Gene Summary

Name:
slit guidance ligand 2
Synonyms:
E130320P19Rik,  E030015M03Rik,  b2b1200.1Clo,  Slil3,  Drad-1

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal spleen morphology Slit2em1(IMPC)Mbp HET Early adult 0.00
enlarged spleen Slit2em1(IMPC)Mbp HET Early adult 0.00
abnormal kidney morphology Slit2em1(IMPC)Mbp HET Early adult 0.00
abnormal placenta morphology Slit2em1(IMPC)Mbp HET E15.5 0.00
preweaning lethality, complete penetrance Slit2em1(IMPC)Mbp HOM   Early adult 0.00
hydrometra Slit2em1(IMPC)Mbp HET Early adult 0.00
abnormal placenta vasculature Slit2em1(IMPC)Mbp HET E15.5 0.00
abnormal placenta morphology Slit2em1(IMPC)Mbp HOM E15.5 0.00
enlarged kidney Slit2em1(IMPC)Mbp HET Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Slit2 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Slit2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Genitopalatocardiac Syndrome
Renal cyst, Double outlet right ventricle, Right aortic arch, Ventricular septal defect, Transpos... OMIM:231060
Fallot Complex With Severe Mental And Growth Retardation
Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Renal Caliceal Diverticuli-Deafness Syndrome
Hydronephrosis, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of... ORPHA:2838
Nephronophthisis 16
Enlarged kidney, Patent ductus arteriosus, Hypertrophic cardiomyopathy, Situs inversus totalis, P... OMIM:615382
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Congenital Primary Megaureter
Nephrolithiasis, Abnormal penis morphology, Hydronephrosis, Abnormality of the upper urinary trac... ORPHA:617
Nephronophthisis 14
Nephronophthisis, Situs inversus totalis, Polycystic kidney dysplasia OMIM:614844
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Nephrotic syndrome, Renal sarcoma, Renal hypoplasia, Hydronephrosis, Mult... OMIM:143400
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus OMIM:125520
Heterotaxy, Visceral, 12, Autosomal
Single coronary artery origin, Dextrocardia, Double outlet right ventricle, Hypoplastic left hear... OMIM:619702
Heterotaxy, Visceral, 8, Autosomal
Unbalanced atrioventricular canal defect, Double outlet right ventricle, Hypoplastic left heart, ... OMIM:617205
Vesicoureteral Reflux 3
Hydronephrosis, Vesicoureteral reflux, Hydroureter OMIM:613674
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:294
Congenital Heart Defects, Multiple Types, 7
Tetralogy of Fallot, Pulmonic stenosis, Right aortic arch, Pulmonary artery atresia, Double aorti... OMIM:618780
Cardiac Septal Defects With Coarctation Of The Aorta
Perimembranous ventricular septal defect, Coarctation of aorta, Secundum atrial septal defect OMIM:212090
Congenital Heart Defects, Multiple Types, 6
Complete atrioventricular canal defect, Tetralogy of Fallot, Total anomalous pulmonary venous ret... OMIM:613854
Congenital Heart Defects, Multiple Types, 5
Dilated cardiomyopathy, Tetralogy of Fallot, Atrial septal defect, Double outlet right ventricle,... OMIM:617912
Dysmyelination With Jaundice
Cryptorchidism, Hydronephrosis, Hypoplasia of penis, Hydroureter OMIM:224250
Heterotaxy, Visceral, 6, Autosomal
Total anomalous pulmonary venous return, Unbalanced atrioventricular canal defect, Dextrocardia, ... OMIM:614779
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Right aortic arch with mirror image branching, Dextrocardia, Atrioventr... OMIM:606217
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Unilateral renal agenesis, Patent ductus arteriosus, Ureteral atresia, Bilateral renal agenesis, ... OMIM:618845
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydronephrosis, Hydroureter OMIM:264140
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hyperechogenic kidneys, Polycystic kidney dysplasia OMIM:617610
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydronephrosis, Death in infancy, Hydroureter OMIM:618240
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Hydronephrosis, Duplicated collecting system OMIM:163850
Congenital Megacalycosis
Enlarged kidney, Renal cyst, Nephrolithiasis, Hematuria, Hydronephrosis, Tubulointerstitial nephr... ORPHA:93109
Aorta Coarctation
Tetralogy of Fallot, Cardiomegaly, Coarctation of the descending aortic arch, Patent ductus arter... ORPHA:1457
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Atrioventricular Septal Defect 5
Muscular ventricular septal defect, Atrioventricular canal defect OMIM:614474
8P23.1 Duplication Syndrome
Hydronephrosis, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis ORPHA:251076
Immunodeficiency, Common Variable, 6
Enlarged kidney, Mesangial Immune complex deposition, Hydronephrosis, Autoimmune thrombocytopenia... OMIM:613496
Congenital Heart Defects, Multiple Types, 4
Tetralogy of Fallot, Coarctation of aorta, Hypoplastic left heart, Ventricular septal defect, Atr... OMIM:615779
Urofacial Syndrome 1
Cryptorchidism, Hydronephrosis, Enuresis, Urethral obstruction, Recurrent urinary tract infection... OMIM:236730
Humero-Radio-Ulnar Synostosis
Abnormality of the ureter, Abnormality of the upper urinary tract ORPHA:3266
Thymic-Renal-Anal-Lung Dysplasia
Renal agenesis, Ureteral dysgenesis, Anal atresia, Ureteral agenesis OMIM:274265
Thymic Aplasia With Fetal Death
Renal agenesis, Stillbirth, Ureteral agenesis OMIM:274210
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Abnormal aortic arch morphology, Patent ductus arteriosus, Hypoplastic left... ORPHA:1455
Heterotaxy, Visceral, 4, Autosomal
Complete atrioventricular canal defect, Total anomalous pulmonary venous return, Dextrotransposit... OMIM:613751
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Renal insufficiency, Cerebral berry aneurysm, Mitral valve prolapse,... OMIM:173900
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect OMIM:618782
Tricuspid Atresia
Patent foramen ovale, Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Hypoplasia o... ORPHA:1209
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Splenomegaly, Elevated urinary delta-aminolevulinic acid, Jaundice OMIM:206400
Megabladder, Congenital
Multiple glomerular cysts, Patent ductus arteriosus, Atrial septal defect, Left ventricular nonco... OMIM:618719
Heterotaxy, Visceral, 7, Autosomal
Total anomalous pulmonary venous return, Pulmonary artery hypoplasia, Abnormal tricuspid valve mo... OMIM:616749
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Dextrocardia, Situs inversus totalis, Polycystic kidney dysplasia, Recurrent urinary tract infect... OMIM:613095
Peroxisome Biogenesis Disorder 3A (Zellweger)
Vascular dilatation, Polycystic kidney dysplasia OMIM:614859
Testicular Anomalies With Or Without Congenital Heart Disease
Micropenis, Tetralogy of Fallot, Perineal hypospadias, Microphallus OMIM:615542
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Tetralogy of Fallot, Ventricular septal defect, Hypoplastic right heart OMIM:601348
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Double outlet right ventricle, Coarct... OMIM:217095
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hypoplasia of penis, Abnormality of the upper urinary tract, Duodenal stenosis, Hydroureter, Abno... ORPHA:2547
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Pyloric stenosis, Vesicoureteral reflux, Nephrolithiasis, Hydroureter OMIM:617219
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
