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 vitreous body morphology Slit2em1(IMPC)Mbp HET Early adult 7.12×10-05
abnormal placenta morphology Slit2em1(IMPC)Mbp HET E15.5 0.00
abnormal spleen morphology Slit2em1(IMPC)Mbp HET Early adult 0.00
preweaning lethality, complete penetrance Slit2em1(IMPC)Mbp HOM   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
enlarged kidney Slit2em1(IMPC)Mbp HET Early adult 0.00
abnormal placenta morphology Slit2em1(IMPC)Mbp HOM E15.5 0.00
hydrometra Slit2em1(IMPC)Mbp HET Early adult 0.00
microphthalmia Slit2em1(IMPC)Mbp HET E15.5 0.00
abnormal placenta vasculature Slit2em1(IMPC)Mbp HET E15.5 0.00
cataract Slit2em1(IMPC)Mbp HET Early adult 7.52×10-05

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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

Gross Morphology Embryo E14.5-E15.5

Images

3 Images

MicroCT E14.5-E15.5

Embryo reconstruction

7 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
Transposition of the great arteries, Hypospadias, Right aortic arch, Renal cyst, Double outlet ri... OMIM:231060
Renal Caliceal Diverticuli-Deafness Syndrome
Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Hydronephrosis, A... ORPHA:2838
Fallot Complex With Severe Mental And Growth Retardation
Pulmonic stenosis, Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot OMIM:601127
Polycystic Kidney Disease 5
Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly, Hyperechogenic kidneys, Reduced... OMIM:617610
Nephronophthisis 16
Situs inversus totalis, Enlarged kidney, Nephronophthisis, Polycystic kidney dysplasia, Hypertrop... OMIM:615382
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Congenital Primary Megaureter
Congenital megaureter, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithiasis... ORPHA:617
Nephronophthisis 14
Situs inversus totalis, Nephronophthisis, Polycystic kidney dysplasia OMIM:614844
Congenital Anomalies Of Kidney And Urinary Tract 2
Hydroureter, Congenital megaureter, Renal hypoplasia, Ureteropelvic junction obstruction, Hydrone... OMIM:143400
Congenital Heart Defects, Multiple Types, 7
Right aortic arch, Absence of the pulmonary valve, Pulmonary artery atresia, Double aortic arch, ... OMIM:618780
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, 3-Methylglutaconic aciduria, Splenomegaly OMIM:619813
Cardiac Septal Defects With Coarctation Of The Aorta
Perimembranous ventricular septal defect, Secundum atrial septal defect, Coarctation of aorta OMIM:212090
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect, Hypoplastic left heart OMIM:614474
Cayler Cardiofacial Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus OMIM:125520
Heterotaxy, Visceral, 12, Autosomal
Pulmonic stenosis, Discordant atrioventricular connection, Patent foramen ovale, Left Isomerism, ... OMIM:619702
Hepatorenocardiac Degenerative Fibrosis
Cirrhosis, Jaundice, Enlarged kidney, Tubular luminal dilatation, Hepatocellular carcinoma, Renal... OMIM:619902
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Tetralogy of Fallot, Bicuspid aortic valve, Atrial septal defect, Ventricu... OMIM:617912
Congenital Heart Defects, Multiple Types, 6
Transposition of the great arteries, Hypoplastic pulmonary veins, Right aortic arch, Pulmonary ar... OMIM:613854
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Unilateral renal agenesis, Anomalous origin of left coronary artery from the pulmonary artery, Bi... OMIM:618845
Heterotaxy, Visceral, 6, Autosomal
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Right aortic arch, Tot... OMIM:614779
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary... OMIM:615285
Atrioventricular Septal Defect, Susceptibility To, 2
Right aortic arch with mirror image branching, Atrioventricular canal defect, Pulmonary artery at... OMIM:606217
Urofacial Syndrome 1
Hydroureter, Urethral obstruction, Recurrent urinary tract infections, Enuresis, Urethral valve, ... OMIM:236730
Heterotaxy, Visceral, 8, Autosomal
Atrial situs ambiguous, Congenitally corrected transposition of the great arteries with ventricul... OMIM:617205
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydronephrosis, Hydroureter OMIM:264140
Aorta Coarctation
Perimembranous ventricular septal defect, Cardiomegaly, Hypoplastic aortic arch, Abnormal left ve... ORPHA:1457
Ciliary Dyskinesia, Primary, 40
Situs inversus totalis, Atrioventricular canal defect, Patent ductus arteriosus, Right aortic arc... OMIM:618300
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Hydronephrosis, Duplicated collecting system OMIM:163850
8P23.1 Duplication Syndrome
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot, Hydronephrosis ORPHA:251076
Thymic-Renal-Anal-Lung Dysplasia
Renal agenesis, Ureteral dysgenesis, Ureteral agenesis, Anal atresia OMIM:274265
Vesicoureteral Reflux 3
Hydroureter, Recurrent urinary tract infections, Grade III vesicoureteral reflux, Ureteropelvic j... OMIM:613674
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Humero-Radio-Ulnar Synostosis
Abnormality of the upper urinary tract, Abnormality of the ureter ORPHA:3266
Congenital Heart Defects, Multiple Types, 4
Atrioventricular canal defect, Aortic valve stenosis, Coarctation of aorta, Tetralogy of Fallot, ... OMIM:615779
Ventricular Septal Defect 1
Atrioventricular canal defect, Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Vent... OMIM:614429
Autosomal Dominant Coarctation Of Aorta
Abnormal aortic arch morphology, Aortic arch aneurysm, Patent ductus arteriosus, Ventricular sept... ORPHA:1455
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Hypospadias, Hypertrophic cardiomyopathy, Cardiomegaly,... OMIM:620135
Heterotaxy, Visceral, 7, Autosomal
Hypoplasia of right ventricle, Situs inversus totalis, Transposition of the great arteries, Abnor... OMIM:616749
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect OMIM:618782
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia, Right aortic ar... OMIM:613751
Immunodeficiency, Common Variable, 6
Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Abnormal T cell count, Mesangial Immu... OMIM:613496
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Mitral valve prolapse, Cerebral berry aneurysm, Hepatic cysts, Renal... OMIM:173900
Megabladder, Congenital
Stage 5 chronic kidney disease, Multiple glomerular cysts, Fetal megacystis, Left ventricular non... OMIM:618719
Cardiac Valvular Dysplasia 1
Left atrial enlargement, Pulmonic stenosis, Mitral valve prolapse, Hypoplasia of right ventricle,... OMIM:212093
Tricuspid Atresia
Hypoplasia of right ventricle, Transposition of the great arteries, Tricuspid atresia, Patent for... ORPHA:1209
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Right aor... OMIM:620642
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract, Hepatomegaly ORPHA:79281
