |
|
Hypospadias, Hydronephrosis, Depressed nasal bridge |
ORPHA:85173 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Increased intramyocellular lipid droplets, Flexion contracture, Abnormal mitochondria in muscle t... |
OMIM:252011 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Patent ductus arteriosus, Left ventricular noncompaction, Hypertrophic cardiomyopathy |
OMIM:616501 |
| Recombinant Chromosome 8 Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Dou... |
OMIM:179613 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Secundum atrial septal defect, Left ventricular hypertrophy, Pulmonary... |
OMIM:108900 |
| Femoral-Facial Syndrome |
|
Long penis, Short nose, Abnormal localization of kidney, Polycystic kidney dysplasia, Renal hypop... |
ORPHA:1988 |
| Hardikar Syndrome |
|
Patent foramen ovale, Hydroureter, Ventricular septal defect, Recurrent urinary tract infections,... |
OMIM:612726 |
| Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:2091 |
| Dysmyelination With Jaundice |
|
Hydronephrosis, Hypoplasia of penis, Hydroureter |
OMIM:224250 |
| Johnson Neuroectodermal Syndrome |
|
Right aortic arch, Micropenis, Patent ductus arteriosus, Ventricular septal defect |
OMIM:147770 |
| Macdermot-Winter Syndrome |
|
Hydronephrosis |
OMIM:247990 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Truncus arteriosus, Bulbous nose, Patent ductus arteriosus, Bicuspid aortic valve, Coarctation of... |
OMIM:612474 |
| Congenital Rubella Syndrome |
|
Abnormality of the pulmonary artery, Atrial septal defect, Patent ductus arteriosus, Ventricular ... |
ORPHA:290 |
| Nphp3-Related Meckel-Like Syndrome |
|
Renal dysplasia, Pulmonary hypoplasia, Multicystic kidney dysplasia |
ORPHA:3032 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Polycystic kidney dysplasia |
OMIM:617866 |
| Verheij Syndrome |
|
Short nose, Renal hypoplasia, Wide nasal bridge, Renal cyst, Renal agenesis, Abnormal cardiac sep... |
OMIM:615583 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Anomalous origin of left coronary artery from the pulmonary artery, Pulmonary artery hypoplasia, ... |
ORPHA:2326 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Atrial septal defect, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventr... |
OMIM:617912 |
| Right Atrial Isomerism |
|
Right atrial isomerism, Situs inversus totalis, Single ventricle, Atrial septal defect, Ventricul... |
OMIM:208530 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Renal insufficiency, Abnormal aortic morphology, Cardiomyopathy |
ORPHA:3222 |
| Methimazole Embryofetopathy |
|
Ventricular septal defect, Abnormal aortic morphology, Choanal atresia, Coarctation of aorta, Hyp... |
ORPHA:1923 |
| Polysyndactyly With Cardiac Malformation |
|
Atrial septal defect, Renal cyst, Anteverted nares, Ventricular septal defect |
OMIM:263630 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Renal cortical cysts, Glutaric aciduria, Generalized aminoaciduria, Proximal tubulopathy, Glycosu... |
OMIM:231680 |
| Orofaciodigital Syndrome Xv |
|
Hydronephrosis, Anteverted nares, Wide nasal bridge |
OMIM:617127 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Atrial septal defect, Ventricular septal defect, Chordee, Overriding aorta, Hypospadias, Micropen... |
OMIM:309801 |
| Bardet-Biedl Syndrome 17 |
|
Dextrocardia, Situs inversus totalis, Renal cyst, Stage 5 chronic kidney disease |
OMIM:615994 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Duplicated collecting system, Hydronephrosis |
OMIM:617093 |
| 6P22 Microdeletion Syndrome |
|
Hydronephrosis, Patent ductus arteriosus |
ORPHA:251046 |
| Prune Belly Syndrome |
|
Abnormal heart morphology, Urethral valve, Hydroureter, Patent ductus arteriosus, Hydronephrosis,... |
OMIM:100100 |
| Supravalvular Aortic Stenosis |
|
Pulmonic stenosis, Peripheral arterial stenosis, Pulmonary artery stenosis |
OMIM:185500 |
| Urofacial Syndrome 1 |
|
Urethral obstruction, Hydroureter, Urethral valve, Recurrent urinary tract infections, Enuresis, ... |
OMIM:236730 |
| Aortic Valve Disease 3 |
|
Aortic root aneurysm, Aortic valve stenosis, Atrial septal defect, Bicuspid aortic valve |
OMIM:618496 |
| Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
|
Renal agenesis, Short nose, Anteverted nares, Ventricular septal defect, Perimembranous ventricul... |
OMIM:301040 |
| Transketolase Deficiency |
|
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Increased level of ri... |
ORPHA:488618 |
| Aortic Aneurysm, Familial Thoracic 11, Susceptibility To |
|
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection |
OMIM:617349 |
| Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Neurogenic bladder, Recurrent urinary tract infections, Vesicoureteral reflux, Hydronephrosis, Hy... |
OMIM:191800 |
| Apert Syndrome |
|
Anomalous tracheal cartilage, Ventricular septal defect, Choanal atresia, Hydronephrosis, Overrid... |
OMIM:101200 |
| Birt-Hogg-Dube Syndrome |
|
Spontaneous pneumothorax, Renal neoplasm, Multiple pulmonary cysts, Renal cell carcinoma, Renal cyst |
OMIM:135150 |
| Aortic Aneurysm, Familial Abdominal, 1 |
|
Abdominal aortic aneurysm |
OMIM:100070 |
| 16P13.11 Microduplication Syndrome |
|
Atrial septal defect, Ventricular septal defect, Coarctation of aorta, Tetralogy of Fallot, Trans... |
ORPHA:261243 |
| Isolated Polycystic Liver Disease |
|
Multiple renal cysts, Vascular dilatation |
ORPHA:2924 |
| Conotruncal Heart Malformations |
|
Truncus arteriosus, Complete atrioventricular canal defect, Double outlet right ventricle, Coarct... |
OMIM:217095 |
| Odontochondrodysplasia 1 |
|
Recurrent respiratory infections, Nephronophthisis, Pulmonary hypoplasia, Polycystic kidney dyspl... |
OMIM:184260 |
| Scimitar Syndrome |
|
Single ventricle, Patent ductus arteriosus, Bronchogenic cyst, Dextrocardia, Left superior vena c... |
ORPHA:185 |
| Campomelia, Cumming Type |
|
Polycystic kidney dysplasia |
OMIM:211890 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmonary artery atres... |
OMIM:618316 |
| Bardet-Biedl Syndrome 4 |
|
Renal cyst, Abnormality of the kidney |
OMIM:615982 |
| Isotretinoin-Like Syndrome |
|
Abnormality of the pulmonary veins, Thin anteverted nares, Abnormal aortic arch morphology, Paten... |
ORPHA:2306 |
| Meckel Syndrome, Type 9 |
|
Multicystic kidney dysplasia |
OMIM:614209 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Single ventricle, Patent ductus arteriosus, Atrial situs ambiguous, Dextrocardia, Gerbode ventric... |