Fetal megacystis, Intestinal malrotation, Hydroureter OMIM:249210
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Overriding aorta, Patent ductus arteriosus, Atrial septal defect, Vascular ring, Ventricular sept... OMIM:601927
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Atrial septal defect, Multicystic kidney dysplasia, Cardiomyopa... ORPHA:1909
Prune Belly Syndrome
Abnormality of the ureter, Cryptorchidism, Intestinal malrotation, Renal insufficiency, Anal atre... ORPHA:2970
Ring Chromosome 8 Syndrome
Hydronephrosis, Abnormality of the ureter, Low posterior hairline ORPHA:1450
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Renal cyst, Portal hypertension, Pancreatic cysts, Periportal fibrosis, Splenome... OMIM:263200
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Dilatation of the cerebral artery, Hepatic cysts, Polycystic kidney dysplasia OMIM:600666
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Renal hypoplasia, Renal cyst, Ventricular septal defect, Truncus arteriosus OMIM:228940
Mungan Syndrome
Perimembranous ventricular septal defect, Renal hypoplasia, Vesicoureteral reflux, Pulmonic stenosis OMIM:611376
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Unilateral renal agenesis, Horseshoe kidney, Patent ductus arteriosus, Atrial septal defect, Micr... ORPHA:363444
Renal Dysplasia
Ureteral atresia, Functional abnormality of the bladder, Hydronephrosis, Multicystic kidney dyspl... ORPHA:93108
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal aortic arch morphology, Patent ductus arteriosus, A... ORPHA:860
Renal Hypodysplasia/Aplasia 3
Renal agenesis, Horseshoe kidney, Hydronephrosis, Multicystic kidney dysplasia, Renal dysplasia, ... OMIM:617805
Hemoglobin H Disease
Splenomegaly, Hepatomegaly, HbH hemoglobin, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Renal Tubular Dysgenesis
Tetralogy of Fallot, Proximal tubulopathy, Nephropathy, Renotubular dysgenesis, Multiple renal cysts ORPHA:3033
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Atrial Septal Defect 2
Atrial septal defect, Ventricular septal defect, Atrioventricular canal defect OMIM:607941
Ritscher-Schinzel Syndrome 1
Tetralogy of Fallot, Atrial septal defect, Hydronephrosis, Double outlet right ventricle, Pulmoni... OMIM:220210
Structural Heart Defects And Renal Anomalies Syndrome
Tetralogy of Fallot, Renal cyst, Tricuspid atresia, Atrial septal defect, Partial anomalous pulmo... OMIM:617478
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Enlarged kidney, Isomerism, Atrioventricular canal defect, Hydronephrosis, Transposition of the g... OMIM:314390
Partial Atrioventricular Septal Defect
Tetralogy of Fallot, Abnormal tricuspid valve morphology, Patent ductus arteriosus, Partial atrio... ORPHA:1330
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly, Hepatomegaly ORPHA:46532
Lower Limb Malformation-Hypospadias Syndrome
Abnormality of the ureter, Hypospadias ORPHA:2487
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Vascular ring, Ventricular septal defect OMIM:603387
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney, Polycystic ovaries ORPHA:90301
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus ORPHA:228190
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Abnormality of the pulmonary artery, Ventricular septal defect, Renal hypopl... ORPHA:1166
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydronephrosis, Megacystis, Microcolon, Hydroureter, Neonatal death, Fetal megacystis OMIM:619362
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Prune Belly Syndrome
Cryptorchidism, Hydronephrosis, Anal atresia, Congenital posterior urethral valve, Hydroureter, U... OMIM:100100
Ciliary Dyskinesia, Primary, 39
Dextrocardia, Double outlet right ventricle OMIM:618254
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Atrial septal defect, Tetralogy of Fallot, Situs inversus totalis OMIM:601322
Aa Amyloidosis
Enlarged kidney, Nephrotic syndrome, Cholestasis, Acute kidney injury, Proteinuria, Abnormality o... ORPHA:85445
Recombinant Chromosome 8 Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Hydronephrosis, Double outle... OMIM:179613
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Wolfram Syndrome, Mitochondrial Form
Hydronephrosis, Hydroureter OMIM:598500
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Cystic renal dysplasia, Cholestasis, Hepatomegaly, Asplenia, Hepatic fibrosis OMIM:615415
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Patent ductus arteriosus, Double outlet right ventricle, Pulmonic stenosis, Coarctation of aorta,... OMIM:618164
Heterotaxy, Visceral, 2, Autosomal
Mesocardia, Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Abdominal situs ... OMIM:605376
Double Outlet Right Ventricle
Tetralogy of Fallot, Heterotaxy, Double outlet right ventricle, Pulmonic stenosis, Coarctation of... ORPHA:3426
Bladder Exstrophy And Epispadias Complex
Unilateral renal agenesis, Hydroureter, Horseshoe kidney, Bladder exstrophy, Epispadias, Anterior... OMIM:600057
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Tetralogy of Fallot, Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, Double... OMIM:618316
Congenital Anomalies Of Kidney And Urinary Tract 3
Hydronephrosis, Ectopic kidney, Vesicoureteral reflux, Renal cyst OMIM:618270
Feingold Syndrome Type 1
Horseshoe kidney, Patent ductus arteriosus, Tricuspid atresia, Hydronephrosis, Tricuspid stenosis... ORPHA:391641
Ciliary Dyskinesia, Primary, 37
Right aortic arch, Dextrocardia, Situs inversus totalis OMIM:617577
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus OMIM:604381
Urofacial Syndrome 2
Hydronephrosis, Enuresis, Urinary urgency, Recurrent urinary tract infections, Renal insufficienc... OMIM:615112
Aortic Valve Disease 1
Double outlet right ventricle, Mitral stenosis, Mitral atresia, Ventricular septal defect, Bicusp... OMIM:109730
Distal Tetrasomy 15Q
Horseshoe kidney, Patent ductus arteriosus, Atrial septal defect, Hydronephrosis, Dilatation of t... ORPHA:314588
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Renal dysplasia, Hyperechogenic kidneys, Renal insufficiency, Vesicourete... OMIM:601331
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:617992
Diabetic Embryopathy
Tetralogy of Fallot, Ureteral duplication, Renal hypoplasia/aplasia, Micropenis, Hydronephrosis, ... ORPHA:1926
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Renal-Hepatic-Pancreatic Dysplasia 1
Biliary cirrhosis, Enlarged kidney, Cholestasis, Pancreatic cysts, Bile duct proliferation, Urete... OMIM:208540
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Tetralogy of Fallot, Abnormal ao... ORPHA:99050
Heterotaxy, Visceral, 5, Autosomal
Right atrial isomerism, Ureteral stenosis, Total anomalous pulmonary venous return, Patent ductus... OMIM:270100
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Patent ductus arteriosus, Thoracic aortic aneurysm, Left superior vena cava draining directly to ... OMIM:619657
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia OMIM:269600
Bardet-Biedl Syndrome 10
Renal cyst, Abnormality of the kidney, Renal insufficiency OMIM:615987
Alagille Syndrome 2
Tetralogy of Fallot, Renal cyst, Renal tubular acidosis, Hematuria, Proteinuria, Atrial septal de... OMIM:610205
Meacham Syndrome