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydronephrosis, Hydroureter, Death in infancy OMIM:618240
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Vascular ring, Patent ductus arteriosus, Overriding aorta, Atrial septal defect, Ventricular sept... OMIM:601927
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
Intestinal malrotation, Hydroureter, Fetal megacystis OMIM:249210
Conotruncal Heart Malformations
Transposition of the great arteries, Truncus arteriosus, Coarctation of aorta, Double outlet righ... OMIM:217095
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hydroureter, Hypoplasia of penis, Abnormality of the bladder, Abnormality of the upper urinary tr... ORPHA:2547
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Renal insufficiency, Cardiomyopathy, Nephropathy, Atrial septal... ORPHA:1909
Prune Belly Syndrome
Hydroureter, Renal insufficiency, Abnormality of the bladder, Recurrent urinary tract infections,... ORPHA:2970
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Pyloric stenosis, Vesicoureteral reflux, Hydroureter, Nephrolithiasis OMIM:617219
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Congenital Megacalycosis
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... ORPHA:93109
Ring Chromosome 8 Syndrome
Hydronephrosis, Low posterior hairline, Abnormality of the ureter ORPHA:1450
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Renal Dysplasia
Enlarged kidney, Urinary incontinence, Renal hypoplasia/aplasia, Abnormal nephron morphology, Ure... ORPHA:93108
Birk-Aharoni Syndrome
Muscular ventricular septal defect, Micropenis, Duplicated collecting system OMIM:620071
Partial Atrioventricular Septal Defect
Abnormal tricuspid valve morphology, Heterotaxy, Bacterial endocarditis, Coronary sinus enlargeme... ORPHA:1330
Renal Tubular Dysgenesis
Proximal tubulopathy, Nephropathy, Tetralogy of Fallot, Multiple renal cysts, Renotubular dysgenesis ORPHA:3033
Renal Hypodysplasia/Aplasia 3
Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Renal dysplasia, Multicystic kidney dyspla... OMIM:617805
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal ventriculoarterial connection, Abnormal coronary artery morphology, Abnormal aortic arch... ORPHA:860
Polycystic Kidney Disease 7
Multiple renal cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal insuffic... OMIM:620056
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Hepatic cysts, Dilatation of the cerebral artery OMIM:600666
Bardet-Biedl Syndrome 19
Partial atrioventricular canal defect, Renal hypoplasia, Hydronephrosis, Patent ductus arteriosus... OMIM:615996
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Congenital Heart Defects, Multiple Types, 9
Arteria lusoria, Transposition of the great arteries, Truncus arteriosus, Pulmonary artery atresi... OMIM:620294
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Interrupted aortic arch, Right aortic arch, Truncus arteriosus, Renal cyst, Te... OMIM:617478
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Muscular ventricular septal defect OMIM:620203
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve, Pseudocoarctation of the aorta, Patent ductus arteriosus ORPHA:228190
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Abnormality of the kidney, Perimembranous ventricular septal defect, Muscular ventricular septal ... ORPHA:363444
Ciliary Dyskinesia, Primary, 52
Situs inversus totalis, Transposition of the great arteries, Patent ductus arteriosus, Patent for... OMIM:620570
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia, Vascular dilatation OMIM:614859
Ritscher-Schinzel Syndrome 1
Hypospadias, Pulmonic stenosis, Aortic valve stenosis, Hydronephrosis, Tetralogy of Fallot, Doubl... OMIM:220210
Lower Limb Malformation-Hypospadias Syndrome
Hypospadias, Abnormality of the ureter ORPHA:2487
Prune Belly Syndrome
Hydroureter, Anal atresia, Hydronephrosis, Congenital posterior urethral valve, Cryptorchidism, X... OMIM:100100
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Renal hypoplasia/aplasia, Vesicoureteral reflux, Abnormal aortic morphology, Tetralogy of Fallot,... ORPHA:1166
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydroureter, Fetal megacystis, Microcolon, Neonatal death, Hydronephrosis OMIM:619362
Microphthalmia/Coloboma 4
Microphthalmia OMIM:251505
Aortic Valve Disease 1
Ventricular septal defect, Aortic valve stenosis, Mitral stenosis, Tetralogy of Fallot, Aortic va... OMIM:109730
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia OMIM:178370
Galactosemia Iv
Cataract, Prolonged neonatal jaundice, Hepatomegaly OMIM:618881
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Recombinant Chromosome 8 Syndrome
Pulmonic stenosis, Hydronephrosis, Tetralogy of Fallot, Patent ductus arteriosus, Double outlet r... OMIM:179613
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Situs inversus totalis, Dextrocardia, Polycystic kidney dysplasia, Recurrent urinary tract infect... OMIM:613095
Galactosemia Ii
Cataract, Prolonged neonatal jaundice, Galactosuria OMIM:230200
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Heterotaxy, Visceral, 5, Autosomal
Atrioventricular canal defect, Ureteral duplication, Double inlet left ventricle, Dextrocardia, P... OMIM:270100
Gombo Syndrome
Microphthalmia OMIM:233270
Wolfram Syndrome, Mitochondrial Form
Hydronephrosis, Hydroureter OMIM:598500
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Ventricular septal defect, Vascular ring OMIM:603387
Testicular Anomalies With Or Without Congenital Heart Disease
Corpus cavernosum hypoplasia, Perineal hypospadias, Tetralogy of Fallot, Microphallus OMIM:615542
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Congenital Anomalies Of Kidney And Urinary Tract 3
Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl... OMIM:618270
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect OMIM:619170
Nephronophthisis 3
Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re... OMIM:604387
Bladder Exstrophy And Epispadias Complex
Epispadias, Hydroureter, Unilateral renal agenesis, Bladder exstrophy, Anteriorly placed anus, Ho... OMIM:600057
Distal Triplication 15Q
Abnormality of the kidney, Hypoplastic aortic arch, Polycystic kidney dysplasia, Abnormal heart m... ORPHA:314588
Mungan Syndrome
Pulmonic stenosis, Renal hypoplasia, Perimembranous ventricular septal defect, Vesicoureteral reflux OMIM:611376
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Bicuspid aortic valve, Pseudocoarctation of the aorta, Patent ductus arteriosus OMIM:604381
Renal Dysplasia, Cystic, Susceptibility To
Vesicoureteral reflux, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Cystic renal... OMIM:601331
Meckel Syndrome, Type 8
