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Gene: Slit2 MGI:1315205

Gene Summary

Name:

slit guidance ligand 2

Synonyms:

E130320P19Rik, E030015M03Rik, b2b1200.1Clo, Slil3, Drad-1

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

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	Allele	Zyg	Life Stage	P Value
abnormal kidney morphology	Slit2^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal spleen morphology	Slit2^em1(IMPC)Mbp	HET	Early adult	0.00
enlarged spleen	Slit2^em1(IMPC)Mbp	HET	Early adult	0.00
preweaning lethality, complete penetrance	Slit2^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal placenta vasculature	Slit2^em1(IMPC)Mbp	HET	E15.5	0.00
enlarged kidney	Slit2^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal placenta morphology	Slit2^em1(IMPC)Mbp	HET	E15.5	0.00
abnormal vitreous body morphology	Slit2^em1(IMPC)Mbp	HET	Early adult	1.68×10^-05
microphthalmia	Slit2^em1(IMPC)Mbp	HET	E15.5	0.00
hydrometra	Slit2^em1(IMPC)Mbp	HET	Early adult	0.00
cataract	Slit2^em1(IMPC)Mbp	HET	Early adult	1.88×10^-05
abnormal placenta morphology	Slit2^em1(IMPC)Mbp	HOM	E15.5	0.00

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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 Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

7 Images

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Gross Morphology Embryo E14.5-E15.5

Images

3 Images

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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.

Human diseases associated with Slit2 (0 diseases)
Human diseases predicted to be associated with Slit2 (1440 diseases)