ORPHA:216694 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Dilated cardiomyopathy, Bulbous nose, Enlarged kidney, Hydronephrosis, Polycystic kidney dysplasi... |
OMIM:608836 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Ventricular hypertrophy, Mitral valve calcification, Emphysema, Papillary renal cell carcinoma, A... |
ORPHA:363618 |
| Phaver Syndrome |
|
Ventricular septal defect, Hypoplastic aortic arch, Coarctation of aorta, Pulmonary artery atresi... |
ORPHA:2876 |
| Cardiomyopathy, Dilated, 1S |
|
Pulmonary artery hypoplasia, Bicuspid aortic valve, Coarctation of aorta, Dilated cardiomyopathy,... |
OMIM:613426 |
| Pagod Syndrome |
|
Situs inversus totalis, Abnormal aortic morphology, Pulmonary artery hypoplasia, Multicystic kidn... |
ORPHA:991 |
| Congenital Alveolar Capillary Dysplasia |
|
Pulmonary valve atresia, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosu... |
ORPHA:210122 |
| Pulmonary Hypertension, Primary, 1 |
|
Pulmonary aterial intimal fibrosis, Pulmonary arterial medial hypertrophy, Right ventricular hype... |
OMIM:178600 |
| Fryns Syndrome |
|
Abnormal aortic arch morphology, Abnormal aortic morphology, Multicystic kidney dysplasia, Abnorm... |
ORPHA:2059 |
| Medullary cystic kidney disease 2 |
|
Multiple renal cysts, Enuresis, Renal tubular atrophy, Renal corticomedullary cysts, Tubulointers... |
OMIM:603860 |
| Joubert Syndrome 35 |
|
Recurrent urinary tract infections, Multicystic kidney dysplasia, Renal fibrosis, Hydronephrosis,... |
OMIM:618161 |
| Cat-Eye Syndrome |
|
Renal hypoplasia/aplasia, Hydronephrosis, Abnormal localization of kidney |
ORPHA:195 |
| Feingold Syndrome Type 1 |
|
Nephritis, Tricuspid atresia, Horseshoe kidney, Interrupted aortic arch, Abnormal heart morpholog... |
ORPHA:391641 |
| Meacham Syndrome |
|
Pulmonary sequestration, Abnormal lung lobation, Anomalous pulmonary venous return, Crossed fused... |
ORPHA:3097 |
| Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Hydronephrosis |
OMIM:235760 |
| Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Prominent nose, Prominent nasal bridge, Multicystic kidney dysplasia |
ORPHA:3270 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Abnormal localization of kidney, Aplasia of the nose, Overriding aorta, Renal hypoplasia/aplasia,... |
ORPHA:3186 |
| Posterior Urethral Valve |
|
Dysuria, Pyelonephritis, Enuresis nocturna, Recurrent urinary tract infections, Unilateral renal ... |
ORPHA:93110 |
| Mckusick-Kaufman Syndrome |
|
Glandular hypospadias, Atrial septal defect, Urogenital sinus anomaly, Ventricular septal defect,... |
ORPHA:2473 |
| Aortic Valve Disease 2 |
|
Coarctation of aorta, Calcification of the aorta, Aortic aneurysm, Bicuspid aortic valve |
OMIM:614823 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Renal hypoplasia, Pulmonary hypoplasia, Renal cyst, Polycystic kidney dysplasia, Hypospadias |
OMIM:614091 |
| Lethal Congenital Contracture Syndrome 2 |
|
Dilated cardiomyopathy, Hydronephrosis, Ventricular septal defect |
OMIM:607598 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Ectopic kidney, Abnormality of the kidney, Cystic renal dysplasia |
OMIM:613730 |
| Syndromic Diarrhea |
|
Atrial septal defect, Abnormal heart morphology, Renal hypoplasia, Ventricular septal defect, Pat... |
ORPHA:84064 |
| Sandestig-Stefanova Syndrome |
|
Perimembranous ventricular septal defect, Muscular ventricular septal defect, Wide nasal bridge |
OMIM:618804 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Bulbous nose, Abnormal heart morphology, Renal hypoplasia, Hydronephrosis, Renal agenesis, Abnorm... |
OMIM:618494 |
| Nephronophthisis 9 |
|
Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease |
OMIM:613824 |
| Encephalocraniocutaneous Lipomatosis |
|
Atrial septal defect, Ventricular septal defect, Peripheral pulmonary artery stenosis, Hydronephr... |
OMIM:613001 |
| Phelan-Mcdermid Syndrome |
|
Bulbous nose, Ventricular septal defect, Patent ductus arteriosus, Wide nasal bridge, Vesicourete... |
OMIM:606232 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Red-brown urine, Cystic renal dysplasia, Renal tubular epithelial necrosis, Tubulointerstitial ne... |
ORPHA:157 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Microphallus, Bulbous nose, Laryngotracheomalacia, Anteverted nares, Renal hypoplasia, Short nose... |
OMIM:618454 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Horseshoe kidney, Renal agenesis, Truncus arteriosus, Ventricular septal defect, Renal hypoplasia... |
ORPHA:508498 |
| Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Hydronephrosis, Hydroureter |
OMIM:618240 |
| Von Willebrand Disease |
|
Venous insufficiency, Abnormal mitral valve morphology |
ORPHA:903 |
| Polycystic Liver Disease 4 With Or Without Kidney Cysts |
|
Renal cyst |
OMIM:617875 |
| Polycystic Liver Disease 3 With Or Without Kidney Cysts |
|
Renal cyst |
OMIM:617874 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Abnormal heart morphology, Unilateral renal agenesis, Renal dysplasia, Vesicoureteral reflux, Hyd... |
ORPHA:2237 |
| X-Linked Intellectual Disability, Schimke Type |
|
Vesicoureteral reflux, Hydronephrosis, Narrow nasal bridge |
ORPHA:85285 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Red-brown urine, Cystic renal dysplasia, Renal tubular epithelial necrosis, Tubulointerstitial ne... |
ORPHA:228308 |
| Joubert Syndrome 16 |
|
Nephronophthisis, Renal cyst |
OMIM:614465 |
| Transaldolase Deficiency |
|
Coarctation of aorta, Atrial septal defect, Abnormality of the kidney, Biventricular hypertrophy |
ORPHA:101028 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Lacticaciduria, Abnormal heart morphology, Glutaric aciduria, 3-Methylglutaric aciduria, Polycyst... |
ORPHA:26791 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Bulbous nose, Renal hypoplasia, Renal dysplasia, Pulmonary hypoplasia, Renal cyst, Anteverted nar... |
OMIM:236500 |
| Congenital Tracheal Stenosis |
|
Preductal coarctation of the aorta, Abnormal lung lobation, Abnormal lung morphology, Anomalous o... |
ORPHA:141127 |
| Duodenal Atresia |
|
Abnormality of the pulmonary artery |
ORPHA:1203 |
| Polycystic Kidney, Cataract, And Congenital Blindness |
|
Polycystic kidney dysplasia |
OMIM:263100 |
| Short Rib-Polydactyly Syndrome |
|
Nephronophthisis, Urogenital sinus anomaly, Situs inversus totalis, Abnormal heart morphology, Ab... |
ORPHA:1505 |
| Branchiootorenal Syndrome 1 |
|