Pericardial effusion, Enlarged kidney, Hyperechogenic kidneys, Polycystic kidney dysplasia OMIM:613885
Double Outlet Right Ventricle
Heterotaxy, Truncus arteriosus, Pulmonary artery atresia, Pulmonic stenosis, Coarctation of aorta... ORPHA:3426
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Coarctation Of Aorta
Coarctation of aorta, Hypoplastic left heart OMIM:120000
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Polycystic kidne... OMIM:263200
Cardiomyopathy, Dilated, 2D
Muscular ventricular septal defect, Patent foramen ovale, Perinuclear cardiomyocyte vacuolization... OMIM:619371
Aa Amyloidosis
Acute kidney injury, Enlarged kidney, Hepatomegaly, Abnormality of the kidney, Cholestasis, Nephr... ORPHA:85445
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Peripheral pulmonary artery stenosis, Ventricular septal defect, Tetralogy of Fallot OMIM:617992
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Isomerism, Partial anomalous pulmonary venous return, Dextrocardia, Patent ductus arteriosus, Ven... OMIM:619657
Diabetic Embryopathy
Transposition of the great arteries, Renal hypoplasia/aplasia, Ureteral duplication, Abnormal aor... ORPHA:1926
Galactose Epimerase Deficiency
Jaundice, Hepatomegaly, Splenomegaly, Cataract, Aminoaciduria ORPHA:79238
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Right aortic arch, Dextrocardia OMIM:617577
22Q11.2 Duplication Syndrome
Transposition of the great arteries, Interrupted aortic arch, Hydronephrosis, Tetralogy of Fallot... ORPHA:1727
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Alagille Syndrome 2
Hematuria, Renal tubular acidosis, Renal cyst, Pulmonic stenosis, Renal hypoplasia, Tetralogy of ... OMIM:610205
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Arteria lusoria, Anomalous origin of left pulmonary artery from ascending aorta, Transposition of... ORPHA:99050
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Renal hypoplasia/aplasia, Hydroureter, Urogenital sinus anomaly, Tracheoesophageal fistula, Anal ... ORPHA:2973
Meacham Syndrome
Enlarged kidney, Transposition of the great arteries, Dextrocardia, Cardiac total anomalous pulmo... OMIM:608978
Feingold Syndrome Type 1
Abnormality of the kidney, Tricuspid atresia, Interrupted aortic arch, Vesicoureteral reflux, Tri... ORPHA:391641
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Perimembranous ventricular septal defect, Coarctation of aorta, Secundum atrial septal defect, At... OMIM:600987
Microphthalmia/Coloboma 7
Microphthalmia OMIM:614497
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
16P13.11 Microduplication Syndrome
Transposition of the great arteries, Coarctation of aorta, Tetralogy of Fallot, Atrial septal def... ORPHA:261243
Denys-Drash Syndrome
Ambiguous genitalia, male, Enlarged kidney, Gonadal dysgenesis, Focal segmental glomerulosclerosi... OMIM:194080
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Hydronephrosis, Abnormality of the urinary system ORPHA:2669
Whim Syndrome 2
Tetralogy of Fallot OMIM:619407
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged kidney, Enlarged polycystic ovaries, Polycystic ovaries ORPHA:90301
Corneal Dystrophy, Groenouw Type I
Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy OMIM:121900
Morm Syndrome
Cataract, Abnormality of the kidney, Retinal atrophy, Micropenis ORPHA:75858
Nephronophthisis 20
Nephronophthisis, Vesicoureteral reflux, Renal cyst, Stage 5 chronic kidney disease, Renal insuff... OMIM:617271
Ureter, Bifid Or Double
Ureteral duplication OMIM:191550
Hypoplastic Left Heart Syndrome
Patent ductus arteriosus, Hypoplastic aortic arch, Mitral stenosis, Mitral atresia, Atrial septal... ORPHA:2248
Scimitar Syndrome
Mitral atresia, Abnormal heart morphology, Interrupted inferior vena cava with azygous continuati... ORPHA:185
Noonan Syndrome 9
Sparse eyebrow, Cryptorchidism, Hydroureter, Curly hair OMIM:616559
Thomas Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Hypoplastic left heart ORPHA:3316
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Bilateral superior vena... OMIM:306955
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst OMIM:615987
Hemoglobin H Disease
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia OMIM:613978
Microphthalmia/Coloboma 5
Bilateral microphthalmos, Microphthalmia, Anophthalmia OMIM:611638
Atresia Of Urethra
Hydroureter, Recurrent urinary tract infections, Dilatation of the bladder, Vesicoureteral reflux... ORPHA:105
Caudal Duplication Anomaly
Ureteral duplication OMIM:607864
Adenine Phosphoribosyltransferase Deficiency
Hematuria, Nephrolithiasis, Urolithiasis, Oliguria, Renal insufficiency, 2,8-dihydroxyadenine cry... OMIM:614723
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Anemia, Hepatosplenomegaly OMIM:273680
Microphthalmia/Coloboma 3
Microphthalmia OMIM:610092
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Urinary incontinence, Aortic aneurysm, Multiple muscular ventricular septal defects, Pericardial ... OMIM:620070
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular septal hypertrophy, Muscular ventricular septal defect, Stroke, Ventricular hypertrop... OMIM:115197
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Microphthalmia/Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Ureterocele
Ureterocele, Duplicated collecting system OMIM:191650
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Polycystic kidney dysplasia, Hepatic cysts, Stage 5 chronic... OMIM:618061
Cataract 42
Cataract, Developmental cataract OMIM:115900
Mandibulofacial Dysostosis With Alopecia
Hydroureter, Glossoptosis, Sparse eyelashes, Cleft palate, Alopecia OMIM:616367
Heart Defects, Congenital, And Other Congenital Anomalies
Perimembranous ventricular septal defect, Transposition of the great arteries, Total absence of t... OMIM:600001
Bardet-Biedl Syndrome 18
Cataract, Stage 5 chronic kidney disease, Renal insufficiency OMIM:615995
Igg4-Related Aortitis
Abnormal aortic arch morphology, Thoracic aortic aneurysm, Ascending tubular aorta aneurysm, Aort... ORPHA:449400
Heterotaxy, Visceral, 2, Autosomal
Situs inversus totalis, Atrioventricular canal defect, Transposition of the great arteries, Mesoc... OMIM:605376
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Splenomegaly, Stage 5 c... OMIM:208540
Cloacal Exstrophy
Renal hypoplasia/aplasia, Hydroureter, Ectopic kidney, Hypoplasia of penis, Intestinal duplicatio... ORPHA:93929
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Enlarged kidney, Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia... OMIM:314390
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia OMIM:183350
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydroureter, Microcolon, Intestinal malrotation, Hydronephrosis, Megacystis OMIM:619431
Microphthalmia, Syndromic 9