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	Matching phenotypes	Source
Genitopalatocardiac Syndrome	Ventricular septal defect, Hypospadias, Renal cyst, Right aortic arch, Transposition of the great...	OMIM:231060
Renal Caliceal Diverticuli-Deafness Syndrome	Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th...	ORPHA:2838
Fallot Complex With Severe Mental And Growth Retardation	Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	OMIM:601127
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co...	OMIM:617610
Nephronophthisis 16	Renal insufficiency, Situs inversus totalis, Patent ductus arteriosus, Stage 5 chronic kidney dis...	OMIM:615382
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Congenital Primary Megaureter	Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t...	ORPHA:617
Nephronophthisis 14	Situs inversus totalis, Polycystic kidney dysplasia, Nephronophthisis	OMIM:614844
Congenital Heart Defects, Multiple Types, 7	Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s...	OMIM:618780
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete...	OMIM:143400
Cardiac Septal Defects With Coarctation Of The Aorta	Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta	OMIM:212090
Atrioventricular Septal Defect 5	Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart	OMIM:614474
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly, Cataract, 3-Methylglutaconic aciduria	OMIM:619813
Cayler Cardiofacial Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	OMIM:125520
Heterotaxy, Visceral, 12, Autosomal	Left Isomerism, Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septa...	OMIM:619702
Hepatorenocardiac Degenerative Fibrosis	Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosplenomegaly, Tubular luminal dil...	OMIM:619902
Aorta Coarctation	Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy...	ORPHA:1457
Congenital Heart Defects, Multiple Types, 5	Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ...	OMIM:617912
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a...	OMIM:613854
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Bicuspid aortic valve, Unilateral renal agenesis, Anomalous origin of left coronary artery from t...	OMIM:618845
Heterotaxy, Visceral, 6, Autosomal	Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast...	OMIM:614779
Atrioventricular Septal Defect, Susceptibility To, 2	Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran...	OMIM:606217
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Heterotaxy, Visceral, 8, Autosomal	Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm...	OMIM:617205
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness	Hydroureter, Hydronephrosis	OMIM:264140
Urofacial Syndrome 1	Recurrent urinary tract infections, Urethral valve, Hydroureter, Cryptorchidism, Urethral obstruc...	OMIM:236730
8P23.1 Duplication Syndrome	Tetralogy of Fallot, Ventricular septal defect, Hydronephrosis, Pulmonic stenosis	ORPHA:251076
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities	Duplicated collecting system, Hydronephrosis	OMIM:163850
Thymic-Renal-Anal-Lung Dysplasia	Ureteral agenesis, Ureteral dysgenesis, Renal agenesis, Anal atresia	OMIM:274265
Vesicoureteral Reflux 3	Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Hydroureter, Grade III vesico...	OMIM:613674
Congenital Heart Defects, Multiple Types, 4	Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A...	OMIM:615779
Humero-Radio-Ulnar Synostosis	Abnormality of the ureter, Abnormality of the upper urinary tract	ORPHA:3266
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Ventricular Septal Defect 1	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect...	OMIM:614429
Autosomal Dominant Coarctation Of Aorta	Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m...	ORPHA:1455
Fetal Cytomegalovirus Syndrome	Splenomegaly, Hepatomegaly, Anemia	ORPHA:294
Ciliary Dyskinesia, Primary, 40	Left Isomerism, Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted ...	OMIM:618300
Heterotaxy, Visceral, 7, Autosomal	Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl...	OMIM:616749
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypospadias, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypert...	OMIM:620135
Long Qt Syndrome 16	Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect	OMIM:618782
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Renal insufficiency, Hepatic cysts, Mitral valve prolapse, Polycystic kidney dysplasia, Cerebral ...	OMIM:173900
Tricuspid Atresia	Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s...	ORPHA:1209
Megabladder, Congenital	Multiple glomerular cysts, Ventricular septal defect, Bicuspid aortic valve, Left ventricular non...	OMIM:618719
Immunodeficiency, Common Variable, 6	Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me...	OMIM:613496
Cardiac Valvular Dysplasia 1	Arteria lusoria, Pulmonary artery atresia, Atrial septal defect, Patent foramen ovale, Pulmonic s...	OMIM:212093
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hepatomegaly, Cataract	ORPHA:79281
Ventricular Septal Defect 2	Perimembranous ventricular septal defect	OMIM:614431
Mitochondrial Complex I Deficiency, Nuclear Type 18	Death in infancy, Hydroureter, Hydronephrosis	OMIM:618240
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Conotruncal Heart Malformations	Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran...	OMIM:217095
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Atrial sept...	OMIM:601927
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Hypoplasia of penis, Hydroureter, Abnormality of the upper urinary tract, Duodenal stenosis, Abno...	ORPHA:2547
Indomethacin Embryofetopathy	Renal insufficiency, Multicystic kidney dysplasia, Ventricular septal defect, Cardiomyopathy, Atr...	ORPHA:1909
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1	Hydroureter, Fetal megacystis, Intestinal malrotation	OMIM:249210
Chromosome 19Q13.11 Deletion Syndrome, Proximal	Vesicoureteral reflux, Pyloric stenosis, Hydroureter, Nephrolithiasis	OMIM:617219
Ring Chromosome 8 Syndrome	Abnormality of the ureter, Hydronephrosis, Low posterior hairline	ORPHA:1450
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Prune Belly Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Hydroureter, Recurrent urinary tract infection...	ORPHA:2970
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Partial Atrioventricular Septal Defect	Bicuspid aortic valve, Transient ischemic attack, Coronary sinus enlargement, Partial atrioventri...	ORPHA:1330
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Renal Tubular Dysgenesis	Tetralogy of Fallot, Proximal tubulopathy, Multiple renal cysts, Nephropathy, Renotubular dysgenesis	ORPHA:3033
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Ventricular septal defect, Abnormal pulmonary valve morp...	ORPHA:860
Bardet-Biedl Syndrome 19	Renal insufficiency, Ventricular septal defect, Partial atrioventricular canal defect, Patent duc...	OMIM:615996
Polycystic Kidney Disease 7	Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i...	OMIM:620056
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Dilatation of the cerebral artery, Hepatic cysts, Polycystic kidney dysplasia	OMIM:600666
Renal Hypodysplasia/Aplasia 3	Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r...	OMIM:617805
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Congenital Heart Defects, Multiple Types, 9	Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl...	OMIM:620294
Birk-Aharoni Syndrome	Duplicated collecting system, Muscular ventricular septal defect, Micropenis	OMIM:620071
Structural Heart Defects And Renal Anomalies Syndrome	Renal insufficiency, Ventricular septal defect, Partial anomalous pulmonary venous return, Renal ...	OMIM:617478
Pulmonary Atresia With Ventricular Septal Defect	Pulmonary artery atresia, Ventricular septal defect	OMIM:178370
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Unilateral renal agen...	ORPHA:363444
Ritscher-Schinzel Syndrome 1	Ventricular septal defect, Hypospadias, Double outlet right ventricle, Hypoplastic left heart, Pu...	OMIM:220210
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Cardiomyopathy, Dilated, 2H	Secundum atrial septal defect, Muscular ventricular septal defect	OMIM:620203
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta	ORPHA:228190
Peroxisome Biogenesis Disorder 3A (Zellweger)	Vascular dilatation, Polycystic kidney dysplasia	OMIM:614859
Lower Limb Malformation-Hypospadias Syndrome	Abnormality of the ureter, Hypospadias	ORPHA:2487
Ciliary Dyskinesia, Primary, 39	Double outlet right ventricle, Dextrocardia	OMIM:618254
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Ventricular septal defect, Renal hypoplasia/aplasia, Abnormal aortic morphology, Multiple renal c...	ORPHA:1166
Prune Belly Syndrome	Hydroureter, Cryptorchidism, Xerostomia, Congenital posterior urethral valve, Hydronephrosis, Ana...	OMIM:100100
Galactosemia Ii	Cataract, Galactosuria, Prolonged neonatal jaundice	OMIM:230200
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, Microcolon, Megacystis, Fetal megacystis, Neonatal death, Hydronephrosis	OMIM:619362
Aortic Valve Disease 1	Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou...	OMIM:109730
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia	OMIM:251505
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation	Right aortic arch with mirror image branching	OMIM:107500
Recombinant Chromosome 8 Syndrome	Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Dou...	OMIM:179613
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	Recurrent urinary tract infections, Renal insufficiency, Dextrocardia, Situs inversus totalis, St...	OMIM:613095
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Wolfram Syndrome, Mitochondrial Form	Hydroureter, Hydronephrosis	OMIM:598500
Mitochondrial Complex I Deficiency, Nuclear Type 36	Perimembranous ventricular septal defect, Cardiomegaly	OMIM:619170
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Atrial septal defect, Ventricular septal defect, Vascular ring	OMIM:603387
Gombo Syndrome	Microphthalmia	OMIM:233270
Mungan Syndrome	Vesicoureteral reflux, Perimembranous ventricular septal defect, Renal hypoplasia, Pulmonic stenosis	OMIM:611376
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid	OMIM:206400
Testicular Anomalies With Or Without Congenital Heart Disease	Corpus cavernosum hypoplasia, Tetralogy of Fallot, Microphallus, Perineal hypospadias	OMIM:615542
RCAD (renal cysts and diabetes)	Multiple renal cysts	DECIPHER:47
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Heterotaxy, Visceral, 5, Autosomal	Ureteral duplication, Right atrial isomerism, Ureteral stenosis, Ventricular septal defect, Dextr...	OMIM:270100
Bladder Exstrophy And Epispadias Complex	Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Anteriorly placed anus, Bla...	OMIM:600057
Distal Triplication 15Q	Abnormality of the kidney, Patent ductus arteriosus, Hypoplastic aortic arch, Dilatation of the r...	ORPHA:314588
Double Outlet Right Ventricle	Ventricular septal defect, Double outlet right ventricle, Coarctation of aorta, Heterotaxy, Hypop...	ORPHA:3426
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta	OMIM:604381
Coarctation Of Aorta	Hypoplastic left heart, Coarctation of aorta	OMIM:120000
Meckel Syndrome, Type 8	Pericardial effusion, Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys	OMIM:613885
Renal Dysplasia, Cystic, Susceptibility To	Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal...	OMIM:601331
Meckel Syndrome, Type 11	Polycystic kidney dysplasia	OMIM:615397
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis	OMIM:617992
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe...	OMIM:263200
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Ventricular septal defect, Patent ductus arteriosus, Arteria lusoria, Abnormal aortic arch morpho...	ORPHA:99050
Diabetic Embryopathy	Ureteral duplication, Ventricular septal defect, Renal hypoplasia/aplasia, Abnormal aortic morpho...	ORPHA:1926
Cardiomyopathy, Dilated, 2D	Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal defect, Dilated cardiomyopat...	OMIM:619371
Aa Amyloidosis	Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Nephro...	ORPHA:85445
Ciliary Dyskinesia, Primary, 37	Situs inversus totalis, Right aortic arch, Dextrocardia	OMIM:617577
Galactose Epimerase Deficiency	Hepatomegaly, Cataract, Splenomegaly, Jaundice, Aminoaciduria	ORPHA:79238
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis...	OMIM:610205
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Meacham Syndrome	Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Partial...	OMIM:608978
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Patent ductus arteriosus, Part...	OMIM:619657
2p15-16.1 microdeletion syndrome	Hydronephrosis	DECIPHER:70
Feingold Syndrome Type 1	Renal dysplasia, Renal insufficiency, Tricuspid stenosis, Abnormality of the kidney, Patent ductu...	ORPHA:391641
22Q11.2 Duplication Syndrome	Ventricular septal defect, Urethral stenosis, Hypoplastic left heart, Transposition of the great ...	ORPHA:1727
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Anal atresia, Multicystic kidney dysplasia, Hydroureter, Intestinal malrotation, Renal hypoplasia...	ORPHA:2973
16P13.11 Microduplication Syndrome	Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept...	ORPHA:261243
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Ventricular septal defect, Secundum atrial septal defect, Coarctation of aorta, Perimembranous ve...	OMIM:600987
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia	OMIM:614497
Denys-Drash Syndrome	Diffuse mesangial sclerosis, True hermaphroditism, Septate vagina, Gonadal tissue inappropriate f...	OMIM:194080
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Abnormality of the urinary system, Hydronephrosis	ORPHA:2669
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Enlarged kidney, Polycystic ovaries	ORPHA:90301
Ureter, Bifid Or Double	Ureteral duplication	OMIM:191550
Whim Syndrome 2	Tetralogy of Fallot	OMIM:619407
Scimitar Syndrome	Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Patent ductus arteriosus, Pa...	ORPHA:185
Hypoplastic Left Heart Syndrome	Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial...	ORPHA:2248
Thomas Syndrome	Multicystic kidney dysplasia, Hypoplastic left heart, Renal hypoplasia/aplasia	ORPHA:3316
Corneal Dystrophy, Groenouw Type I	Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Nephronophthisis 20	Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral...	OMIM:617271
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c...	OMIM:306955
Heart Defects, Congenital, And Other Congenital Anomalies	Ureteral duplication, Double outlet left ventricle, Ventricular septal defect, Patent foramen ova...	OMIM:600001
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Anophthalmia, Bilateral microphthalmos	OMIM:611638
Caudal Duplication Anomaly	Ureteral duplication	OMIM:607864
Bardet-Biedl Syndrome 10	Renal insufficiency, Renal cyst	OMIM:615987
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Thanatophoric Dysplasia, Glasgow Variant	Cataract, Anemia, Hepatosplenomegaly	OMIM:273680
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Urinary incontinence, Pericardial effusion, Multiple muscular ventricular septal defects, Atrial ...	OMIM:620070
Tetralogy Of Fallot	Tetralogy of Fallot	OMIM:187500
Adenine Phosphoribosyltransferase Deficiency	2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ...	OMIM:614723
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia	OMIM:610092
Noonan Syndrome 9	Sparse eyebrow, Curly hair, Hydroureter, Cryptorchidism	OMIM:616559
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Dextrocardia, Urethral atresia, Isomerism, Transposition of the great arteries, Atrioventricular ...	OMIM:314390
Heterotaxy, Visceral, 2, Autosomal	Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Left atrial isomerism, Abdom...	OMIM:605376
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia	ORPHA:46532
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome...	OMIM:618061
Microphthalmia, Syndromic 9	Renal malrotation, Ventricular septal defect, Pulmonary artery atresia, Patent ductus arteriosus,...	OMIM:601186
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypert...	OMIM:208540
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Bardet-Biedl Syndrome 18	Renal insufficiency, Cataract, Stage 5 chronic kidney disease	OMIM:615995
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Transient ischemic attack, Cardiomegaly, Pericardial effusion, Muscular ...	OMIM:115197
Truncus Arteriosus	Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort...	ORPHA:3384
Congenital Disorder Of Glycosylation, Type Il	Pericardial effusion, Abnormal cardiac septum morphology, Polycystic kidney dysplasia	OMIM:608776
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Mandibulofacial Dysostosis With Alopecia	Alopecia, Hydroureter, Sparse eyelashes, Cleft palate, Glossoptosis	OMIM:616367
