Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot |
OMIM:601127 |
Genitopalatocardiac Syndrome |
|
Double outlet right ventricle, Hypospadias, Ventricular septal defect, Renal cyst, Transposition ... |
OMIM:231060 |
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities |
|
Duplicated collecting system, Hydronephrosis |
OMIM:163850 |
Congenital Heart Defects, Multiple Types, 5 |
|
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... |
OMIM:617912 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Double outlet right ventricle, Bicuspid aortic valve, Hypoplastic left heart, Unilateral renal ag... |
OMIM:618845 |
Cayler Cardiofacial Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot |
OMIM:125520 |
Indomethacin Embryofetopathy |
|
Atrial septal defect, Abnormal renal tubule morphology, Multicystic kidney dysplasia, Nephropathy... |
ORPHA:1909 |
Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Secundum atrial septal defect, Pulmonic stenosis, Single ventricle... |
OMIM:613854 |
Megabladder, Congenital |
|
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Hyper... |
OMIM:618719 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Pulmonic stenosis, Hydroureter, Hydronephrosis |
OMIM:264140 |
8P23.1 Duplication Syndrome |
|
Pulmonic stenosis, Ventricular septal defect, Hydronephrosis, Tetralogy of Fallot |
ORPHA:251076 |
Renal Hypodysplasia/Aplasia 3 |
|
Renal agenesis, Multicystic kidney dysplasia, Renal dysplasia, Horseshoe kidney, Hydronephrosis, ... |
OMIM:617805 |
RCAD (renal cysts and diabetes) |
|
Multiple renal cysts |
DECIPHER:47 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Cystic renal dysplasia, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Vesicourete... |
OMIM:601331 |
Aorta Coarctation |
|
Bicuspid aortic valve, Stroke, Hypoplastic left heart, Aortic valve atresia, Coarctation of the d... |
ORPHA:1457 |
Nephronophthisis 16 |
|
Aortic valve stenosis, Nephronophthisis, Pulmonic stenosis, Enlarged kidney, Situs inversus total... |
OMIM:615382 |
Congenital Heart Defects, Multiple Types, 4 |
|
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort... |
OMIM:615779 |
Conotruncal Heart Malformations |
|
Double outlet right ventricle, Coarctation of aorta, Complete atrioventricular canal defect, Tran... |
OMIM:217095 |
Long Qt Syndrome 16 |
|
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect |
OMIM:618782 |
Nephronophthisis 20 |
|
Renal cyst, Renal insufficiency, Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:617271 |
Testicular Anomalies With Or Without Congenital Heart Disease |
|
Perineal hypospadias, Microphallus, Tetralogy of Fallot, Micropenis |
OMIM:615542 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Renal cyst, Vesicoureteral reflux, Ectopic kidney, Hydronephrosis |
OMIM:618270 |
Ritscher-Schinzel Syndrome 1 |
|
Double outlet right ventricle, Hydrocephalus, Atrial septal defect, Aortic valve stenosis, Hypopl... |
OMIM:220210 |
Renal Tubular Dysgenesis |
|
Nephropathy, Renotubular dysgenesis, Multiple renal cysts, Tetralogy of Fallot, Proximal tubulopathy |
ORPHA:3033 |
Thomas Syndrome |
|
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Hypoplastic left heart |
ORPHA:3316 |
Renal Caliceal Diverticuli-Deafness Syndrome |
|
Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Abnormality of th... |
ORPHA:2838 |
Bardet-Biedl Syndrome 10 |
|
Abnormality of the kidney, Renal cyst, Renal insufficiency |
OMIM:615987 |
Tricuspid Atresia |
|
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Pulmonary artery atresia, Ventricu... |
ORPHA:1209 |
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Ventricular septal defect, Renal cyst, Renal hypoplasia, Truncus arteriosus |
OMIM:228940 |
Nephronophthisis 14 |
|
Situs inversus totalis, Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
Congenital Primary Megaureter |
|
Nephrolithiasis, Congenital megaureter, Abnormal penis morphology, Abnormality of the upper urina... |
ORPHA:617 |
Mungan Syndrome |
|
Pulmonic stenosis, Renal hypoplasia, Vesicoureteral reflux, Perimembranous ventricular septal defect |
OMIM:611376 |
Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia |
|
Ventricular septal defect, Hypoplastic right heart, Tetralogy of Fallot |
OMIM:601348 |
Heterotaxy, Visceral, 6, Autosomal |
|
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... |
OMIM:614779 |
Aortic Valve Disease 1 |
|
Mitral stenosis, Double outlet right ventricle, Bicuspid aortic valve, Aortic valve stenosis, Mit... |
OMIM:109730 |
Polycystic Kidney Disease 5 |
|
Polycystic kidney dysplasia, Hyperechogenic kidneys, Stage 5 chronic kidney disease |
OMIM:617610 |
Heterotaxy, Visceral, 4, Autosomal |
|
Atrioventricular canal defect, Dextrotransposition of the great arteries, Pulmonary artery atresi... |
OMIM:613751 |
Congenital Megacalycosis |
|
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... |
ORPHA:93109 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Atrial septal defect, Muscular ventricular septal defect, Unilateral renal agenesis, Micropenis, ... |
ORPHA:363444 |
2p15-16.1 microdeletion syndrome |
|
Hydronephrosis |
DECIPHER:70 |
Bardet-Biedl Syndrome 16 |
|
Renal agenesis, Abnormality of the kidney, Renal dysplasia, Renal cyst, Renal insufficiency |
OMIM:615993 |
Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia |
OMIM:618254 |
Alagille Syndrome 2 |
|
Peripheral pulmonary artery stenosis, Renal tubular acidosis, Atrial septal defect, Pulmonic sten... |
OMIM:610205 |
Recombinant Chromosome 8 Syndrome |
|
Double outlet right ventricle, Atrial septal defect, Pulmonic stenosis, Tetralogy of Fallot, Vent... |
OMIM:179613 |
Diabetic Embryopathy |
|
Hydrocephalus, Renal hypoplasia/aplasia, Micropenis, Ureteral duplication, Tetralogy of Fallot, V... |
ORPHA:1926 |
Heterotaxy, Visceral, 8, Autosomal |
|
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... |
OMIM:617205 |
Heterotaxy, Visceral, 12, Autosomal |
|
Single coronary artery origin, Ventricular septal defect, Double outlet right ventricle, Dextrotr... |
OMIM:619702 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Hydrocephalus, Urethral atresia, Atrioventricular canal defect, Enlarged kidney, Transposition of... |
OMIM:314390 |
Hanac Syndrome |
|
Renal insufficiency, Hematuria, Multiple renal cysts |
ORPHA:73229 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Ventricular septal defect, Unilateral renal agenesis, Hydranencephaly, Truncus arteriosus |
OMIM:601355 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Coarctation of aorta, P... |
OMIM:618164 |
Meckel Syndrome, Type 4 |
|
Hydrocephalus, Atrial septal defect, Anencephaly, Ventricular septal defect, Renal cyst, Meningoc... |
OMIM:611134 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Double outlet right ventricle, Atrial septal defect, Hypospadias, Tetralogy of Fallot, Pulmonary ... |
OMIM:618316 |
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Abnormality of the urinary system, Hydronephrosis |
ORPHA:2669 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect, Pulmonary artery atresia |
OMIM:178370 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Renal hypoplasia/aplasia, Multiple renal cysts, Tetralogy of Fallot, Ventricular septal defect, V... |
ORPHA:1166 |
Ring Chromosome 8 Syndrome |
|
Abnormality of the ureter, Hydronephrosis |
ORPHA:1450 |
Cardiac Valvular Dysplasia 1 |
|
Tricuspid valve prolapse, Mitral stenosis, Tricuspid atresia, Hydroureter, Urethral diverticulum,... |
OMIM:212093 |
Partial Atrioventricular Septal Defect |
|
Double outlet right ventricle, Partial atrioventricular canal defect, Bacterial endocarditis, Ano... |
ORPHA:1330 |
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects |
|
Myelomeningocele, Hydrocephalus, Spina bifida occulta, Hydronephrosis, Ureteral atresia |
OMIM:183802 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect |
OMIM:614429 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Congenital megaureter, Hydroureter, Hyperechogenic kidneys, Renal dysplasia, Ureteropelvic juncti... |
OMIM:143400 |
Meckel Syndrome, Type 9 |
|
Multicystic kidney dysplasia, Occipital encephalocele |
OMIM:614209 |
Heterotaxy, Visceral, 1, X-Linked |
|
Hydrocephalus, Atrioventricular canal defect, Enlarged kidney, Ventricular septal defect, Horsesh... |
OMIM:306955 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Pulmonic stenosis, Perimembranous ventricular septal defect, Transposition of the great arteries,... |