Renal malrotation, Right aortic arch with mirror image branching, Hypoplastic left atrium, Pelvic... OMIM:601186
Aorto-Ventricular Tunnel
Aortic root aneurysm, Abnormal heart valve morphology, Ventricular hypertrophy, Abnormal aortic m... ORPHA:3400
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Congenital Gerbode Defect
Perimembranous ventricular septal defect, Vascular dilatation, Abnormal tricuspid valve leaflet m... ORPHA:99095
Trisomy 17P
Patent ductus arteriosus, Hypoplasia of penis, Polycystic kidney dysplasia, Aortic valve stenosis... ORPHA:261290
Infundibulopelvic Dysgenesis
Microscopic hematuria, Multicystic kidney dysplasia OMIM:600989
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Heterotaxy OMIM:601086
Renal Hypoplasia
Abnormal renal tubule morphology, Unilateral renal agenesis, Pelvic kidney, Recurrent urinary tra... ORPHA:93101
Truncus Arteriosus
Pulmonic stenosis, Abnormal heart morphology, Cardiomegaly, Transposition of the great arteries, ... ORPHA:3384
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Hydroureter, Death in infancy, Intestinal malrotation, Microcolon, Megacystis, Cryptorchidism, Mu... ORPHA:2241
Tetrasomy 15Q26
Hypoplastic aortic arch, Hydronephrosis, Patent ductus arteriosus, Atrial septal defect, Horsesho... OMIM:614846
Nephronophthisis 19
Hepatomegaly, Nephronophthisis, Cholestasis, Bile duct proliferation, Hyperechogenic kidneys, Spl... OMIM:616217
Congenital Heart Defects, Multiple Types, 2
Myxomatous mitral valve degeneration, Aortic aneurysm, Aortic valve stenosis, Tetralogy of Fallot... OMIM:614980
Nephronophthisis 2
Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Renal cortical microcyst... OMIM:602088
Right Atrial Isomerism
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Pulmonary artery atres... OMIM:208530
Nanophthalmos
Microphthalmia ORPHA:35612
Cardiomyopathy, Dilated, 1S
Perimembranous ventricular septal defect, Ebstein anomaly of the tricuspid valve, Pulmonary arter... OMIM:613426
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Pulmonic stenosis, Discordant atrioventricular connection, Abnormal heart morphology,... ORPHA:216694
Nanophthalmos 4
Microphthalmia OMIM:615972
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Muscular ventricular septal defect OMIM:620062
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Aortic aneurysm, Abnormal renal morphology, Patent foramen ovale, Persistent left superior vena c... ORPHA:477817
Hyperparathyroidism 2 With Jaw Tumors
Renal cortical adenoma, Polycystic kidney dysplasia, Nephrolithiasis, Papillary renal cell carcin... OMIM:145001
Ventricular Septal Defect 3
Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:614432
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Laubry-Pezzi Syndrome
Perimembranous ventricular septal defect, Patent ductus arteriosus, Subarterial ventricular septa... ORPHA:99094
Skraban-Deardorff Syndrome
Right aortic arch, Ventricular septal defect OMIM:617616
Fliedner-Zweier Syndrome
Unilateral renal agenesis, Hypoplastic aortic arch, Hydronephrosis, Bicuspid aortic valve, Ventri... OMIM:620511
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Coarctation of aorta, Hypoplastic left heart OMIM:241550
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Pulmonic stenosis, Perimembranous ventricular septal defect, Transposition of the great arteries OMIM:617877
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst, Dilatation of the cerebral artery OMIM:174050
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Velocardiofacial Syndrome
Right aortic arch with mirror image branching, Interrupted aortic arch, Pulmonary artery atresia,... OMIM:192430
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Hepatomegaly, Cholestasis, Asplenia, Hepatic cysts, Hepatic fibrosis, Malformati... OMIM:615415
Sandestig-Stefanova Syndrome
Perimembranous ventricular septal defect, Muscular ventricular septal defect OMIM:618804
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Parachute mitral valve, Hypospadias, Patent foramen ovale, Pulmonary artery atresia, Tetralogy of... OMIM:618316
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis... ORPHA:730
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Persistent left superior vena cava, Pulmonic stenosis, Tetralogy of Fallot, Patent ductus arterio... ORPHA:3304
Adams-Oliver Syndrome 4
Microphthalmia, Umbilical hernia OMIM:615297
Familial Visceral Myopathy
Aganglionic megacolon, Hydroureter, Vesicoureteral reflux, Cleft palate, Megacystis, Hyperparathy... ORPHA:2604
Czeizel-Losonci Syndrome
Congenital megaureter, Hypoplastic nipples, High palate, Tracheoesophageal fistula, Ureteral agen... ORPHA:2437
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Bardet-Biedl Syndrome 16
Renal cyst, Renal agenesis, Renal dysplasia, Stage 5 chronic kidney disease, Renal insufficiency OMIM:615993
Fetal Encasement Syndrome
Increased urinary 8-oxo-7,8-dihydroguanosine level, Tetralogy of Fallot, Horseshoe kidney OMIM:613630
Familial Aortic Dissection
Mucoid extracellular matrix accumulation, Patent ductus arteriosus, Descending thoracic aorta ane... ORPHA:229
Caudal Duplication
Renal hypoplasia/aplasia, Ureteral duplication, Abnormal penis morphology, Intestinal duplication... ORPHA:1756
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Hanac Syndrome
Hematuria, Multiple renal cysts, Renal insufficiency ORPHA:73229
Senior-Loken Syndrome
Nephronophthisis, Abnormality of retinal pigmentation, Congenital hepatic fibrosis, Chronic kidne... ORPHA:3156
Phenobarbital Embryopathy
Abnormal mitral valve morphology, Tetralogy of Fallot, Hypospadias ORPHA:1919
Amyloidosis, Familial Visceral
Hepatomegaly, Hematuria, Cholestasis, Nephrotic syndrome, Splenomegaly, Proteinuria, Renal amyloi... OMIM:105200
Wolfram Syndrome 1
Neurogenic bladder, Hydronephrosis, Hydroureter, Testicular atrophy OMIM:222300
Tyrosinemia Type 1
Splenomegaly, Hepatomegaly, Hepatocellular carcinoma, Generalized aminoaciduria ORPHA:882
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Hydroureter, Hypercalciuria, High palate, Renal cyst, Ureteral stenosis, Nephrocalcinosis OMIM:615398
Congenital Tracheomalacia
Patent ductus arteriosus, Right aortic arch, Double aortic arch, Abnormal heart morphology, Tetra... ORPHA:95430
Snijders Blok-Campeau Syndrome
Pulmonic stenosis, Atrial septal defect, Perimembranous ventricular septal defect OMIM:618205
Congenital Disorder Of Glycosylation, Type Ih
Perimembranous ventricular septal defect, Patent ductus arteriosus OMIM:608104
Aortic Aneurysm, Familial Thoracic 4
Coronary artery atherosclerosis, Stroke, Ascending tubular aorta aneurysm, Posterior cerebral art... OMIM:132900
Gillessen-Kaesbach-Nishimura Syndrome
Polycystic kidney dysplasia, Abnormal heart morphology OMIM:263210