Renal malrotation, Abnormal renal collecting system morphology, Renal steatosis, Renal dysplasia,... |
OMIM:113650 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Renal insufficiency, Renal corticomedullary cysts, Vascular dilatation, Ventricular septal defect |
OMIM:219730 |
| Trisomy 13 |
|
Multiple renal cysts, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, ... |
ORPHA:3378 |
| 3C Syndrome |
|
Atrial septal defect, Short nose, Abnormal tricuspid valve morphology, Ventricular septal defect,... |
ORPHA:7 |
| Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Renal cyst |
OMIM:174050 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Emphysema, Vascular dilatation, Bladder diverticulum, Tracheomalacia, Wide nasal bridge, Laryngom... |
OMIM:613177 |
| Mass Syndrome |
|
Mitral valve prolapse, Aortic aneurysm |
OMIM:604308 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Atrial septal defect, Abnormal heart morphology, Ventricular septal defect, Coarctation of aorta,... |
ORPHA:353281 |
| Noonan Syndrome With Multiple Lentigines |
|
Mitral valve prolapse, Abnormal mitral valve morphology, Abnormal endocardium morphology, Vascula... |
ORPHA:500 |
| Kleefstra Syndrome |
|
Short nose, Anteverted nares, Ventricular septal defect, Coarctation of aorta, Tracheomalacia, Bi... |
ORPHA:261494 |
| Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Multiple renal cysts, Renal cyst, Anteverted nares, Depressed nasal bridge |
OMIM:614883 |
| Grange Syndrome |
|
Patent ductus arteriosus, Arterial stenosis, Ventricular septal defect |
ORPHA:79094 |
| Ochoa Syndrome |
|
Urethral obstruction, Recurrent urinary tract infections, Urinary incontinence, Vesicoureteral re... |
ORPHA:2704 |
| Tuberous Sclerosis Complex |
|
Respiratory tract infection, Cardiac rhabdomyoma, Aortic aneurysm, Renal angiomyolipoma, Renal ce... |
ORPHA:805 |
| Rhyns Syndrome |
|
Nephronophthisis, Multicystic kidney dysplasia |
ORPHA:140976 |
| Penile Agenesis |
|
Unilateral renal hypoplasia, Atrial septal defect, Short nose, Hydroureter, Bilateral renal agene... |
ORPHA:49 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Polycystic kidney dysplasia, Aminoaciduria, Abnormal heart morphology |
OMIM:214110 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Misalignment of the pulmonary veins, Hydroureter, Patent ductus arteriosus, Alveolar capillary dy... |
OMIM:265380 |
| Floating-Harbor Syndrome |
|
Atrial septal defect, Renal agenesis, Broad nasal tip, Coarctation of aorta, Long nose, Hydroneph... |
ORPHA:2044 |
| Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Ventricular septal defect, Abnormal aortic morphology, Abnormal tricuspid valve morphology |
ORPHA:3405 |
| Xanthinuria, Type I |
|
Pyelonephritis, Xanthinuria, Hydronephrosis, Xanthine nephrolithiasis |
OMIM:278300 |
| Familial Bicuspid Aortic Valve |
|
Abnormal left ventricular outflow tract morphology, Thoracic aorta calcification, Coarctation of ... |
ORPHA:402075 |
| Thakker-Donnai Syndrome |
|
Bulbous nose, Ventricular septal defect, Hydronephrosis, Tetralogy of Fallot, Anteverted nares, T... |
ORPHA:1780 |
| Aortic Aneurysm, Familial Thoracic 9 |
|
Thoracic aortic aneurysm, Mitral valve prolapse, Aortic tortuosity, Ascending aortic dissection |
OMIM:616166 |
| Ventricular Septal Defect 1 |
|
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect |
OMIM:614429 |
| Trisomy X |
|
Renal hypoplasia/aplasia, Multicystic kidney dysplasia |
ORPHA:3375 |
| Tetraamelia Syndrome 2 |
|
Hypoplastic pulmonary veins, Micropenis, Ventricular septal defect |
OMIM:618021 |
| Papillorenal Syndrome |
|
Renal malrotation, Horseshoe kidney, Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureter... |
OMIM:120330 |
| Noonan Syndrome 9 |
|
Pulmonic stenosis, Ventricular septal defect, Coarctation of aorta, Hydroureter |
OMIM:616559 |
| Trisomy 1Q |
|
Ventricular septal defect, Congenital megaureter, Patent ductus arteriosus, Multicystic kidney dy... |
ORPHA:261344 |
| Alport Syndrome |
|
Hematuria, IgA deposition in the glomerulus, Renal insufficiency, Renal glomerular foam cells, Re... |
ORPHA:63 |
| 46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome |
|
Urogenital sinus anomaly, Hydroureter, Multicystic kidney dysplasia, Abnormality of the urethra, ... |
ORPHA:2973 |
| Pauci-Immune Glomerulonephritis |
|
Pulmonary hemorrhage, Small vessel vasculitis, Acute kidney injury, Arteritis, Abnormality of the... |
ORPHA:93126 |
| Tetraploidy |
|
Renal hypoplasia/aplasia, Aplasia/Hypoplasia of the lungs, Hydronephrosis |
ORPHA:3305 |
| Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Patent ductus arteriosus, Renal dysplasia, Renal cyst, Mitral stenosis, Hypoplastic left heart, C... |
OMIM:617260 |
| Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects |
|
Ureteral atresia, Hydronephrosis |
OMIM:183802 |
| Joubert Syndrome 20 |
|
Renal cyst |
OMIM:614970 |
| Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Ventricular septal defect, Absent pulmonary artery, Patent ductus arteriosus, Coarctation of aort... |
OMIM:600460 |
| Beaulieu-Boycott-Innes Syndrome |
|
Horseshoe kidney, Ventricular septal defect, Recurrent urinary tract infections, Patent ductus ar... |
OMIM:613680 |
| Pallister-Hall Syndrome |
|
Preductal coarctation of the aorta, Abnormal lung lobation, Bifid epiglottis, Short nose, Antever... |
OMIM:146510 |
| Diabetes Insipidus, Neurohypophyseal Type |
|
Polyuria, Hydronephrosis |
OMIM:304900 |
| Myopathy, Congenital, Progressive, With Scoliosis |
|
Hydronephrosis, Renal atrophy |
OMIM:618578 |
| Joubert Syndrome 18 |
|
Horseshoe kidney, Ventricular septal defect |
OMIM:614815 |
| Meckel Syndrome, Type 10 |
|
Hypospadias, Renal cyst, Micropenis |
OMIM:614175 |
| Williams Syndrome |
|
Abnormal carotid artery morphology, Abnormal endocardium morphology, Recurrent urinary tract infe... |
ORPHA:904 |
| Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Short nose, Anteverted nares, Recurrent upper respiratory tract infections, Pneumonia, Multicysti... |
OMIM:300209 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Renal dysplasia, Micropenis, Renal cyst, Hydronephrosis |
OMIM:615287 |
| Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Varicose veins, Peripheral arterial stenosis, Patent ductus arteriosus, Ventricular septal defect |
OMIM:126320 |
| Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Laryngomalacia, Hydron... |
ORPHA:457193 |
| Hereditary Xanthinuria |
|
Decreased urinary urate, Hematuria, Acute kidney injury, Xanthinuria, Xanthine nephrolithiasis, I... |