Tetralogy of Fallot, Enlarged kidney, Horseshoe kidney, Patent ductus arteriosus, Atrial septal d... OMIM:608978
Microphthalmia, Syndromic 9
Tetralogy of Fallot, Horseshoe kidney, Patent ductus arteriosus, Renal malrotation, Atrial septal... OMIM:601186
Cardiomyopathy, Dilated, 2D
Right atrial enlargement, Dilated cardiomyopathy, Interstitial cardiac fibrosis, Patent foramen o... OMIM:619371
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Nephronophthisis 19
Nephronophthisis, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatomegaly, Stage 5 chron... OMIM:616217
Tyrosinemia Type 1
Generalized aminoaciduria, Hepatocellular carcinoma, Splenomegaly, Hepatomegaly ORPHA:882
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Congenital Heart Defects, Multiple Types, 2
Tetralogy of Fallot, Myxomatous mitral valve degeneration, Subvalvular aortic stenosis, Aortic an... OMIM:614980
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome
Renal hypoplasia/aplasia, Hydronephrosis, Intestinal malrotation, Tracheoesophageal fistula, Anal... ORPHA:2973
Nephronophthisis 20
Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease, Renal insufficiency OMIM:617271
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Atrial septal defect, Coarctation of aorta, Ventricular septal defect, Trans... ORPHA:261243
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly, Hepatomegaly OMIM:606445
Nephronophthisis 2
Nephronophthisis, Enlarged kidney, Renal cortical microcysts, Chronic tubulointerstitial nephriti... OMIM:602088
Ureter, Bifid Or Double
Ureteral duplication OMIM:191550
22Q11.2 Duplication Syndrome
Tetralogy of Fallot, Hydronephrosis, Hypoplastic left heart, Ventricular septal defect, Displacem... ORPHA:1727
Fanconi Anemia, Complementation Group O
Abnormal heart morphology, Renal cyst, Stage 5 chronic kidney disease, Hydronephrosis OMIM:613390
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly OMIM:619175
Heart Defects, Congenital, And Other Congenital Anomalies
Glycosuria, Tetralogy of Fallot, Patent foramen ovale, Patent ductus arteriosus, Double outlet le... OMIM:600001
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Caudal Duplication Anomaly
Ureteral duplication OMIM:607864
Heterotaxy, Visceral, 1, X-Linked
Total anomalous pulmonary venous return, Dextrocardia, Double outlet right ventricle, Hypoplastic... OMIM:306955
Truncus Arteriosus
Pulmonary artery hypoplasia, Single coronary artery origin, Abnormal superior vena cava morpholog... ORPHA:3384
Mandibulofacial Dysostosis With Alopecia
Hydroureter, Sparse eyebrow, Sparse eyelashes, Glossoptosis, Alopecia, Cleft palate OMIM:616367
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Perimembranous ventricular septal defect, Pulmonic stenosis, Transposition of the great arteries OMIM:617877
Immunodeficiency 48
Splenomegaly, Hepatomegaly OMIM:269840
Ciliary Dyskinesia, Primary, 40
Patent ductus arteriosus, Unbalanced atrioventricular canal defect, Interrupted inferior vena cav... OMIM:618300
Scimitar Syndrome
Pulmonary artery hypoplasia, Tricuspid atresia, Dextrocardia, Double outlet right ventricle, Hypo... ORPHA:185
Laterality Defects, Autosomal Dominant
Heterotaxy, Situs inversus totalis OMIM:601086
Congenital Disorder Of Glycosylation, Type Il
Polycystic kidney dysplasia, Pericardial effusion, Abnormal cardiac septum morphology OMIM:608776
Hypoplastic Left Heart Syndrome
Patent ductus arteriosus, Atrial septal defect, Hypoplastic left heart, Mitral stenosis, Mitral a... ORPHA:2248
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydronephrosis, Intestinal malrotation, Megacystis, Microcolon, Hydroureter OMIM:619431
Adams-Oliver Syndrome 4
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:615297
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Renal Hypoplasia
Unilateral renal agenesis, Abnormal renal tubule morphology, Abnormality of the ureter, Decreased... ORPHA:93101
Thomas Syndrome
Multicystic kidney dysplasia, Hypoplastic left heart, Renal hypoplasia/aplasia ORPHA:3316
Right Atrial Isomerism
Right atrial isomerism, Complete atrioventricular canal defect, Tetralogy of Fallot, Total anomal... OMIM:208530
Ureterocele
Duplicated collecting system, Ureterocele OMIM:191650
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Cryptorchidism, Intestinal malrotation, Megacystis, Multicystic kidney dysplasia, Microcolon, Hyd... ORPHA:2241
Noonan Syndrome 9
Cryptorchidism, Curly hair, Sparse eyebrow, Hydroureter OMIM:616559
Igg4-Related Aortitis
Abnormal aortic arch morphology, Thoracic aortic aneurysm, Hydronephrosis, Dilated left subclavia... ORPHA:449400
Trimethylaminuria
Neutropenia, Anemia, Splenomegaly, Trimethylaminuria OMIM:602079
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Immunodeficiency 104
Lymphadenopathy, T lymphocytopenia, Splenomegaly, Hepatomegaly OMIM:608971
Bardet-Biedl Syndrome 16
Renal agenesis, Renal cyst, Abnormality of the kidney, Renal dysplasia, Renal insufficiency OMIM:615993
Erythroleukemia, Familial, Susceptibility To
Leukemia, Acute myeloid leukemia, Splenomegaly, Hepatomegaly, Anemia, Erythroid hyperplasia, Thro... OMIM:133180
Aorto-Ventricular Tunnel
Abnormal heart valve morphology, Aortic root aneurysm, Abnormal coronary artery morphology, Ventr... ORPHA:3400
Cloacal Exstrophy
Ectopic kidney, Horseshoe kidney, Renal hypoplasia/aplasia, Intestinal duplication, Intestinal ma... ORPHA:93929
Hyperbilirubinemia, Shunt, Primary
Splenomegaly, Hepatomegaly, Jaundice, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequat... OMIM:237800
Ventricular Septal Defect 3
Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect, Patent ductus arteriosus OMIM:614432
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Anemia, Splenomegaly, Thrombocytopenia ORPHA:231393
Anemia, Hypochromic Microcytic, With Iron Overload 2
Poikilocytosis, Azoospermia, Splenomegaly, Hepatomegaly, Anemia, Decreased mean corpuscular volum... OMIM:615234
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Hypoplastic Left Heart Syndrome 1
Hypoplastic left heart, Aortic valve stenosis, Coarctation of aorta OMIM:241550
Laubry-Pezzi Syndrome
Patent foramen ovale, Abnormal aortic valve cusp morphology, Patent ductus arteriosus, Aortic val... ORPHA:99094
Cardiomyopathy, Dilated, 1S
Interstitial cardiac fibrosis, Dilated cardiomyopathy, Left ventricular noncompaction, Pulmonary ... OMIM:613426
Amyloidosis, Familial Visceral
Nephrotic syndrome, Hematuria, Cholestasis, Proteinuria, Splenomegaly, Hepatomegaly, Nephropathy OMIM:105200
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Recurrent urinary tract infections, Lymp... OMIM:618495
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Hydronephrosis, Abnormality of the urinary system ORPHA:2669
Congenital Gerbode Defect
Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Constrictive pericarditis,... ORPHA:99095
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Pyelonephritis, Renal cyst, Nephrolithiasis, Pancreatic cysts, Hematuria, Decrea... ORPHA:730
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncus arteriosus, Patent ductus arteriosus, Coarctation of aorta, Bicuspid aortic valve, Transp... OMIM:612474
Hyperparathyroidism 2 With Jaw Tumors
Nephrolithiasis, Renal cortical adenoma, Polycystic kidney dysplasia, Papillary renal cell carcin... OMIM:145001