OMIM:617877 |
Hepatorenocardiac Degenerative Fibrosis |
|
Reduced renal corticomedullary differentiation, Hyperechogenic kidneys, Enlarged kidney, Renal in... |
OMIM:619902 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Cerebral berry aneurysm, Hepatic cysts, Mitral valve prolapse, Polycystic kidney dysplasia, Renal... |
OMIM:173900 |
Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of ... |
OMIM:614980 |
Fanconi Anemia, Complementation Group O |
|
Renal cyst, Stage 5 chronic kidney disease, Hydronephrosis, Abnormal heart morphology |
OMIM:613390 |
Right Atrial Isomerism |
|
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... |
OMIM:208530 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Hypoplastic tricuspid valve, Atrial septal defect, Pulmonic stenosis, Total absence of the perica... |
OMIM:600001 |
Meckel Syndrome, Type 11 |
|
Polycystic kidney dysplasia, Occipital encephalocele |
OMIM:615397 |
Vesicoureteral Reflux 3 |
|
Hydroureter, Vesicoureteral reflux, Hydronephrosis |
OMIM:613674 |
Polysyndactyly With Cardiac Malformation |
|
Ventricular septal defect, Renal cyst, Atrial septal defect, Hepatic cysts |
OMIM:263630 |
Cardiomyopathy, Dilated, 1S |
|
Bicuspid aortic valve, Left ventricular noncompaction, Coarctation of aorta, Interstitial cardiac... |
OMIM:613426 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Stroke, Nephropathy, Hematuria, Renal cyst, Vascular dilatation, Renal insufficiency, Retinal art... |
OMIM:611773 |
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies |
|
Renal cyst |
OMIM:138790 |
Scimitar Syndrome |
|
Tricuspid atresia, Anomalous pulmonary venous return, Ventricular septal defect, Descending aorta... |
ORPHA:185 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Ventricular septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot |
OMIM:617992 |
Cranioacrofacial Syndrome |
|
Pulmonic stenosis, Ventricular septal defect |
OMIM:122850 |
Autosomal Dominant Polycystic Kidney Disease |
|
Nephrolithiasis, Chronic kidney disease, Decreased glomerular filtration rate, Abnormal urinary e... |
ORPHA:730 |
Joubert Syndrome 16 |
|
Renal cyst, Encephalocele, Nephronophthisis |
OMIM:614465 |
Renal Hypoplasia |
|
Chronic kidney disease, Unilateral renal agenesis, Abnormal renal tubule morphology, Abnormality ... |
ORPHA:93101 |
Lethal Congenital Contracture Syndrome 2 |
|
Ventricular septal defect, Dilated cardiomyopathy, Hydronephrosis |
OMIM:607598 |
Urofacial Syndrome 2 |
|
Bladder trabeculation, Spastic/hyperactive bladder, Recurrent urinary tract infections, Urinary u... |
OMIM:615112 |
Immunodeficiency, Common Variable, 6 |
|
Mesangial Immune complex deposition, Nephrotic range proteinuria, Macroscopic hematuria, Enlarged... |
OMIM:613496 |
Whim Syndrome 2 |
|
Tetralogy of Fallot |
OMIM:619407 |
Tetralogy Of Fallot |
|
Tetralogy of Fallot |
OMIM:187500 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
Congenital Gerbode Defect |
|
Bacterial endocarditis, Right atrial enlargement, Right ventricular hypertrophy, Pulmonic stenosi... |
ORPHA:99095 |
22Q11.2 Duplication Syndrome |
|
Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Urethral stenosis, Transp... |
ORPHA:1727 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Tricuspid atresia, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Partial ... |
OMIM:617478 |
6P22 Microdeletion Syndrome |
|
Hydrocephalus, Patent ductus arteriosus, Hydronephrosis |
ORPHA:251046 |
Prune Belly Syndrome |
|
Hydroureter, Patent ductus arteriosus, Hydronephrosis, Urethral valve, Congenital posterior ureth... |
OMIM:100100 |
Macdermot-Winter Syndrome |
|
Hydronephrosis |
OMIM:247990 |
Hinman Syndrome |
|
Recurrent urinary tract infections, Renal insufficiency, Hydronephrosis, Enuresis, Vesicoureteral... |
ORPHA:84085 |
Cleft Palate, Cardiac Defects, And Mental Retardation |
|
Atrial septal defect, Secundum atrial septal defect, Coarctation of aorta, Ventricular septal def... |
OMIM:600987 |
Prune Belly Syndrome |
|
Urogenital sinus anomaly, Atrial septal defect, Abnormality of the ureter, Hydroureter, Multicyst... |
ORPHA:2970 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Aortic valve stenosis, Pulmonic stenosis, Cystic renal dysplasia, Enlarged kidney, Situs inversus... |
OMIM:615415 |
Fetal Encasement Syndrome |
|
Horseshoe kidney, Increased urinary 8-oxo-7,8-dihydroguanosine level, Tetralogy of Fallot |
OMIM:613630 |
Dysmyelination With Jaundice |
|
Hydroureter, Hypoplasia of penis, Hydronephrosis |
OMIM:224250 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Abnormal renal morpho... |
ORPHA:477817 |
Verheij Syndrome |
|
Renal agenesis, Abnormal cardiac septum morphology, Renal cyst, Renal hypoplasia |
OMIM:615583 |
Heterotaxy, Visceral, 5, Autosomal |
|
Double outlet right ventricle, Atrial septal defect, Double inlet left ventricle, Atrioventricula... |
OMIM:270100 |
Heterotaxy, Visceral, 2, Autosomal |
|
Double outlet right ventricle, Atrioventricular canal defect, Situs inversus totalis, Dextrocardi... |
OMIM:605376 |
Laubry-Pezzi Syndrome |
|
Bicuspid aortic valve, Left ventricular hypertrophy, Abnormal coronary artery morphology, Ventric... |
ORPHA:99094 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Hydrocephalus, Micropenis, Anencephaly, Renal dysplasia, Renal cyst, Hydronephrosis, Occipital en... |
OMIM:615287 |
Microphthalmia, Syndromic 9 |
|
Atrial septal defect, Pulmonic stenosis, Single ventricle, Coarctation of aorta, Tetralogy of Fal... |
OMIM:601186 |
Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot |
OMIM:187501 |
Phenobarbital Embryopathy |
|
Abnormal mitral valve morphology, Hypospadias, Tetralogy of Fallot |
ORPHA:1919 |
Congenital Alveolar Capillary Dysplasia |
|
Pulmonary valve atresia, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Hypo... |
ORPHA:210122 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Double outlet right ventricle, Anomalous pulmonary venous return, Atrial septal defect, Thoracic ... |
OMIM:619657 |
16P13.11 Microduplication Syndrome |
|
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Trans... |
ORPHA:261243 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:2091 |
Ventricular Septal Defect 3 |
|
Ventricular septal defect, Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus |
OMIM:614432 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Duplicated collecting system, Hydronephrosis |
OMIM:617093 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Ventricular septal defect, Abnormal aortic valve cusp morphology, Abnormal heart morphology, Righ... |
ORPHA:216694 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Double outlet right ventricle, Atrial septal defect, Pulmonic stenosis, Tetralogy of Fallot, Pate... |
ORPHA:3304 |
Transketolase Deficiency |
|
Atrial septal defect, Abnormal coronary artery course, Increased level of ribose in urine, Ventri... |
ORPHA:488618 |
Sandestig-Stefanova Syndrome |
|
Perimembranous ventricular septal defect, Muscular ventricular septal defect |
OMIM:618804 |
Urofacial Syndrome 1 |
|
Hydroureter, Recurrent urinary tract infections, Hydronephrosis, Urethral valve, Urethral obstruc... |
OMIM:236730 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Coarctation of aorta, Patent ductus arteriosus, Transposition of the great... |
OMIM:612474 |
Atrial Septal Defect 2 |
|
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Ventricular septal defect... |
OMIM:607941 |
Isolated Dandy-Walker Malformation |
|
Encephalocele, Tetralogy of Fallot |
ORPHA:217 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Chronic kidney disease, Nephropathy, Focal segmental glomerulosclerosis, Renal cyst, Vascular dil... |
OMIM:617056 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Abnormal cardiac septum morphology, Renal agenesis, Renal hypoplasia, Hydronephrosis, Abnormal he... |
OMIM:618494 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Ventricular septal defect, Abnormal cardiac septum morphology, Hydrocephalus, Abnormal localizati... |
ORPHA:83473 |
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Stage 2 chronic kidney disease, Hypospadias, Recurrent urinary tract infections, Hydronephrosis, ... |
OMIM:191800 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Patent ductus arteriosus, Perimembranous ventricular septal defect |
OMIM:608104 |
Ventriculomegaly With Cystic Kidney Disease |
|