ORPHA:3467 |
| Distal Monosomy 12Q |
|
Bulbous nose, Anteverted nares, Patent ductus arteriosus, Congenital hypertrophy of left ventricl... |
ORPHA:96149 |
| Vacterl/Vater Association |
|
Renal agenesis, Multicystic kidney dysplasia, Laryngomalacia, Aplasia/Hypoplasia of the lungs, Ab... |
ORPHA:887 |
| 22Q11.2 Deletion Syndrome |
|
Bulbous nose, Patent ductus arteriosus, Choanal atresia, Vesicoureteral reflux, Multiple renal cy... |
ORPHA:567 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Short nose, Restrictive cardiomyopathy, Patent ductus arteriosus, Hypercalciuria, Renal cyst, Ure... |
OMIM:615398 |
| X-Linked Mandibulofacial Dysostosis |
|
Abnormality of the pulmonary artery, Pulmonic stenosis, Prominent nasal bridge, Abnormal mitral v... |
ORPHA:1131 |
| Craniofacioskeletal Syndrome |
|
Atrial septal defect, Interrupted aortic arch, Ventricular septal defect, Hypoplastic frontal sin... |
OMIM:300712 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Atrial septal defect, Ventricular septal defect, Abnormality of the larynx, Pulmonary hypoplasia,... |
OMIM:263520 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Wide nasal bridge, Hydronephrosis, Left ventricular hypertrophy, Hypospadias, Renal insufficiency... |
OMIM:611209 |
| Double Outlet Right Ventricle |
|
Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis, Double outlet right ventricle, ... |
ORPHA:3426 |
| 20Q13.33 Microdeletion Syndrome |
|
Atrial septal defect, Bulbous nose, Hypoplastic aortic arch, Abnormal cardiac ventricle morpholog... |
ORPHA:261311 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Recurrent urinary tract infections, Patent ductus arteriosus, Pneumonia, Vesicoureteral reflux, P... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Recurrent urinary tract infections, Patent ductus arteriosus, Pneumonia, Vesicoureteral reflux, P... |
ORPHA:353277 |
| Primary Pulmonary Hypoplasia |
|
Secundum atrial septal defect, Abnormal pulmonary artery morphology, Dextrocardia, Pneumothorax, ... |
ORPHA:2257 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Short nose, Anteverted nares, Ventricular septal defect, Pleural effusion, Wide nasal bridge, Pul... |
OMIM:616897 |
| Lymphedema-Distichiasis Syndrome |
|
Recurrent urinary tract infections, Patent ductus arteriosus, Glomerulopathy, Tubulointerstitial ... |
ORPHA:33001 |
| Meckel Syndrome, Type 1 |
|
Hypoplasia of the bladder, Abnormality of the larynx, Patent ductus arteriosus, Vascular dilatati... |
OMIM:249000 |
| Mckusick-Kaufman Syndrome |
|
Hydroureter, Pulmonary hypoplasia, Vesicovaginal fistula, Hydronephrosis, Polycystic kidney dyspl... |
OMIM:236700 |
| Distal Monosomy 15Q |
|
Broad nasal tip, Mitral atresia, Double outlet right ventricle with doubly committed ventricular ... |
ORPHA:1596 |
| 15q26 overgrowth syndrome |
|
Horseshoe kidney, Bulbous nose, Wide nasal bridge, Vesicoureteral reflux, Duplication of renal pe... |
DECIPHER:81 |
| Wolfram Syndrome, Mitochondrial Form |
|
Hydronephrosis, Hydroureter |
OMIM:598500 |
| Distal Trisomy 6P |
|
Renal hypoplasia, Abnormality of the urinary system, Hydronephrosis, Prominent nasal bridge, Abno... |
ORPHA:1745 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Hydronephrosis, Patent ductus arteriosus |
OMIM:300048 |
| Say Syndrome |
|
Proximal renal tubular acidosis, Cystic renal dysplasia |
OMIM:181180 |
| Orofaciodigital Syndrome I |
|
Underdeveloped nasal alae, Abnormal heart morphology, Vascular dilatation, Wide nasal bridge, Pol... |
OMIM:311200 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Hypospadias, Abnormal cardiac septum morphology, Hydronephrosis |
OMIM:616449 |
| Mosaic Trisomy 1 |
|
Penile hypospadias, Renal cortical cysts, Ventricular septal defect, Wide nasal bridge, Pulmonary... |
ORPHA:1692 |
| Nephronophthisis 2 |
|
Nephronophthisis, Situs inversus totalis, Enlarged kidney, Absence of renal corticomedullary diff... |
OMIM:602088 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal hypoplasia, Renal tubular acidosis, Renal dysplasia, Renal cyst, Renal insufficiency, Cardi... |
OMIM:614922 |
| Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency |
|
Atrial septal defect, Ventricular septal defect, Abnormality of the larynx, Unilateral renal agen... |
OMIM:608406 |
| Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified |
|
Mucoid extracellular matrix accumulation, Aortic dissection, Prominent nasal bridge, Aortic aneur... |
OMIM:130090 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Ventricular septal defect, Duplicated collecting system, Pulmonic stenosis, Vesicoureteral reflux... |
OMIM:301056 |
| Arima Syndrome |
|
Nephronophthisis, Tubulointerstitial fibrosis, Renal tubular atrophy, Renal corticomedullary cyst... |
OMIM:243910 |
| Mosaic Trisomy 9 |
|
Multiple renal cysts, Horseshoe kidney, Atrial septal defect, Bulbous nose, Ventricular septal de... |
ORPHA:99776 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Nephronophthisis, Nephropathy, Renal dysplasia, Renal cyst, Stage 5 chronic kidney disease |
OMIM:266920 |
| Bor Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Ureteropelvic junction obstruction, Vesicouret... |
ORPHA:107 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Atrial septal defect, Ventricular septal defect, Renal hypoplasia, Pulmonary artery stenosis, Ant... |
ORPHA:75389 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Atrial septal defect, Patent ductus arteriosus, Cor triatriatum, Wide nasal bridge, Pulmonic sten... |
OMIM:612541 |
| Femoral-Facial Syndrome |
|
Truncus arteriosus, Abnormal renal collecting system morphology, Underdeveloped nasal alae, Ventr... |
OMIM:134780 |
| Meckel Syndrome, Type 7 |
|
Atrial septal defect, Situs inversus totalis, Patent ductus arteriosus, Multicystic kidney dyspla... |
OMIM:267010 |
| Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Ureteral triplication, Patent ductus arteriosus, Wide nasal bridge, Hydronephrosis, Mitral valve ... |
OMIM:104350 |
| Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the urinary system, Abnormal localization of kidney, Abnormality of the ureter, Ap... |
ORPHA:1834 |
| Atrial Standstill |
|
Abnormal heart morphology, Muscular dystrophy, Flexion contracture, Skeletal muscle atrophy, Left... |
ORPHA:1344 |
| 46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Hypoplasia of the bladder, Ventricular septal defect, Pulmonary hypoplasia, Bilateral lung agenes... |