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Atresia Of Urethra
Hydronephrosis, Dilatation of the bladder, Patent urachus, Megacystis, Renal dysplasia, Recurrent... ORPHA:105
Bardet-Biedl Syndrome 6
Renal cyst, Hypospadias OMIM:605231
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Hepatic fibrosis, Splenomegaly, Hepatomegaly OMIM:614480
Cardiac Valvular Defect, Developmental
Urethral diverticulum, Patent foramen ovale, Tricuspid atresia, Arteria lusoria, Hydronephrosis, ... OMIM:212093
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Patent foramen ovale, Atrial septal defect, Double outlet right ventricle, Abno... ORPHA:477817
Trisomy 17P
Patent ductus arteriosus, Hydronephrosis, Hypoplasia of penis, Polycystic kidney dysplasia, Hypop... ORPHA:261290
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Johnson Neuroectodermal Syndrome
Micropenis, Right aortic arch, Ventricular septal defect, Patent ductus arteriosus OMIM:147770
Sandestig-Stefanova Syndrome
Perimembranous ventricular septal defect, Muscular ventricular septal defect OMIM:618804
Galactosemia Iii
Splenomegaly, Hepatomegaly, Jaundice, Aminoaciduria, Galactosuria OMIM:230350
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Unilateral renal agenesis, Ventricular septal defect, Truncus arteriosus OMIM:601355
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Thrombocytopenia, Extramedullary hem... OMIM:615285
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal cyst, Renal hypoplasia, Ureteral agenesis, Renal dysplasia, Neonatal death, Stillbirth OMIM:236500
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Velocardiofacial Syndrome
Tetralogy of Fallot, Ventricular septal defect, Pulmonary artery atresia, Double aortic arch, Int... OMIM:192430
Mu-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Abnormal B cell count, Anemia, Bence Jones Proteinuria, Lymphadenopat... ORPHA:100024
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Hemolytic anemia, Lymphad... ORPHA:444463
Ventricular Septal Defect 1
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis OMIM:614429
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Abnormal aortic valve cusp morphology, Dextrocardia, Single ventricle, Ventricular se... ORPHA:216694
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Proteinuria, Renal hypoplasia, Stage 5 chronic kidney disease, Focal segmenta... OMIM:616002
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Overriding aorta, Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Double out... ORPHA:3304
Fetal Encasement Syndrome
Tetralogy of Fallot, Increased urinary 8-oxo-7,8-dihydroguanosine level, Horseshoe kidney OMIM:613630
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis OMIM:249670
Phenobarbital Embryopathy
Abnormal mitral valve morphology, Tetralogy of Fallot, Hypospadias ORPHA:1919
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Renal cyst, Hematuria, Retinal arteriolar tortuosity, Dilatation of the cerebral artery, Nephropa... OMIM:611773
Caudal Duplication
Ureteral duplication, Abnormal penis morphology, Cryptorchidism, Intestinal duplication, Renal hy... ORPHA:1756
Maternal Phenylketonuria
Tetralogy of Fallot, Bladder exstrophy, Double outlet right ventricle, Coarctation of aorta, Hypo... ORPHA:2209
Autoinflammation With Episodic Fever And Lymphadenopathy
Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Hepatomegaly, Lymphadenopathy OMIM:618852
Familial Visceral Myopathy
Aganglionic megacolon, Megacystis, Cleft palate, Hydroureter, Hyperparathyroidism, Vesicoureteral... ORPHA:2604
Wolfram Syndrome 1
Hydroureter, Hydronephrosis, Testicular atrophy, Neurogenic bladder OMIM:222300
Hanac Syndrome
Multiple renal cysts, Hematuria, Renal insufficiency ORPHA:73229
Kaposiform Lymphangiomatosis
Enlarged kidney, Hepatosplenomegaly, Lymphangioma, Pancreatic cysts, Splenomegaly, Abnormal splee... ORPHA:464329
Czeizel-Losonci Syndrome
High palate, Hydronephrosis, Tracheoesophageal fistula, Ureteral agenesis, Hypoplastic nipples, A... ORPHA:2437
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Unilateral renal agenesis, Muscular ventricular septal defect, Renal agenesis OMIM:619227
Nephrogenic Diabetes Insipidus
Hydroureter, Enuresis nocturna, Functional abnormality of the bladder, Hyposthenuria, Renal insuf... ORPHA:223
Isolated Splenogonadal Fusion
Abnormality of the epididymis, Unilateral cryptorchidism, Abnormal penis morphology, Ectopia of t... ORPHA:457083
Congenital Alveolar Capillary Dysplasia
Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Hydronephrosis, Hypoplastic ... ORPHA:210122
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria, Splenomegaly, Hepatomegaly ORPHA:417
Immunodeficiency 84
Splenomegaly, B lymphocytopenia OMIM:619437
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly ORPHA:139406
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Ventricular septal defect, Hydronephrosis OMIM:607598
Gillessen-Kaesbach-Nishimura Syndrome
Abnormal heart morphology, Polycystic kidney dysplasia OMIM:263210
Galactose Epimerase Deficiency
Aminoaciduria, Splenomegaly, Hepatomegaly, Jaundice ORPHA:79238
Alpha-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Premature ovarian insufficiency ORPHA:100025
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Patent foramen ovale, Atrial septal defect, Muscular ventricular septal... ORPHA:439
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Hydronephrosis, Ureteral atresia OMIM:183802
Macdermot-Winter Syndrome
Hydronephrosis OMIM:247990
Familial Aortic Dissection
Mucoid extracellular matrix accumulation, Patent ductus arteriosus, Aortic root aneurysm, Descend... ORPHA:229
Congenital Tracheomalacia
Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Partial anomalous pulmonary ... ORPHA:95430
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Leukopenia, Bone marrow hypocellularity, Nephrotic syndrome, Proteinuria, Spleno... OMIM:617303
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Abnormality of the ureter, Hypospadias, Hypoplasia of penis, Renal hypoplasia/aplasia ORPHA:1046
Aortic Aneurysm, Familial Thoracic 4
Posterior cerebral artery stenosis, Thoracic aortic aneurysm, Patent ductus arteriosus, Descendin... OMIM:132900
Kallmann Syndrome-Heart Disease Syndrome
Renal agenesis, Dilated cardiomyopathy, Pulmonary artery hypoplasia, Micropenis, Double outlet ri... ORPHA:2326
Codas Syndrome
Hydroureter ORPHA:1458
Meacham Syndrome
Tetralogy of Fallot, Horseshoe kidney, Patent ductus arteriosus, Conotruncal defect, Atrial septa... ORPHA:3097
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Renal agenesis, Micropenis, Hydronephrosis, Ventricular septal defect, Perimembranous ventricular... OMIM:301040
Tyrosinemia, Type I
Enlarged kidney, Nephrocalcinosis, Glomerular sclerosis, Renal Fanconi syndrome, Ascites, Pancrea... OMIM:276700
Mckusick-Kaufman Syndrome
Tetralogy of Fallot, Glandular hypospadias, Patent ductus arteriosus, Atrial septal defect, Hydro... ORPHA:2473
Polysyndactyly With Cardiac Malformation
Atrial septal defect, Renal cyst, Hepatic cysts, Ventricular septal defect OMIM:263630
Portal Hypertension, Noncirrhotic, 1
Portal hypertension, Hepatomegaly, Splenomegaly OMIM:617068