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Hepatomegaly, Splenomegaly OMIM:606445
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Ectopic kidney, Optic disc pallor, Cataract, Cryptorchidism, Cystic renal dysplasia OMIM:613730
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,... ORPHA:439
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Hypouricemia, Renal, 1
Acute kidney injury, Renal tubular epithelial necrosis, Uric acid nephrolithiasis, Renal cortical... OMIM:220150
Congenital Disorder Of Glycosylation, Type Il
Pericardial effusion, Atrial septal defect, Polycystic kidney dysplasia OMIM:608776
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
You-Hoover-Fong Syndrome
Coarctation of aorta, Vascular ring, Double aortic arch OMIM:616954
Nephrogenic Diabetes Insipidus
Hydroureter, Hyposthenuria, Enuresis nocturna, Functional abnormality of the bladder, Renal insuf... ORPHA:223
Intellectual Developmental Disorder, X-Linked 112
Ectopic kidney, Hypospadias, Horseshoe kidney, Enuresis nocturna, Vesicoureteral reflux, Right ao... OMIM:301111
Anterior Segment Dysgenesis 8
Optic nerve dysplasia, Iris transillumination defect, Microphakia, Iridodonesis, Corneal stromal ... OMIM:617319
Trimethylaminuria
Trimethylaminuria, Anemia, Splenomegaly, Neutropenia OMIM:602079
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... OMIM:603902
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract, Renal tubular dysfunction ORPHA:1380
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Abnormality of the ureter, Renal hypoplasia/aplasia, Hypospadias, Hypoplasia of penis ORPHA:1046
Cataract-Microcornea Syndrome
Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma ORPHA:1377
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Unilateral renal agenesis, Patent foramen ovale, Renal hypoplasia, Coarctation of aorta, Abnormal... OMIM:618494
Fryns Microphthalmia Syndrome
Microphthalmia, Neural tube defect, Anophthalmia OMIM:600776
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Atrioventricular canal defect, Aortic valve stenosis, Hydronephrosis, Te... ORPHA:210122
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Renal insufficiency, Renal cyst, Dilatation of the cerebral artery, Lacunar stroke, Re... OMIM:611773
Maternal Phenylketonuria
Abnormal renal morphology, Coarctation of aorta, Abnormal heart morphology, Tetralogy of Fallot, ... ORPHA:2209
Macdermot-Winter Syndrome
Hydronephrosis OMIM:247990
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Ventricular septal defect, Hydronephrosis OMIM:607598
Houge-Janssens Syndrome 3
Atrial septal defect, Muscular ventricular septal defect OMIM:618354
Mckusick-Kaufman Syndrome
Renal hypoplasia/aplasia, Patent ductus arteriosus, Glandular hypospadias, Urogenital sinus anoma... ORPHA:2473
Immunodeficiency 16
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia OMIM:615593
Mucopolysaccharidosis-Plus Syndrome
Optic atrophy, Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Anemia, Focal seg... OMIM:617303
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas... OMIM:133180
Fanconi Anemia, Complementation Group O
Stage 5 chronic kidney disease, Abnormal heart morphology, Hydronephrosis, Renal cyst OMIM:613390
Atrial Septal Defect 2
Atrioventricular canal defect, Dextrocardia, Pulmonic stenosis, Patent ductus arteriosus, Atrial ... OMIM:607941
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Ventricular septal defect, Unilateral renal agenesis OMIM:601355
Megalocornea
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... OMIM:309300
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Renal agenesis, Muscular ventricular septal defect, Unilateral renal agenesis OMIM:619227
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Enlarged kidney OMIM:618272
Meacham Syndrome
Situs inversus totalis, Transposition of the great arteries, Hypoplasia of penis, Ventricular sep... ORPHA:3097
Codas Syndrome
Hydroureter ORPHA:1458
Kaposiform Lymphangiomatosis
Enlarged kidney, Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnorma... ORPHA:464329
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Chromosome 9P Deletion Syndrome
Perimembranous ventricular septal defect, Hypospadias, Patent ductus arteriosus, Atrial septal de... OMIM:158170
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Ureteral duplication, Antenatal intracerebral hemorrhage, Long-chain dicarboxyli... OMIM:608836
Cataract 50 With Or Without Glaucoma
Retinal detachment, Persistent pupillary membrane, Cataract OMIM:620253
Kallmann Syndrome-Heart Disease Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Right aortic arch, Pulmonary ... ORPHA:2326
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Nail dystrophy, Ureterocele, Sparse axillary hair, Urethral stenosis, Decreased response to growt... OMIM:604292
Femoral-Facial Syndrome
Polycystic kidney dysplasia, Abnormal localization of kidney, Renal hypoplasia/aplasia, Long penis ORPHA:1988
Polysyndactyly With Cardiac Malformation
Hepatic cysts, Atrial septal defect, Ventricular septal defect, Renal cyst OMIM:263630
Hyperbilirubinemia, Shunt, Primary
Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid... OMIM:237800
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Stillbirth, Renal cyst, Renal hypoplasia, Neonatal death, Ureteral agenesis, Renal dysplasia OMIM:236500
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Sotos Syndrome
Abnormality of the kidney, Muscular ventricular septal defect, Patent ductus arteriosus, Atrial s... OMIM:117550
6P22 Microdeletion Syndrome
Hydronephrosis, Patent ductus arteriosus ORPHA:251046
Ciliary Dyskinesia, Primary, 44
Heterotaxy OMIM:618781
Bardet-Biedl Syndrome 12
Hydronephrosis, Hydroureter, Cystic renal dysplasia OMIM:615989
Hadziselimovic Syndrome
Ventricular hypertrophy, Pulmonary artery atresia, Renal hypoplasia, Tetralogy of Fallot, Atrial ... OMIM:612946
Isolated Polycystic Liver Disease
Vascular dilatation, Multiple renal cysts ORPHA:2924
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Polycystic kidney dysplasia, Renal angiomyolipoma OMIM:600273
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hypospadias, Duplicated collecting system, Vesicoureteral reflux, Pulmonary artery atresia, Pulmo... OMIM:301056
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Vascular dilatation, Focal segmental glomerulosclerosis, Renal cyst, Chronic kidney disease, Neph... OMIM:617056
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Urofacial Syndrome 2
Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Urinary urgency, Hydronephro... OMIM:615112
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope... ORPHA:444463