OMIM:611812 |
| Coach Syndrome 1 |
|
Nephronophthisis, Unilateral renal agenesis, Vascular dilatation, Renal cyst, Stage 5 chronic kid... |
OMIM:216360 |
| Williams-Beuren Region Duplication Syndrome |
|
Broad nasal tip, Unilateral renal agenesis, Patent ductus arteriosus, Hydronephrosis |
OMIM:609757 |
| Aortic Aneurysm, Familial Thoracic 10 |
|
Coronary artery atherosclerosis, Bicuspid aortic valve, Aortic root aneurysm, Abdominal aortic an... |
OMIM:617168 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Atrial septal defect, Horseshoe kidney, Ventricular septal defect, Pleural effusion, Pericardial ... |
OMIM:235510 |
| Suleiman-El-Hattab Syndrome |
|
Atrial septal defect, Ventricular septal defect, Wide nasal bridge, Hydronephrosis, Patent forame... |
OMIM:618950 |
| Serkal Syndrome |
|
Hypoplasia of the bladder, Ventricular septal defect, Abnormal penis morphology, Pulmonic stenosi... |
ORPHA:139466 |
| Partial Atrioventricular Septal Defect |
|
Anomalous pulmonary venous return, Abnormal tricuspid valve morphology, Coarctation of aorta, Pat... |
ORPHA:1330 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Atrial septal defect, Bulbous nose, Short nose, Ventricular septal defect, Patent ductus arterios... |
OMIM:613870 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Choanal atresia, Renal cyst, Polycystic kidney dysplasia, Depressed nasal bridge |
OMIM:610199 |
| Axial Osteomalacia |
|
Renal cyst |
OMIM:109130 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Dextrocardia, Atrial septal defect, Transposition of the great arteries, Ventricular septal defect |
OMIM:270100 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Vesicoureteral reflux, Hydronephrosis |
OMIM:618265 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Horseshoe kidney, Underdeveloped nasal alae, Ventricular septal defect, Abnormal vena cava morpho... |
ORPHA:166035 |
| Tarp Syndrome |
|
Horseshoe kidney, Wide nasal bridge, Hydronephrosis, Tetralogy of Fallot, Anteverted nares |
OMIM:311900 |
| Thauvin-Robinet-Faivre Syndrome |
|
Renal malrotation, Bifid ureter, Ventricular septal defect, Renal dysplasia, Nephroblastoma, Rena... |
OMIM:617107 |
| Nephronophthisis 1 |
|
Nephronophthisis, Hyposthenuria, Tubulointerstitial fibrosis, Polyuria, Renal tubular atrophy, Re... |
OMIM:256100 |
| Heart And Brain Malformation Syndrome |
|
Interrupted aortic arch, Ventricular septal defect, Wide nasal bridge, Anteverted nares, Depresse... |
OMIM:616920 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome |
|
Ventricular septal defect, Duplicated collecting system, Peripheral pulmonary artery stenosis, Wi... |
OMIM:280000 |
| Perlman Syndrome |
|
Nephroblastomatosis, Interrupted aortic arch, Nephrogenic rest, Wide nasal bridge, Nephroblastoma... |
OMIM:267000 |
| Duane-Radial Ray Syndrome |
|
Crossed fused renal ectopia, Renal malrotation, Horseshoe kidney, Atrial septal defect, Ventricul... |
OMIM:607323 |
| Adams-Oliver Syndrome 6 |
|
Renal hypoplasia, Truncus arteriosus, Ventricular septal defect |
OMIM:616589 |
| 15Q11.2 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta,... |
ORPHA:261183 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Pancreatic lymphangiectasis, Ventricular septal defect, Wide nasal bridge, Thyroid lymphangiectas... |
OMIM:235255 |
| Nephronophthisis 4 |
|
Nephronophthisis, Tubulointerstitial fibrosis, Polyuria, Renal tubular atrophy, Renal corticomedu... |
OMIM:606966 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Hypoplastic tricuspid valve, Atrial septal defect, Interrupted aortic arch, Ventricular septal de... |
ORPHA:2255 |
| Brain Malformations With Or Without Urinary Tract Defects |
|
Short nose, Renal hypoplasia, Vesicoureteral reflux, Hydronephrosis, Anteverted nares |
OMIM:613735 |
| Mental Retardation, Autosomal Dominant 42 |
|
Hydronephrosis |
OMIM:616973 |
| Nephronophthisis 3 |
|
Nephronophthisis, Tubulointerstitial fibrosis, Polyuria, Enuresis, Renal tubular atrophy, Renal c... |
OMIM:604387 |
| Leigh Syndrome With Nephrotic Syndrome |
|
Renal tubular acidosis, Tubulointerstitial nephritis, Renal cyst, Cardiomegaly, Nephrotic syndrom... |
ORPHA:255249 |
| Nephrotic Syndrome, Type 11 |
|
Focal segmental glomerulosclerosis, Ventricular septal defect, Renal tubular atrophy, Nephrotic s... |
OMIM:616730 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Renal dysplasia, Micropenis, Polycystic kidney dysplasia, Enlarged kidney |
OMIM:613091 |
| Igg4-Related Kidney Disease |
|
Hematuria, Acute kidney injury, Pericarditis, Interstitial pneumonitis, Pleuritis, Urinary bladde... |
ORPHA:449395 |
| Noonan Syndrome 4 |
|
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis, Hydronephrosis, Depressed nas... |
OMIM:610733 |
| Meckel Syndrome, Type 4 |
|
Atrial septal defect, Renal cyst, Ventricular septal defect |
OMIM:611134 |
| Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Complete atrioventricular canal defect, Coarctation of aorta, Subvalvular aortic stenosis |
OMIM:217085 |
| Joubert Syndrome 7 |
|
Nephronophthisis, Renal cyst |
OMIM:611560 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Dilated cardiomyopathy, Neonatal death, Left ventricular hypertrophy, Patent foramen ovale, Left ... |
OMIM:619167 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Cardiac total anomalous pulmonary venous connection, Atrial septal defect, Single ventricle, Vent... |
ORPHA:99125 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Atrial septal defect, Interrupted aortic arch, Ventricular septal defect, Underdeveloped nasal al... |
ORPHA:163979 |
| Genitopatellar Syndrome |
|
Atrial septal defect, Multicystic kidney dysplasia, Pulmonary hypoplasia, Hydronephrosis, Promine... |
ORPHA:85201 |
| Atresia Of Urethra |
|
Megacystis, Hydroureter, Recurrent urinary tract infections, Renal dysplasia, Vesicoureteral refl... |
ORPHA:105 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Atrial septal defect, Short nose, Patent ductus arteriosus, Bladder trabeculation, Ureteral hypop... |
OMIM:614080 |
| 8P23.1 Microdeletion Syndrome |
|
Short nose, Abnormal aortic morphology, Patent ductus arteriosus, Wide nasal bridge, Abnormal car... |
ORPHA:251071 |
| Familial Cerebral Saccular Aneurysm |
|
Abnormal circle of Willis morphology, Cerebral berry aneurysm, Atherosclerosis, Aortic root aneur... |
ORPHA:231160 |
| Keutel Syndrome |
|
Underdeveloped nasal alae, Ventricular septal defect, Recurrent sinusitis, Tracheal atresia, Pulm... |