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Hydroureter, Intestinal malrotation, Megacystis, Hydronephrosis, Microcolon	OMIM:619431
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Ureterocele	Duplicated collecting system, Ureterocele	OMIM:191650
Laterality Defects, Autosomal Dominant	Situs inversus totalis, Heterotaxy	OMIM:601086
Aorto-Ventricular Tunnel	Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao...	ORPHA:3400
Meckel Syndrome 13	Polycystic kidney dysplasia	OMIM:617562
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo...	OMIM:602088
Igg4-Related Aortitis	Thoracic aortic aneurysm, Abnormal aortic arch morphology, Ascending tubular aorta aneurysm, Dila...	ORPHA:449400
Atresia Of Urethra	Renal dysplasia, Renal insufficiency, Hydroureter, Recurrent urinary tract infections, Bladder fi...	ORPHA:105
Cloacal Exstrophy	Hypoplasia of penis, Hydroureter, Intestinal malrotation, Ectopic kidney, Renal hypoplasia/aplasi...	ORPHA:93929
Right Atrial Isomerism	Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri...	OMIM:208530
Trisomy 17P	Hypoplasia of penis, Urethral valve, Patent ductus arteriosus, Urethral stenosis, Hypoplastic lef...	ORPHA:261290
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Congenital Gerbode Defect	Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Pu...	ORPHA:99095
Cardiomyopathy, Dilated, 1S	Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio...	OMIM:613426
Infundibulopelvic Dysgenesis	Multicystic kidney dysplasia, Microscopic hematuria	OMIM:600989
Tetrasomy 15Q26	Patent ductus arteriosus, Hypoplastic aortic arch, Horseshoe kidney, Atrial septal defect, Hydron...	OMIM:614846
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise...	OMIM:616217
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Death in infancy, Multicystic kidney dysplasia, Hydroureter, Intestinal malrotation, Cryptorchidi...	ORPHA:2241
Congenital Heart Defects, Multiple Types, 2	Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul...	OMIM:614980
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va...	ORPHA:216694
Nanophthalmos	Microphthalmia	ORPHA:35612
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia, Neural tube defect	OMIM:600776
Galactosemia Iv	Cataract, Prolonged neonatal jaundice	OMIM:618881
Ventricular Septal Defect 3	Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect	OMIM:614432
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
Hypoplastic Left Heart Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta	OMIM:241550
Nanophthalmos 4	Microphthalmia	OMIM:615972
Laubry-Pezzi Syndrome	Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu...	ORPHA:99094
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal renal morphology, Ab...	ORPHA:477817
Tetralogy Of Fallot And Glaucoma	Tetralogy of Fallot	OMIM:187501
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Perimembranous ventricular septal defect, Transposition of the great arteries, Pulmonic stenosis	OMIM:617877
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Skraban-Deardorff Syndrome	Right aortic arch, Ventricular septal defect	OMIM:617616
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Hyperparathyroidism 2 With Jaw Tumors	Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Nephroblastoma, Ren...	OMIM:145001
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ...	OMIM:615415
Velocardiofacial Syndrome	Ventricular septal defect, Interrupted aortic arch, Pulmonary artery atresia, Tetralogy of Fallot...	OMIM:192430
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Ventricular septal defect, Hypospadias, Parachute mitral valve, Patent ductus arteriosus, Atrial ...	OMIM:618316
Sandestig-Stefanova Syndrome	Muscular ventricular septal defect, Perimembranous ventricular septal defect	OMIM:618804
Megalocornea	Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris...	OMIM:309300
Bardet-Biedl Syndrome 16	Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Renal dysplasia	OMIM:615993
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Overriding aorta, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Double outle...	ORPHA:3304
Familial Aortic Dissection	Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Descending aortic dis...	ORPHA:229
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Czeizel-Losonci Syndrome	Tracheoesophageal fistula, Ureteral agenesis, Abnormality of the urinary system, Congenital megau...	ORPHA:2437
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic...	ORPHA:730
Fetal Encasement Syndrome	Tetralogy of Fallot, Increased urinary 8-oxo-7,8-dihydroguanosine level, Horseshoe kidney	OMIM:613630
Tyrosinemia Type 1	Splenomegaly, Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma	ORPHA:882
Adams-Oliver Syndrome 4	Microphthalmia, Umbilical hernia	OMIM:615297
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Phenobarbital Embryopathy	Abnormal mitral valve morphology, Tetralogy of Fallot, Hypospadias	ORPHA:1919
Wolfram Syndrome 1	Neurogenic bladder, Hydroureter, Testicular atrophy, Hydronephrosis	OMIM:222300
Aortic Aneurysm, Familial Thoracic 4	Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Bi...	OMIM:132900
You-Hoover-Fong Syndrome	Coarctation of aorta, Double aortic arch, Vascular ring	OMIM:616954
Senior-Loken Syndrome	Abnormality of retinal pigmentation, Cataract, Congenital hepatic fibrosis, Chronic kidney diseas...	ORPHA:3156
Hanac Syndrome	Hematuria, Renal insufficiency, Multiple renal cysts	ORPHA:73229
Familial Visceral Myopathy	Hyperparathyroidism, Hydroureter, Aganglionic megacolon, Megacystis, Cleft palate, Vesicoureteral...	ORPHA:2604
Congenital Disorder Of Glycosylation, Type Ih	Patent ductus arteriosus, Perimembranous ventricular septal defect	OMIM:608104
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Ureteral stenosis, Hydroureter, Hypercalciuria, Renal cyst, Nephrocalcinosis, High palate	OMIM:615398
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly	OMIM:619175
Gillessen-Kaesbach-Nishimura Syndrome	Polycystic kidney dysplasia, Abnormal heart morphology	OMIM:263210
Snijders Blok-Campeau Syndrome	Atrial septal defect, Perimembranous ventricular septal defect, Pulmonic stenosis	OMIM:618205
Caudal Duplication	Abnormal penis morphology, Ureteral duplication, Renal hypoplasia/aplasia, Cryptorchidism, Intest...	ORPHA:1756
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Nephrogenic Diabetes Insipidus	Renal insufficiency, Hydroureter, Functional abnormality of the bladder, Enuresis nocturna, Hypos...	ORPHA:223
Iris Pigment Layer, Cleavage Of	Cataract, Peripheral retinal detachment	OMIM:147610
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Hypouricemia, Renal, 1	Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co...	OMIM:220150
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Hepatomegaly, Lymphocytosis	OMIM:606445
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Abnormality of the ureter, Hypospadias, Renal hypoplasia/aplasia	ORPHA:1046
Maternal Phenylketonuria	Ventricular septal defect, Abnormal renal morphology, Abnormal heart morphology, Coarctation of a...	ORPHA:2209
Cataract-Nephropathy-Encephalopathy Syndrome	Renal tubular dysfunction, Cataract	ORPHA:1380
Morm Syndrome	Micropenis, Cataract, Abnormality of the kidney, Retinal atrophy	ORPHA:75858
Congenital Alveolar Capillary Dysplasia	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Pulmonary valve atres...	ORPHA:210122
Trimethylaminuria	Trimethylaminuria, Splenomegaly, Anemia, Neutropenia	OMIM:602079
Isolated Right Ventricular Hypoplasia	Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig...	ORPHA:439
Lethal Congenital Contracture Syndrome 2	Dilated cardiomyopathy, Ventricular septal defect, Hydronephrosis	OMIM:607598
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Ventricular septal defect, Unilateral renal agenesis, Renal hypoplasia, Abnormal heart morphology...	OMIM:618494
Congenital Tracheomalacia	Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pulmonary ve...	ORPHA:95430
Atrial Septal Defect 2	Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept...	OMIM:607941
Houge-Janssens Syndrome 3	Atrial septal defect, Muscular ventricular septal defect	OMIM:618354
Fanconi Anemia, Complementation Group O	Hydronephrosis, Stage 5 chronic kidney disease, Renal cyst, Abnormal heart morphology	OMIM:613390
Macdermot-Winter Syndrome	Hydronephrosis	OMIM:247990
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Truncus arteriosus, Ventricular septal defect, Unilateral renal agenesis	OMIM:601355
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Proteinuria, Thrombocytopenia, Splenomegaly, Optic atrophy, Leukopenia, Nephrotic s...	OMIM:617303
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Renal insufficiency, Retinal arteriolar tortuosity, Renal cyst, Hematuria, Lacunar stroke, Dilata...	OMIM:611773
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Muscular ventricular septal defect, Renal agenesis, Unilateral renal agenesis	OMIM:619227
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Enlarged kidney	OMIM:618272
Amyloidosis, Familial Visceral	Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephropathy	OMIM:105200
Mckusick-Kaufman Syndrome	Urethral stricture, Multicystic kidney dysplasia, Ventricular septal defect, Renal hypoplasia/apl...	ORPHA:2473
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Optic disc pallor, Hepatomegaly, Cataract, Ectopic kidney, Cryptorchidism, Cystic renal dysplasia	OMIM:613730
Chromosome 9P Deletion Syndrome	Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Perimembranous ventricular sept...	OMIM:158170
Kallmann Syndrome-Heart Disease Syndrome	Renal agenesis, Anomalous origin of left coronary artery from the pulmonary artery, Dilated cardi...	ORPHA:2326
Meacham Syndrome	Hypoplasia of penis, Crossed fused renal ectopia, Ventricular septal defect, Situs inversus total...	ORPHA:3097
Codas Syndrome	Hydroureter	ORPHA:1458
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Renal dysplasia, Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic aciduria, Car...	OMIM:608836
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia	ORPHA:2432
Polysyndactyly With Cardiac Malformation	Atrial septal defect, Ventricular septal defect, Hepatic cysts, Renal cyst	OMIM:263630
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Renal hypoplasia, Renal cyst, Ureteral agenesis, Stillbirth, Neonatal death, Renal dysplasia	OMIM:236500
Cataract 50 With Or Without Glaucoma	Retinal detachment, Cataract, Persistent pupillary membrane	OMIM:620253
Kaposiform Lymphangiomatosis	Pancreatic cysts, Splenomegaly, Abnormality of the lymphatic system, Hepatosplenomegaly, Anemia, ...	ORPHA:464329
Sotos Syndrome	Ventricular septal defect, Abnormality of the kidney, Muscular ventricular septal defect, Patent ...	OMIM:117550
Pallister-Hall Syndrome	Renal dysplasia, Thyroid dysgenesis, Decreased testicular size, Hydroureter, Decreased response t...	OMIM:146510
Hadziselimovic Syndrome	Ventricular hypertrophy, Ventricular septal defect, Renal hypoplasia, Atrial septal defect, Tetra...	OMIM:612946
6P22 Microdeletion Syndrome	Patent ductus arteriosus, Hydronephrosis	ORPHA:251046
Femoral-Facial Syndrome	Long penis, Polycystic kidney dysplasia, Abnormal localization of kidney, Renal hypoplasia/aplasia	ORPHA:1988
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Cataract, Hypogonadism	OMIM:254000
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Absence of Stensen duct, Decreased response to growth hormone stimulation test, Xerostomia, Anter...	OMIM:604292
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Renal angiomyolipoma, Polycystic kidney dysplasia	OMIM:600273
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Duplicated collecting system, Ventricular septal defect, Hypospadias, Pulmonary artery atresia, M...	OMIM:301056
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Chronic kidney disease, Renal cyst, Focal segmental glomerulosclerosis, Nephropathy, Vascular dil...	OMIM:617056
Urofacial Syndrome 2	Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti...	OMIM:615112
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Hepatomegaly	ORPHA:139406
Isolated Polycystic Liver Disease	Multiple renal cysts, Vascular dilatation	ORPHA:2924
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Cataract, Developmental cataract	OMIM:613076
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr...	OMIM:108900
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Cerebral hemorrhage, Dilated cardiomyopathy, Abnormal left ventricle morphology, Stroke-like epis...	OMIM:300845
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the...	OMIM:617319
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia	ORPHA:83461
Bardet-Biedl Syndrome 12	Hydronephrosis, Hydroureter, Cystic renal dysplasia	OMIM:615989
Transketolase Deficiency	Increased level of ribose in urine, Ventricular septal defect, Abnormal coronary artery course, P...	ORPHA:488618
Immunodeficiency 104	Splenomegaly, Hepatomegaly, T lymphocytopenia, Lymphadenopathy	OMIM:608971
Dilated Cardiomyopathy With Ataxia	Hypoplasia of penis, Muscular ventricular septal defect, Dilated cardiomyopathy, Perineal hypospa...	ORPHA:66634
Transposition Of The Great Arteries, Dextro-Looped	Transposition of the great arteries	OMIM:608808
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Neph...	ORPHA:100024
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Red-brown urine, Renal tubular epitheli...	ORPHA:228308
Fibromuscular Dysplasia, Arterial	Arterial fibromuscular dysplasia, Stroke, Renovascular hypertension, Aortic dissection	OMIM:135580
Galactosemia Iii	Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria	OMIM:230350
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Hinman Syndrome	Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone...	ORPHA:84085
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Right aortic arch, Coarctation of aorta	OMIM:140850
Cataract 9, Multiple Types	Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma	OMIM:604219
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Bicuspid aortic valve, Truncus arteriosus, Ventricular septal defect, Hypospadias, Renal agenesis...	ORPHA:508498
Carnitine Palmitoyltransferase Ii Deficiency	Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis, Cardiomyopath...	ORPHA:157
Campomelia, Cumming Type	Pancreatic cysts, Polycystic kidney dysplasia	OMIM:211890
Fetal Trimethadione Syndrome	Ventricular septal defect, Hypospadias, Transposition of the great arteries, Atrial septal defect...	ORPHA:1913
Glycogen Storage Disease Ib	Hepatomegaly, Pancreatic fibrosis, Proteinuria, Decreased glomerular filtration rate, Splenomegal...	OMIM:232220
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Hepatomegaly, Aminoaciduria	ORPHA:417
Epidermal Nevus Syndrome	Polycystic kidney dysplasia, Aortic aneurysm	ORPHA:35125
Phelan-Mcdermid Syndrome	Ventricular septal defect, Abnormality of the kidney, Patent ductus arteriosus, Polycystic kidney...	OMIM:606232
Syndromic Diarrhea	Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Renal hypoplasia, Abn...	ORPHA:84064
Congenital Heart Defects, Multiple Types, 3	Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor...	OMIM:614954
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Hematuria, Posterior embryotoxon, I...	ORPHA:1473
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Hepatomegaly, Fetal ascites	OMIM:619462
Primary Ciliary Dyskinesia	Abnormal atrial arrangement, Atrial situs ambiguous, Situs inversus totalis, Anomalous pulmonary ...	ORPHA:244
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Craniotelencephalic Dysplasia	Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia	OMIM:218670
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Ventricular septal defect, Bicuspid aortic valve, Mitral valve prolapse, Polycystic ovaries, Coar...	ORPHA:371428
Cat Eye Syndrome	Ventricular septal defect, Renal agenesis, Patent ductus arteriosus, Vesicoureteral reflux, Horse...	OMIM:115470
Multiple Acyl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Lacticaciduria, Abnormal heart morphology, Cardiomyopathy, 3-Methylglutaric ac...	ORPHA:26791
Joubert Syndrome 18	Ventricular septal defect, Renal cyst, Horseshoe kidney	OMIM:614815
Trisomy 1Q	Multicystic kidney dysplasia, Cryptorchidism, Cleft palate, Congenital megaureter, Hydronephrosis...	ORPHA:261344
Yuan-Harel-Lupski Syndrome	Ventricular septal defect, Double outlet right ventricle, Bicuspid aortic valve, Aortic root aneu...	OMIM:616652
Cat-Eye Syndrome	Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia	ORPHA:195
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Recurrent urinary tract infections, Bicuspid aortic valve, Ventricular septal defect, Hypospadias...	ORPHA:353281
Ventriculomegaly With Defects Of The Radius And Kidney	Ureteral duplication, Renal agenesis, Horseshoe kidney, Ectopic kidney	OMIM:602200