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Pulmonary artery atresia, Secundum atrial septal defect, Tetralogy of Fallot, Left ventricular hy... OMIM:108900
Hoxha-Aliu Syndrome
Atrial septal defect, Perimembranous ventricular septal defect, Hydronephrosis, Vesicoureteral re... OMIM:620662
Immunodeficiency 104
Splenomegaly, Hepatomegaly, Lymphadenopathy, T lymphocytopenia OMIM:608971
Multicystic Dysplastic Kidney
Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r... ORPHA:1851
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Moyamoya phenomenon, Abnormal left ventricle morphology, Premature coronary artery atherosclerosi... OMIM:300845
Mu-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Bence Jones Proteinuria, Splenomegaly, Abnormal B cell cou... ORPHA:100024
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Hinman Syndrome
Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Hydronephrosis, Renal insuff... ORPHA:84085
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal tubular epithelial necrosis, Dicarboxylic aciduria, Myoglobinuria, Polycystic kidney dyspla... ORPHA:228308
Dilated Cardiomyopathy With Ataxia
3-Methylglutaconic aciduria, Muscular ventricular septal defect, Hypoplasia of penis, Dilated car... ORPHA:66634
Fibromuscular Dysplasia, Arterial
Aortic dissection, Renovascular hypertension, Stroke, Arterial fibromuscular dysplasia OMIM:135580
Mayer-Rokitansky-Kuster-Hauser Syndrome
Abnormal female external genitalia morphology, Aplasia of the upper vagina, Hypoplasia of the ute... OMIM:277000
Fetal Trimethadione Syndrome
Transposition of the great arteries, Hypospadias, Tetralogy of Fallot, Atrial septal defect, Vent... ORPHA:1913
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Transketolase Deficiency
Increased level of ribose in urine, Patent foramen ovale, Renal cyst, Abnormal coronary artery co... ORPHA:488618
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Fava bean-induced hemolytic anemia, Reduced erythrocyte glutathione reductase activity OMIM:618660
Pallister-Hall Syndrome
Decreased response to growth hormone stimulation test, Hydroureter, Ectopic kidney, Panhypopituit... OMIM:146510
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Galactosemia Iii
Jaundice, Hepatomegaly, Galactosuria, Splenomegaly, Aminoaciduria OMIM:230350
Cataract 9, Multiple Types
Microcornea, Progressive cataract, Developmental cataract, Cataract, Iris coloboma OMIM:604219
Campomelia, Cumming Type
Polycystic kidney dysplasia, Pancreatic cysts OMIM:211890
Epidermal Nevus Syndrome
Polycystic kidney dysplasia, Aortic aneurysm ORPHA:35125
Carnitine Palmitoyltransferase Ii Deficiency
Renal tubular epithelial necrosis, Myoglobinuria, Polycystic kidney dysplasia, Red-brown urine, C... ORPHA:157
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria, Hepatomegaly, Splenomegaly ORPHA:417
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Hematuria, Retinal detachment, Corneal opacity, Posterior embryotoxon, Cataract, I... ORPHA:1473
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Hepatomegaly, Splenomegaly OMIM:619462
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia, Frontal encephalocele OMIM:218670
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Perimembranous ventricular septal defect, Atrioventricular canal defect, Hypospadias, Pelvic kidn... ORPHA:508498
Congenital Heart Defects, Multiple Types, 3
Persistent left superior vena cava, Atrial septal defect, Abnormal heart morphology, Tetralogy of... OMIM:614954
Primary Ciliary Dyskinesia
Situs inversus totalis, Transposition of the great arteries, Abnormal atrial arrangement, Abnorma... ORPHA:244
Syndromic Diarrhea
Polycystic kidney dysplasia, Renal hypoplasia, Abnormal heart morphology, Tetralogy of Fallot, Pa... ORPHA:84064
Phelan-Mcdermid Syndrome
Abnormality of the kidney, Polycystic kidney dysplasia, Vesicoureteral reflux, Patent ductus arte... OMIM:606232
Trisomy 1Q
Congenital megaureter, Anal atresia, Cleft palate, Hydronephrosis, Cryptorchidism, Multicystic ki... ORPHA:261344
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia OMIM:618852
Joubert Syndrome 18
Ventricular septal defect, Horseshoe kidney, Renal cyst OMIM:614815
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Polycystic kidney dysplasia, Cardiomyopathy, Ethylmalonic aciduria, 3-Methylgl... ORPHA:26791
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Coarctation of aorta, Mitral valve prolapse, Bicuspid aortic valve, Atrial septal defect, Ventric... ORPHA:371428
Microphthalmia, Lenz Type
Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Hydronephrosis, Cryptorchidism ORPHA:568
Glycogen Storage Disease Ib
Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Hepatocellular... OMIM:232220
Cat Eye Syndrome
Tricuspid atresia, Vesicoureteral reflux, Total anomalous pulmonary venous return, Pulmonic steno... OMIM:115470
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hypospadias, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithiasis, Aortic v... ORPHA:353281
Cat-Eye Syndrome
Renal hypoplasia/aplasia, Hydronephrosis, Abnormal localization of kidney ORPHA:195
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Hypospadias, Recurrent urinary tract infections, Neurogenic bladder, Vesicoureteral reflux, Hydro... OMIM:191800
Marden-Walker Syndrome
Epispadias, Abnormality of the kidney, Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Abnorm... ORPHA:2461
H Syndrome
Corneal arcus, Abnormality of the kidney, Enlarged kidney, Lymphadenopathy, Azoospermia, Decrease... ORPHA:168569
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Polycystic kidney dysplasia, Vesicoureteral reflux, Abnormal heart mor... ORPHA:2237
Carpenter Syndrome 1
Hydroureter, Hydronephrosis, High palate, Cryptorchidism OMIM:201000
Aortic Aneurysm, Familial Thoracic 7
Aortic rupture, Ascending aortic dissection, Descending aortic dissection, Aortic aneurysm OMIM:613780
Peroxisome Biogenesis Disorder 12A (Zellweger)
Double outlet right ventricle, Atrial septal defect, Patent ductus arteriosus, Renal tubular dysf... OMIM:614886
Caudal Regression Syndrome
Ureteral duplication, Ectopic kidney, Vesicoureteral reflux, Anal atresia, Abnormality of the ure... ORPHA:3027
Penile Agenesis
Rectal fistula, Hydroureter, Abnormality of the bladder, Bilateral renal agenesis, Anal atresia, ... ORPHA:49
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hematuria, Chronic kidney disease, Unilateral renal dysplasia, Aplasia of the vagina, Aplasia of ... OMIM:146255
Ventriculomegaly With Cystic Kidney Disease
Tubular luminal dilatation, Vascular dilatation, Hyperechogenic kidneys, Ventricular septal defec... OMIM:219730
Joubert Syndrome 39
Polycystic kidney dysplasia, Hypoplastic left heart OMIM:619562
Ventriculomegaly With Defects Of The Radius And Kidney