ORPHA:85202 |
| Monosomy 18Q |
|
Left aortic arch with right descending aorta and right ductus arteriosus, Bulbous nose, Pulmonary... |
ORPHA:1600 |
| Czeizel-Losonci Syndrome |
|
Congenital megaureter, Abnormality of the urinary system, Dextrocardia, Pulmonary hypoplasia, Hyd... |
ORPHA:2437 |
| Carpenter Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect, Hydroureter, Patent ductus arteriosus, Pulmonic ... |
OMIM:201000 |
| Zellweger Syndrome |
|
Ventricular septal defect, Multicystic kidney dysplasia, Wide nasal bridge, Hydronephrosis, Hypos... |
ORPHA:912 |
| Atrial Septal Defect 1 |
|
Atrial septal defect, Atrial septal dilatation, Ventricular septal defect, Secundum atrial septal... |
OMIM:108800 |
| Desmoid Tumor |
|
Hydronephrosis, Abnormality of the upper urinary tract |
ORPHA:873 |
| Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Short nose, Underdeveloped nasal alae, Hydronephrosis, Hypoplasia of penis, Prominent nasal bridge |
ORPHA:2083 |
| Microcephaly 26, Primary, Autosomal Dominant |
|
Short nose, Wide nasal bridge, Hydronephrosis, Recurrent pneumonia, Patent foramen ovale, Promine... |
OMIM:619179 |
| Sick Sinus Syndrome 2 |
|
Left ventricular noncompaction, Mitral valve prolapse, Left ventricular hypertrophy |
OMIM:163800 |
| Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Patent foramen ovale, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617044 |
| Facial Dysmorphism With Multiple Malformations |
|
Bulbous nose, Short nose, Ventricular septal defect, Wide nasal bridge, Hydronephrosis, Tetralogy... |
OMIM:227255 |
| Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome |
|
Atrial septal defect, Bulbous nose, Ventricular septal defect, Cystic renal dysplasia, Patent duc... |
OMIM:220500 |
| Cerebellar-Facial-Dental Syndrome |
|
Ventricular septal defect, Laryngeal stridor, Wide nasal bridge, Ureteropelvic junction obstructi... |
ORPHA:444072 |
| Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Short nose, Underdeveloped nasal alae, Multicystic kidney dysplasia, Renal cyst, Anteverted nares |
ORPHA:2031 |
| Vater/Vacterl Association |
|
Renal agenesis, Abnormal nasopharynx morphology, Ventricular septal defect, Patent ductus arterio... |
OMIM:192350 |
| Digeorge Syndrome |
|
Right aortic arch with mirror image branching, Truncus arteriosus, Interrupted aortic arch, Ventr... |
OMIM:188400 |
| Intellectual Disability, Buenos-Aires Type |
|
Abnormal cardiac septum morphology, Hydronephrosis, Wide nasal bridge |
ORPHA:3079 |
| Floating-Harbor Syndrome |
|
Atrial septal defect, Coarctation of aorta, Hydronephrosis, Mesocardia, Congenital posterior uret... |
OMIM:136140 |
| Renal Coloboma Syndrome |
|
Renal hypoplasia, Multicystic kidney dysplasia, Renal dysplasia, Vesicoureteral reflux, Renal ins... |
ORPHA:1475 |
| Diaphanospondylodysostosis |
|
Multiple renal cysts |
ORPHA:66637 |
| Koolen-De Vries Syndrome |
|
Pear-shaped nose, Atrial septal defect, Bulbous nose, Ventricular septal defect, Recurrent urinar... |
OMIM:610443 |
| Koolen-De Vries Syndrome |
|
Bulbous nose, Underdeveloped nasal alae, Wide nasal bridge, Abnormal cardiac septum morphology, V... |
ORPHA:96169 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Atrial septal defect, Bulbous nose, Patent ductus arteriosus, Choanal atresia, Wide nasal bridge,... |
OMIM:300968 |
| Opitz Gbbb Syndrome |
|
Atrial septal defect, Abnormal heart morphology, Ventricular septal defect, Coarctation of aorta,... |
ORPHA:2745 |
| Aortic Valve Disease 1 |
|
Mitral atresia, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventricle, ... |
OMIM:109730 |
| Wolfram Syndrome 1 |
|
Neurogenic bladder, Hydronephrosis, Cardiomyopathy, Hydroureter |
OMIM:222300 |
| 8P Inverted Duplication/Deletion Syndrome |
|
Anteverted nares, Abnormal heart morphology, Abnormality of the urinary system, Wide nasal bridge... |
ORPHA:96092 |
| Marden-Walker Syndrome |
|
Renal agenesis, Situs inversus totalis, Hydroureter, Ventricular septal defect, Abnormal penis mo... |
ORPHA:2461 |
| Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Hydronephrosis |
OMIM:602418 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Spontaneous pneumothorax, Acute kidney injury, Enlarged kidney, Recurrent urinary tract infection... |
ORPHA:731 |
| 46,Xx Sex Reversal 5 |
|
Secundum atrial septal defect, Urogenital sinus anomaly, Hypoplastic left heart, Ventricular sept... |
OMIM:618901 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Pancreatic lymphangiectasis, Abnormal renal morphology, Ventricular septal defect, Hydronephrosis... |
ORPHA:1655 |
| 1Q21.1 Microdeletion Syndrome |
|
Bulbous nose, Interrupted aortic arch, Patent ductus arteriosus, Wide nasal bridge, Vesicouretera... |
ORPHA:250989 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Atrial septal defect, Underdeveloped nasal alae, Abnormal heart morphology, Ventricular septal de... |
ORPHA:453499 |
| 3-Methylglutaconic Aciduria Type 7 |
|
3-Methylglutaconic aciduria, Pneumothorax, Renal cyst, Renal insufficiency, Nephrocalcinosis, Car... |
ORPHA:445038 |
| Acrorenal-Mandibular Syndrome |
|
Abnormality of the ureter, Pulmonary hypoplasia, Polycystic kidney dysplasia, Renal agenesis, Apl... |
OMIM:200980 |
| Toluene Embryopathy |
|
Hydronephrosis, Short nose, Abnormal localization of kidney |
ORPHA:1920 |
| Hemifacial Microsomia |
|
Ventricular septal defect, Patent ductus arteriosus, Multicystic kidney dysplasia, Ureteropelvic ... |
OMIM:164210 |
| Microgastria-Limb Reduction Defects Association |
|
Horseshoe kidney, Cystic renal dysplasia, Secundum atrial septal defect, Unilateral renal agenesi... |
OMIM:156810 |
| Netherton Syndrome |
|
Emphysema, Aminoaciduria, Ectopic kidney, Hydronephrosis, Recurrent respiratory infections |
ORPHA:634 |
| Maternal Phenylketonuria |
|
Abnormal renal morphology, Abnormal heart morphology, Ventricular septal defect, Wide nasal bridg... |
ORPHA:2209 |
| Tempi Syndrome |
|
Abnormality of the pulmonary vasculature, Abnormality of the kidney, Transudative pleural effusion |
ORPHA:284227 |
| 2Q37 Microdeletion Syndrome |
|
Underdeveloped nasal alae, Abnormal aortic morphology, Tracheomalacia, Multicystic kidney dysplas... |
ORPHA:1001 |
| 9Q21.13 Microdeletion Syndrome |
|
Hydronephrosis, Abnormal heart morphology |
ORPHA:531151 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Underdeveloped nasal alae, Wide nasal bridge, Perimembranous ventricular septal defect, Pulmonary... |