Hydrocephalus, Ventricular septal defect, Vascular dilatation, Renal insufficiency, Renal cortico... |
OMIM:219730 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Spina bifida, Anencephaly, Hypoplastic left heart |
ORPHA:2476 |
Meckel Syndrome 13 |
|
Polycystic kidney dysplasia, Occipital encephalocele |
OMIM:617562 |
Chromosome 9P Deletion Syndrome |
|
Atrial septal defect, Micropenis, Hypospadias, Ventricular septal defect, Patent ductus arteriosu... |
OMIM:158170 |
Renal Dysplasia |
|
Enlarged kidney, Thickened glomerular basement membrane, Congenital posterior urethral valve, Rec... |
ORPHA:93108 |
Double Outlet Right Ventricle |
|
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Coarctation of aorta, T... |
ORPHA:3426 |
Mckusick-Kaufman Syndrome |
|
Urogenital sinus anomaly, Renal hypoplasia/aplasia, Atrial septal defect, Hypoplastic left heart,... |
ORPHA:2473 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Renal cyst |
OMIM:614870 |
Maternal Phenylketonuria |
|
Double outlet right ventricle, Hypoplastic left heart, Coarctation of aorta, Tetralogy of Fallot,... |
ORPHA:2209 |
Bardet-Biedl Syndrome 4 |
|
Abnormality of the kidney, Renal cyst |
OMIM:615982 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Bicuspid aortic valve, Atrioventricular canal defect, Renal agenesis, Hypospadias, Coarctation of... |
ORPHA:508498 |
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
|
Micropenis, Renal agenesis, Hypospadias, Ventricular septal defect, Umbilical hernia, Hydronephro... |
OMIM:301040 |
Isolated Polycystic Liver Disease |
|
Vascular dilatation, Multiple renal cysts |
ORPHA:2924 |
Cat-Eye Syndrome |
|
Renal hypoplasia/aplasia, Abnormal localization of kidney, Hydronephrosis |
ORPHA:195 |
Joubert Syndrome 18 |
|
Ventricular septal defect, Horseshoe kidney |
OMIM:614815 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Double outlet right ventricle, Renal tubular dysfunction, Hydrocephalus, Atrial septal defect, Pa... |
OMIM:614886 |
Pseudotrisomy 13 Syndrome |
|
Tricuspid atresia, Hydrocephalus, Atrial septal defect, Holoprosencephaly, Micropenis, Renal agen... |
OMIM:264480 |
Polycystic Liver Disease 4 With Or Without Kidney Cysts |
|
Renal cyst, Hepatic cysts |
OMIM:617875 |
Polycystic Liver Disease 3 With Or Without Kidney Cysts |
|
Renal cyst, Hepatic cysts |
OMIM:617874 |
Cat Eye Syndrome |
|
Tricuspid atresia, Atrial septal defect, Hypoplastic left heart, Pulmonic stenosis, Renal agenesi... |
OMIM:115470 |
Image Syndrome |
|
Hypospadias, Hydronephrosis |
ORPHA:85173 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Renal cyst |
OMIM:174050 |
Distal Tetrasomy 15Q |
|
Hydrocephalus, Atrial septal defect, Abnormality of the kidney, Nephroblastoma, Polycystic kidney... |
ORPHA:314588 |
Medullary cystic kidney disease 2 |
|
Renal tubular atrophy, Multiple renal cysts, Tubulointerstitial nephritis, Multiple small medulla... |
OMIM:603860 |
Primary Ciliary Dyskinesia |
|
Double outlet right ventricle, Hydrocephalus, Anomalous pulmonary venous return, Situs inversus t... |
ORPHA:244 |
3C Syndrome |
|
Abnormal mitral valve morphology, Hydrocephalus, Atrial septal defect, Aortic valve stenosis, Hyp... |
ORPHA:7 |
Czeizel-Losonci Syndrome |
|
Myelomeningocele, Hydrocephalus, Congenital megaureter, Abnormality of the urinary system, Spina ... |
ORPHA:2437 |
Hadziselimovic Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Pulmonary artery atresia, Ventricular septal defect, R... |
OMIM:612946 |
Encephalocraniocutaneous Lipomatosis |
|
Hydrocephalus, Peripheral pulmonary artery stenosis, Atrial septal defect, Ventricular septal def... |
OMIM:613001 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Polycystic kidney dysplasia, Vascular dilatation |
OMIM:614859 |
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Hydronephrosis |
OMIM:235760 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Abnormal cardiac septum morphology, Hypospadias, Hydronephrosis |
OMIM:616449 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Double outlet right ventricle, Micropenis, Pulmonic stenosis, Hypospadias, Pulmonary artery atres... |
OMIM:301056 |
46,Xx Sex Reversal 5 |
|
Ventricular septal defect, Urogenital sinus anomaly, Secundum atrial septal defect, Hypoplastic l... |
OMIM:618901 |
Congenital Heart Defects, Multiple Types, 3 |
|
Persistent left superior vena cava, Atrial septal defect, Tetralogy of Fallot, Abnormal heart mor... |
OMIM:614954 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Anomalous pulmonary venous return, Abnormality of the urinary system, Tetralogy of Fallot, Commun... |
ORPHA:2184 |
Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Hydroureter, Hydronephrosis |
OMIM:618240 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Abnormality of the kidney, Cystic renal dysplasia, Ectopic kidney |
OMIM:613730 |
Cystic Hamartoma Of Lung And Kidney |
|
Multicystic kidney dysplasia |
ORPHA:2111 |
Heterotaxy, Visceral, 7, Autosomal |
|
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Right ao... |
OMIM:616749 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Recurrent urinary tract infections, Multiple renal cysts, Hepatic cysts, Situs inversus totalis, ... |
OMIM:613095 |
Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Renal dysplasia |
ORPHA:3032 |
Nephronophthisis 9 |
|
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613824 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Pulmonary arter... |
OMIM:108900 |
Orofaciodigital Syndrome Xv |
|
Hydronephrosis |
OMIM:617127 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Subvalvular aortic stenosis, Complete atrioventricular canal defect, Coarctation of aorta |
OMIM:217085 |
Autosomal Dominant Coarctation Of Aorta |
|
Hypoplastic left heart, Ventricular septal defect, Aortic arch aneurysm, Abnormal aortic arch mor... |
ORPHA:1455 |
Thakker-Donnai Syndrome |
|
Tetralogy of Fallot, Communicating hydrocephalus, Ventricular septal defect, Transposition of the... |
ORPHA:1780 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Polycystic kidney dysplasia, Dilatation of the cerebral artery, Hepatic cysts |
OMIM:600666 |
Meckel Syndrome, Type 5 |
|
Renal cyst, Occipital encephalocele, Anencephaly |
OMIM:611561 |
Diaphanospondylodysostosis |
|
Myelomeningocele, Multiple renal cysts |
ORPHA:66637 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... |
ORPHA:860 |
Posterior Urethral Valve |
|
Dysuria, Unilateral renal dysplasia, Chronic kidney disease, Recurrent urinary tract infections, ... |
ORPHA:93110 |
Meacham Syndrome |
|
Anomalous pulmonary venous return, Atrial septal defect, Aortic valve stenosis, Hypoplastic left ... |
ORPHA:3097 |
Fetal Trimethadione Syndrome |
|
Atrial septal defect, Hypospadias, Tetralogy of Fallot, Ventricular septal defect, Transposition ... |
ORPHA:1913 |
Vacterl/Vater Association |
|
Abnormal cardiac septum morphology, Hypoplasia of penis, Renal agenesis, Hypospadias, Abnormality... |
ORPHA:887 |
Ochoa Syndrome |
|
Recurrent urinary tract infections, Renal insufficiency, Hydronephrosis, Urethral obstruction, Ve... |
ORPHA:2704 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Ureteral agenesis, Renal dysplasia, Renal cyst, Renal hypoplasia, Hydranencephaly |
OMIM:236500 |
Rhyns Syndrome |
|
Multicystic kidney dysplasia, Nephronophthisis |
ORPHA:140976 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Double outlet right ventricle, Micropenis, Renal agenesis, Pulmonary artery hypoplasia, Anomalous... |
ORPHA:2326 |
Feingold Syndrome Type 1 |
|
Tricuspid atresia, Nephritis, Tricuspid stenosis, Abnormality of the kidney, Renal dysplasia, Hor... |
ORPHA:391641 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Coarctation of aorta,... |
ORPHA:371428 |
Trisomy 13 |
|
Atrial septal defect, Abnormality of the ureter, Multiple renal cysts, Ventricular septal defect,... |
ORPHA:3378 |
Meckel Syndrome, Type 7 |
|
Atrial septal defect, Aortic valve stenosis, Right ventricular hypertrophy, Multicystic kidney dy... |
OMIM:267010 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal tubular acidosis, Renal dysplasia, Renal cyst, Renal hypoplasia, Renal insufficiency, Cardi... |
OMIM:614922 |
Trisomy 1Q |
|
Hydrocephalus, Congenital megaureter, Multicystic kidney dysplasia, Ventricular septal defect, Pa... |
ORPHA:261344 |
Meckel Syndrome, Type 10 |
|
Micropenis, Hypospadias, Anencephaly, Renal cyst, Occipital encephalocele |
OMIM:614175 |
Meacham Syndrome |
|