Renal agenesis, Ureteral duplication, Horseshoe kidney, Ectopic kidney OMIM:602200
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Ureterocele, Sparse axillary hair, Sparse hair, Decreased response to growth hormone stimulation ... OMIM:129900
Ciliary Dyskinesia, Primary, 20
Situs inversus totalis, Dextrocardia, Persistent left superior vena cava, Aortic valve stenosis, ... OMIM:615067
Leber Congenital Amaurosis 1
Hepatomegaly, Optic disc drusen, Keratoconus, Hyperthreoninuria, Cataract, Pigmentary retinopathy OMIM:204000
Odontochondrodysplasia 1
Polycystic kidney dysplasia, Nephronophthisis OMIM:184260
Mckusick-Kaufman Syndrome
Aganglionic megacolon, Hydroureter, Rectovaginal fistula, Vesicovaginal fistula, Polycystic kidne... OMIM:236700
Yuan-Harel-Lupski Syndrome
Bicuspid aortic valve, Ventricular septal defect, Double outlet right ventricle, Aortic root aneu... OMIM:616652
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Perimembranous ventricular septal defect, Hypospadias, Renal agenesis, Hydronephrosis, Ventricula... OMIM:301040
Cataract 47
Cataract, Glycosuria, Microcornea OMIM:612018
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Congenital Disorder Of Glycosylation, Type Iie
Neurogenic bladder, Perimembranous ventricular septal defect, Secundum atrial septal defect, Hydr... OMIM:608779
Foveal Hypoplasia 2
Microphthalmia, Hypoplasia of the fovea OMIM:609218
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2
Cataract, Mesangial hypercellularity, Nephrotic syndrome, Focal segmental glomerulosclerosis OMIM:620425
Meckel Syndrome, Type 7
Situs inversus totalis, Multiple glomerular cysts, Pancreatic cysts, Aortic valve stenosis, Right... OMIM:267010
Bladder Exstrophy
Epispadias, Hypoplasia of penis, Recurrent urinary tract infections, Vesicoureteral reflux, Abnor... ORPHA:93930
Peroxisome Biogenesis Disorder 2A (Zellweger)
Polycystic kidney dysplasia, Abnormal heart morphology, Aminoaciduria OMIM:214110
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Grange Syndrome
Ventricular septal defect, Arterial stenosis, Patent ductus arteriosus ORPHA:79094
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly... OMIM:603552
Verheij Syndrome
Truncus arteriosus, Renal cyst, Renal agenesis, Renal hypoplasia, Ventricular septal defect OMIM:615583
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Polycystic kidney dysplasia, ... OMIM:231680
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Hydroureter, Thick hair, Highly arched eyebrow, Hirsutism, High palate, Laterally extended eyebro... OMIM:610759
Isotretinoin-Like Syndrome
Abnormal aortic arch morphology, Abnormal cardiac ventricle morphology, Abnormality of the pulmon... ORPHA:2306
Cholestasis, Progressive Familial Intrahepatic, 12
Jaundice, Hepatomegaly, Cholestasis, Proteinuria, Splenomegaly OMIM:620010
Coats Disease
Retinal detachment, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris, Cataract ORPHA:190
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Tetralogy of Fallot, Hypospadias, Hypoplasia of penis ORPHA:1381
Raine Syndrome
Hydroureter, Highly arched eyebrow, High palate, Death in infancy, Protruding tongue, Cleft palat... OMIM:259775
Peroxisome Biogenesis Disorder 11B
Cataract, Hepatosplenomegaly OMIM:614885
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Hepatomegaly, Cystic renal dysplasia, Ascites, Hepatic fibrosis, Pancreatic fibr... OMIM:200995
Trisomy X
Renal hypoplasia/aplasia, Atrial septal defect, Ventricular septal defect, Multicystic kidney dys... ORPHA:3375
Silver-Russell Syndrome 1
Decreased response to growth hormone stimulation test, Hypospadias, Testicular seminoma, Abnormal... OMIM:180860
Autosomal Recessive Polycystic Kidney Disease
Enlarged kidney, Cholestasis, Ascites, Biliary hyperplasia, Splenomegaly, Oliguria, Abnormal intr... ORPHA:731
3C Syndrome
Atrioventricular canal defect, Abnormal tricuspid valve morphology, Hypospadias, Hypoplasia of pe... ORPHA:7
Penoscrotal Transposition
Penoscrotal transposition, Hypospadias, Abnormality of the ureter, Renal agenesis, Renal dysplasi... ORPHA:2842
Trisomy 13
Abnormality of the ureter, Hydronephrosis, Displacement of the urethral meatus, Multiple renal cy... ORPHA:3378
Encephalocraniocutaneous Lipomatosis
Pelvic kidney, Hydronephrosis, Atrial septal defect, Ventricular septal defect, Peripheral pulmon... OMIM:613001
Oeis Complex
Epispadias, Hydroureter, Rectovaginal fistula, Vesicovaginal fistula, Duplicated collecting syste... OMIM:258040
Severe Generalized Junctional Epidermolysis Bullosa
Renal tubular epithelial necrosis, Nail dystrophy, Hydroureter, Multicystic kidney dysplasia, Dup... ORPHA:79404
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatomegaly, Hepatic steatosis, Splenomegaly OMIM:614480
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Hepatomegaly, Myeloproliferative disorder, Splenomegaly OMIM:607685
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Hydronephrosis, Patent ductus arteriosus OMIM:619797
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Branchiootorenal Syndrome 1
Renal steatosis, Abnormal renal collecting system morphology, Unilateral renal agenesis, Polycyst... OMIM:113650
Tyrosinemia, Type I
Elevated urinary delta-aminolevulinic acid, Cirrhosis, Hepatomegaly, Anemia, Enlarged kidney, Glo... OMIM:276700
Fryns Syndrome
Hypospadias, Abnormal aortic arch morphology, Vesicoureteral reflux, Abnormal aortic morphology, ... ORPHA:2059
Image Syndrome
Hydronephrosis, Hypospadias ORPHA:85173
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Methimazole Embryofetopathy
Coarctation of aorta, Ventricular septal defect, Abnormal aortic morphology, Hypospadias ORPHA:1923
Ciliary Dyskinesia, Primary, 14
Situs inversus totalis, Heterotaxy OMIM:613807
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension OMIM:610293
Craniotelencephalic Dysplasia
Frontal encephalocele, Microphthalmia, Septo-optic dysplasia ORPHA:1528
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract, Hypogonadism OMIM:254000
Aortic Arch Interruption
Transposition of the great arteries, Patent ductus arteriosus, Aortic valve atresia, Aortopulmona... ORPHA:2299
Junctional Epidermolysis Bullosa With Pyloric Atresia
Nail dystrophy, Hematuria, Aplasia of the bladder, Congenital pyloric atresia, Ureterocele, Hydro... ORPHA:79403
Diaphanospondylodysostosis
Enlarged kidney, Abnormal liver lobulation, Nephroblastomatosis, Nephrogenic rest, Horseshoe kidn... OMIM:608022
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Hydroureter, Rectovaginal fistula, Pelvic kidney, Vesicoureteral reflux, Anal atresia, Hydronephr... OMIM:300707
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Aniridia, Hypospadias, Renal insufficiency, Abnormal vagina morphology, Cryptorchidism, Abnormali... OMIM:194072