ORPHA:83617 |
| Focal Dermal Hypoplasia |
|
Horseshoe kidney, Abnormality of the pulmonary vasculature, Ventricular septal defect, Patent duc... |
ORPHA:2092 |
| Holt-Oram Syndrome |
|
Anomalous pulmonary venous return, Atrial septal defect, Ventricular septal defect, Abnormal aort... |
ORPHA:392 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Albuminuria, Ventricular septal defect, Patent ductus arteriosus, Aminoaciduria, Pulmonary hypopl... |
OMIM:214100 |
| Khan-Khan-Katsanis Syndrome |
|
Short nose, Abnormal heart morphology, Renal hypoplasia, Patent ductus arteriosus, Vesicoureteral... |
OMIM:618460 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Anomalous pulmonary venous return, Atrial septal defect, Coarctation of aorta, Abnormal aortic va... |
ORPHA:1120 |
| Johanson-Blizzard Syndrome |
|
Short nose, Underdeveloped nasal alae, Dextrocardia, Hydronephrosis, Hypoplasia of penis, Hypospa... |
ORPHA:2315 |
| Seckel Syndrome 9 |
|
Atrial septal defect, Ventricular septal defect, Recurrent urinary tract infections, Pulmonary ar... |
OMIM:616777 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Dysuria, Unilateral renal hypoplasia, Hematuria, Acute kidney injury, Renovascular hypertension, ... |
ORPHA:49041 |
| Endove Syndrome, Limb-Brain Type |
|
Neurogenic bladder, Recurrent urinary tract infections, Hydronephrosis |
OMIM:619218 |
| Cystic Echinococcosis |
|
Abnormal heart morphology, Membranous nephropathy, Pulmonary cyst, Multiple pulmonary cysts, Rena... |
ORPHA:400 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Tubulointerstitial fibrosis, Renal hypoplasia, Glomerular sclerosis, Renal salt wasting, Renal tu... |
OMIM:174000 |
| Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Renal cyst, Depressed nasal bridge |
OMIM:614862 |
| Renal Agenesis |
|
Renal insufficiency, Aplasia/Hypoplasia of the bladder, Ventricular septal defect, Bilateral rena... |
ORPHA:411709 |
| Melnick-Needles Syndrome |
|
Abnormal cardiac septum morphology, Vesicoureteral reflux, Hydronephrosis, Recurrent respiratory ... |
ORPHA:2484 |
| Trisomy 8P |
|
Abnormal lung lobation, Short nose, Anteverted nares, Recurrent upper respiratory tract infection... |
ORPHA:264450 |
| Rubinstein-Taybi Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect, Recurrent upper respiratory tract infections, Ab... |
OMIM:180849 |
| Robinow Syndrome |
|
Pulmonary valve atresia, Tricuspid atresia, Atrial septal defect, Webbed penis, Broad nasal tip, ... |
ORPHA:97360 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Atrial septal defect, Horseshoe kidney, Single ventricle, Ventricular septal defect, Mitral atres... |
OMIM:306955 |
| Takenouchi-Kosaki Syndrome |
|
Bulbous nose, Unilateral renal agenesis, Patent ductus arteriosus, Wide nasal bridge, Pulmonic st... |
OMIM:616737 |
| Cardiac-Urogenital Syndrome |
|
Scimitar anomaly, Atrial septal defect, Ventricular septal defect, Dysplastic tricuspid valve, Pa... |
OMIM:618280 |
| Naxos Disease |
|
Dilated cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Right ventricular ca... |
OMIM:601214 |
| Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Abnormal aortic morphology, Hypoplastic left heart, Patent ductus arteriosus |
ORPHA:2001 |
| Neurodevelopmental Disorder With Spastic Quadriplegia, Optic Atrophy, Seizures, And Structural Brain Anomalies |
|
Perimembranous ventricular septal defect |
OMIM:618651 |
| Scleromyxedema |
|
Abnormal pulmonary artery morphology, Abnormal coronary artery morphology, Abnormal lung morpholo... |
ORPHA:167635 |
| Joubert Syndrome 14 |
|
Prominent nasal bridge, Renal cyst |
OMIM:614424 |
| Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects |
|
Atrial septal defect, Ventricular septal defect, Wide nasal bridge, Vesicoureteral reflux, Atriov... |
OMIM:600123 |
| Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Horseshoe kidney, Renal cyst, Underdeveloped nasal alae, Ventricular septal defect |
OMIM:250410 |
| Genitopalatocardiac Syndrome |
|
Hypospadias, Abnormal cardiac septum morphology, Wide nasal bridge, Multicystic kidney dysplasia |
ORPHA:2075 |
| Alzahrani-Kuwahara Syndrome |
|
Atrial septal defect, Bulbous nose, Ventricular septal defect, Pulmonary artery sling, Coronary s... |
OMIM:619268 |
| Endove Syndrome, Limb-Only Type |
|
Vesicoureteral reflux, Hydronephrosis |
OMIM:619217 |
| Lymphangioleiomyomatosis |
|
Renal neoplasm, Multiple renal cysts, Abnormal urinary color, Hematuria, Renal angiomyolipoma, Em... |
ORPHA:538 |
| Frontometaphyseal Dysplasia 1 |
|
Hydroureter, Cor pulmonale, Wide nasal bridge, Hydronephrosis, Mitral valve prolapse |
OMIM:305620 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Renal agenesis, Single ventricle, Pulmonary hypoplasia, Hydronephrosis, Renal hypoplasia/aplasia,... |
OMIM:308050 |
| Caroli Disease |
|
Polycystic kidney dysplasia |
ORPHA:53035 |
| Alagille Syndrome 1 |
|
Atrial septal defect, Focal segmental glomerulosclerosis, Renal hypoplasia, Ventricular septal de... |
OMIM:118450 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Ventricular septal defect, Unilateral renal agenesis, Patent ductus arteriosus, Aortic valve sten... |
ORPHA:464311 |
| Teebi-Shaltout Syndrome |
|
Horseshoe kidney, Underdeveloped nasal alae, Ventricular septal defect, Wide nasal bridge, Aortic... |
OMIM:272950 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Abnormal lung lobation, Atrial septal defect, Abnormal heart morphology, Congenital megaureter, R... |
ORPHA:369837 |
| Baller-Gerold Syndrome |
|
Short nose, Abnormal localization of kidney, Abnormality of the ureter, Vesicoureteral reflux, Hy... |
ORPHA:1225 |
| Nabais Sa-De Vries Syndrome, Type 2 |
|
Bulbous nose, Multicystic kidney dysplasia, Hypoplastic left heart, Prominent nose, Prominent nas... |
OMIM:618829 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Descending thoracic aorta aneurysm, Carotid artery dilatation, Patent ductus arteriosus, Coronary... |
ORPHA:91387 |
| Kabuki Syndrome |
|
Crossed fused renal ectopia, Coarctation of aorta, Duplicated collecting system, Abnormal localiz... |
ORPHA:2322 |
| Meckel Syndrome, Type 6 |
|
Pulmonary hypoplasia, Renal cyst |
OMIM:612284 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Atrial septal defect, Ventricular septal defect, Male urethral meatus stenosis, Left superior ven... |
ORPHA:464738 |
| Zimmermann-Laband Syndrome 1 |
|
Long penis, Patent ductus arteriosus, Wide nasal bridge, Aortic root aneurysm, Nephrolithiasis, C... |