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... |
OMIM:608978 |
Joubert Syndrome 7 |
|
Renal cyst, Encephalocele, Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:611560 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Hydrocephalus, Ureteral triplication, Mitral valve prolapse, Patent ductus arteriosus, Hydronephr... |
OMIM:104350 |
Xanthinuria, Type I |
|
Xanthine nephrolithiasis, Pyelonephritis, Xanthinuria, Hydronephrosis |
OMIM:278300 |
X-Linked Intellectual Disability, Schimke Type |
|
Vesicoureteral reflux, Hydronephrosis |
ORPHA:85285 |
Atrial Septal Defect 1 |
|
Bicuspid aortic valve, Aortic valve stenosis, Secundum atrial septal defect, Atrial septal defect... |
OMIM:108800 |
Joubert Syndrome 35 |
|
Multicystic kidney dysplasia, Renal fibrosis, Recurrent urinary tract infections, Hydronephrosis |
OMIM:618161 |
Halperin-Birk Syndrome |
|
Perimembranous ventricular septal defect, Umbilical hernia, Semilobar holoprosencephaly |
OMIM:618651 |
Criss-Cross Heart |
|
Mitral stenosis, Abnormal mitral valve morphology, Pulmonic stenosis, Tricuspid stenosis, Ventric... |
ORPHA:1461 |
Trisomy 17P |
|
Hydrocephalus, Aortic valve stenosis, Hypoplasia of penis, Hypoplastic left heart, Polycystic kid... |
ORPHA:261290 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Hypospadias, Hypoplasia of penis, Tetralogy of Fallot |
ORPHA:1381 |
Bardet-Biedl Syndrome 17 |
|
Micropenis, Polyuria, Situs inversus totalis, Dextrocardia, Renal cyst, Stage 5 chronic kidney di... |
OMIM:615994 |
Leigh Syndrome With Nephrotic Syndrome |
|
Nephrotic syndrome, Renal tubular acidosis, Renal cyst, Tubulointerstitial nephritis, Cardiomegal... |
ORPHA:255249 |
Bor Syndrome |
|
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Ureteropelvic junction obstruction, Renal... |
ORPHA:107 |
Igg4-Related Aortitis |
|
Abnormal common carotid artery morphology, Thoracic aortic aneurysm, Abnormal aortic arch morphol... |
ORPHA:449400 |
Meckel Syndrome, Type 2 |
|
Renal cyst, Encephalocele, Anencephaly, Meningocele |
OMIM:603194 |
Pentalogy Of Cantrell |
|
Hydrocephalus, Atrial septal defect, Abnormal pericardium morphology, Renal agenesis, Hypospadias... |
ORPHA:1335 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Pulmonic stenosis, Double aortic arch, Tetralogy of Fallot, Pulmo... |
OMIM:618780 |
Myopathy, Congenital, Progressive, With Scoliosis |
|
Renal atrophy, Hydronephrosis |
OMIM:618578 |
Trisomy X |
|
Renal hypoplasia/aplasia, Multicystic kidney dysplasia |
ORPHA:3375 |
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:3270 |
Aortic Arch Interruption |
|
Double outlet right ventricle, Abnormal ascending aorta morphology, Bicuspid aortic valve, Aortic... |
ORPHA:2299 |
Williams-Beuren Region Duplication Syndrome |
|
Unilateral renal agenesis, Hydrocephalus, Patent ductus arteriosus, Hydronephrosis |
OMIM:609757 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Hypospadias, Left ventricular hypertrophy, Renal insufficiency, Hydronephrosis |
OMIM:611209 |
Mosaic Trisomy 9 |
|
Atrial septal defect, Hypoplasia of penis, Multiple renal cysts, Endocardial fibroelastosis, Vent... |
ORPHA:99776 |
Thoracoabdominal Syndrome |
|
Hydrocephalus, Renal agenesis, Hypospadias, Anencephaly, Ectopia cordis, Patent ductus arteriosus... |
OMIM:313850 |
Nephrotic Syndrome, Type 11 |
|
Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, IgA deposition in the glo... |
OMIM:616730 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n... |
OMIM:602088 |
Suleiman-El-Hattab Syndrome |
|
Ventricular septal defect, Atrial septal defect, Patent foramen ovale, Hydronephrosis |
OMIM:618950 |
Joubert Syndrome 39 |
|
Polycystic kidney dysplasia, Occipital encephalocele, Hypoplastic left heart |
OMIM:619562 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Patent ductus arteriosus, Hydronephrosis |
OMIM:619797 |
Hypoplastic Left Heart Syndrome 2 |
|
Ventricular septal defect, Hypoplastic left heart, Aortic valve atresia, Mitral atresia |
OMIM:614435 |
9Q21.13 Microdeletion Syndrome |
|
Hydronephrosis, Abnormal heart morphology |
ORPHA:531151 |
Coach Syndrome 1 |
|
Nephronophthisis, Unilateral renal agenesis, Renal cyst, Vascular dilatation, Multiple small medu... |
OMIM:216360 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Absence of renal corticomedullary differentiation, Tubulointerstitial fibrosis, Enlarged kidney, ... |
OMIM:263200 |
Carpenter Syndrome 1 |
|
Atrial septal defect, Pulmonic stenosis, Hydroureter, Spina bifida occulta, Tetralogy of Fallot, ... |
OMIM:201000 |
Joubert Syndrome 20 |
|
Renal cyst |
OMIM:614970 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Abnormal cardiac septum morphology, Coarctation of aorta, Renal cyst, Renal hypoplasia, Patent du... |
OMIM:618454 |
Wolfram Syndrome 1 |
|
Hydroureter, Neurogenic bladder, Cardiomyopathy, Hydronephrosis, Stroke-like episode |
OMIM:222300 |
Diabetes Insipidus, Neurohypophyseal, X-Linked |
|
Polyuria, Hydronephrosis |
OMIM:304900 |
Wolfram Syndrome, Mitochondrial Form |
|
Hydroureter, Hydronephrosis |
OMIM:598500 |
Hereditary Xanthinuria |
|
Crystalluria, Recurrent urinary tract infections, Xanthinuria, Hematuria, Acute kidney injury, Hy... |
ORPHA:3467 |
Noonan Syndrome 4 |
|
Atrial septal defect, Pulmonic stenosis, Ureteral duplication, Ventricular septal defect, Hydrone... |
OMIM:610733 |
Marden-Walker Syndrome |
|
Hydrocephalus, Renal hypoplasia/aplasia, Abnormality of the urinary system, Abnormal penis morpho... |
ORPHA:2461 |
Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Renal cyst, Multiple renal cysts |
OMIM:614883 |
Cardiac Diverticulum |
|
Tricuspid atresia, Tricuspid stenosis, Ventricular septal defect, Umbilical hernia, Abnormal hear... |
ORPHA:1686 |
Serkal Syndrome |
|
Pulmonic stenosis, Abnormal penis morphology, Hypospadias, Renal agenesis, Hypoplasia of the blad... |
ORPHA:139466 |
Aminopterin/Methotrexate Embryofetopathy |
|
Hydrocephalus, Holoprosencephaly, Anencephaly, Tetralogy of Fallot, Pulmonary artery atresia, Ven... |
ORPHA:1908 |
Kleefstra Syndrome |
|
Bicuspid aortic valve, Hypoplasia of penis, Micropenis, Hypospadias, Coarctation of aorta, Tetral... |
ORPHA:261494 |
X-Linked Intellectual Disability, Nascimento Type |
|
Mitral stenosis, Double outlet right ventricle, Peripheral pulmonary artery stenosis, Micropenis,... |
ORPHA:163956 |
Ogden Syndrome |
|
Bicuspid aortic valve, Global glomerulosclerosis, Secundum atrial septal defect, Atrial septal de... |
OMIM:300855 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Atrioventricular canal defect, Ventricular septal defect, Pulmonary valve atresia, Parachute mitr... |
OMIM:265380 |
Intellectual Disability, Buenos-Aires Type |
|
Abnormal cardiac septum morphology, Hydronephrosis, Umbilical hernia |
ORPHA:3079 |
Braddock-Carey Syndrome 1 |
|
Ventricular septal defect, Multicystic kidney dysplasia, Aortic valve prolapse |
OMIM:619980 |
Congenital Disorder Of Glycosylation, Type Il |
|
Abnormal cardiac septum morphology, Polycystic kidney dysplasia, Pericardial effusion |
OMIM:608776 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Micropenis, Hypospadias, Ventricular septal defect, Hydronephrosis, Hypertrophic cardiomyopathy, ... |
OMIM:616897 |
Thauvin-Robinet-Faivre Syndrome |
|
Nephroblastoma, Bifid ureter, Ventricular septal defect, Mitral valve prolapse, Renal cyst, Renal... |
OMIM:617107 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Hydronephrosis |
ORPHA:457193 |
Wolcott-Rallison Syndrome |
|
Double outlet right ventricle, Chronic kidney disease, Atrial septal defect, Renal insufficiency |
ORPHA:1667 |
Rubinstein-Taybi Syndrome 1 |
|
Vascular ring, Atrial septal defect, Hypoplastic left heart, Hypospadias, Coarctation of aorta, S... |
OMIM:180849 |
Say Syndrome |
|
Proximal renal tubular acidosis, Cystic renal dysplasia |
OMIM:181180 |
Genitopalatocardiac Syndrome |
|
Abnormal cardiac septum morphology, Hydrocephalus, Multicystic kidney dysplasia, Hypospadias |
ORPHA:2075 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Nephrolithiasis, Nephroblastoma, Renal cortical adenoma, Papillary renal cell carcinoma, Polycyst... |
OMIM:145001 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Partia... |
OMIM:619343 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Atrial septal defect, Thyroid lymphangiectasia, Pleural lymphangiectasia, Spina bifida occulta, V... |
OMIM:235510 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Hydronephrosis, Spina bifida occulta |