Aortic Aneurysm, Familial Thoracic 7	Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture	OMIM:613780
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Abnormal heart morphology, Polyc...	ORPHA:2237
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Ventricular septal defect, Hypospadias, Renal agenesis, Perimembranous ventricular septal defect,...	OMIM:301040
Marden-Walker Syndrome	Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia...	ORPHA:2461
Joubert Syndrome 39	Hypoplastic left heart, Polycystic kidney dysplasia	OMIM:619562
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea...	OMIM:191800
Ventriculomegaly With Cystic Kidney Disease	Renal insufficiency, Ventricular septal defect, Tubular luminal dilatation, Renal corticomedullar...	OMIM:219730
Congenital Disorder Of Glycosylation, Type Iie	Secundum atrial septal defect, Neurogenic bladder, Perimembranous ventricular septal defect, Hydr...	OMIM:608779
Microphthalmia, Lenz Type	Hydroureter, Hypospadias, Renal hypoplasia/aplasia, Cryptorchidism, Hydronephrosis	ORPHA:568
H Syndrome	Abnormality of the kidney, Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy, Azoospermia, C...	ORPHA:168569
Peroxisome Biogenesis Disorder 12A (Zellweger)	Atrial septal defect, Double outlet right ventricle, Patent ductus arteriosus, Renal tubular dysf...	OMIM:614886
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Proteinuria, Septate vagina, Chronic kidney disease, Thickened glomerular basement membrane, Prox...	OMIM:146255
Penile Agenesis	Urethral atresia, male, Hydroureter, Rectal fistula, Cryptorchidism, Fetal pyelectasis, Bilateral...	ORPHA:49
Cataract 47	Microcornea, Cataract, Glycosuria	OMIM:612018
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Caudal Regression Syndrome	Ureteral duplication, Renal insufficiency, Renal agenesis, Ectopic kidney, Cryptorchidism, Abnorm...	ORPHA:3027
Carpenter Syndrome 1	Cryptorchidism, Hydroureter, High palate, Hydronephrosis	OMIM:201000
Odontochondrodysplasia 1	Polycystic kidney dysplasia, Nephronophthisis	OMIM:184260
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Bladder Exstrophy	Hypoplasia of penis, Recurrent urinary tract infections, Intestinal malrotation, Epispadias, Abno...	ORPHA:93930
Peroxisome Biogenesis Disorder 2A (Zellweger)	Aminoaciduria, Polycystic kidney dysplasia, Abnormal heart morphology	OMIM:214110
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Absence of Stensen duct, Decreased response to growth hormone stimulation test, Xerostomia, Urete...	OMIM:129900
Grange Syndrome	Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis	ORPHA:79094
Verheij Syndrome	Renal agenesis, Ventricular septal defect, Renal hypoplasia, Renal cyst, Truncus arteriosus	OMIM:615583
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Mckusick-Kaufman Syndrome	Hydroureter, Aganglionic megacolon, Cryptorchidism, Rectovaginal fistula, Polycystic kidney dyspl...	OMIM:236700
Leber Congenital Amaurosis 1	Keratoconus, Hepatomegaly, Cataract, Optic disc drusen, Pigmentary retinopathy, Hyperthreoninuria	OMIM:204000
3C Syndrome	Hypoplasia of penis, Ventricular septal defect, Abnormal mitral valve morphology, Hypospadias, Ab...	ORPHA:7
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Ascites, Cystic renal dysplasia...	OMIM:200995
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Patent ductus arteriosus, Abnormal cardiac septum morphology, Coarctation of aorta	OMIM:601612
Meckel Syndrome, Type 7	Multicystic kidney dysplasia, Multiple glomerular cysts, Situs inversus totalis, Pancreatic cysts...	OMIM:267010
Multiple Acyl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Ethylma...	OMIM:231680
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Conjunctivitis, Hemophagocytosis, ...	OMIM:603552
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H...	ORPHA:731
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia	OMIM:616570
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Hypoplasia of penis, Tetralogy of Fallot, Hypospadias	ORPHA:1381
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Laterally extended eyebrow, Hydroureter, Thick eyebrow, Thick hair, Highly arched eyebrow, Crypto...	OMIM:610759
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Proteinuria, Splenomegaly, Jaundice, Cholestasis	OMIM:620010
Encephalocraniocutaneous Lipomatosis	Ventricular septal defect, Subvalvular aortic stenosis, Atrial septal defect, Pelvic kidney, Hydr...	OMIM:613001
Penoscrotal Transposition	Hypospadias, Renal agenesis, Abnormality of the urethra, Penoscrotal transposition, Abnormality o...	ORPHA:2842
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Cataract, Fava bean-induced hemolytic anemia	OMIM:618660
Ciliary Dyskinesia, Primary, 20	Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary...	OMIM:615067
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Trisomy 13	Ventricular septal defect, Patent ductus arteriosus, Abnormality of the ureter, Multiple renal cy...	ORPHA:3378
Coats Disease	Aplasia/Hypoplasia of the iris, Retinal detachment, Cataract, Abnormal anterior chamber morphology	ORPHA:190
Peroxisome Biogenesis Disorder 11B	Cataract, Hepatosplenomegaly	OMIM:614885
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Patent ductus arteriosus, Hydronephrosis	OMIM:619797
Raine Syndrome	Death in infancy, Hydroureter, Highly arched eyebrow, Protruding tongue, Cleft palate, High palat...	OMIM:259775
Hypereosinophilic Syndrome, Idiopathic	Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder	OMIM:607685
Methimazole Embryofetopathy	Abnormal aortic morphology, Ventricular septal defect, Hypospadias, Coarctation of aorta	ORPHA:1923
Silver-Russell Syndrome 1	Urethral valve, Hypospadias, Decreased response to growth hormone stimulation test, Abnormality o...	OMIM:180860
Image Syndrome	Hypospadias, Hydronephrosis	ORPHA:85173
Hypertriglyceridemia, Transient Infantile	Splenomegaly, Hepatomegaly, Hepatic fibrosis, Hepatic steatosis	OMIM:614480
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Cardiomegaly, Pa...	ORPHA:99125
Oeis Complex	Duplicated collecting system, Hydroureter, Renal agenesis, Intestinal malrotation, Epispadias, Ve...	OMIM:258040
Branchiootorenal Syndrome 1	Renal malrotation, Unilateral renal agenesis, Renal steatosis, Polycystic kidney dysplasia, Vesic...	OMIM:113650
Tyrosinemia, Type I	Hepatomegaly, Renal insufficiency, Splenomegaly, Nephrocalcinosis, Renal Fanconi syndrome, Pancre...	OMIM:276700
Fryns Syndrome	Multicystic kidney dysplasia, Hypospadias, Abnormal aortic arch morphology, Abnormal cardiac sept...	ORPHA:2059
Ciliary Dyskinesia, Primary, 14	Situs inversus totalis, Heterotaxy	OMIM:613807
Congenital Varicella Syndrome	Microphthalmia	ORPHA:291
Aortic Arch Interruption	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,...	ORPHA:2299
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma	Interrupted aortic arch, Coarctation of aorta	OMIM:107550
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Hydroureter, Recu...	ORPHA:79404
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia, Frontal encephalocele	ORPHA:1528
Phaver Syndrome	Pulmonary artery atresia, Hypoplastic aortic arch, Ventricular septal defect, Coarctation of aorta	ORPHA:2876
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Hypoplasia of the bladder, Hydroureter, Rectovaginal fistula, Vesicoureteral reflux, Crossed fuse...	OMIM:300707
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis	OMIM:269600
Beta-Mercaptolactate Cysteine Disulfiduria	High palate, Abnormality of the ureter	ORPHA:1035
Renpenning Syndrome	Heterotaxy, Hypospadias	ORPHA:3242
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Mmep Syndrome	Microphthalmia	ORPHA:3434
Alg12-Cdg	Hypospadias, Muscular ventricular septal defect, Patent ductus arteriosus, Biventricular hypertro...	ORPHA:79324
Phosphoribosylpyrophosphate Synthetase Superactivity	Cardiomyopathy, Renal insufficiency, Abnormal aortic morphology	ORPHA:3222
Diaphanospondylodysostosis	Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Abnormal liver lobulation, Cystic renal ...	OMIM:608022
Absence Of The Pulmonary Artery	Abnormal coronary artery morphology, Cardiomegaly, Patent ductus arteriosus, Abnormal heart morph...	ORPHA:980
Junctional Epidermolysis Bullosa With Pyloric Atresia	Urethral stricture, Renal dysplasia, Urinary bladder inflammation, Congenital pyloric atresia, He...	ORPHA:79403
Right Pulmonary Artery, Anomalous Origin Of, Familial	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ...	OMIM:610338
Aortic Valve Disease 3	Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A...	OMIM:618496
Isotretinoin-Like Syndrome	Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Patent ductus arteriosus, Abnormal ...	ORPHA:2306
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Corneal opacity, Lymphadenopathy	ORPHA:79292
Immunodeficiency 48	Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly	OMIM:269840
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Multicystic kidney dysplasia	ORPHA:2091
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features	Hydronephrosis	OMIM:235760
Ellis Van Creveld Syndrome	Abnormal hair quantity, Hydroureter, Hypospadias, Abnormality of the kidney, Renal hypoplasia/apl...	ORPHA:289
Hemihyperplasia-Multiple Lipomatosis Syndrome	Abnormality of the lymphatic system, Hydrocele testis, Nephroblastoma, Ovarian serous cystadenoma...	ORPHA:276280
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites	OMIM:271500
Bardet-Biedl Syndrome 4	Abnormality of the kidney, Renal cyst	OMIM:615982
Thakker-Donnai Syndrome	Hydronephrosis, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries	ORPHA:1780
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Arteriovenous malformation, Overriding aorta, Abnormal aortic arch morphology	ORPHA:1110
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Polycystic kidney dysplasia, Hypospadias, Renal hypoplasia, Renal cyst	OMIM:614091
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Cataract, Lens subluxation, Lattice retinal degeneration	OMIM:614292
Renal Agenesis	Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A...	ORPHA:411709
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Renal insufficiency, Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonado...	OMIM:194072
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Rubinstein-Taybi Syndrome 1	Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Mitral valve prolapse, Coarctat...	OMIM:180849
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Atrial septal defect, Atrioventricular canal defec...	OMIM:265380
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia	ORPHA:2528
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Supravalvar pulmonary st...	OMIM:618164
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microcornea, Posterior lenticonus, Remnants of the hyaloid vascular system, Iris coloboma	ORPHA:231736
Atrial Septal Defect 1	Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec...	OMIM:108800
Hereditary Leiomyomatosis And Renal Cell Cancer	Cataract, Vaginal neoplasm, Papillary renal cell carcinoma type 2, Uterine leiomyoma, Uterine lei...	ORPHA:523
Hemochromatosis, Type 2B	Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hypogonadism, Cirrhosis, Anemia	OMIM:613313
Primary Hyperoxaluria Type 2	Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca...	ORPHA:93599
Immunodeficiency 84	Splenomegaly, B lymphocytopenia	OMIM:619437
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale, Hydronephrosis	OMIM:620327
Portal Hypertension, Noncirrhotic, 1	Splenomegaly, Hepatomegaly, Portal hypertension	OMIM:617068
Cardiospondylocarpofacial Syndrome	Ventricular septal defect, Muscular ventricular septal defect, Dysplastic tricuspid valve, Hypopl...	OMIM:157800
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Anal stenosis, Hydroureter, Synophrys, Hypertrophy of the urinary bladder, Unilateral renal dyspl...	ORPHA:280633
Kleefstra Syndrome	Hypoplasia of penis, Renal insufficiency, Ventricular septal defect, Bicuspid aortic valve, Hypos...	ORPHA:261494
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Glycogen Storage Disease Ia	Hepatomegaly, Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, Hepatocellular ca...	OMIM:232200
Floating-Harbor Syndrome	Hypospadias, Renal agenesis, Dilatation of the renal pelvis, Tetralogy of Fallot, Renal cyst, Sta...	ORPHA:2044
Aortic Valve Disease 2	Bicuspid aortic valve, Calcification of the aorta, Aortic tortuosity, Coarctation of aorta, Ascen...	OMIM:614823
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hydronephrosis, Pulmonic stenosis	OMIM:620141
Alport Syndrome 2, Autosomal Recessive	Renal insufficiency, Cataract, Proteinuria, Glomerular basement membrane lamellation, Corneal ero...	OMIM:203780
Frontometaphyseal Dysplasia 1	Hydroureter, Cleft palate, High palate, Hydronephrosis, Hirsutism	OMIM:305620
Tuberous Sclerosis Complex	Renal insufficiency, Abnormality of the kidney, Chronic kidney disease, Stage 5 chronic kidney di...	ORPHA:805
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Varicose veins, Patent ductus arteriosus, Ventricular septal defect, Peripheral arterial stenosis	OMIM:126320
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab...	OMIM:177650
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia	OMIM:120433
Baraitser-Winter Cerebrofrontofacial Syndrome	Hydroureter, Highly arched eyebrow, Abnormality of the upper urinary tract, Low posterior hairlin...	ORPHA:2995
Peutz-Jeghers Syndrome	Melanonychia, Intestinal obstruction, Pancreatic adenocarcinoma, Esophageal neoplasm, Enlarged po...	ORPHA:2869
Suleiman-El-Hattab Syndrome	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Hydronephrosis	OMIM:618950
Fumarase Deficiency	Bilateral fetal pyelectasis, Increased urine succinate level, Elevated urine fumaric acid level, ...	OMIM:606812
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Hydronephrosis	ORPHA:457193
Posterior Urethral Valve	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye...	ORPHA:93110
X-Linked Intellectual Disability, Schimke Type	Vesicoureteral reflux, Hydronephrosis	ORPHA:85285
Ochoa Syndrome	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi...	ORPHA:2704
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Abnormality of retinal pigmentation, Proteinuria, Heparan sulfate excretion in urine, Optic atrop...	ORPHA:505248
White-Kernohan Syndrome	Hydroureter, Synophrys, Broad medial eyebrow, Horseshoe kidney, Anteriorly placed anus, Rectovagi...	OMIM:619426
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Renal cyst	OMIM:174050
Peroxisome Biogenesis Disorder 6A (Zellweger)	Renal cyst	OMIM:614870
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Recurrent urinary tract infections, Bicuspid aortic valve, Ventricular septal defect, Hypospadias...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Recurrent urinary tract infections, Bicuspid aortic valve, Ventricular septal defect, Hypospadias...	ORPHA:353277
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia...	OMIM:614470
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Abnormal aortic morphology, Ventricular septal defect, Abnormal tricuspid valve morphology	ORPHA:3405
Meckel Syndrome 14	Polycystic kidney dysplasia, Single ventricle	OMIM:619879
Criss-Cross Heart	Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten...	ORPHA:1461
Laurence-Moon Syndrome	Hypoplasia of penis, Cataract, Renal insufficiency, Congenital hepatic fibrosis, Cryptorchidism, ...	ORPHA:2377
Aniridia 2	Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma	OMIM:617141
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
Mevalonic Aciduria	Splenomegaly, Cataract	ORPHA:29
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
15Q11.2 Microdeletion Syndrome	Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo...	ORPHA:261183
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:86893
Joubert Syndrome 35	Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections	OMIM:618161
Stickler Syndrome Type 2	Retinal detachment, Cataract, Corneal opacity	ORPHA:90654
Galactose Mutarotase Deficiency	Hepatomegaly, Cataract, Cholestasis	ORPHA:570422
Beckwith-Wiedemann Syndrome	Hepatomegaly, Overgrowth of external genitalia, Cardiomegaly, Cryptorchidism, Pancreatic hyperpla...	OMIM:130650
Peroxisome Biogenesis Disorder 5A (Zellweger)	Hypospadias, Ventricular septal defect, Renal cyst, Polycystic kidney dysplasia, Atrial septal de...	OMIM:614866
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Macroscopic hematuria, Episodic hemolytic ...	ORPHA:251004
Orofaciodigital Syndrome Xv	Hydronephrosis	OMIM:617127
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Hyperparathyroidism, Transient Neonatal	Unilateral renal agenesis, Ovarian cyst, Enlarged kidney, Splenic cyst	OMIM:618188
46,Xx Sex Reversal 5	Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect, Urogenital sinu...	OMIM:618901