OMIM:135500 |
| 7Q11.23 Microduplication Syndrome |
|
Atrial septal defect, Ventricular septal defect, Unilateral renal agenesis, Enuresis, Patent duct... |
ORPHA:96121 |
| Mesomelia-Synostoses Syndrome |
|
Hydronephrosis, Bulbous nose |
ORPHA:2496 |
| Senior-Loken Syndrome 3 |
|
Nephronophthisis, Polyuria, Enuresis, Renal corticomedullary cysts, Stage 5 chronic kidney disease |
OMIM:606995 |
| Tuberous Sclerosis 1 |
|
Cardiac rhabdomyoma, Renal angiomyolipoma, Renal cell carcinoma, Renal cyst, Pulmonary lymphangio... |
OMIM:191100 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Atrial septal defect, Abnormal renal collecting system morphology, Short nose, Hydroureter, Hyper... |
ORPHA:280633 |
| Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Hematuria, Urinary bladder inflammation, Renal dysplasia, Hydronephrosis, Urethral stricture, Apl... |
ORPHA:79403 |
| Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Hydronephrosis |
OMIM:618060 |
| Pfeiffer Syndrome Type 3 |
|
Horseshoe kidney, Short nose, Choanal atresia, Tracheomalacia, Laryngomalacia, Vesicoureteral ref... |
ORPHA:93260 |
| Branchio-Oculo-Facial Syndrome |
|
Wide nasal bridge, Multicystic kidney dysplasia, Hydronephrosis, Broad nasal tip, Renal agenesis |
ORPHA:1297 |
| Renal Cysts And Diabetes Syndrome |
|
Abnormal renal morphology, Decreased numbers of nephrons, Renal hypoplasia, Proteinuria, Unilater... |
OMIM:137920 |
| Peters Plus Syndrome |
|
Short nose, Abnormal pulmonary vein morphology, Patent ductus arteriosus, Multicystic kidney dysp... |
ORPHA:709 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Dysuria, Ureteral obstruction, Aplasia/Hypoplasia of the bladder, Hydroureter, Renal tubular epit... |
ORPHA:79404 |
| Pentalogy Of Cantrell |
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Atrial septal defect, Renal agenesis, Ventricular septal defect, Abnormal pericardium morphology,... |
ORPHA:1335 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
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Renal hypoplasia, Hydronephrosis, Aminoaciduria |
OMIM:617913 |
| Chromosome 2P16.1-P15 Deletion Syndrome |
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Recurrent upper respiratory tract infections, Wide nasal bridge, Laryngomalacia, Hydronephrosis, ... |
OMIM:612513 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
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Abnormal renal collecting system morphology, Interrupted aortic arch, Patent ductus arteriosus, R... |
ORPHA:17 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
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Unilateral renal agenesis, Hypoplastic aortic arch, Anteverted nares |
ORPHA:457284 |
| Alkaptonuria |
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Aortic aneurysm, Mitral valve calcification, Elevated urinary homogentisic acid, Coronary artery ... |
OMIM:203500 |
| Smith-Lemli-Opitz Syndrome |
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Atrial septal defect, Anteverted nares, Ventricular septal defect, Renal hypoplasia, Coarctation ... |
OMIM:270400 |
| Diaphanospondylodysostosis |
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Nephroblastomatosis, Short nose, Cystic renal dysplasia, Nephrogenic rest, Enlarged kidney, Trach... |
OMIM:608022 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
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Renal cortical microcysts, Renal cyst, Abnormal heart morphology |
OMIM:614866 |
| Tarp Syndrome |
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Atrial septal defect, Horseshoe kidney, Wide nasal bridge, Pulmonary hypoplasia, Hydronephrosis, ... |
ORPHA:2886 |
| Phace Association |
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Arterial stenosis, Ventricular septal defect, Patent ductus arteriosus, Vascular dilatation, Coar... |
OMIM:606519 |
| Trisomy 20P |
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Multiple renal cysts, Short nose, Abnormality of the ureter, Abnormal localization of kidney, Hyd... |
ORPHA:261318 |
| Dyrk1A-Related Intellectual Disability Syndrome |
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Ventricular septal defect, Unilateral renal agenesis, Patent ductus arteriosus, Aortic valve sten... |
ORPHA:464306 |
| Granulomatosis With Polyangiitis |
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Hematuria, Pericarditis, Pleuritis, Pulmonary fibrosis, Recurrent respiratory infections, Recurre... |
ORPHA:900 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Situs inversus totalis, Ventricular septal defect, Wide nasal bridge, Pulmonary artery atresia, T... |
ORPHA:1908 |
| Pseudotrisomy 13 Syndrome |
|
Tricuspid atresia, Atrial septal defect, Ventricular septal defect, Renal hypoplasia, Complete at... |
OMIM:264480 |
| Cerebrocostomandibular Syndrome |
|
Anomalous tracheal cartilage, Atrial septal defect, Horseshoe kidney, Ventricular septal defect, ... |
OMIM:117650 |
| Jacobsen Syndrome |
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Short nose, Ventricular septal defect, Multicystic kidney dysplasia, Wide nasal bridge, Aortic va... |
ORPHA:2308 |
| Criss-Cross Heart |
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Ventricular septal defect, Abnormal mitral valve morphology, Pulmonic stenosis, Tricuspid stenosi... |
ORPHA:1461 |
| Kaposiform Lymphangiomatosis |
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Abnormal lung morphology, Multiple renal cysts, Enlarged kidney, Pleural effusion, Pericardial ef... |
ORPHA:464329 |
| De Barsy Syndrome |
|
Prominent veins on trunk, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic aortic... |
ORPHA:2962 |
| Autosomal Recessive Robinow Syndrome |
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Atrial septal defect, Short nose, Abnormal tricuspid valve morphology, Ventricular septal defect,... |
ORPHA:1507 |
| Micro Syndrome |
|
Short nose, Wide nasal bridge, Abnormal localization of kidney, Hydronephrosis, Hypoplasia of pen... |
ORPHA:2510 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
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Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Delayed puberty, Right... |
OMIM:300967 |
| Mosaic Trisomy 16 |
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Atrial septal defect, Horseshoe kidney, Abnormal lung morphology, Ventricular septal defect, Abno... |
ORPHA:1708 |
| Roberts-Sc Phocomelia Syndrome |
|