OMIM:618060 |
Meckel Syndrome, Type 6 |
|
Aplasia of the bladder, Hydrocephalus, Anencephaly, Hepatic cysts, Renal cyst, Horseshoe kidney, ... |
OMIM:612284 |
Penile Agenesis |
|
Urethral atresia, male, Atrial septal defect, Urethral fistula, Bilateral renal hypoplasia, Hydro... |
ORPHA:49 |
Joubert Syndrome 14 |
|
Renal cyst, Hydrocephalus, Encephalocele |
OMIM:614424 |
Cardioacrofacial Dysplasia 1 |
|
Complete atrioventricular canal defect, Atrioventricular canal defect |
OMIM:619142 |
Axial Mesodermal Dysplasia Spectrum |
|
Hydrocephalus, Renal hypoplasia/aplasia, Abnormality of the ureter, Abnormality of the urinary sy... |
ORPHA:1834 |
Birt-Hogg-Dube Syndrome |
|
Renal cell carcinoma, Renal cyst, Renal neoplasm |
OMIM:135150 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Vesicoureteral reflux, Hydronephrosis |
OMIM:618265 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Restrictive cardiomyopathy, Ureteral stenosis, Hypercalciuria, Renal cyst, Patent ductus arterios... |
OMIM:615398 |
Facial Dysmorphism With Multiple Malformations |
|
Hydrocephalus, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arterie... |
OMIM:227255 |
Kury-Isidor Syndrome |
|
Ventricular septal defect, Hydronephrosis |
OMIM:619762 |
Down Syndrome |
|
Double outlet right ventricle, Atrial septal defect, Atrioventricular canal defect, Tetralogy of ... |
OMIM:190685 |
Renal Coloboma Syndrome |
|
Multicystic kidney dysplasia, Renal dysplasia, Renal hypoplasia, Renal insufficiency, Vesicourete... |
ORPHA:1475 |
Holoprosencephaly 14 |
|
Double outlet right ventricle, Hydrocephalus, Alobar holoprosencephaly, Aqueductal stenosis, Aort... |
OMIM:619895 |
Cerebrocostomandibular Syndrome |
|
Myelomeningocele, Multicystic kidney dysplasia, Hydranencephaly, Ventricular septal defect, Menin... |
ORPHA:1393 |
Meckel Syndrome, Type 3 |
|
Hydrocephalus, Multicystic kidney dysplasia, Occipital encephalocele |
OMIM:607361 |
Duane-Radial Ray Syndrome |
|
Atrial septal defect, Renal agenesis, Crossed fused renal ectopia, Spina bifida occulta, Ventricu... |
OMIM:607323 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Ventricular septal defect, Abnormal vena cava morphology, Renal cyst, Horseshoe kidney |
ORPHA:166035 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Unilateral renal agenesis, Renal dysplasia, Polycystic kidney dysplasia, Renal insufficiency, Hyd... |
ORPHA:2237 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Atrial septal defect, Hypoplastic left heart, Abnormal descending aorta morphology, Anomalous ori... |
ORPHA:99050 |
Zaki Syndrome |
|
Renal agenesis, Patent ductus arteriosus, Patent foramen ovale, Hydronephrosis |
OMIM:619648 |
Vater/Vacterl Association |
|
Renal agenesis, Hypospadias, Tetralogy of Fallot, Renal dysplasia, Ventricular septal defect, Ure... |
OMIM:192350 |
Truncus Arteriosus |
|
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, In... |
ORPHA:3384 |
Endove Syndrome, Limb-Brain Type |
|
Hydronephrosis, Recurrent urinary tract infections, Neurogenic bladder, Umbilical hernia |
OMIM:619218 |
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome |
|
Urogenital sinus anomaly, Renal hypoplasia/aplasia, Hydroureter, Multicystic kidney dysplasia, Ab... |
ORPHA:2973 |
Fryns Syndrome |
|
Abnormal cardiac septum morphology, Hypospadias, Multicystic kidney dysplasia, Tetralogy of Fallo... |
ORPHA:2059 |
15Q11.2 Microdeletion Syndrome |
|
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Total... |
ORPHA:261183 |
Microgastria-Limb Reduction Defects Association |
|
Type I truncus arteriosus, Secundum atrial septal defect, Unilateral renal agenesis, Cystic renal... |
OMIM:156810 |
Atresia Of Urethra |
|
Hydroureter, Recurrent urinary tract infections, Bladder fistula, Renal dysplasia, Renal insuffic... |
ORPHA:105 |
Diamond-Blackfan Anemia 6 |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Mitral valve prolapse, Pate... |
OMIM:612561 |
Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Multicystic kidney dysplasia, Micropenis |
OMIM:300209 |
Holoprosencephaly 13, X-Linked |
|
Double outlet right ventricle, Alobar holoprosencephaly, Hypoplastic left heart, Ventricular sept... |
OMIM:301043 |
Tarp Syndrome |
|
Hydronephrosis, Horseshoe kidney, Tetralogy of Fallot |
OMIM:311900 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hydrocephalus, Myoglobinuria, Cystic renal dysplasia, Red-brown urine, Dicarboxylic aciduria, Tub... |
ORPHA:228308 |
Axial Osteomalacia |
|
Renal cyst |
OMIM:109130 |
Tetraamelia Syndrome 2 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Micropenis |
OMIM:618021 |
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Renal angiomyolipoma, Polycystic kidney dysplasia |
OMIM:600273 |
Johanson-Blizzard Syndrome |
|
Abnormal cardiac septum morphology, Hypoplasia of penis, Hypospadias, Dextrocardia, Hydronephrosis |
ORPHA:2315 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Atrial septal defect, Aortic valve stenosis, Enlarged kidney, Situs inversus totalis, Hepatic cys... |
OMIM:208540 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Patent ductus arteriosus, Hydronephrosis |
OMIM:300048 |
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Atrial septal defect, Renal agenesis, Cystic r... |
OMIM:220500 |
Distal Trisomy 6P |
|
Abnormality of the urinary system, Renal hypoplasia, Hydronephrosis |
ORPHA:1745 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Neoplasm of the heart, Hydroureter, Multicystic kidney dysplasia, Umbilical hernia, Megacystis |
ORPHA:2241 |
Papillorenal Syndrome |
|
Nephrolithiasis, Chronic kidney disease, Absence of renal corticomedullary differentiation, Multi... |
OMIM:120330 |
Endove Syndrome, Limb-Only Type |
|
Hydronephrosis, Vesicoureteral reflux, Umbilical hernia |
OMIM:619217 |
Zellweger Syndrome |
|
Ventricular septal defect, Hypospadias, Multicystic kidney dysplasia, Hydronephrosis |
ORPHA:912 |
Tetraploidy |
|
Renal hypoplasia/aplasia, Hydronephrosis |
ORPHA:3305 |
Desmoid Tumor |
|
Abnormality of the upper urinary tract, Hydronephrosis |
ORPHA:873 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hydrocephalus, Myoglobinuria, Cystic renal dysplasia, Red-brown urine, Tubulointerstitial nephrit... |
ORPHA:157 |
Distal Monosomy 15Q |
|
Mitral stenosis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Double outlet right v... |
ORPHA:1596 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Long-chain dicarboxylic aciduria, Ureteral duplication, Enlarged kidney, Renal dysplasia, Polycys... |
OMIM:608836 |
Giant Cell Arteritis |
|
Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary steno... |
ORPHA:397 |
3-Methylglutaconic Aciduria Type 7 |
|
Renal cyst, 3-Methylglutaconic aciduria, Renal insufficiency, Nephrocalcinosis, Cardiomyopathy |
ORPHA:445038 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome |
|
Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Ventricular septal defect, Ureteropelv... |
OMIM:280000 |
Nephronophthisis 1 |
|
Renal tubular atrophy, Nephronophthisis, Polyuria, Hyposthenuria, Tubulointerstitial fibrosis, Tu... |
OMIM:256100 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Micropenis, Pulmonary lymphangiectasia, Ventricular septal defect, Pancreatic lymphangiectasis, H... |
OMIM:235255 |
Koolen-De Vries Syndrome |
|
Abnormal cardiac septum morphology, Bicuspid aortic valve, Hypospadias, Ureteral duplication, Ren... |
ORPHA:96169 |
Pallister-Hall Syndrome |
|
Distal urethral duplication, Micropenis, Holoprosencephaly, Hydroureter, Renal dysplasia, Ventric... |
OMIM:146510 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Peripheral arterial stenosis, Patent ductus arteriosus, Varicose veins |
OMIM:126320 |
Melnick-Needles Syndrome |
|
Abnormal cardiac septum morphology, Vesicoureteral reflux, Hydronephrosis |
ORPHA:2484 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Renal cyst, Multicystic kidney dysplasia, Meningocele |
ORPHA:2031 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Bladder diverticulum, Vascular dilatation, Patent foramen ovale, Hydronephrosis, Umbilical hernia... |
OMIM:613177 |
8P Inverted Duplication/Deletion Syndrome |
|
Micropenis, Abnormality of the urinary system, Tetralogy of Fallot, Dextrocardia, Hydronephrosis,... |
ORPHA:96092 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Coarctation of aorta, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, ... |
OMIM:610338 |
Pagod Syndrome |
|