Ectopia Lentis Et Pupillae	Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe...	OMIM:225200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Cardiac-Urogenital Syndrome	Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus enlargement, Peri...	OMIM:618280
Retinitis Pigmentosa 4	Pigmentary retinopathy, Bone spicule pigmentation of the retina, Cataract, Retinal atrophy	OMIM:613731
Congenital Myopathy 19	Renal atrophy, Hydronephrosis	OMIM:618578
Igg4-Related Kidney Disease	Lymphadenitis, Renal interstitial immunoglobulin deposits, Sterile pyuria, Tubulointerstitial nep...	ORPHA:449395
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Ureteral duplication, Intestinal malrotation, Cleft palate, Rectovaginal fistula, Anal atresia, R...	OMIM:270420
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Retinitis Pigmentosa 9	Bone spicule pigmentation of the retina, Cataract, Macular atrophy	OMIM:180104
Wolcott-Rallison Syndrome	Atrial septal defect, Renal insufficiency, Double outlet right ventricle, Chronic kidney disease	ORPHA:1667
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia, Occipital encephalocele	ORPHA:324416
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites, Anemia	ORPHA:100025
Hydrocephaly-Low Insertion Umbilicus Syndrome	Patent ductus arteriosus, Abnormality of the urinary system, Tetralogy of Fallot, Anomalous pulmo...	ORPHA:2184
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Hydroureter, Unilateral renal agenesis, Supernumerary nipple, Cryptorchidism, Submucous cleft har...	OMIM:619194
Epidermolysis Bullosa Simplex With Pyloric Atresia	Renal dysplasia, Abnormality of the urethra, Scarring alopecia of scalp, Congenital pyloric atres...	ORPHA:158684
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
Hajdu-Cheney Syndrome	Hypospadias, Ventricular septal defect, Patent ductus arteriosus, Renal cyst, Polycystic kidney d...	OMIM:102500
Congenital Rubella Syndrome	Hepatomegaly, Abnormality of retinal pigmentation, Cataract, Corneal opacity, Splenomegaly, Jaund...	ORPHA:290
Myopia 28, Autosomal Recessive	Retinal detachment, Cataract	OMIM:619781
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt...	OMIM:615513
Simpson-Golabi-Behmel Syndrome	Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter...	ORPHA:373
22Q11.2 Deletion Syndrome	Ventricular septal defect, Abnormal pulmonary valve morphology, Hypospadias, Retinal arteriolar t...	ORPHA:567
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Renal dysplasia	ORPHA:3032
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Lymphoid Interstitial Pneumonia	Hepatomegaly, Keratoconjunctivitis sicca, Mediastinal lymphadenopathy, Enlarged kidney	ORPHA:79128
Retinitis Pigmentosa 84	Macular atrophy, Bone spicule pigmentation of the retina, Cataract, Macular coloboma	OMIM:618220
X-Linked Intellectual Disability, Nascimento Type	Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Double outlet right ventricle, ...	ORPHA:163956
Diets-Jongmans Syndrome	Heterotaxy, Interrupted inferior vena cava with azygous continuation, Ventricular septal defect, ...	OMIM:618846
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Vici Syndrome	Renal tubular acidosis, High palate, Ureteral atresia, Death in infancy	ORPHA:1493
Aniridia-Intellectual Disability Syndrome	Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis	ORPHA:1068
Distal Deletion 12Q	Ectopic kidney, Patent ductus arteriosus, Congenital hypertrophy of left ventricle, Polycystic ki...	ORPHA:96149
Distal Deletion 15Q	Multicystic kidney dysplasia, Bicuspid aortic valve, Mitral atresia, Hypospadias, Double outlet r...	ORPHA:1596
Ogden Syndrome	Global glomerulosclerosis, Peripheral pulmonary artery stenosis, Bicuspid aortic valve, Left atri...	OMIM:300855
Renal And Mullerian Duct Hypoplasia	Renal hypoplasia, Horseshoe kidney, Anteriorly displaced urethral meatus, Hydrocele testis, Aplas...	OMIM:266810
Stankiewicz-Isidor Syndrome	Ureteral duplication, Hypospadias, Cryptorchidism, Pineal cyst, Micropenis	OMIM:617516
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Corneal opacity, Remnants of the hyaloid vascular system, Optic disc colobom...	OMIM:120200
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Ventricular septal defect, Hypospadias, Cardiomegaly, Micropenis, Hypertrophic cardiomyopathy, Hy...	OMIM:616897
Williams-Beuren Region Duplication Syndrome	Patent ductus arteriosus, Hydronephrosis, Unilateral renal agenesis	OMIM:609757
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Abnormal hair pattern, Renal hypoplasia/aplasia, Abnormality of the ureter, Cleft palate, Polycys...	ORPHA:1770
46,Xy Sex Reversal 3	Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ...	OMIM:612965
Congenital Bile Acid Synthesis Defect Type 1	Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Cirrhosis, Neonatal cholestatic ...	ORPHA:79301
Chand Syndrome	Curly hair, Hydroureter, Bifid tongue, Cleft palate	ORPHA:1401
Schinzel-Giedion Midface Retraction Syndrome	Ureteral stenosis, Hypospadias, Hydroureter, Splenopancreatic fusion, Macroglossia, Hypoplastic n...	OMIM:269150
Kury-Isidor Syndrome	Ventricular septal defect, Hydronephrosis	OMIM:619762
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia	OMIM:274270
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Azoospermia, Hypogonadism, Poikilo...	OMIM:615234
Meckel Syndrome 12	Ureteral hypoplasia, Bifid uvula, Bilateral renal agenesis, Renal hypoplasia	OMIM:616258
Microcephaly 20, Primary, Autosomal Recessive	Ureteral agenesis, Hyperechogenic kidneys, Bilateral renal agenesis, Renal hypoplasia	OMIM:617914
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Ventricular septal defect, Muscular ventricular septal defect, Renal hypoplasia, Renal cyst, Coar...	OMIM:210710
Zaki Syndrome	Patent ductus arteriosus, Renal agenesis, Patent foramen ovale, Hydronephrosis	OMIM:619648
Dextrocardia	Dextrocardia, Situs inversus totalis, Abnormal renal morphology, Abnormality of the ureter, Abnor...	ORPHA:1666
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Atrial septal defect, Micropenis, Ventricular septal defect, Polycystic kidney dysplasia	OMIM:263520
Femoral-Facial Syndrome	Renal agenesis, Ventricular septal defect, Abnormal renal collecting system morphology, Micropeni...	OMIM:134780
Axial Mesodermal Dysplasia Spectrum	Renal hypoplasia/aplasia, Abnormality of the ureter, Tracheoesophageal fistula, Renal cyst, Abnor...	ORPHA:1834
Giant Cell Arteritis	Renal insufficiency, Pericarditis, Vasculitis, Hematuria, Aortic dissection, Double outlet right ...	ORPHA:397
Bardet-Biedl Syndrome 17	Dextrocardia, Polyuria, Situs inversus totalis, Stage 5 chronic kidney disease, Renal cyst, Micro...	OMIM:615994
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec...	ORPHA:1686
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:616860
Meckel Syndrome, Type 9	Multicystic kidney dysplasia	OMIM:614209
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an...	ORPHA:91495
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia...	OMIM:603860
B-Cell Expansion With Nfkb And T-Cell Anergy	Splenomegaly, Increased B cell count	OMIM:616452
Noonan Syndrome 4	Ureteral duplication, Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertr...	OMIM:610733
17Q12 Microdeletion Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cryptorchidism, Uret...	ORPHA:261265
Urban-Rogers-Meyer Syndrome	Cryptorchidism, Hypoplasia of penis, Abnormality of the ureter	ORPHA:3409
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Patent ductus arteriosus, Hydronephrosis	OMIM:300048
Joubert Syndrome 16	Renal cyst, Nephronophthisis	OMIM:614465
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
20Q13.33 Microdeletion Syndrome	Dilation of Virchow-Robin spaces, Hypospadias, Abnormal cardiac ventricle morphology, Hypoplastic...	ORPHA:261311
Meckel Syndrome, Type 4	Atrial septal defect, Ventricular septal defect, Renal cyst	OMIM:611134
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia	OMIM:615524
Harderoporphyria	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Increased urine harderoporphyrin level, Splenome...	OMIM:618892
Mosaic Trisomy 9	Hypoplasia of penis, Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Pa...	ORPHA:99776
Cystic Hamartoma Of Lung And Kidney	Multicystic kidney dysplasia	ORPHA:2111
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm...	OMIM:619375
Orofaciodigital Syndrome I	Proteinuria, Pancreatic cysts, Vascular dilatation, Abnormal heart morphology, Ovarian cyst, Poly...	OMIM:311200
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Muscular ventricular septal defect	OMIM:618569
Rhyns Syndrome	Multicystic kidney dysplasia, Nephronophthisis	ORPHA:140976
Fanconi Anemia	Renal insufficiency, Hydroureter, Hypospadias, Recurrent urinary tract infections, Aganglionic me...	ORPHA:84
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu...	OMIM:610805
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Neuraminidase Deficiency	Hepatomegaly, Cataract, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marro...	OMIM:256550
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia	ORPHA:721
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Hardikar Syndrome	Hypoplasia of the bladder, Renal insufficiency, Hydroureter, Recurrent urinary tract infections, ...	OMIM:301068
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatomegaly, Proteinuria, Chronic neutropenia, Hepatocellular adenoma, Enlarged kidney, Stage 5 ...	ORPHA:79259
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Transient neutropenia, Cataract, Chronic neutrop...	ORPHA:500095
Xanthinuria, Type I	Xanthinuria, Xanthine nephrolithiasis, Hydronephrosis, Pyelonephritis	OMIM:278300
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Cataract, External genital hypoplasia, Cryptorchidism, Hypogonadism, Retinal coloboma	ORPHA:363741
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormality of the ureter, Hypospadias	ORPHA:2522
Hemochromatosis, Type 2A	Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Azoospermia, Cirrhosis	OMIM:602390
Oculocerebrocutaneous Syndrome	Microphthalmia, Orbital encephalocele, Anophthalmia	OMIM:164180
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Splenomegaly, Optic atrophy, Anemia, Thrombocytopenia	OMIM:615085
Hypogonadism-Cataract Syndrome	Male hypogonadism, Cataract, Hypogonadism	OMIM:240950
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Hyperechogenic kidneys, Polycystic kidney dysplasia	OMIM:617866
Koolen-De Vries Syndrome	Ureteral duplication, Hypopigmentation of hair, Hypospadias, Abnormality of hair texture, High, n...	ORPHA:96169
Hurler-Scheie Syndrome	Splenomegaly, Hepatomegaly, Corneal opacity, Abnormality of the tonsils	ORPHA:93476
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypoparathyroidism, High, narrow palate, Hypercalciuria, Renal cyst, Nephrocalcinosis, Abnormalit...	ORPHA:369837
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Multiple muscular ventricular septal defects, Pulmonic stenosis	OMIM:615508
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis	OMIM:619658
Trisomy X	Multicystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:3375
Congenital Disorder Of Glycosylation, Type It	Ventricular septal defect, Cardiomegaly, Dilated cardiomyopathy, Coarctation of aorta, Hydronephr...	OMIM:614921
Monosomy 18Q	Absence of the pulmonary valve, Secundum atrial septal defect, Left aortic arch with right descen...	ORPHA:1600
Arima Syndrome	Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedullary cysts, R...	OMIM:243910
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Snowflake vitreoretinal degeneration, Cataract, Corneal guttata	OMIM:193230
Meckel Syndrome, Type 1	Hypoplasia of the bladder, Renal agenesis, Patent ductus arteriosus, Abnormality of the ureter, C...	OMIM:249000
Polycystic Liver Disease 4 With Or Without Kidney Cysts	Renal cyst, Hepatic cysts	OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts	Renal cyst, Hepatic cysts	OMIM:617874
Craniofacioskeletal Syndrome	Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Interrupted aortic arch, Atrial...	OMIM:300712
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Atrial septal defect, Micropenis, Polycystic kidney dysplasia	OMIM:616546
Hereditary Xanthinuria	Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Xanthinuria, Hydronep...	ORPHA:3467
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne...	OMIM:614817
Multisystemic Smooth Muscle Dysfunction Syndrome	Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar...	OMIM:613834
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia	OMIM:610023
46,Xy Sex Reversal 11	Abnormal internal genitalia, Vanishing testis, Aplasia of the uterus, Gonadal dysgenesis with fem...	OMIM:273250
Endocrine-Cerebroosteodysplasia	Small scrotum, Hypospadias, Cryptorchidism, Sex reversal, Microphallus, Ambiguous genitalia, Hype...	OMIM:612651
Fraser Syndrome 2	Renal agenesis, Intestinal malrotation, Unilateral renal agenesis, Rectal atresia, Low anterior h...	OMIM:617666
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B...	ORPHA:1414
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolap...	OMIM:612561
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Abnormal vena cava morphology, Ventricular septal defect, Renal cyst, Horseshoe kidney	ORPHA:166035
Cockayne Syndrome Type 3	Neurogenic bladder, Renal insufficiency, Hydroureter, Dry hair, Unilateral renal agenesis, Renal ...	ORPHA:90324
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Hemophagocytosis, Thrombocytopenia	OMIM:613101
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Microphthalmia, Syndromic 13	Microphthalmia	OMIM:300915
Halperin-Birk Syndrome	Perimembranous ventricular septal defect	OMIM:618651
9Q21.13 Microdeletion Syndrome	Hydronephrosis, Abnormal heart morphology	ORPHA:531151
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Renal insufficiency, Splenomegaly, Optic atrophy, Anemia, Neutropenia, Pancreatitis...	ORPHA:79312
Biemond Syndrome Type 2	Microphthalmia	ORPHA:141333
46,Xx Ovotesticular Difference Of Sex Development	Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H...	ORPHA:2138
Fanconi Anemia, Complementation Group G	Microphthalmia	OMIM:614082
Duane-Radial Ray Syndrome	Renal malrotation, Ventricular septal defect, Renal agenesis, Vesicoureteral reflux, Renal hypopl...	OMIM:607323
2Q24 Microdeletion Syndrome	Microphthalmia	ORPHA:1617
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Multicystic kidney dysplasia	ORPHA:3270
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia	OMIM:616171
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Hypoplasia of the uterus, Azoospermia,...	OMIM:601076
Intellectual Developmental Disorder, Autosomal Dominant 66	Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra...	OMIM:619910
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Ureteral duplication, Double outlet left ventricle, Ventricular septal defect, Patent foramen ova...	ORPHA:2255
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ...	ORPHA:75564
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Pleural lymphangiectasia, Pericardial lymphangiectasia, Ventricular septal defect, Ectopic kidney...	OMIM:235510
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Bicuspid aortic valve, Muscular ventricular septal defect, Patent ductus arteriosus, Coarctation ...	OMIM:612474
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Fanconi Anemia, Complementation Group J	Microphthalmia	OMIM:609054
Aortic Aneurysm, Familial Thoracic 10	Aortic arch aneurysm, Bicuspid aortic valve, Thoracic aortic aneurysm, Fusiform ascending tubular...	OMIM:617168
Down Syndrome	Ventricular septal defect, Complete atrioventricular canal defect, Patent ductus arteriosus, Part...	OMIM:190685
Vacterl/Vater Association	Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, A...	ORPHA:887
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Ventricular septal defect, Thyroid lymphangiectasia, Pancreatic lymphangiectasis, Pulmonary lymph...	OMIM:235255
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Mayer-Rokitansky-Küster-Hauser Syndrome	Hypoplasia of the vagina, Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney, H...	ORPHA:3109
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Microcornea, Buph...	OMIM:221900
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Polycystic kidney dysplasia, Ambiguous genitalia, Micropenis, Renal dysplasia, Enlarged kidney	OMIM:613091
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Cataract, Proteinuria, Retinal detachment, Lens ...	OMIM:120330
Galactokinase Deficiency	Hepatomegaly, Cataract, Hypergonadotropic hypogonadism, Hepatosplenomegaly, Nuclear cataract, Inc...	ORPHA:79237
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease	OMIM:214900
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Increased urine alpha-ketoglutarate concentration, Renal agenesis, Ventricular septal defect, Pat...	OMIM:220500
Bor Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu...	ORPHA:107
Microphthalmia, Isolated 5	Microphthalmia	OMIM:611040