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Splenomegaly, Hemolytic anemia ORPHA:228312
Femoral-Facial Syndrome
Abnormal localization of kidney, Long penis, Renal hypoplasia/aplasia, Polycystic kidney dysplasia ORPHA:1988
Dilated Cardiomyopathy With Ataxia
Dilated cardiomyopathy, Perineal hypospadias, Muscular ventricular septal defect, 3-Methylglutaco... ORPHA:66634
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Hadziselimovic Syndrome
Tetralogy of Fallot, Atrial septal defect, Renal hypoplasia, Pulmonary artery atresia, Ventricula... OMIM:612946
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Renal hypoplasia, Chronic kidney disease, Tubulointerstitial fibrosis, Anemia, Renal... OMIM:613092
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:66661
6P22 Microdeletion Syndrome
Hydronephrosis, Patent ductus arteriosus ORPHA:251046
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Cryptorchidism, Hydronephrosis, Renal dysplasia, Decreased response to growth hormone stimulation... OMIM:604292
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Renal cyst, Chronic kidney disease, Nephropathy, Focal segmental glomerulosclerosis, Vascular dil... OMIM:617056
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Splenomegaly, Hepatomegaly OMIM:618541
Transketolase Deficiency
Renal cyst, Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, Abnormal corona... ORPHA:488618
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Myeloproliferative disorder, Splenomegaly, Hepatomegaly OMIM:607685
Isolated Polycystic Liver Disease
Vascular dilatation, Multiple renal cysts ORPHA:2924
Testicular Regression Syndrome
Absent testis, Abnormal morphology of female internal genitalia, Aplasia/Hypoplasia of the testes... ORPHA:983
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Pallister-Hall Syndrome
Ectopic kidney, Renal cyst, Micropenis, Hydronephrosis, Renal hypoplasia, Cryptorchidism, Panhypo... OMIM:146510
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequate production OMIM:224100
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Renal agenesis, Tetralogy of Fallot, Horseshoe kidney, Atrioventricular canal defect, Renal hypop... ORPHA:508498
Alpha-Thalassemia
Cholelithiasis, Microcytic anemia, Splenomegaly, Jaundice, Anemia, Hemolytic anemia, Abnormal hem... ORPHA:846
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Abnormal myocardium morphology, Cystic renal dysplasia, Tubulointerstitial nephritis, Myoglobinur... ORPHA:228308
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Tetralogy of Fallot, Subvalvular aortic stenosis, Pulmonary artery atresia, Ventricular septal de... OMIM:108900
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hydronephrosis, Duplicated collecting system OMIM:617093
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Cystic renal dysplasia, Ascites, Hepatomegaly, Pancreatic fibrosis, Polysplenia,... OMIM:200995
Peroxisome Biogenesis Disorder 12A (Zellweger)
Atrial septal defect, Patent ductus arteriosus, Renal tubular dysfunction, Double outlet right ve... OMIM:614886
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Enlarged kidney, Ureteral duplication, Hydronephrosis, Polycystic kidney ... OMIM:608836
Phelan-Mcdermid Syndrome
Patent ductus arteriosus, Abnormality of the kidney, Polycystic kidney dysplasia, Ventricular sep... OMIM:606232
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Micropenis, Hydronephrosis, Double outlet right ventricle, Pulmonic stenosis, Duplicated collecti... OMIM:301056
Frontometaphyseal Dysplasia 1
Hydronephrosis, Hirsutism, High palate, Hydroureter OMIM:305620
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Hemihyperplasia-Multiple Lipomatosis Syndrome
Enlarged kidney, Abnormality of the lymphatic system, Nephroblastoma, Ovarian serous cystadenoma,... ORPHA:276280
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal hypertension, Hepatomegaly, Splenomegaly OMIM:610293
Hinman Syndrome
Hydronephrosis, Enuresis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral... ORPHA:84085
Syndromic Diarrhea
Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Renal hypoplasia, Peripheral... ORPHA:84064
Campomelia, Cumming Type
Pancreatic cysts, Polycystic kidney dysplasia OMIM:211890
Splenoportal Vascular Anomalies
Splenomegaly, Anomalous splenoportal venous system, Ascites, Cirrhosis, Hepatic fibrosis OMIM:271500
Carnitine Palmitoyltransferase Ii Deficiency
Cystic renal dysplasia, Tubulointerstitial nephritis, Myoglobinuria, Red-brown urine, Polycystic ... ORPHA:157
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Fetal Trimethadione Syndrome
Tetralogy of Fallot, Atrial septal defect, Ventricular septal defect, Transposition of the great ... ORPHA:1913
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Renal agenesis, Renal hypoplasia, Hydronephrosis, Abnormal heart morphology, Abnormal cardiac sep... OMIM:618494
Immunodeficiency 69
Pancytopenia, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Splenomegaly, Anemia OMIM:618963
Short Rib-Polydactyly Syndrome
Nephronophthisis, Multiple glomerular cysts, Abnormality of the kidney, Hepatic cysts, Situs inve... ORPHA:1505
Hypertelorism And Tetralogy Of Fallot
Tetralogy of Fallot, Patent foramen ovale, Patent ductus arteriosus, Tetralogy of Fallot with abs... OMIM:239711
Epidermal Nevus Syndrome
Aortic aneurysm, Polycystic kidney dysplasia ORPHA:35125
Autosomal Recessive Polycystic Kidney Disease
Hepatoblastoma, Cholestasis, Cholangitis, Polycystic kidney dysplasia, Recurrent urinary tract in... ORPHA:731
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Renal cyst OMIM:138790
Primary Ciliary Dyskinesia
Situs inversus totalis, Double outlet right ventricle, Abnormal atrial arrangement, Abnormal hear... ORPHA:244
Trisomy 1Q
Cryptorchidism, Hydronephrosis, Anal atresia, Multicystic kidney dysplasia, Cleft palate, Congeni... ORPHA:261344
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Hydronephrosis, Polycystic kidney dysplasia, Abnormal heart morphology... ORPHA:2237
Multiple Acyl-Coa Dehydrogenase Deficiency
Lacticaciduria, 3-Methylglutaric aciduria, Polycystic kidney dysplasia, Abnormal heart morphology... ORPHA:26791
Ventriculomegaly With Defects Of The Radius And Kidney
Renal agenesis, Ectopic kidney, Horseshoe kidney, Ureteral duplication OMIM:602200
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Abnormal heart morphology, Tetralogy of Fallot, Persistent left superior ve... OMIM:614954
Hemochromatosis, Type 2B
Splenomegaly, Hepatomegaly, Anemia, Cirrhosis, Hepatic fibrosis, Hypogonadism OMIM:613313
Multiple Acyl-Coa Dehydrogenase Deficiency
Glycosuria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Polycystic kid... OMIM:231680
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Renal agenesis, Truncus arteriosus, Ventricular septal defect, Renal hypoplasia/aplasia, Abnormal... ORPHA:2516
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Polycystic ovaries, Atrial septal defect, Double outlet right ventricle, Coarctation of aorta, Ve... ORPHA:371428
Encephalocraniocutaneous Lipomatosis
Atrial septal defect, Hydronephrosis, Subvalvular aortic stenosis, Peripheral pulmonary artery st... OMIM:613001
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Phaver Syndrome