Renal hypoplasia/aplasia, Hypoplastic left heart, Multicystic kidney dysplasia, Situs inversus to... |
ORPHA:991 |
Nephronophthisis 4 |
|
Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal corticomedu... |
OMIM:606966 |
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects |
|
Atrial septal defect, Atrioventricular canal defect, Tetralogy of Fallot, Ventricular septal defe... |
OMIM:600123 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Patent foramen ovale, Hydronephrosis |
OMIM:619179 |
Bardet-Biedl Syndrome 6 |
|
Hypospadias, Renal cyst |
OMIM:605231 |
Isotretinoin Embryopathy-Like Syndrome |
|
Hydrocephalus, Conotruncal defect |
OMIM:243440 |
Khan-Khan-Katsanis Syndrome |
|
Renal hypoplasia, Patent ductus arteriosus, Patent foramen ovale, Hydronephrosis, Vesicoureteral ... |
OMIM:618460 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Polycystic kidney dysplasia, Abnormal heart morphology |
OMIM:263210 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Hydronephrosis |
OMIM:602418 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Double outlet right ventricle, Cardiac total anomalous pulmonary venous connection, Atrial septal... |
ORPHA:99125 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Double outlet right ventricle, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect |
OMIM:618223 |
Nephronophthisis 3 |
|
Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal insufficien... |
OMIM:604387 |
Meier-Gorlin Syndrome 7 |
|
Atrial septal defect, Micropenis, Hypospadias, Urethral stricture, Ventricular septal defect, Com... |
OMIM:617063 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Renal cortical microcysts, Renal cyst, Abnormal heart morphology |
OMIM:614866 |
Focal Dermal Hypoplasia |
|
Abnormal cardiac septum morphology, Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Ventr... |
ORPHA:2092 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Ventricular septal defect, Renal cyst, Horseshoe kidney |
OMIM:250410 |
3Mc Syndrome 1 |
|
Atrial septal defect, Spina bifida occulta, Ventricular septal defect, Patent ductus arteriosus, ... |
OMIM:257920 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Abnormality of bladder morphology, Bicuspid aortic valve, Atrial septal defect, Atrioventricular ... |
ORPHA:453499 |
Otopalatodigital Syndrome Type 2 |
|
Myelomeningocele, Abnormal cardiac septum morphology, Hydrocephalus, Hypospadias, Ureteral obstru... |
ORPHA:90652 |
Genitopatellar Syndrome |
|
Multicystic kidney dysplasia, Atrial septal defect, Hydronephrosis |
ORPHA:85201 |
1Q21.1 Microdeletion Syndrome |
|
Abnormal cardiac septum morphology, Hydrocephalus, Patent ductus arteriosus, Hydronephrosis, Inte... |
ORPHA:250989 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hydrocephalus, Atrial septal defect, Micropenis, Hypospadias, Intracranial hemorrhage, Ventricula... |
ORPHA:163979 |
Isotretinoin-Like Syndrome |
|
Hydrocephalus, Abnormal cardiac ventricle morphology, Bicuspid aortic valve, Aortic valve stenosi... |
ORPHA:2306 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Mitral stenosis, Coarctation of aorta, Renal dysplasia, Renal cyst, Patent ductus arteriosus |
OMIM:617260 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Perimembranous ventricular septal defect, Hydronephrosis, Micropenis |
ORPHA:83617 |
Nabais Sa-De Vries Syndrome, Type 2 |
|
Multicystic kidney dysplasia, Hypoplastic left heart |
OMIM:618829 |
Mosaic Trisomy 1 |
|
Renal cortical cysts, Micropenis, Coarctation of aorta, Pulmonary artery atresia, Ventricular sep... |
ORPHA:1692 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Nephrolithiasis, Left ventricular hypertrophy, Ventricular septal defect, Biventricular hypertrop... |
OMIM:615474 |
Congenital Disorder Of Glycosylation, Type It |
|
Coarctation of aorta, Ventricular septal defect, Dilated cardiomyopathy, Hydronephrosis, Cardiome... |
OMIM:614921 |
Renal Agenesis |
|
Unilateral renal agenesis, Renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral renal age... |
ORPHA:411709 |
Pericardial And Diaphragmatic Defect |
|
Mitral stenosis, Bicuspid aortic valve, Atrial septal defect, Partial diaphragmatic absence of pe... |
ORPHA:2847 |
Cystic Echinococcosis |
|
Ovarian cyst, Membranous nephropathy, Hepatic cysts, Renal cyst, Abnormal heart morphology |
ORPHA:400 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Atrial septal defect, Multicystic kidney dysplasia, Abnormal aortic valve morphology, Dextrocardi... |
ORPHA:261197 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Renal hypoplasia, Vesicoureteral reflux, Hydronephrosis |
OMIM:613735 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Lymphangiectasis, Renal cyst, Proximal tubulopathy |
OMIM:602579 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Ureteral hypoplasia, Atrial septal defect, Bladder trabeculation, Ureteral duplication, Renal dys... |
OMIM:614080 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Ventricular septal defect, Hydronephrosis, Micropenis |
OMIM:617798 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Micropenis, Pulmonary lymphangiectasia, Abnormal renal morphology, Ventricular septal defect, Pan... |
ORPHA:1655 |
Teebi-Shaltout Syndrome |
|
Aortic valve stenosis, Ureteral stenosis, Ventricular septal defect, Horseshoe kidney, Hydronephr... |
OMIM:272950 |
Joubert Syndrome 37 |
|
Hydronephrosis, Micropenis |
OMIM:619185 |
Takenouchi-Kosaki Syndrome |
|
Abnormal cardiac septum morphology, Pulmonic stenosis, Unilateral renal agenesis, Hypospadias, Pa... |
OMIM:616737 |
Koolen-De Vries Syndrome |
|
Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, Recurrent urinary tract infection... |
OMIM:610443 |
Opitz Gbbb Syndrome |
|
Atrial septal defect, Hypospadias, Abnormality of the urinary system, Coarctation of aorta, Ventr... |
ORPHA:2745 |
Craniofacioskeletal Syndrome |
|
Atrial septal defect, Hypospadias, Ventricular septal defect, Patent ductus arteriosus, Hydroneph... |
OMIM:300712 |
Cardiac-Urogenital Syndrome |
|
Atrial septal defect, Hypoplastic left heart, Scimitar anomaly, Micropenis, Tetralogy of Fallot, ... |
OMIM:618280 |
8P23.1 Microdeletion Syndrome |
|
Abnormal cardiac septum morphology, Hypoplastic left heart, Atrioventricular canal defect, Hyposp... |
ORPHA:251071 |
Campomelia, Cumming Type |
|
Polycystic kidney dysplasia, Pancreatic cysts |
OMIM:211890 |
Trisomy 18 |
|
Atrial septal defect, Holoprosencephaly, Abnormality of the upper urinary tract, Anencephaly, Ven... |
ORPHA:3380 |
Trisomy 20P |
|
Hypospadias, Abnormality of the ureter, Abnormality of the kidney, Multiple renal cysts, Abnormal... |
ORPHA:261318 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic valve stenosis, Micropenis, Unilateral renal agenesis, Hypospadias, Ventricular septal def... |
ORPHA:464311 |
Diamond-Blackfan Anemia 7 |
|
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Horseshoe kidney, ... |
OMIM:612562 |
Femoral-Facial Syndrome |
|
Renal hypoplasia/aplasia, Polycystic kidney dysplasia, Abnormal localization of kidney, Long penis |
ORPHA:1988 |
Trisomy 8P |
|
Hydrocephalus, Peripheral pulmonary artery stenosis, Micropenis, Abnormal left ventricle morpholo... |
ORPHA:264450 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Hypoplasia of penis, Hydronephrosis |
ORPHA:2083 |
Charge Syndrome |
|
Double outlet right ventricle, Secundum atrial septal defect, Atrial septal defect, Holoprosencep... |
OMIM:214800 |
Toluene Embryopathy |
|
Abnormal localization of kidney, Hydronephrosis |
ORPHA:1920 |
Chime Syndrome |
|
Pulmonary valve atresia, Abnormality of the kidney, Tetralogy of Fallot, Ventricular septal defec... |
ORPHA:3474 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Megacystis, Hydroureter, Hydronephrosis, Fetal megacystis |
OMIM:619362 |
Branchiootorenal Syndrome 1 |
|
Unilateral renal agenesis, Abnormal renal collecting system morphology, Branchial fistula, Renal ... |
OMIM:113650 |
Mesomelia-Synostoses Syndrome |
|
Hydronephrosis, Umbilical hernia |
ORPHA:2496 |
Baller-Gerold Syndrome |
|
Abnormal cardiac septum morphology, Abnormality of the ureter, Abnormal localization of kidney, H... |
ORPHA:1225 |
Kapur-Toriello Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplasia of penis, Tetralogy of Fallot |
ORPHA:2328 |
Renal Cysts And Diabetes Syndrome |
|
Nephrolithiasis, Unilateral renal agenesis, Hypospadias, Abnormality of the kidney, Glycosuria, A... |
OMIM:137920 |
