Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
Eph receptor B4
Synonyms:
MDK2,  Myk1,  Htk,  Tyro11,  b2b2412Clo

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Ephb4 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Ephb4 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Lymphatic Malformation 7
Varicose veins, Pericardial effusion, Atrial septal defect OMIM:617300
Vein Of Galen Aneurysmal Malformation
Peripheral arteriovenous fistula, Vascular dilatation ORPHA:1053
Capillary Malformation-Arteriovenous Malformation
Arteriovenous fistula, Cerebral arteriovenous malformation, Abnormal heart morphology, Peripheral... ORPHA:137667
Capillary Malformation-Arteriovenous Malformation 2
OMIM:618196

The table below shows human diseases predicted to be associated to Ephb4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
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
Atrial septal defect, Renal agenesis, Ventricular septal defect, Abnormal pericardium morphology,... ORPHA:1335
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Renal hypoplasia, Hydronephrosis, Aminoaciduria OMIM:617913
Chromosome 2P16.1-P15 Deletion Syndrome
Recurrent upper respiratory tract infections, Wide nasal bridge, Laryngomalacia, Hydronephrosis, ... OMIM:612513
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Abnormal renal collecting system morphology, Interrupted aortic arch, Patent ductus arteriosus, R... ORPHA:17
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Unilateral renal agenesis, Hypoplastic aortic arch, Anteverted nares ORPHA:457284
Alkaptonuria
Aortic aneurysm, Mitral valve calcification, Elevated urinary homogentisic acid, Coronary artery ... OMIM:203500
Smith-Lemli-Opitz Syndrome
Atrial septal defect, Anteverted nares, Ventricular septal defect, Renal hypoplasia, Coarctation ... OMIM:270400
Diaphanospondylodysostosis
Nephroblastomatosis, Short nose, Cystic renal dysplasia, Nephrogenic rest, Enlarged kidney, Trach... OMIM:608022
Peroxisome Biogenesis Disorder 5A (Zellweger)
Renal cortical microcysts, Renal cyst, Abnormal heart morphology OMIM:614866
Tarp Syndrome
Atrial septal defect, Horseshoe kidney, Wide nasal bridge, Pulmonary hypoplasia, Hydronephrosis, ... ORPHA:2886
Phace Association
Arterial stenosis, Ventricular septal defect, Patent ductus arteriosus, Vascular dilatation, Coar... OMIM:606519
Trisomy 20P
Multiple renal cysts, Short nose, Abnormality of the ureter, Abnormal localization of kidney, Hyd... ORPHA:261318
Dyrk1A-Related Intellectual Disability Syndrome
Ventricular septal defect, Unilateral renal agenesis, Patent ductus arteriosus, Aortic valve sten... ORPHA:464306
Granulomatosis With Polyangiitis
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
Short nose, Ventricular septal defect, Multicystic kidney dysplasia, Wide nasal bridge, Aortic va... ORPHA:2308
Criss-Cross Heart
Ventricular septal defect, Abnormal mitral valve morphology, Pulmonic stenosis, Tricuspid stenosi... ORPHA:1461
Kaposiform Lymphangiomatosis
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
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
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Delayed puberty, Right... OMIM:300967
Mosaic Trisomy 16
Atrial septal defect, Horseshoe kidney, Abnormal lung morphology, Ventricular septal defect, Abno... ORPHA:1708
Roberts-Sc Phocomelia Syndrome