Fraser Syndrome 3	Hypoplasia of the bladder, Hypoplasia of penis, Ureteral agenesis, Stillbirth, Bilateral renal ag...	OMIM:617667
Tarp Syndrome	Subdural hemorrhage, Horseshoe kidney, Atrial septal defect, Tetralogy of Fallot, Hydronephrosis	OMIM:311900
Aredyld Syndrome	Abnormality of the ureter, Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:1133
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Renal dysplasia, Ureteral duplication, Anal stenosis, Ureteral hypoplasia, Bladder trabeculation,...	OMIM:614080
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Conjunctival icterus, Increased mean corpu...	OMIM:194380
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Hepatomegaly, Optic disc pallor, Splenomegaly, Thrombocytopenia, Optic atrophy, ...	OMIM:611490
Leber Congenital Amaurosis 8	Keratoconus, Cataract, Macular coloboma, Nummular pigmentation of the fundus, Pigmentary retinopathy	OMIM:613835
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency, Hypospadias, Cryptorchidism, Urolithiasis, Hyperuricosuria, High palate, Dea...	OMIM:300661
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Absent pulmonary artery, Coarct...	OMIM:600460
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Ureteropelvic junction obstruction, Duplicated collecting system, Ventricular septal defect, Pulm...	OMIM:280000
Leydig Cell Hypoplasia	Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp...	ORPHA:755
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Patent ductus arteriosus, Ureteral triplication, Hydronephrosis, Mitral valve prolapse	OMIM:104350
Nephronophthisis 9	Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613824
Joubert Syndrome 20	Renal cyst	OMIM:614970
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Ventricular septal defect, Mitral atresia, Unilateral renal agenesis, Ascending aorta hypoplasia,...	OMIM:619503
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropeni...	ORPHA:79477
Immunodeficiency, Common Variable, 2	Hepatomegaly, Follicular hyperplasia, Splenomegaly, Lymphadenopathy, Conjunctivitis	OMIM:240500
Gaucher Disease, Type Ii	Double aortic arch	OMIM:230900
Bile Acid Synthesis Defect, Congenital, 5	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi...	OMIM:616278
Cofs Syndrome	Microphthalmia	ORPHA:1466
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Hepatocellular carcinoma, Thrombocytopenia, Splenomegaly, H...	ORPHA:158057
Galactosemia I	Hemolytic anemia, Hepatomegaly, Cataract, Hypergonadotropic hypogonadism, Aminoaciduria, Albuminu...	OMIM:230400
Koolen-De Vries Syndrome	Recurrent urinary tract infections, Ventricular septal defect, Bicuspid aortic valve, Patent duct...	OMIM:610443
1Q21.1 Microdeletion Syndrome	Patent ductus arteriosus, Abnormal cardiac septum morphology, Interrupted aortic arch, Vesicouret...	ORPHA:250989
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Mullerian Aplasia And Hyperandrogenism	Abnormal external genitalia, Unilateral renal agenesis, Aplasia of the vagina, Aplasia of the fal...	OMIM:158330
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Ornithine Transcarbamylase Deficiency	Splenomegaly, Aminoaciduria	ORPHA:664
Xk Aprosencephaly Syndrome	Microphthalmia	ORPHA:3469
15q26 overgrowth syndrome	Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys...	DECIPHER:81
Alg9-Cdg	Hepatomegaly, Hypoplasia of the bladder, Ureteral hypoplasia, Periportal fibrosis, Bicornuate ute...	ORPHA:79328
Developmental Delay With Or Without Dysmorphic Facies And Autism	Ventricular septal defect, Patent ductus arteriosus, Renal hypoplasia, Renal cyst, Coarctation of...	OMIM:618454
Braddock-Carey Syndrome 1	Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular septal defect	OMIM:619980
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Alopecia, Highly arched eyebrow, Synophrys, Abnormality of the ureter, Bilateral cleft lip and pa...	ORPHA:3253
Zellweger Syndrome	Multicystic kidney dysplasia, Ventricular septal defect, Hydronephrosis, Hypospadias	ORPHA:912
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia	ORPHA:171844
Intellectual Disability, Buenos-Aires Type	Abnormal cardiac septum morphology, Hydronephrosis	ORPHA:3079
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric lymph node, ...	OMIM:209950
Peroxisome Biogenesis Disorder 11A (Zellweger)	Multiple renal cysts, Renal cyst	OMIM:614883
Mucolipidosis Ii Alpha/Beta	Hepatomegaly, Cardiomegaly, Splenomegaly, Mucopolysacchariduria, Opacification of the corneal str...	OMIM:252500
Morning Glory Disc Anomaly	Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
8P23.1 Microdeletion Syndrome	Hypospadias, Patent ductus arteriosus, Pulmonary artery stenosis, Hypertrophic cardiomyopathy, Ab...	ORPHA:251071
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Hypogonadism, Cryptorchidism, Cataract, Retinal coloboma	OMIM:601794
8P Inverted Duplication/Deletion Syndrome	Dextrocardia, Abnormal heart morphology, Abnormality of the urinary system, Micropenis, Tetralogy...	ORPHA:96092
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Intracranial hemorrhage, Interr...	ORPHA:163979
Beta-Thalassemia	Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytop...	ORPHA:848
Familial Bicuspid Aortic Valve	Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, Coarctation of aorta, Ab...	ORPHA:402075
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Ventricular septal defect, Pancreatic lymphangiectasis, Abnormal renal morphology, Pulmonary lymp...	ORPHA:1655
Beckwith-Wiedemann Syndrome	Hepatomegaly, Ureteral duplication, Cardiomegaly, Splenomegaly, Cryptorchidism, Abnormal pancreas...	ORPHA:116
Hereditary Orotic Aciduria	Aminoaciduria, Orotic acid crystalluria, Abnormality of the ureter, Oroticaciduria	ORPHA:30
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Alopecia, Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Cryptor...	ORPHA:2636
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor...	OMIM:612840
Lissencephaly 8	Microphthalmia, Occipital encephalocele	OMIM:617255
Heart And Brain Malformation Syndrome	Ventricular septal defect, Interrupted aortic arch	OMIM:616920
Adams-Oliver Syndrome 6	Splenomegaly, Hepatic fibrosis, Renal hypoplasia, Portal hypertension	OMIM:616589
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Recurrent urinary tract infections, Splenomegaly, Lymp...	OMIM:618495
Distal Duplication 6P	Hydronephrosis, Abnormality of the urinary system, Renal hypoplasia	ORPHA:1745
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Immunodeficiency, Common Variable, 1	Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo...	OMIM:607594
Sifrim-Hitz-Weiss Syndrome	Renal insufficiency, Ventricular septal defect, Patent ductus arteriosus, Vesicoureteral reflux, ...	OMIM:617159
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A...	OMIM:601859
Basel-Vanagaite-Smirin-Yosef Syndrome	Atrial septal defect, Ventricular septal defect, Hydronephrosis, Hypospadias	OMIM:616449
Mullegama-Klein-Martinez Syndrome	Hypoplastic left heart, Apical muscular ventricular septal defect, Coarctation of aorta	OMIM:301022
Hereditary Mucoepithelial Dysplasia	Cataract, Corneal dystrophy, Abnormality of the bladder, Hematuria, Abnormal morphology of female...	ORPHA:1839
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Diphallia	Ureteral duplication, Renal malrotation, Rectoperineal fistula, Hypospadias, Distal urethral dupl...	ORPHA:227
Vater/Vacterl Association	Renal dysplasia, Ventricular septal defect, Hypospadias, Renal agenesis, Ectopic kidney, Patent d...	OMIM:192350
Johanson-Blizzard Syndrome	Hypoplasia of penis, Hypospadias, Dextrocardia, Abnormal cardiac septum morphology, Hydronephrosis	ORPHA:2315
Combined Oxidative Phosphorylation Deficiency 11	Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Cardiomyopathy, Renal ...	OMIM:614922
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Cold Agglutinin Disease	Hemolytic anemia, Abnormal urinary color, Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:56425
Kapur-Toriello Syndrome	Patent ductus arteriosus, Hypoplasia of penis, Tetralogy of Fallot, Ventricular septal defect	ORPHA:2328
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Ventricular septal defect, Bicuspid aortic valve, Vesicoureteral reflux, Abnormal heart morpholog...	ORPHA:453499
Viss Syndrome	Tortuous cerebral arteries, Epidural hemorrhage, Right ventricular dilatation, Atrial septal defe...	OMIM:619472
Cholesteryl Ester Storage Disease	Splenomegaly, Hepatomegaly, Jaundice, Cirrhosis	ORPHA:75234
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Patent ductus arteriosus after premature birth, Renal hypoplasia, Renal cys...	OMIM:618460
Desmoid Tumor	Hydronephrosis, Abnormality of the upper urinary tract	ORPHA:873
Hartsfield Syndrome	Encephalocele, Microphthalmia	ORPHA:2117
Cryoglobulinemic Vasculitis	Hepatomegaly, Viral hepatitis, Glomerulopathy, Renal insufficiency, Proteinuria, Splenomegaly, Me...	ORPHA:91138
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Splenomegaly, Chronic kidney disease, Cholestasis, Hepatic fibrosis, Nephronophthis...	OMIM:615630
Trisomy 20P	Hypospadias, Abnormality of the kidney, Highly arched eyebrow, Thick hair, Cryptorchidism, Abnorm...	ORPHA:261318
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Microcornea, Cataract, Aniridia	OMIM:106230
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Pancreatic cysts, Polycystic kidney dysplasia, Renal cyst	OMIM:610199
Opitz Gbbb Syndrome	Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Vesicoureteral reflux, Abnormal...	ORPHA:2745
Diamond-Blackfan Anemia 7	Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Horseshoe kid...	OMIM:612562
Alg3-Cdg	Cardiomyopathy, Coarctation of the descending aortic arch	ORPHA:79321
Coach Syndrome 1	Unilateral renal agenesis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, ...	OMIM:216360
Glycogen Storage Disease Ixb	Splenomegaly, Hepatomegaly, Increased hepatic glycogen content	OMIM:261750
Pierson Syndrome	Diffuse mesangial sclerosis, Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the cili...	OMIM:609049
Meckel Syndrome, Type 5	Microphthalmia, Occipital encephalocele, Anencephaly	OMIM:611561
Scalp-Ear-Nipple Syndrome	Ureteral duplication, Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephrit...	ORPHA:2036
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A...	OMIM:603909
Proteus-Like Syndrome	Retinal detachment, Thymus hyperplasia, Cataract, Splenomegaly, Abnormal pupil morphology, Polycy...	ORPHA:2969
Takenouchi-Kosaki Syndrome	Hypospadias, Unilateral renal agenesis, Patent ductus arteriosus, Abnormal cardiac septum morphol...	OMIM:616737
Coffin-Siris Syndrome 1	Sparse scalp hair, Dry hair, Hydroureter, Hypospadias, Intestinal malrotation, Duodenal ulcer, Ec...	OMIM:135900
Mosaic Trisomy 1	Ventricular septal defect, Renal cortical cysts, Renal cyst, Coarctation of aorta, Pulmonary arte...	ORPHA:1692
Chromosome 17Q12 Deletion Syndrome	Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Unil...	OMIM:614527
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Rectal prolapse, Abnormality of the ureter, Multiple gastric polyps, Ha...	OMIM:175200
Alport Syndrome	Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo...	ORPHA:63
Cataract 10, Multiple Types	Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract	OMIM:600881
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Renal insufficiency, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Absence of renal ...	OMIM:617641
Autosomal Dominant Keratitis	Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op...	ORPHA:2334
Tetraploidy	Hydronephrosis, Renal hypoplasia/aplasia	ORPHA:3305
Joubert Syndrome 14	Intracranial hemorrhage, Ventricular septal defect, Renal cyst	OMIM:614424
Leprechaunism	Hepatomegaly, Enlarged ovaries, Clitoral hypertrophy, Overgrowth of external genitalia, Labial hy...	ORPHA:508
Melnick-Needles Syndrome	Vesicoureteral reflux, Abnormal cardiac septum morphology, Hydronephrosis	ORPHA:2484
Exstrophy-Epispadias Complex	Renal dysplasia, Renal insufficiency, Bladder fistula, Anal stenosis, Urinary incontinence, Abnor...	ORPHA:322
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N...	OMIM:235700
Glycogen Storage Disease Of Heart, Lethal Congenital	Cataract, Ascites, Enlarged kidney, Cardiomegaly	OMIM:261740
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat...	OMIM:619463
Pierpont Syndrome	Microphthalmia	ORPHA:487825
Indolent Systemic Mastocytosis	Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos...	ORPHA:98848
Multiple Sulfatase Deficiency	Hepatomegaly, Abnormality of retinal pigmentation, Cataract, Corneal opacity, Splenomegaly, Optic...	ORPHA:585
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H...	OMIM:615122
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro...	OMIM:137920
Gabriele-De Vries Syndrome	Ureteropelvic junction obstruction, Patent foramen ovale, Hydronephrosis, Aortopulmonary collater...	OMIM:617557
Chime Syndrome	Ventricular septal defect, Abnormality of the kidney, Tetralogy of Fallot, Transposition of the g...	ORPHA:3474
Cerebellar-Facial-Dental Syndrome	Ventricular septal defect, Mitral valve prolapse, Ascending tubular aorta aneurysm, Ureteropelvic...	ORPHA:444072
Say Syndrome	Proximal renal tubular acidosis, Cystic renal dysplasia	OMIM:181180
Microcephaly 26, Primary, Autosomal Dominant	Patent foramen ovale, Hydronephrosis	OMIM:619179
Cholestasis, Progressive Familial Intrahepatic, 3	Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro...	OMIM:602347
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Patent ductus arteriosus, Rena...	ORPHA:464311
Renal Coloboma Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal...	ORPHA:1475
Smith-Magenis Syndrome	Renal hypoplasia/aplasia, Synophrys, Abnormality of the ureter, Cleft palate, Abnormal localizati...	ORPHA:819
Joubert Syndrome 7	Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis	OMIM:611560
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Peroxisome Biogenesis Disorder 10B	Nephrocalcinosis, Neurogenic bladder, Cataract	OMIM:617370
Coloboma, Ocular, Autosomal Recessive	Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma	OMIM:216820
Congenital Tracheal Stenosis	Ventricular septal defect, Abnormality of the kidney, Ascending aorta hypoplasia, Patent ductus a...	ORPHA:141127
Endove Syndrome, Limb-Brain Type	Hydronephrosis, Neurogenic bladder, Recurrent urinary tract infections	OMIM:619218
Partial Androgen Insensitivity Syndrome	Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral cryptorchidism, P...	ORPHA:90797
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia	ORPHA:158029
Birt-Hogg-Dube Syndrome 1	Renal neoplasm, Renal cell carcinoma, Renal cyst	OMIM:135150
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Micropenis, Perimembranous ventricular septal defect, Hydronephrosis	ORPHA:83617
Intellectual Developmental Disorder, Autosomal Dominant 53	Micropenis, Ventricular septal defect, Hydronephrosis	OMIM:617798
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Patent ductus arteriosus, Renal cyst, Coarctation of aorta, Mitral stenosis, Renal dysplasia	OMIM:617260
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Leukoc...	OMIM:603903
Pentalogy Of Cantrell	Ventricular septal defect, Abnormal pericardium morphology, Hypospadias, Renal agenesis, Atrial s...	ORPHA:1335
Alpha-Mannosidosis, Adult Form	Optic disc pallor, Pancytopenia, Cataract, Corneal opacity, Oligosacchariduria, Hepatosplenomegaly	ORPHA:309288
Hepatoportal Sclerosis	Portal hypertension, Nodular regenerative hyperplasia of liver, Portal vein thrombosis, Hypersple...	ORPHA:64743
Chondrodysplasia, Blomstrand Type	Preductal coarctation of the aorta	OMIM:215045
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Hydronephrosis	OMIM:618060
Lumbar Syndrome	Bifid scrotum, Ambiguous genitalia, Renal agenesis, Hypospadias, Bifid uterus, Cryptorchidism, Hy...	ORPHA:83628
Igg4-Related Retroperitoneal Fibrosis	Renal insufficiency, Dysuria, Renovascular hypertension, Renal tubular epithelial necrosis, Unila...	ORPHA:49041
Pierpont Syndrome	Microphthalmia	OMIM:602342
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermitte...	OMIM:150550
Weyers Ulnar Ray/Oligodactyly Syndrome	Hydronephrosis	OMIM:602418
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Genital ulcers, S...	OMIM:602450
Griscelli Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Leu...	ORPHA:381
Baller-Gerold Syndrome	Malabsorption, Abnormality of the ureter, Abnormal localization of kidney, Cleft palate, Anterior...	ORPHA:1225
Peroxisome Biogenesis Disorder 1A (Zellweger)	Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Albuminuria, Aminoaciduria, Ren...	OMIM:214100
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Atrial septal defect, Double outlet right ventricle, Patent ductus arteriosus, Pulmonic stenosis	OMIM:618223
Holoprosencephaly 13, X-Linked	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Double outlet right ...	OMIM:301043