Myelomeningocele, Coarctation of aorta, Pulmonary artery atresia, Ventricular septal defect, Hypo... ORPHA:2876
Peroxisome Biogenesis Disorder 2A (Zellweger)
Abnormal heart morphology, Aminoaciduria, Polycystic kidney dysplasia OMIM:214110
Caudal Regression Syndrome
Renal agenesis, Ectopic kidney, Abnormality of the ureter, Ureteral duplication, Cryptorchidism, ... ORPHA:3027
Cat-Eye Syndrome
Abnormal localization of kidney, Hydronephrosis, Renal hypoplasia/aplasia ORPHA:195
Raine Syndrome
High palate, Hydronephrosis, Highly arched eyebrow, Hydroureter, Neonatal death, Protruding tongu... OMIM:259775
Marden-Walker Syndrome
Renal agenesis, Hydroureter, Bifid uvula, Renal hypoplasia/aplasia, Abnormal penis morphology, Hy... ORPHA:2461
Verheij Syndrome
Renal agenesis, Renal hypoplasia, Renal cyst, Abnormal cardiac septum morphology OMIM:615583
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Coarctation of aorta, Patent ductus arteriosus, Abnormal cardiac septum morphology OMIM:601612
Grange Syndrome
Arterial stenosis, Ventricular septal defect, Patent ductus arteriosus ORPHA:79094
Microphthalmia, Lenz Type
Hydroureter, Cryptorchidism, Hydronephrosis, Renal hypoplasia/aplasia, Hypospadias ORPHA:568
Mckusick-Kaufman Syndrome
Rectovaginal fistula, Cryptorchidism, Hydronephrosis, Aganglionic megacolon, Anal atresia, Vesico... OMIM:236700
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Tetralogy of Fallot, Hypoplasia of penis, Hypospadias ORPHA:1381
Meckel Syndrome, Type 7
Multiple glomerular cysts, Patent ductus arteriosus, Pancreatic cysts, Atrial septal defect, Situ... OMIM:267010
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Aplasia of the uterus, Nephrocalcinosis, Nephrotic syndrome, Septate vagina, Hematuria, Proteinur... OMIM:146255
3C Syndrome
Tetralogy of Fallot, Abnormal tricuspid valve morphology, Atrial septal defect, Abnormal mitral v... ORPHA:7
Joubert Syndrome 18
Horseshoe kidney, Ventricular septal defect OMIM:614815
Penile Agenesis
Fetal pyelectasis, Rectal fistula, Urethral atresia, male, Cystic renal dysplasia, Urethral fistu... ORPHA:49
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Hydronephrosis, Hypospadias, Recurrent urinary tract infections, Neurogenic bladder, Stage 2 chro... OMIM:191800
Bladder Exstrophy
Abnormality of the ureter, Intestinal malrotation, Bladder exstrophy, Hypoplasia of penis, Abnorm... ORPHA:93930
Glycogen Storage Disease Ib
Enlarged kidney, Nephrolithiasis, Proteinuria, Decreased glomerular filtration rate, Hepatomegaly... OMIM:232220
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:86893
Trisomy 13
Abnormality of the ureter, Patent ductus arteriosus, Atrial septal defect, Hydronephrosis, Ventri... ORPHA:3378
Odontochondrodysplasia 1
Nephronophthisis, Polycystic kidney dysplasia OMIM:184260
H Syndrome
Microcytic anemia, Enlarged kidney, Hepatosplenomegaly, Histiocytosis, Micropenis, Azoospermia, A... ORPHA:168569
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Cryptorchidism, Hydronephrosis, Renal dysplasia, Decreased response to growth hormone stimulation... OMIM:129900
Image Syndrome
Hydronephrosis, Hypospadias ORPHA:85173
46,Xy Sex Reversal 3
Hypoplasia of the uterus, Penoscrotal hypospadias, Sex reversal, Ambiguous genitalia, Exaggerated... OMIM:612965
Glycogen Storage Disease Ia
Enlarged kidney, Nephrolithiasis, Proteinuria, Decreased glomerular filtration rate, Hepatomegaly... OMIM:232200
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatomegaly, Neu... OMIM:614470
Beta-Mercaptolactate Cysteine Disulfiduria
High palate, Abnormality of the ureter ORPHA:1035
14Q24.1Q24.3 Microdeletion Syndrome
Ectopic kidney, Atrial septal defect, Abnormal heart morphology, Pulmonary artery atresia, Ventri... ORPHA:401935
Immunodeficiency 76
T lymphocytopenia, Splenomegaly, B lymphocytopenia, Lymphadenopathy, Lymphopenia OMIM:619164
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Nephrolithiasis, Patent ductus arteriosus, Atrial septal defect, Hydronephrosis, Hypospadias, Pul... ORPHA:353281
Isotretinoin-Like Syndrome
Abnormal aortic arch morphology, Patent ductus arteriosus, Conotruncal defect, Abnormal cardiac a... ORPHA:2306
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Horseshoe kidney, Renal hypoplasia, Anteriorly displaced urethral meatus, ... OMIM:266810
Carpenter Syndrome 1
Cryptorchidism, Hydronephrosis, High palate, Hydroureter OMIM:201000
Endocrine-Cerebroosteodysplasia
Enlarged kidney, Small scrotum, Micropenis, Cryptorchidism, Hyperechogenic kidneys, Sex reversal,... OMIM:612651
Left Ventricular Noncompaction 1
Left ventricular noncompaction, Patent ductus arteriosus, Left ventricular noncompaction cardiomy... OMIM:604169
Fibromuscular Dysplasia, Arterial
Arterial fibromuscular dysplasia, Renovascular hypertension, Aortic dissection OMIM:135580
Penoscrotal Transposition
Renal agenesis, Abnormality of the ureter, Renal dysplasia, Abnormality of the urethra, Hypospadi... ORPHA:2842
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Neutropenia, Anemia, Lymphadenopathy, Thr... OMIM:603552
Joubert Syndrome 39
Hypoplastic left heart, Polycystic kidney dysplasia OMIM:619562
Methimazole Embryofetopathy
Abnormal aortic morphology, Hypospadias, Ventricular septal defect, Coarctation of aorta ORPHA:1923
Igg4-Related Kidney Disease
Proteinuria, Hydronephrosis, Prostatitis, Membranous nephropathy, Renal interstitial immunoglobul... ORPHA:449395
Oeis Complex
Renal agenesis, Rectovaginal fistula, Micropenis, Hydronephrosis, Cryptorchidism, Duplicated colo... OMIM:258040
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Patent ductus arteriosus OMIM:617044
Congenital Total Pulmonary Venous Return Anomaly
Patent ductus arteriosus, Atrial septal defect, Supracardiac total anomalous pulmonary venous con... ORPHA:99125
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of memory B cells, Hepatosplenomegaly, Stage 5 chronic kidney disease, Nephr... OMIM:615559
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
High palate, Long eyelashes, Cryptorchidism, Thick eyebrow, Highly arched eyebrow, Thick hair, Sy... OMIM:610759
Right Pulmonary Artery, Anomalous Origin Of, Familial
Anomalous origin of right pulmonary artery from ascending aorta, Patent foramen ovale, Patent duc... OMIM:610338
Anemia, Congenital Dyserythropoietic, Type Ib
Anisocytosis, Splenomegaly, Hepatomegaly, Jaundice, Anemia, Erythroid hyperplasia, Reticulocytosi... OMIM:615631
Ovarian Dysgenesis 2
Gonadal hypoplasia, Abnormality of the uterus, Premature ovarian insufficiency, Hypergonadotropic... OMIM:300510
Fryns Syndrome
Tetralogy of Fallot, Abnormal aortic arch morphology, Hydronephrosis, Hypospadias, Multicystic ki... ORPHA:2059
B-Cell Expansion With Nfkb And T-Cell Anergy
Splenomegaly, Increased B cell count OMIM:616452
Branchiootorenal Syndrome 1
Renal agenesis, Renal malrotation, Polycystic kidney dysplasia, Renal dysplasia, Renal steatosis,... OMIM:113650
Beckwith-Wiedemann Syndrome
Hepatoblastoma, Nephrocalcinosis, Renal cortical cysts, Enlarged kidney, Nephrolithiasis, Cryptor... OMIM:130650
Mullerian Aplasia And Hyperandrogenism
Unilateral renal agenesis, Aplasia of the uterus, Aplasia of the vagina, Aplasia/Hypoplasia of th... OMIM:158330
Alg12-Cdg
Patent foramen ovale, Patent ductus arteriosus, Micropenis, Biventricular hypertrophy, Muscular v... ORPHA:79324