Meckel Syndrome 14 |
|
Single ventricle, Polycystic kidney dysplasia, Occipital encephalocele, Holoprosencephaly |
OMIM:619879 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Abnormal penis morphology, Hypospadias, Epispadias, Exencephaly |
ORPHA:2211 |
Pelvis-Shoulder Dysplasia |
|
Hydrocephalus, Spina bifida, Hydronephrosis, Hydranencephaly |
ORPHA:2839 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Aminoaciduria, Hypospadias, Ventricular septal defect, Patent ductus arteriosus, Hydronephrosis, ... |
OMIM:214100 |
Igg4-Related Retroperitoneal Fibrosis |
|
Dysuria, Nephrotic syndrome, Hematuria, Membranous nephropathy, Renovascular hypertension, Ureter... |
ORPHA:49041 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Decreased glomerular filtration rate, Impaired renal uric acid clearance, ... |
OMIM:174000 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Nephrolithiasis, Functional abnormality of the bladder, Horseshoe kidney, Hydronephrosis, Abnorma... |
ORPHA:2953 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Nephroblastoma, Abnormal right ventricle morphology, Spina bifida o... |
ORPHA:500095 |
Frank-Ter Haar Syndrome |
|
Double outlet right ventricle, Atrial septal defect, Secundum atrial septal defect, Ventricular s... |
OMIM:249420 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Aplasia of the bladder, Ureterocele, Urethral stricture, Hematuria, Renal duplication, Renal dysp... |
ORPHA:79403 |
Kabuki Syndrome |
|
Abnormal cardiac septum morphology, Hydrocephalus, Renal hypoplasia/aplasia, Hypoplasia of penis,... |
ORPHA:2322 |
Cerebellar-Facial-Dental Syndrome |
|
Ventricular septal defect, Mitral valve prolapse, Ureteropelvic junction obstruction, Hydronephro... |
ORPHA:444072 |
7Q11.23 Microduplication Syndrome |
|
Hydrocephalus, Aortic valve stenosis, Atrial septal defect, Unilateral renal agenesis, Hypospadia... |
ORPHA:96121 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Cerebral cavernous malformation, Aortic root aneurysm, Secundum atrial septal defect, Transpositi... |
OMIM:619910 |
Robinow Syndrome |
|
Tricuspid atresia, Pulmonary valve atresia, Atrial septal defect, Micropenis, Pulmonic stenosis, ... |
ORPHA:97360 |
Igg4-Related Kidney Disease |
|
Chronic kidney disease, Abnormal ureter morphology, Nephrotic range proteinuria, Arteritis, Ureth... |
ORPHA:449395 |
Netherton Syndrome |
|
Ectopic kidney, Hydronephrosis, Aminoaciduria |
ORPHA:634 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Atrial septal defect, Congenital megaureter, Restrictive cardiomyopathy, Abnormality of the urina... |
ORPHA:369837 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Aortic valve stenosis, Micropenis, Unilateral renal agenesis, Hypospadias, Ventricular septal def... |
ORPHA:464306 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Megacystis, Hydroureter, Hydronephrosis |
OMIM:619431 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Ethylmalonic aciduria, 3-Methylglutaric aciduria, Polycystic kidney dysplasia, Glutaric aciduria,... |
ORPHA:26791 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Neurogenic bladder, Hydronephrosis, Abnormal heart morphology |
OMIM:608779 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Renal hypoplasia, Aminoaciduria, Hydronephrosis |
OMIM:617913 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Atrial septal defect, Male urethral meatus stenosis, Hypospadias, Left superior vena cava drainin... |
ORPHA:464738 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Secundum atrial septal defect, Pulmonic stenosis, Recurrent urinary tract infections, Urachus fis... |
OMIM:612541 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Patent ductus arteriosus, Atrial septal defect, Hydronephrosis, Renal dysplasia |
OMIM:300968 |
Syndromic Diarrhea |
|
Bicuspid aortic valve, Peripheral pulmonary artery stenosis, Atrial septal defect, Tetralogy of F... |
ORPHA:84064 |
Microgastria-Limb Reduction Defect Syndrome |
|
Renal hypoplasia/aplasia, Atrial septal defect, Renal agenesis, Multicystic kidney dysplasia, Cro... |
ORPHA:2538 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Micropenis, Hypospadias, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Pa... |
OMIM:600460 |
Autosomal Recessive Robinow Syndrome |
|
Abnormal pulmonary valve morphology, Atrial septal defect, Hypoplasia of penis, Multicystic kidne... |
ORPHA:1507 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Polycystic kidney dysplasia, Aminoaciduria, Abnormal heart morphology |
OMIM:214110 |
Hardikar Syndrome |
|
Atrial septal defect, Hydroureter, Recurrent urinary tract infections, Hypoplasia of the bladder,... |
OMIM:301068 |
Floating-Harbor Syndrome |
|
Epididymal cyst, Atrial septal defect, Renal agenesis, Hypospadias, Coarctation of aorta, Tetralo... |
ORPHA:2044 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Nephrotic syndrome, Stroke-like episode, Renal cyst, Cardiomyopathy, Proteinuria, Proximal tubulo... |
OMIM:212065 |
Microphthalmia, Syndromic 2 |
|
Double outlet right ventricle, Atrial septal defect, Aortic valve stenosis, Pulmonic stenosis, Hy... |
OMIM:300166 |
Alg9-Cdg |
|
Ureteral hypoplasia, Atrial septal defect, Hypoplasia of the bladder, Enlarged kidney, Ventricula... |
ORPHA:79328 |
Hydrolethalus Syndrome 1 |
|
Hypospadias, Anencephaly, Severe hydrocephalus, Arrhinencephaly, Ventricular septal defect, Compl... |
OMIM:236680 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hypospadias, Renal cyst, Polycystic kidney dysplasia, Renal hypoplasia |
OMIM:614091 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Hypoplastic tricuspid valve, Atrial septal defect, Pulmonic stenosis, Ureteral duplication, Tetra... |
ORPHA:2255 |
Short-Rib Thoracic Dysplasia 12 |
|
Hydrocephalus, Holoprosencephaly, Anencephaly, Cystic renal dysplasia, Ventricular septal defect,... |
OMIM:269860 |
Cardiofaciocutaneous Syndrome |
|
Hydrocephalus, Atrial septal defect, Pulmonic stenosis, Hydronephrosis, Abnormal heart valve morp... |
ORPHA:1340 |
Branchio-Oculo-Facial Syndrome |
|
Renal agenesis, Multicystic kidney dysplasia, Hydronephrosis |
ORPHA:1297 |
Tarp Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Horseshoe kidney, Hydronephrosis, Persistent left supe... |
ORPHA:2886 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Aplasia of the bladder, Ureterocele, Abnormality of the urinary system, Abnormality of the urethr... |
ORPHA:158684 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Renal cortical cysts, Glycosuria, Generalized aminoaciduria, Polycystic kidney dysplasia, Glutari... |
OMIM:231680 |
Tuberous Sclerosis 1 |
|
Renal angiomyolipoma, Renal cyst, Renal cell carcinoma, Cardiac rhabdomyoma, Pulmonary lymphangio... |
OMIM:191100 |
Tuberous Sclerosis Complex |
|
Chronic kidney disease, Renal angiomyolipoma, Abnormality of the kidney, Noncommunicating hydroce... |
ORPHA:805 |
Senior-Loken Syndrome 3 |
|
Nephronophthisis, Polyuria, Renal corticomedullary cysts, Enuresis, Stage 5 chronic kidney disease |
OMIM:606995 |
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome |
|
Hydronephrosis |
ORPHA:488613 |
Webb-Dattani Syndrome |
|
Vesicoureteral reflux, Neurogenic bladder, Hydronephrosis |
OMIM:615926 |
Viss Syndrome |
|
Tortuous cerebral arteries, Aortic tortuosity, Pulmonary artery aneurysm, Ventricular septal defe... |
OMIM:619472 |
Frontometaphyseal Dysplasia 1 |
|
Mitral valve prolapse, Hydroureter, Cor pulmonale, Hydronephrosis |
OMIM:305620 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Dysuria, Ureterocele, Hydroureter, Ureteral obstruction, Urethral stricture, Multicystic kidney d... |
ORPHA:79404 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Abnormal cardiac septum morphology, Aortic valve stenosis, Hypoplasia of penis, Coarctation of ao... |
ORPHA:96147 |
Cardiofaciocutaneous Syndrome 1 |
|
Hydrocephalus, Atrial septal defect, Pulmonic stenosis, Hydronephrosis, Hypertrophic cardiomyopathy |
OMIM:115150 |
Kawasaki Disease |
|
Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary steno... |
ORPHA:2331 |
Histiocytoid Cardiomyopathy |
|
Hydrocephalus, Ventricular septal defect, Renal cyst, Polycystic ovaries, Stroke-like episode, Ca... |
ORPHA:137675 |
Complete Atrioventricular Septal Defect |
|
Primum atrial septal defect, Right ventricular hypertrophy, Displacement of the papillary muscles... |
ORPHA:1329 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Hydronephrosis, Micropenis |