Basel-Vanagaite-Smirin-Yosef Syndrome	Ventricular septal defect, Hypospadias, Male urethral meatus stenosis, Left superior vena cava dr...	ORPHA:464738
Norrie Disease	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,...	OMIM:310600
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Leiomyomatosis, Diffuse, With Alport Syndrome	Renal insufficiency, Cataract, Glomerular basement membrane lamellation, Proteinuria, Thickened g...	OMIM:308940
Joubert Syndrome 37	Micropenis, Hydronephrosis	OMIM:619185
Congenital Disorder Of Glycosylation, Type Ib	Proximal tubulopathy, Lymphangiectasis, Renal cyst	OMIM:602579
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Vesicoureteral reflux, Hydronephrosis	OMIM:618265
Warburg Micro Syndrome 1	Microphthalmia	OMIM:600118
Autosomal Recessive Spondylocostal Dysostosis	Cryptorchidism, Abnormality of the ureter, Hypospadias, Cleft palate	ORPHA:2311
Kawasaki Disease	Pericarditis, Abnormal heart valve morphology, Proteinuria, Myocarditis, Vasculitis, Sterile pyur...	ORPHA:2331
Focal Dermal Hypoplasia	Multicystic kidney dysplasia, Ventricular septal defect, Renal hypoplasia/aplasia, Patent ductus ...	ORPHA:2092
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia	OMIM:251270
Diaphanospondylodysostosis	Multiple renal cysts	ORPHA:66637
Kleefstra Syndrome Due To 9Q34 Microdeletion	Hypoplasia of penis, Renal insufficiency, Conotruncal defect, Coarctation of aorta, Abnormal card...	ORPHA:96147
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Absent eyebrow, Alopecia, Hydroureter, Aganglionic megacolon, Abnormality of the kidney, Abnormal...	ORPHA:2273
Genitopatellar Syndrome	Atrial septal defect, Multicystic kidney dysplasia, Hydronephrosis	ORPHA:85201
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:612653
Thauvin-Robinet-Faivre Syndrome	Renal malrotation, Ventricular septal defect, Renal cyst, Mitral valve prolapse, Varicose veins, ...	OMIM:617107
Diethylstilbestrol Syndrome	Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula...	ORPHA:1916
Beta-Thalassemia Intermedia	Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ...	ORPHA:231222
Robinow Syndrome	Multicystic kidney dysplasia, Ventricular septal defect, Abnormal heart morphology, Coarctation o...	ORPHA:97360
Teebi-Shaltout Syndrome	Ureteral stenosis, Ventricular septal defect, Horseshoe kidney, Aortic valve stenosis, Hydronephr...	OMIM:272950
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Hypoplastic Left Heart Syndrome 2	Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia	OMIM:614435
Frank-Ter Haar Syndrome	Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, Atrial septal de...	OMIM:249420
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia	OMIM:604229
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis	ORPHA:59303
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Streak ovary, Abnormality of female external genitalia, Testicular dysgenesis, Hypoplasia of the ...	ORPHA:168563
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom...	ORPHA:3427
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut...	OMIM:615387
Microphthalmia, Syndromic 8	Microphthalmia	OMIM:601349
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Amoebic Keratitis	Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol...	ORPHA:67043
Pagod Syndrome	Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Situs inversus totalis, Pulmonary artery ...	ORPHA:991
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome	Duplication of renal pelvis, Ureteral duplication, Thick eyebrow, High, narrow palate	ORPHA:457212
Dyrk1A-Related Intellectual Disability Syndrome	Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Patent ductus arteriosus, Rena...	ORPHA:464306
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic aortic arch, Coarctation of aort...	OMIM:617506
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Kabuki Syndrome	Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Rena...	ORPHA:2322
Acrorenal-Mandibular Syndrome	Renal agenesis, Aplasia of the bladder, Abnormality of the ureter, Polycystic kidney dysplasia	OMIM:200980
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia	ORPHA:48431
Alzahrani-Kuwahara Syndrome	Ventricular septal defect, Hypospadias, Coronary sinus enlargement, Pulmonary artery sling, Persi...	OMIM:619268
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Autosomal Recessive Robinow Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Ventricular septal defect, Abnormal pulmonary ...	ORPHA:1507
Thoracoabdominal Syndrome	Renal agenesis, Hypospadias, Patent ductus arteriosus, Transposition of the great arteries, Ectop...	OMIM:313850
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Atrial septal defect, Patent ductus arteriosus, Renal dysplasia, Hydronephrosis	OMIM:300968
3-Methylglutaconic Aciduria Type 7	Renal insufficiency, Renal cyst, Nephrocalcinosis, Cardiomyopathy, 3-Methylglutaconic aciduria	ORPHA:445038
Acrocardiofacial Syndrome	Hypoplasia of penis, Ventricular septal defect, Mitral stenosis, Hypospadias, Coarctation of aort...	ORPHA:2008
Lymphedema-Hypoparathyroidism Syndrome	Nephropathy, Renal insufficiency, Cataract, Pulmonary lymphangiectasia	OMIM:247410
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Arteria lusoria, Vesicoureteral reflux, Micropenis, Pelvic kidney, Patent foramen ovale, Hydronep...	OMIM:618653
Congenital Disorder Of Glycosylation, Type Iig	Renal insufficiency, Hypospadias, Hemolytic-uremic syndrome, Left ventricular hypertrophy, Hydron...	OMIM:611209
Hemochromatosis, Type 1	Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Azoospermia, Cirrhosis, ...	OMIM:235200
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Pericardial And Diaphragmatic Defect	Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morphology, Atrial septal defect,...	ORPHA:2847
Brain Malformations With Or Without Urinary Tract Defects	Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis	OMIM:613735
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Recurrent urinary tract infections, Cor triatriatum, Prominent superficial veins, Secundum atrial...	OMIM:612541
Biliary, Renal, Neurologic, And Skeletal Syndrome	Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricular septal defect, Atri...	OMIM:619534
Renal Hypoplasia, Bilateral	Proteinuria, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta 2-microglobulin...	ORPHA:97362
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Microphthalmia, Optic nerve hypoplasia	OMIM:615181
Endove Syndrome, Limb-Only Type	Vesicoureteral reflux, Hydronephrosis	OMIM:619217
Charge Syndrome	Overriding aorta, Ventricular septal defect, Renal agenesis, Pulmonary artery atresia, Secundum a...	OMIM:214800
Stromme Syndrome	Accessory spleen, Cataract, Optic nerve hypoplasia, Sclerocornea, Bilateral renal hypoplasia, Mic...	OMIM:243605
Congenital Toxoplasmosis	Microphthalmia	ORPHA:858
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Lymphadenitis, Splenomegaly, Recurrent tonsillitis, Lymphad...	OMIM:618935
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal detachment, Cataract, Macular atrophy, Corneal scarring, Buphthalmos, Iris coloboma	OMIM:212550
Caroli Disease	Polycystic kidney dysplasia	ORPHA:53035
Holoprosencephaly 14	Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia	OMIM:619895
Microphthalmia, Syndromic 2	Ventricular septal defect, Dextrocardia, Hypospadias, Patent ductus arteriosus, Hypoplastic aorti...	OMIM:300166
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, ...	ORPHA:824
Toluene Embryopathy	Hydronephrosis, Abnormal localization of kidney	ORPHA:1920
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Hypoplasia of penis, Hydronephrosis	ORPHA:2083
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Ventricular septal defect, Renal cyst, Horseshoe kidney	OMIM:250410
Trisomy 8P	Abnormal atrioventricular connection, Fetal pyelectasis, Abnormal left ventricle morphology, Neph...	ORPHA:264450
Frontonasal Dysplasia 1	Cranium bifidum occultum, Microphthalmia, Anterior basal encephalocele	OMIM:136760
3Mc Syndrome 1	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Hydronephrosis	OMIM:257920
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia	OMIM:613155
Fryns Syndrome	Ureteral duplication, Ectopic pancreatic tissue, Hypospadias, Renal agenesis, Aganglionic megacol...	OMIM:229850
Meckel Syndrome, Type 2	Encephalocele, Microphthalmia, Meningocele, Anencephaly	OMIM:603194
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel...	OMIM:601847
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
Tarp Syndrome	Horseshoe kidney, Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, ...	ORPHA:2886
Elliptocytosis 1	Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis	OMIM:611804
7Q11.23 Microduplication Syndrome	Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Patent ductus arteriosus, Enur...	ORPHA:96121
Temtamy Syndrome	Microphthalmia	ORPHA:1777
Hb Bart'S Hydrops Fetalis	Splenomegaly, Hepatomegaly, Abnormal hemoglobin, Anemia	ORPHA:163596
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Stage 5 chro...	OMIM:268315
Axial Osteomalacia	Renal cyst	OMIM:109130
Digeorge Syndrome	Renal dysplasia, Renal insufficiency, Ventricular septal defect, Unilateral renal agenesis, Paten...	OMIM:188400
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia	OMIM:602501
Bardet-Biedl Syndrome 6	Hypospadias, Renal cyst	OMIM:605231
Toriello-Lacassie-Droste Syndrome	Abnormal penis morphology, Hypospadias, Aganglionic megacolon, Epispadias, Abnormality of the ure...	ORPHA:3339
Complete Androgen Insensitivity Syndrome	Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidism, Blind vagina, ...	ORPHA:99429
Cutis Laxa, Autosomal Recessive, Type Ic	Peripheral pulmonary artery stenosis, Multiple bladder diverticula, Patent foramen ovale, Hydrone...	OMIM:613177
Isotretinoin Embryopathy-Like Syndrome	Conotruncal defect	OMIM:243440
Joubert Syndrome 22	Microphthalmia	OMIM:615665
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,...	OMIM:614841
Developmental And Epileptic Encephalopathy 1	Microphthalmia	OMIM:308350
46,Xx Sex Reversal 2	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal...	OMIM:278850
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Patent foramen ovale, Transposition of the great arteries	OMIM:616789
Musculocontractural Ehlers-Danlos Syndrome	Abnormal heart valve morphology, Functional abnormality of the bladder, Nephrolithiasis, Horsesho...	ORPHA:2953
Cholesteryl Ester Storage Disease	Hepatomegaly, Bone-marrow foam cells, Portal hypertension, Hypersplenism, Thrombocytopenia, Splen...	OMIM:278000
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Unilateral microphthalmos	OMIM:619318
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocyto...	OMIM:613011
Braddock-Carey Syndrome 2	Microphthalmia	OMIM:619981
Netherton Syndrome	Aminoaciduria, Hydronephrosis, Ectopic kidney	ORPHA:634
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia	OMIM:300887
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Chronic active hepatitis, Cataract, Female hypogonadism, Asplenia, Keratoconjunctivitis, Nephroca...	OMIM:240300
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Alagille Syndrome	Cryptorchidism, Nephrotic syndrome, Abnormality of the ureter, Renal hypoplasia/aplasia	ORPHA:52
Nabais Sa-De Vries Syndrome, Type 2	Multicystic kidney dysplasia, Hypoplastic left heart	OMIM:618829
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Poikilocytos...	OMIM:300908
De Barsy Syndrome	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic aortic arch, Prominent veins on ...	ORPHA:2962
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia, Abnormal urinary color	ORPHA:90037
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Microphthalmia	ORPHA:93267
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Abnormal cardiac septum morphology, Hypospadias	ORPHA:2075
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis	ORPHA:66518
Tetraamelia-Multiple Malformations Syndrome	Multicystic kidney dysplasia, Cataract, Septo-optic dysplasia, Cryptorchidism, Optic atrophy, Mic...	ORPHA:3301
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Helsmoortel-Van Der Aa Syndrome	Recurrent urinary tract infections, Cryptorchidism, Enuresis nocturna, Astigmatism, Enlarged kidney	OMIM:615873
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Exocrine pancreatic insuff...	OMIM:612714
Scheie Syndrome	Splenomegaly, Hepatomegaly, Mucopolysacchariduria, Corneal opacity	ORPHA:93474
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Hypospadias, Abnormal renal collecting system morphology, Patent ductus arteriosus, Methylmalonic...	ORPHA:17
Testicular Agenesis	Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o...	ORPHA:325124
Mesomelia-Synostoses Syndrome	Hydronephrosis	ORPHA:2496
Alagille Syndrome 1	Duplicated collecting system, Ventricular septal defect, Multiple small medullary renal cysts, Ve...	OMIM:118450
X-Linked Intellectual Disability Due To Gria3 Mutations	Micropenis, Hydronephrosis	ORPHA:364028
Branchio-Oculo-Facial Syndrome	Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis	ORPHA:1297
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Macular atrophy, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:230800
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone...	OMIM:301078
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Microphthalmia, Lens coloboma, Umbilical hernia	OMIM:618914
46,Xy Sex Reversal 4	Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hydronephrosis, Gonadal dysgenesis, Hypo...	OMIM:154230
Baraitser-Winter Syndrome 2	Microphthalmia	OMIM:614583
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Hepatomegaly, Anemia	OMIM:620296
Apert Syndrome	Overriding aorta, Ventricular septal defect, Hydronephrosis	OMIM:101200
Townes-Brocks Syndrome 2	Hypospadias, Bifid uterus, Rectovaginal fistula, Vesicoureteral reflux, Crossed fused renal ectopia	OMIM:617466
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,...	OMIM:211600
Jacobsen Syndrome	Multicystic kidney dysplasia, Ventricular septal defect, Coarctation of aorta, Hypoplastic left h...	ORPHA:2308
Cataract 5, Multiple Types	Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800
Proximal 16P11.2 Microdeletion Syndrome	Multicystic kidney dysplasia, Dextrocardia, Abnormal heart morphology, Abnormal aortic valve morp...	ORPHA:261197
Cystic Echinococcosis	Renal cyst, Abnormal heart morphology, Ovarian cyst, Membranous nephropathy, Hepatic cysts	ORPHA:400
Exudative Vitreoretinopathy 6	Retinal detachment, Cataract, Patchy atrophy of the retinal pigment epithelium, Nuclear cataract,...	OMIM:616468
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia	OMIM:618805
46,Xy Sex Reversal 7	Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla...	OMIM:233420
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S...	OMIM:224120
Caroli Syndrome	Abnormality of the kidney, Polycystic kidney dysplasia	ORPHA:480520
Meckel Syndrome, Type 10	Micropenis, Hypospadias, Renal cyst	OMIM:614175
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Cataract, Splenomegaly, Optic atrophy, Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Renal a...	OMIM:617913
Dent Disease	Renal insufficiency, Cataract, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy,...	ORPHA:1652
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Keratoconjunctivitis ...	OMIM:617388
Meckel Syndrome	Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, Cataract, Pancreatic fibros...	ORPHA:564
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system, Leukocoria	OMIM:257910
Glycogen Storage Disease Ixc	Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased hepatic glycogen content	OMIM:613027
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome	Hydronephrosis	ORPHA:488613
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Mosaic Variegated Aneuploidy Syndrome 1	Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Renal cyst, Pulmonic stenosis, Atrial ...	OMIM:257300
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Wrinkly Skin Syndrome	Muscular ventricular septal defect, Atrial septal dilatation	OMIM:278250
Bile Acid Synthesis Defect, Congenital, 2	Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis	OMIM:235555
Pelvis-Shoulder Dysplasia	Microphthalmia, Spina bifida occulta	OMIM:169550
Roberts Syndrome	Long penis, Polycystic kidney dysplasia	ORPHA:3103
17Q12 Microduplication Syndrome	Microphthalmia	ORPHA:261272
Craniofacial Microsomia 1	Multicystic kidney dysplasia, Ventricular septal defect, Renal agenesis, Ectopic kidney, Patent d...	OMIM:164210
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia	OMIM:613153
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Ureteral duplication, Sparse scalp hair, Fair hair, Pancreatic cysts, Stage 5 chronic kidney dise...	OMIM:266920
Hydrolethalus	Microphthalmia, Anophthalmia, Anencephaly	ORPHA:2189
Congenital Disorder Of Glycosylation, Type Ia	Pericarditis, Proteinuria, Pericardial effusion, Renal cyst, Stroke-like episode, Cardiomyopathy,...	OMIM:212065