Thakker-Donnai Syndrome
Hydronephrosis, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries ORPHA:1780
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Ventriculomegaly With Cystic Kidney Disease
Vascular dilatation, Renal corticomedullary cysts, Ventricular septal defect, Renal insufficiency OMIM:219730
Phosphoribosylpyrophosphate Synthetase Superactivity
Abnormal aortic morphology, Cardiomyopathy, Renal insufficiency ORPHA:3222
Basel-Vanagaite-Smirin-Yosef Syndrome
Hydronephrosis, Hypospadias, Abnormal cardiac septum morphology OMIM:616449
Diaphanospondylodysostosis
Enlarged kidney, Cystic renal dysplasia, Nephrogenic rest, Abnormal liver lobulation, Nephroblast... OMIM:608022
Coproporphyria, Hereditary
Splenomegaly, Hepatomegaly, Jaundice, Increased urinary porphobilinogen, Elevated urinary delta-a... OMIM:121300
Absence Of The Pulmonary Artery
Tetralogy of Fallot, Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, Coarct... ORPHA:980
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Harderoporphyria
Red urine, Splenomegaly, Hepatomegaly, Increased urinary porphobilinogen, Increased urine hardero... OMIM:618892
Combined Saposin Deficiency
Splenomegaly, Hepatomegaly OMIM:611721
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
Aortic Aneurysm, Familial Thoracic 6
Moyamoya phenomenon, Thoracic aortic aneurysm, Descending aortic dissection, Aortic aneurysm, Asc... OMIM:611788
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Proteinuria, Macroscopic hematuria, Membranoproliferative glomerulonephritis, Ep... ORPHA:251004
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Renal hypoplasia, Renal cyst, Hypospadias, Polycystic kidney dysplasia OMIM:614091
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia ORPHA:721
Floating-Harbor Syndrome
Epididymal cyst, Renal agenesis, Tetralogy of Fallot, Nephrocalcinosis, Mesocardia, Renal cyst, A... ORPHA:2044
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Inc... OMIM:617514
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Severe Generalized Junctional Epidermolysis Bullosa
Renal cyst, Urinary retention, Dysuria, Hydronephrosis, Ureterocele, Alopecia, Nail dystrophy, Mu... ORPHA:79404
Renpenning Syndrome
Heterotaxy, Hypospadias ORPHA:3242
Ciliary Dyskinesia, Primary, 14
Heterotaxy, Situs inversus totalis OMIM:613807
Junctional Epidermolysis Bullosa With Pyloric Atresia
Urinary bladder inflammation, Congenital pyloric atresia, Hematuria, Renal duplication, Hydroneph... ORPHA:79403
Ellis Van Creveld Syndrome
Hydroureter, Abnormality of the ureter, Renal hypoplasia/aplasia, Cryptorchidism, Abnormal hair m... ORPHA:289
Congenital Bile Acid Synthesis Defect Type 1
Splenomegaly, Hepatomegaly, Jaundice, Biliary tract abnormality, Cirrhosis, Neonatal cholestatic ... ORPHA:79301
Sandhoff Disease
Splenomegaly, Hepatomegaly ORPHA:796
Atrial Septal Defect 1
Atrial septal defect, Subvalvular aortic stenosis, Atrial septal dilatation, Ventricular septal d... OMIM:108800
Aortic Arch Interruption
Aortic valve atresia, Patent ductus arteriosus, Aortopulmonary window, Double outlet right ventri... ORPHA:2299
Immunodeficiency 14A, Autosomal Dominant
T lymphocytopenia, Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B... OMIM:615513
Orofaciodigital Syndrome Xv
Hydronephrosis OMIM:617127
Aortic Aneurysm, Familial Thoracic 8
Abdominal aortic aneurysm, Descending aortic dissection, Coronary artery aneurysm, Ascending aort... OMIM:615436
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Dysplastic tricuspid valve, Hydronephrosis, Hypoplastic left heart, Ventricular septal defect, At... OMIM:265380
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Splenomegaly, Hepatomegaly, Anemia, Hypersplenism, Thrombocytopenia OMIM:610539
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst OMIM:614870
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Primary Hyperoxaluria Type 2
Nephrocalcinosis, Nephrolithiasis, Recurrent urinary tract infections, Ureteral obstruction, Rena... ORPHA:93599
15Q11.2 Microdeletion Syndrome
Tetralogy of Fallot, Total anomalous pulmonary venous return, Atrial septal defect, Coarctation o... ORPHA:261183
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Overriding aorta, Abnormal aortic arch morphology, Arteriovenous malformation ORPHA:1110
Spherocytosis, Type 5
Splenomegaly, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis OMIM:612690
Bardet-Biedl Syndrome 4
Renal cyst, Abnormality of the kidney OMIM:615982
Mayer-Rokitansky-K├╝ster-Hauser Syndrome
Unilateral renal agenesis, Aplasia of the uterus, Ectopic kidney, Horseshoe kidney, Hypoplasia of... ORPHA:3109
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Glomerulonephritis, Splenomegaly, ... OMIM:619375
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Anisocytosis, Hepatomegaly, Jaundice, Splenomegaly, Anemia, Elevated hepatic ... OMIM:616860
Meckel Syndrome 12
Renal agenesis, Renal hypoplasia, Bifid uvula, Ureteral hypoplasia OMIM:616258
Faciocardiorenal Syndrome
Cryptorchidism, Horseshoe kidney, Cleft palate, Hydroureter OMIM:227280
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Varicose veins, Peripheral arterial stenosis, Ventricular septal defect, Patent ductus arteriosus OMIM:126320
Kleefstra Syndrome
Tetralogy of Fallot, Renal cyst, Micropenis, Hydronephrosis, Hypoplasia of penis, Coarctation of ... ORPHA:261494
Isolated Dandy-Walker Malformation
Tetralogy of Fallot ORPHA:217
Peutz-Jeghers Syndrome
Esophageal neoplasm, Abnormality of the ureter, Neoplasm of the rectum, Neoplasm of the colon, En... ORPHA:2869
46,Xx Ovotesticular Disorder Of Sex Development
Small scrotum, Polycystic ovaries, Abnormal morphology of female internal genitalia, Cryptorchidi... ORPHA:2138
Renal Agenesis
Unilateral renal agenesis, Renal agenesis, Proteinuria, Bilateral renal agenesis, Ureteral agenes... ORPHA:411709
Uterus Bicornis Bicollis With Partial Vaginal Septum And Unilateral Hematocolpos With Ipsilateral Renal Agenesis
Partial vaginal septum, Uterus didelphys, Hematocolpos, Renal agenesis OMIM:192050
Anemia, Congenital Dyserythropoietic, Type Ia
Poikilocytosis, Splenomegaly, Anisocytosis, Prolonged neonatal jaundice, Erythroid hyperplasia, R... OMIM:224120
10Q22.3Q23.3 Microduplication Syndrome
Tetralogy of Fallot, Hypospadias ORPHA:276422
Niemann-Pick Disease, Type B
Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells, Thrombocytopenia, Sea-blue histiocytosis OMIM:607616
Adams-Oliver Syndrome 6
Renal hypoplasia, Ventricular septal defect, Truncus arteriosus OMIM:616589
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal aortic morphology, Abnormal tricuspid valve morphology, Ventricular septal defect ORPHA:3405
Tuberous Sclerosis Complex
Renal angiomyolipoma, Renal cyst, Pulmonary lymphangiomyomatosis, Cardiac rhabdomyoma, Abnormalit... ORPHA:805
Congenital Disorder Of Glycosylation, Type Ik
Splenomegaly, Hepatomegaly, Hypogonadism OMIM:608540
Silver-Russell Syndrome 1
Abnormality of the ureter, Testicular seminoma, Congenital posterior urethral valve, Nephroblasto... OMIM:180860
46,Xy Sex Reversal 11
Aplasia of the uterus, Abnormal internal genitalia, Vanishing testis, Urogenital sinus anomaly, G... OMIM:273250
Criss-Cross Heart
Abnormal mitral valve morphology, Tricuspid stenosis, Pulmonic stenosis, Mitral stenosis, Ventric... ORPHA:1461