ORPHA:364028 |
Cerebrocostomandibular Syndrome |
|
Atrial septal defect, Ventricular septal defect, Renal cyst, Horseshoe kidney, Ectopic kidney, Pa... |
OMIM:117650 |
Erdheim-Chester Disease |
|
Dysuria, Abnormal pericardium morphology, Abnormal aortic valve morphology, Renal insufficiency, ... |
ORPHA:35687 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Renal cyst |
OMIM:614862 |
Acrocardiofacial Syndrome |
|
Mitral stenosis, Atrial septal defect, Hypoplasia of penis, Hypospadias, Coarctation of aorta, Te... |
ORPHA:2008 |
Jacobsen Syndrome |
|
Aortic valve stenosis, Hypoplastic left heart, Multicystic kidney dysplasia, Coarctation of aorta... |
ORPHA:2308 |
Short Rib-Polydactyly Syndrome |
|
Urogenital sinus anomaly, Nephronophthisis, Hypospadias, Abnormality of the kidney, Hepatic cysts... |
ORPHA:1505 |
Phelan-Mcdermid Syndrome |
|
Abnormality of the kidney, Ventricular septal defect, Polycystic kidney dysplasia, Patent ductus ... |
OMIM:606232 |
Hajdu-Cheney Syndrome |
|
Abnormal cardiac septum morphology, Hydrocephalus, Hypospadias, Renal cyst, Patent ductus arterio... |
OMIM:102500 |
Chromosome 17Q12 Deletion Syndrome |
|
Unilateral renal agenesis, Ovarian cyst, Multicystic kidney dysplasia, Hypoplasia of the bladder,... |
OMIM:614527 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Abnormal cardiac septum morphology, Unilateral renal agenesis, Single ventricle, Hydronephrosis, ... |
OMIM:308050 |
Pfeiffer Syndrome Type 3 |
|
Vesicoureteral reflux, Horseshoe kidney, Aqueductal stenosis, Hydronephrosis |
ORPHA:93260 |
Tuberous Sclerosis 2 |
|
Absence of renal corticomedullary differentiation, Renal angiomyolipoma, Renal cyst, Renal cell c... |
OMIM:613254 |
Nephronophthisis-Like Nephropathy 1 |
|
Renal tubular atrophy, Nephronophthisis, Hyperechogenic kidneys, Tubular basement membrane disint... |
OMIM:613159 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Micropenis, Arteria lusoria, Patent foramen ovale, Hydronephrosis, Pelvic kidney, Vesicoureteral ... |
OMIM:618653 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Unilateral renal dysplasia, Peripheral pulmonary artery stenosis, Atrial septal defect, Congenita... |
ORPHA:280633 |
Joubert Syndrome 2 |
|
Hydrocephalus, Nephronophthisis, Renal cyst, Renal insufficiency, Encephalocele |
OMIM:608091 |
Cockayne Syndrome Type 3 |
|
Stroke, Premature coronary artery atherosclerosis, Subdural hemorrhage, Unilateral renal agenesis... |
ORPHA:90324 |
Arima Syndrome |
|
Occipital meningocele, Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Poly... |
OMIM:243910 |
Alagille Syndrome 1 |
|
Peripheral pulmonary artery stenosis, Renal tubular acidosis, Atrial septal defect, Stroke, Coarc... |
OMIM:118450 |
Alveolar Echinococcosis |
|
Abnormality of bladder morphology, Abnormal pericardium morphology, Hepatic cysts, Renal cyst, Pa... |
ORPHA:284 |
Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Epidural hemorrhage, Multiple renal cysts, Abnormal lymphatic vessel morphology... |
ORPHA:464329 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Hydronephrosis, Micropenis |
OMIM:612513 |
Oeis Complex |
|
Myelomeningocele, Hydrocephalus, Vesicovaginal fistula, Micropenis, Renal agenesis, Hydroureter, ... |
OMIM:258040 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Transposition of the great arteries, Patent foramen ovale |
OMIM:616789 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Hydrocephalus, Renal hypoplasia/aplasia, Atrial septal defect, Pulmonic stenosis, Abnormal renal ... |
ORPHA:363700 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Renal cyst, Encephalocele, Renal hypoplasia, Patent ductus arteriosus |
OMIM:616300 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hydrocephalus, Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, Hypospadias, Recur... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hydrocephalus, Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, Hypospadias, Recur... |
ORPHA:363958 |
Nephronophthisis 11 |
|
Renal tubular atrophy, Nephronophthisis, Polyuria, Tubular basement membrane disintegration, Rena... |
OMIM:613550 |
Joubert Syndrome 21 |
|
Renal cyst, Occipital encephalocele, Hyperechogenic kidneys |
OMIM:615636 |
Distal Renal Tubular Acidosis |
|
Nephrolithiasis, Aminoaciduria, Decreased glomerular filtration rate, Low-molecular-weight protei... |
ORPHA:18 |
Cousin Syndrome |
|
Hydrocephalus, Hydranencephaly, Hydronephrosis |
OMIM:260660 |
Odontochondrodysplasia 1 |
|
Polycystic kidney dysplasia, Nephronophthisis |
OMIM:184260 |
Apert Syndrome |
|
Ventricular septal defect, Hydrocephalus, Overriding aorta, Hydronephrosis |
OMIM:101200 |
Fryns Syndrome |
|
Atrial septal defect, Renal agenesis, Hypospadias, Ureteral duplication, Arrhinencephaly, Ventric... |
OMIM:229850 |
15Q Overgrowth Syndrome |
|
Hydrocephalus, Nephroblastoma, Abnormal renal morphology, Horseshoe kidney, Ureterovesical stenos... |
ORPHA:314585 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Complete atrioventricular canal defect, Urinary incontinence |
ORPHA:476126 |
Ileal Neuroendocrine Tumor |
|
Tricuspid stenosis, Pulmonic stenosis, Hydronephrosis |
ORPHA:100078 |
Jejunal Neuroendocrine Tumor |
|
Tricuspid stenosis, Pulmonic stenosis, Hydronephrosis |
ORPHA:100077 |
22Q11.2 Deletion Syndrome |
|
Tricuspid atresia, Hydrocephalus, Ventricular septal defect, Umbilical hernia, Tetralogy of Fallo... |
ORPHA:567 |
46,Xy Sex Reversal 4 |
|
Ureteropelvic junction obstruction, Hydronephrosis, Renal dysplasia |
OMIM:154230 |
Micro Syndrome |
|
Abnormal localization of kidney, Hypoplasia of penis, Hydronephrosis |
ORPHA:2510 |
Distal Monosomy 12Q |
|
Congenital hypertrophy of left ventricle, Micropenis, Polycystic kidney dysplasia, Patent ductus ... |
ORPHA:96149 |
Cornelia De Lange Syndrome 1 |
|
Reduced renal corticomedullary differentiation, Hypospadias, Abnormal renal morphology, Ventricul... |
OMIM:122470 |
Smith-Lemli-Opitz Syndrome |
|
Hydrocephalus, Atrial septal defect, Holoprosencephaly, Unilateral renal agenesis, Micropenis, Hy... |
OMIM:270400 |
Simpson-Golabi-Behmel Syndrome |
|
Atrial septal defect, Hypoplasia of penis, Hypospadias, Hydroureter, Multicystic kidney dysplasia... |
ORPHA:373 |
Bardet-Biedl Syndrome |
|
Nephrotic syndrome, Multicystic kidney dysplasia, Hypoplasia of penis |
ORPHA:110 |
Smith-Lemli-Opitz Syndrome |
|
Renal hypoplasia/aplasia, Atrial septal defect, Hypoplasia of penis, Atrioventricular canal defec... |
ORPHA:818 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Renal cyst |
ORPHA:79303 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Hydrocephalus, Polycystic kidney dysplasia, Hyperechogenic kidneys |
OMIM:617866 |
Lymphedema-Distichiasis Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Varicose veins |
OMIM:153400 |
Lymphangioleiomyomatosis |
|
Abnormal urinary color, Hydrocephalus, Chylopericardium, Renal neoplasm, Renal angiomyolipoma, He... |
ORPHA:538 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Myocardial fibrosis, Hydrocephalus, Atrial septal defect, Holoprosencephaly, Pulmonic stenosis, D... |
OMIM:253800 |
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Fetal megacystis, Multicystic kidney dysplasia |
ORPHA:73246 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Atrial septal defect, Aortic aneurysm, Ventricular septal defect, Hydronep... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Bicuspid aortic valve, Atrial septal defect, Aortic aneurysm, Ventricular septal defect, Hydronep... |
ORPHA:352665 |
Orofaciodigital Syndrome I |
|
Myelomeningocele, Hydrocephalus, Ovarian cyst, Hepatic cysts, Polycystic kidney dysplasia, Vascul... |
OMIM:311200 |
2Q37 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Nephroblastoma, Umbilical hernia, Abnormal aortic morphology |
ORPHA:1001 |
Doors Syndrome |
|
Double outlet right ventricle, Increased urine alpha-ketoglutarate concentration, Abnormality of ... |
ORPHA:79500 |
Microphthalmia, Lenz Type |
|
Hypospadias, Hydroureter, Renal hypoplasia/aplasia, Hydronephrosis |
ORPHA:568 |
Peutz-Jeghers Syndrome |
|
Renal cell carcinoma, Abnormality of the ureter, Enlarged polycystic ovaries, Multiple renal cysts |
ORPHA:2869 |
Campomelia, Cumming Type |
|
Multicystic kidney dysplasia, Multiple renal cysts, Pancreatic cysts |
ORPHA:1318 |
Diaphanospondylodysostosis |
|
Nephroblastomatosis, Cystic renal dysplasia, Nephrogenic rest, Enlarged kidney |
OMIM:608022 |
|