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:269600
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Phaver Syndrome
Coarctation of aorta, Ventricular septal defect, Pulmonary artery atresia, Hypoplastic aortic arch ORPHA:2876
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly ORPHA:66661
Mmep Syndrome
Microphthalmia ORPHA:3434
Congenital Total Pulmonary Venous Return Anomaly
Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o... ORPHA:99125
Aortic Valve Disease 3
Aortic root aneurysm, Aortic valve stenosis, Ascending aortic dissection, Bicuspid aortic valve, ... OMIM:618496
Absence Of The Pulmonary Artery
Patent foramen ovale, Truncus arteriosus, Abnormal inferior vena cava morphology, Right aortic ar... ORPHA:980
Alg12-Cdg
Muscular ventricular septal defect, Hypospadias, Patent foramen ovale, Patent ductus arteriosus, ... ORPHA:79324
Beta-Mercaptolactate Cysteine Disulfiduria
High palate, Abnormality of the ureter ORPHA:1035
Renpenning Syndrome
Hypospadias, Heterotaxy ORPHA:3242
Amyloidosis, Finnish Type
Nephrotic syndrome, Urolithiasis, Renal glomerular amyloid deposition, Stage 5 chronic kidney dis... OMIM:105120
Hemihyperplasia-Multiple Lipomatosis Syndrome
Enlarged kidney, Abnormality of the lymphatic system, Nephroblastoma, Ovarian serous cystadenoma,... ORPHA:276280
Fish-Eye Disease
Splenomegaly, Hepatomegaly, Corneal opacity, Lymphadenopathy ORPHA:79292
Phosphoribosylpyrophosphate Synthetase Superactivity
Abnormal aortic morphology, Cardiomyopathy, Renal insufficiency ORPHA:3222
Ellis Van Creveld Syndrome
Epispadias, Abnormality of the kidney, Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Abnorm... ORPHA:289
Splenoportal Vascular Anomalies
Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis OMIM:271500
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Microcornea, Remnants of the hyaloid vascular system, Iris coloboma ORPHA:231736
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Lens subluxation, Lattice retinal degeneration, Cataract OMIM:614292
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... ORPHA:983
Bardet-Biedl Syndrome 4
Abnormality of the kidney, Renal cyst OMIM:615982
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polycystic kidney dysplasia, Renal hypoplasia, Hypospadias, Renal cyst OMIM:614091
Rubinstein-Taybi Syndrome 1
Perimembranous ventricular septal defect, Hypospadias, Patent foramen ovale, Aortic isthmus hypop... OMIM:180849
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia ORPHA:2528
Thakker-Donnai Syndrome
Ventricular septal defect, Transposition of the great arteries, Tetralogy of Fallot, Hydronephrosis ORPHA:1780
Renal Agenesis
Unilateral renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral renal agenesis, Anal atre... ORPHA:411709
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Overriding aorta, Arteriovenous malformation, Abnormal aortic arch morphology ORPHA:1110
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Igg4-Related Kidney Disease
Enlarged kidney, Sclerosing cholangitis, Cholecystitis, Urinary bladder inflammation, Acute kidne... ORPHA:449395
Immunodeficiency 84
B lymphocytopenia, Splenomegaly OMIM:619437
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Splenomegaly, Portal hypertension OMIM:617068
Hemochromatosis, Type 2B
Cirrhosis, Hepatomegaly, Anemia, Splenomegaly, Hypogonadism, Hepatic fibrosis OMIM:613313
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Atrial septal defect, Patent foramen ovale, Hydronephrosis, Patent ductus arteriosus OMIM:620327
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent foramen ovale, Anomalous origin of right pulmonary artery from ascending aorta, Coarctatio... OMIM:610338
Alport Syndrome 2, Autosomal Recessive
Hematuria, Corneal erosion, Renal insufficiency, Nephrotic syndrome, Thickened glomerular basemen... OMIM:203780
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Kleefstra Syndrome
Hypospadias, Hypoplasia of penis, Renal insufficiency, Vesicoureteral reflux, Renal cyst, Pulmona... ORPHA:261494
Cardiospondylocarpofacial Syndrome
Muscular ventricular septal defect, Hypoplastic aortic arch, Patent foramen ovale, Vesicoureteral... OMIM:157800
Baraitser-Winter Cerebrofrontofacial Syndrome
Hydroureter, Highly arched eyebrow, Low posterior hairline, Abnormality of the upper urinary trac... ORPHA:2995
Hereditary Leiomyomatosis And Renal Cell Cancer
Papillary renal cell carcinoma type 2, Vaginal neoplasm, Uterine leiomyosarcoma, Cataract, Uterin... ORPHA:523
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmune hemolytic anemia, Stage 5 chronic kidney disease, Hepatomegaly, Mediastinal lymphadeno... OMIM:615559
Primary Hyperoxaluria Type 2
Hyperoxaluria, Recurrent urinary tract infections, Nephrolithiasis, Ureteral obstruction, Nephroc... ORPHA:93599
Congenital Disorder Of Glycosylation, Type Iiaa
Patent ductus arteriosus after premature birth, Ventricular septal defect, Unilateral renal agene... OMIM:620454
Frontometaphyseal Dysplasia 1
Hydroureter, Hirsutism, High palate, Cleft palate, Hydronephrosis OMIM:305620
Atrial Septal Defect 1
Atrial septal dilatation, Persistent left superior vena cava, Aortic valve stenosis, Tetralogy of... OMIM:108800
Laurence-Moon Syndrome
Hypoplasia of penis, Congenital hepatic fibrosis, Displacement of the urethral meatus, Cataract, ... ORPHA:2377
Glycogen Storage Disease Ia
Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Hepatocellular... OMIM:232200
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Dilatation of the bladder, Dysplastic tricuspid valve, Bicuspid aortic valve, Dilatation of the r... OMIM:265380
Floating-Harbor Syndrome
Mesocardia, Hypospadias, Polycystic kidney dysplasia, Renal cyst, Persistent left superior vena c... ORPHA:2044
Developmental Delay, Language Impairment, And Ocular Abnormalities
Pulmonic stenosis, Hydronephrosis OMIM:620141
X-Linked Intellectual Disability, Schimke Type
Hydronephrosis, Vesicoureteral reflux ORPHA:85285
Immunodeficiency 69
Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy... OMIM:618963
Exfoliation Syndrome
Mydriasis, Phakodonesis, Iris hypoperfusion, Anisocoria, Pigment deposition in the trabecular mes... OMIM:177650
Suleiman-El-Hattab Syndrome
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Hydronephrosis OMIM:618950
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia OMIM:120433
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Cardiomegaly, Renal cortical cysts, Vesicoureteral reflux, Nephrol... OMIM:130650
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Tuberous Sclerosis Complex
Abnormality of the kidney, Cardiac rhabdomyoma, Aortic aneurysm, Polycystic kidney dysplasia, Ren... ORPHA:805
Peroxisome Biogenesis Disorder 6A (Zellweger)