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia ORPHA:231401
Follicular Lymphoma
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly, Abnormality of the peritoneum ORPHA:545
Posterior Urethral Valve
Fetal pyelectasis, Pyelonephritis, Urinary retention, Enuresis nocturna, Dysuria, Hydronephrosis,... ORPHA:93110
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Splenomegaly, Hepatomegaly OMIM:616719
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Cryptorchidism, Abnormal vagina morphology, Gonadoblastoma, Abnormality of the uterus, Nephroblas... OMIM:194072
X-Linked Intellectual Disability, Schimke Type
Hydronephrosis, Vesicoureteral reflux ORPHA:85285
Beaulieu-Boycott-Innes Syndrome
Renal agenesis, Horseshoe kidney, Patent ductus arteriosus, Recurrent urinary tract infections, V... OMIM:613680
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Atrial septal defect, Hydronephrosis, Ventricular septal defect, Patent ductus arteriosus ORPHA:457193
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Hepatic fibrosis OMIM:619658
Baraitser-Winter Cerebrofrontofacial Syndrome
Hydronephrosis, Highly arched eyebrow, Abnormality of the upper urinary tract, Hydroureter, Low p... ORPHA:2995
Myopathy, Congenital, Progressive, With Scoliosis
Hydronephrosis, Renal atrophy OMIM:618578
Joubert Syndrome 35
Multicystic kidney dysplasia, Hydronephrosis, Recurrent urinary tract infections, Renal fibrosis OMIM:618161
Congenital Disorder Of Glycosylation, Type Iig
Hydronephrosis, Left ventricular hypertrophy, Hypospadias, Renal insufficiency OMIM:611209
Erythrocytosis, Familial, 8
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... OMIM:222800
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Splenomegaly ORPHA:664
Progressive Familial Intrahepatic Cholestasis
Jaundice, Splenomegaly, Hepatomegaly, Cholestasis ORPHA:172
22Q11.2 Deletion Syndrome
Abnormal pulmonary valve morphology, Tetralogy of Fallot, Abnormal aortic arch morphology, Occipi... ORPHA:567
Diets-Jongmans Syndrome
Heterotaxy, Hypospadias, Ventricular septal defect, Interrupted inferior vena cava with azygous c... OMIM:618846
Chand Syndrome
Curly hair, Bifid tongue, Cleft palate, Hydroureter ORPHA:1401
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Azoospermia, Splenomegaly, Hepatomegaly, Cirrhosis OMIM:602390
Cryohydrocytosis
Reticulocytosis, Splenomegaly, Hemolytic anemia, Stomatocytosis OMIM:185020
Developmental Delay With Or Without Dysmorphic Facies And Autism
Renal cyst, Patent foramen ovale, Patent ductus arteriosus, Hydronephrosis, Renal hypoplasia, Coa... OMIM:618454
X-Linked Intellectual Disability, Nascimento Type
Tetralogy of Fallot, Patent foramen ovale, Patent ductus arteriosus, Micropenis, Double outlet ri... ORPHA:163956
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst OMIM:174050
Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:98293
Leydig Cell Hypoplasia
Hyoplasia of the Leydig cells, Aplasia of the uterus, Female hypogonadism, Micropenis, Cryptorchi... ORPHA:755
Distal Monosomy 12Q
Ectopic kidney, Congenital hypertrophy of left ventricle, Patent foramen ovale, Patent ductus art... ORPHA:96149
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Hemophagocytosis, Splenomegaly, Anemia, Lymphadenopathy, Thrombocytopenia OMIM:613101
46,Xx Sex Reversal 5
Hypoplastic left heart, Urogenital sinus anomaly, Ventricular septal defect, Secundum atrial sept... OMIM:618901
Vici Syndrome
Death in infancy, Renal tubular acidosis, Ureteral atresia, High palate ORPHA:1493
Dysplastic Cortical Hyperostosis
Abnormality of the urinary system, Splenomegaly, Hepatomegaly ORPHA:2204
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Cryptorchidism, Hydronephrosis, Supernumerary nipple, Hypoplasia of penis, ... ORPHA:373
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Patent foramen ovale, Patent ductus arteriosus, Nephrolithiasis, Atrial septal defect, Hydronephr... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Patent foramen ovale, Patent ductus arteriosus, Nephrolithiasis, Atrial septal defect, Hydronephr... ORPHA:353277
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Splenomegaly, Acanthocytosis, Hepatomegaly, ... OMIM:616689
Ochoa Syndrome
Hydronephrosis, Urethral obstruction, Recurrent urinary tract infections, Renal insufficiency, Ur... ORPHA:2704
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anisocytosis, Reduced red cell pyruvate kinase level, Anemia, Prolonged neonatal ja... ORPHA:766
Hydrocephaly-Low Insertion Umbilicus Syndrome
Tetralogy of Fallot, Abnormality of the urinary system, Patent ductus arteriosus, Anomalous pulmo... ORPHA:2184
White-Kernohan Syndrome
Rectovaginal fistula, Horseshoe kidney, Long eyelashes, Hydronephrosis, Thick eyebrow, Broad medi... OMIM:619426
Cholestasis-Lymphedema Syndrome
Splenomegaly, Hepatomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease OMIM:214900
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Wolcott-Rallison Syndrome
Atrial septal defect, Chronic kidney disease, Double outlet right ventricle, Renal insufficiency ORPHA:1667
Suleiman-El-Hattab Syndrome
Atrial septal defect, Hydronephrosis, Ventricular septal defect, Patent foramen ovale OMIM:618950
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Fair hair, High palate, Rectovestibular fistula, Anal stenosis, Hydronephrosis, Anal atresia, Syn... ORPHA:280633
Cholestasis-Lymphedema Syndrome
Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice, Abnormality of urine homeostasis, Bili... ORPHA:1414
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Abnormality of the ureter, Polycystic ovaries, Abnormal hair pattern, Renal hypoplasia/aplasia, C... ORPHA:1770
Meckel Syndrome, Type 1
Renal agenesis, Abnormality of the ureter, Patent ductus arteriosus, Coarctation of aorta, Polycy... OMIM:249000
Immunodeficiency 32B
Splenomegaly OMIM:226990
Femoral-Facial Syndrome
Renal agenesis, Micropenis, Pulmonic stenosis, Polycystic kidney dysplasia, Ventricular septal de... OMIM:134780
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Anal atresia, Intestinal malrotation, Rectovaginal fistula, Ureteral duplication OMIM:270420
Timothy Syndrome
Tetralogy of Fallot, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect, C... OMIM:601005
Epidermolysis Bullosa Simplex With Pyloric Atresia
Congenital pyloric atresia, Glomerular sclerosis, Renal duplication, Hydronephrosis, Scarring alo... ORPHA:158684
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Muscular ventricular septal defect OMIM:618569
Tetraamelia Syndrome 2
Micropenis, Ventricular septal defect, Hypoplastic pulmonary veins OMIM:618021
Aortic Valve Disease 3
Atrial septal defect, Aortic valve stenosis, Bicuspid aortic valve, Aortic root aneurysm OMIM:618496
Arima Syndrome
Occipital meningocele, Nephronophthisis, Polycystic kidney dysplasia, Tubulointerstitial fibrosis... OMIM:243910
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Meckel Syndrome, Type 4
Atrial septal defect, Renal cyst, Meningocele, Ventricular septal defect OMIM:611134
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Unilateral renal agenesis, Cryptorchidism, Supernumerary nipple, Bilateral renal agenesis, Macrog... OMIM:619194
Orofaciodigital Syndrome I