Roberts-Sc Phocomelia Syndrome	Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Long penis, Horseshoe kidney, P...	OMIM:268300
Peroxisome Biogenesis Disorder 4B	Ureterocele	OMIM:614863
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia	ORPHA:2788
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Optic nerve hypoplasia	OMIM:614833
Bile Acid Synthesis Defect, Congenital, 1	Hepatomegaly, Giant cell hepatitis, Splenomegaly, Jaundice, Intrahepatic cholestasis, Acholic sto...	OMIM:607765
8Q24.3 Microdeletion Syndrome	Ventricular septal defect, Abnormality of the kidney, Unilateral renal agenesis, Complete atriove...	ORPHA:508488
Tuberous Sclerosis 1	Renal cyst, Cardiac rhabdomyoma, Renal cell carcinoma, Renal angiomyolipoma, Pulmonary lymphangio...	OMIM:191100
Koolen-De Vries Syndrome Due To A Point Mutation	Recurrent urinary tract infections, Bicuspid aortic valve, Ventricular septal defect, Hypospadias...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Recurrent urinary tract infections, Bicuspid aortic valve, Ventricular septal defect, Hypospadias...	ORPHA:363958
Seckel Syndrome 2	Microphthalmia	OMIM:606744
Hydatidiform Mole	Enlarged uterus, Anemia	ORPHA:99927
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:165550
Otopalatodigital Syndrome Type 2	Abnormal heart valve morphology, Hypospadias, Ureteral obstruction, Abnormal cardiac septum morph...	ORPHA:90652
Cardiofaciocutaneous Syndrome	Abnormal heart valve morphology, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyop...	ORPHA:1340
Chromosome 2P16.1-P15 Deletion Syndrome	Micropenis, Hydronephrosis	OMIM:612513
Autoimmune Polyendocrine Syndrome, Type Ii	Cataract, Band keratopathy, Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Keratoconjunctivitis...	OMIM:269200
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Intrahepatic cholestasis, Splenomegaly, Jaundice, Hepatitis, Acholic stools, Bile d...	OMIM:613812
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Death in infancy, Renal malrotation, Pancreatic cysts, Dilatation of the re...	OMIM:274000
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc...	ORPHA:3202
Simpson-Golabi-Behmel Syndrome, Type 1	Hepatomegaly, Hypospadias, Splenomegaly, Cryptorchidism, Renal cyst, Duplication of renal pelvis,...	OMIM:312870
Micro Syndrome	Hypoplasia of penis, Hydronephrosis, Abnormal localization of kidney	ORPHA:2510
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Ventricular septal defect, Bicuspid aortic valve, Vesicoureteral reflux, Abnormal heart morpholog...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Ventricular septal defect, Bicuspid aortic valve, Vesicoureteral reflux, Abnormal heart morpholog...	ORPHA:352665
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Smith-Lemli-Opitz Syndrome	Ureteropelvic junction obstruction, Duplicated collecting system, Hypospadias, Ventricular septal...	OMIM:270400
Trisomy 18	Atrial septal defect, Ventricular septal defect, Hydronephrosis, Abnormality of the upper urinary...	ORPHA:3380
Knobloch Syndrome	Vesicoureteral reflux, Pyloric stenosis, Bifid ureter, Abnormal hair morphology	ORPHA:1571
8P11.2 Deletion Syndrome	Hemolytic anemia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Splenomegaly, Cryptorchidis...	ORPHA:251066
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Hypospadias, Unilateral renal agenesis, Patent ductus arteriosus, Abnormal heart morphology, Tota...	ORPHA:487796
Spondylo-Ocular Syndrome	Microphthalmia, Aplasia/Hypoplasia of the lens	ORPHA:85194
Budd-Chiari Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Cholecystitis, Cirrhosis,...	ORPHA:131
Cerebrooculofacioskeletal Syndrome 1	Microphthalmia	OMIM:214150
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hemolytic anemia, Hepatomegaly, Cataract, Splenomegaly, Jaundice, Nuclear cataract, Stomatocytosis	OMIM:608885
Cardiofaciocutaneous Syndrome 1	Atrial septal defect, Hypertrophic cardiomyopathy, Hydronephrosis, Pulmonic stenosis	OMIM:115150
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Abnormal cardiac septum morphology, Hydronephrosis, Unilateral renal agenesis, Single ventricle	OMIM:308050
Erdheim-Chester Disease	Renal insufficiency, Dysuria, Abnormal pericardium morphology, Abnormal aortic valve morphology, ...	ORPHA:35687
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Webb-Dattani Syndrome	Vesicoureteral reflux, Neurogenic bladder, Hyposthenuria, Hydronephrosis	OMIM:615926
Autoimmune Hemolytic Anemia, Warm Type	Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Chronic lymphatic le...	ORPHA:90033
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Multicystic kidney dysplasia, Renal cyst	ORPHA:2031
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Bilateral microphthalmos, Optic nerve hypoplasia, Ethmoidal encephalocele	OMIM:607597
Perlman Syndrome	Nephrogenic rest, Renal hamartoma, Nephroblastomatosis, Interrupted aortic arch, Nephroblastoma	OMIM:267000
Smith-Lemli-Opitz Syndrome	Ureteropelvic junction obstruction, Hypoplasia of penis, Multicystic kidney dysplasia, Ventricula...	ORPHA:818
Myelofibrosis	Splenomegaly, Myeloproliferative disorder	OMIM:254450
2Q37 Microdeletion Syndrome	Multicystic kidney dysplasia, Abnormal aortic morphology, Nephroblastoma	ORPHA:1001
Kleefstra Syndrome 1	Micropenis, Abnormal renal morphology, Hypospadias, Conotruncal defect	OMIM:610253
Tuberous Sclerosis 2	Absence of renal corticomedullary differentiation, Renal cyst, Cardiac rhabdomyoma, Renal cell ca...	OMIM:613254
Tetrasomy 9P	Renal dysplasia, Pericarditis, Recurrent urinary tract infections, Juxtaductal coarctation of the...	ORPHA:3310
Bresek Syndrome	Microphthalmia, Optic nerve hypoplasia	ORPHA:85284
Ring Chromosome 10 Syndrome	Microphthalmia	ORPHA:1438
Cataract 20, Multiple Types	Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract	OMIM:116100
Charge Syndrome	Aortic arch aneurysm, Patent ductus arteriosus, Horseshoe kidney, Abnormal cardiac septum morphol...	ORPHA:138
Acitretin/Etretinate Embryopathy	Atrioventricular canal defect, Conotruncal defect	ORPHA:40366
Nance-Horan Syndrome	Microphthalmia	ORPHA:627
Floating-Harbor Syndrome	Hypospadias, Glandular hypospadias, Coarctation of aorta, Nephrocalcinosis, Congenital posterior ...	OMIM:136140
Histiocytoid Cardiomyopathy	Ventricular septal defect, Cardiomegaly, Renal cyst, Stroke-like episode, Polycystic ovaries	ORPHA:137675
Congenital Muscular Dystrophy With Cerebellar Involvement	Microphthalmia, Occipital encephalocele, Optic nerve hypoplasia	ORPHA:370959
Microphthalmia, Syndromic 5	Cataract, Optic nerve hypoplasia, Cryptorchidism, Microcornea, Micropenis	OMIM:610125
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Lymphadenopathy	OMIM:619183
1P36 Deletion Syndrome	Aortic arch aneurysm, Hypoplasia of penis, Abnormal heart valve morphology, Hypospadias, Abnormal...	ORPHA:1606
Microgastria-Limb Reduction Defect Syndrome	Multicystic kidney dysplasia, Crossed fused renal ectopia, Renal agenesis, Renal hypoplasia/aplas...	ORPHA:2538
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis	OMIM:618042
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy...	ORPHA:86843
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Tetralogy of Fallot, Pat...	OMIM:618748
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Encephalocele, Microphthalmia	ORPHA:228390
Au-Kline Syndrome	Chronic kidney disease, Dilatation of the renal pelvis, Aortic root aneurysm, Vesicoureteral refl...	OMIM:616580
2P15P16.1 Microdeletion Syndrome	Multicystic kidney dysplasia, Hydronephrosis	ORPHA:261349
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia	ORPHA:3191
Neurooculocardiogenitourinary Syndrome	Microphthalmia	OMIM:618652
Bartsocas-Papas Syndrome 2	Microphthalmia	OMIM:619339
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Anis...	ORPHA:263479
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Right aortic arch, Ventricular septal defect	ORPHA:513456
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia	OMIM:610756
Cerebrocostomandibular Syndrome	Ventricular septal defect, Ectopic kidney, Patent ductus arteriosus, Horseshoe kidney, Renal cyst...	OMIM:117650
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Re...	OMIM:614643
Granulomatosis With Polyangiitis	Glomerulopathy, Pericarditis, Ureteral stenosis, Renal insufficiency, Proteinuria, Vasculitis, He...	ORPHA:900
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia	OMIM:618398
Chromosome 16Q12 Duplication Syndrome	Anisocoria, Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor	OMIM:619649
Pfeiffer Syndrome Type 3	Vesicoureteral reflux, Hydronephrosis, Horseshoe kidney	ORPHA:93260
Schwartz-Jampel Syndrome	Decreased testicular size, Death in infancy, Abnormal eyebrow morphology, Abnormality of the uret...	ORPHA:800
Encephalocraniocutaneous Lipomatosis	Coarctation of aorta, Abnormal aortic morphology, Interrupted aortic arch, Tricuspid valve prolap...	ORPHA:2396
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urethral stricture, Ventricular septal defect, Urinary incontinence, Hypospadias, Renal agenesis,...	OMIM:619522
Adams-Oliver Syndrome 2	Microphthalmia	OMIM:614219
15Q Overgrowth Syndrome	Ureterovesical stenosis, Abnormal renal morphology, Horseshoe kidney, Nephroblastoma, Hydronephrosis	ORPHA:314585
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Bicuspid aortic valve, Ventricular septal defect, Anomalous origin of left subclavian artery, Pat...	ORPHA:438213
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microphthalmia	OMIM:614105
Thrombocytopenia-Absent Radius Syndrome	Abnormality of the kidney, Horseshoe kidney, Aplasia of the uterus, Axial malrotation of the kidn...	ORPHA:3320
Ververi-Brady Syndrome	Transposition of the great arteries	OMIM:617982
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Abnormally large globe	OMIM:615249
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia	OMIM:167730
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria	ORPHA:2714
Okamoto Syndrome	Ureteropelvic junction obstruction, Ventricular septal defect, Urinary incontinence, Abnormal lef...	ORPHA:2729
X-Linked Dominant Chondrodysplasia Punctata	Hydronephrosis	ORPHA:35173
Tetraamelia Syndrome 1	Cataract, Renal agenesis, Hypoplasia of the fallopian tube, Absent external genitalia, Asplenia, ...	OMIM:273395
Cornelia De Lange Syndrome 1	Ventricular septal defect, Hypospadias, Proteinuria, Ectopic kidney, Abnormal renal morphology, V...	OMIM:122470
Ileal Neuroendocrine Tumor	Hydronephrosis, Tricuspid stenosis, Pulmonic stenosis	ORPHA:100078
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia	OMIM:612379
Loeys-Dietz Syndrome 2	Aortic arch aneurysm, Bicuspid aortic valve, Arterial tortuosity, Descending thoracic aorta aneur...	OMIM:610168
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Ventricular septal defect, Renal hypoplasia/aplasia, Abnormal renal morphology, Abnormal heart mo...	ORPHA:363700
Rodrigues Blindness	Microphthalmia	OMIM:268320
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Duplicated collecting system, Hydronephrosis	ORPHA:541423
Mosaic Variegated Aneuploidy Syndrome	Multicystic kidney dysplasia, Coarctation of aorta, Abnormal aortic morphology, Subvalvular aorti...	ORPHA:1052
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Hypospadias, Precocious puberty in females, Bilateral cryptorchidism, Female exter...	ORPHA:90793
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Hypospadias, Sclerocornea, Ovotestis, Hypoplasia of the uterus, Pigmentary retinopathy,...	OMIM:309801
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Hypoplastic aortic arch, Unilateral renal agenesis	ORPHA:457284
Carey-Fineman-Ziter Syndrome	Hydronephrosis, Glandular hypospadias	ORPHA:1358
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia	OMIM:152950
Frontofacionasal Dysplasia	Encephalocele, Microphthalmia	ORPHA:1791
Microphthalmia, Syndromic 1	Hydroureter, Hypospadias, Aganglionic megacolon, Renal hypoplasia/aplasia, High, narrow palate, R...	OMIM:309800
Restrictive Dermopathy 1	Ureteral duplication, Hypospadias, Sparse eyelashes, Short nail, Absent eyelashes, Sparse eyebrow...	OMIM:275210
Hyperphosphatasia-Intellectual Disability Syndrome	Hydronephrosis	ORPHA:247262
Monosomy 18P	Microphthalmia	ORPHA:1598
Hyper-Igd Syndrome	Optic disc pallor, Neutrophilia, Lymphadenitis, Leukocytosis, Splenomegaly, Lymphadenopathy, Hepa...	OMIM:260920
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Renal cyst, Vesicoureteral refl...	OMIM:616975
Peters Plus Syndrome	Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Patent...	ORPHA:709
Familial Adenomatous Polyposis 4	Ovarian cyst, Renal cyst	OMIM:617100
Multiple Benign Circumferential Skin Creases On Limbs	Microphthalmia, Umbilical hernia	ORPHA:2505
Distal Renal Tubular Acidosis	Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,...	ORPHA:18
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Splenomegaly, Nephroblastoma, Renal hypoplasia	OMIM:612918
Short-Rib Thoracic Dysplasia 12	Ventricular septal defect, Patent ductus arteriosus, Renal hypoplasia, Patent foramen ovale, Cyst...	OMIM:269860
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Clitoral hypertrophy, Renal salt wasting, Female external genitalia in individual with 46,XY kary...	ORPHA:168558
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Nephrocalcinos...	OMIM:616084
Pelvis-Shoulder Dysplasia	Hydronephrosis	ORPHA:2839
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Duplicated collecting system, Hydronephrosis	OMIM:617093
Aniridia 1	Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia lentis, Corneal erosion,...	OMIM:106210
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia	OMIM:619053
Kabuki Syndrome 1	Crossed fused renal ectopia, Ventricular septal defect, Micropenis, Coarctation of aorta, Atrial ...	OMIM:147920
Temtamy Syndrome	Microphthalmia	OMIM:218340
Doors Syndrome	Increased urine alpha-ketoglutarate concentration, Nephrocalcinosis, Abnormality of the urinary s...	ORPHA:79500
Oculoauricular Syndrome	Retinal detachment, Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Poste...	OMIM:612109
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia	OMIM:300863
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia	ORPHA:163649
Solitary Median Maxillary Central Incisor	Microphthalmia, Anophthalmia	OMIM:147250
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Anophthalmia	ORPHA:139471
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Orofaciodigital Syndrome Type 1	Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Pancreatic cysts, Hydronephrosis,...	ORPHA:2750
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Cardiomegaly, Splenomegaly, Opacification of the corneal stroma	OMIM:231005
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Clitoral hypertrophy, Renal salt wasting, Female external genitalia in individual with 46,XY kary...	ORPHA:289548
Poland Syndrome	Duplicated collecting system, Hypospadias, Renal hypoplasia/aplasia, Cryptorchidism, Renal hypopl...	ORPHA:2911
Peroxisome Biogenesis Disorder 4A (Zellweger)	Renal cyst	OMIM:614862
Sitosterolemia 1	Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Corneal arcus, Stomatocytosis, ...	OMIM:210250
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Umbilical hernia, Bilateral microphthalmos	ORPHA:369891
Feingold Syndrome 1	Ventricular septal defect, Tricuspid stenosis, Patent ductus arteriosus, Interrupted aortic arch,...	OMIM:164280
Bardet-Biedl Syndrome	Nephrotic syndrome, Hypoplasia of penis, Multicystic kidney dysplasia	ORPHA:110
Arboleda-Tham Syndrome	Recurrent urinary tract infections, Ventricular septal defect, Secundum atrial septal defect, Pat...	OMIM:616268
Cutis Marmorata Telangiectatica Congenita	Multicystic kidney dysplasia, Patent ductus arteriosus, Arterial stenosis, Arteriovenous malforma...	ORPHA:1556
Focal Dermal Hypoplasia	Ureteral duplication, Brittle hair, Intestinal malrotation, Supernumerary nipple, Hiatus hernia, ...	OMIM:305600
Cystinosis, Nephropathic	Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Male hypogonadism, Hepat...	OMIM:219800
Moebius Syndrome	Microphthalmia	OMIM:157900
Congenital Myopathy 17	Hydronephrosis, Ureteropelvic junction obstruction, Renal hypoplasia	OMIM:618975
Congenital Bile Acid Synthesis Defect Type 2	Dark urine, Renal cyst	ORPHA:79303
Mowat-Wilson Syndrome	Hypospadias, Ventricular septal defect, Abnormality of the kidney, Pulmonary artery sling, Patent...	OMIM:235730
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Multicystic kidney dysplasia, Fetal megacystis	ORPHA:73246
Skin Creases, Congenital Symmetric Circumferential, 2	Hypospadias, Cryptorchidism, Synophrys, Low anterior hairline, Cleft palate, Ureterocele	OMIM:616734
Baraitser-Winter Syndrome 1	Microphthalmia	OMIM:243310
Alveolar Echinococcosis	Abnormal pericardium morphology, Pancreatic cysts, Renal cyst, Abnormal bladder morphology, Hepat...	ORPHA:284
Fanconi Anemia, Complementation Group S	Microphthalmia	OMIM:617883
Meckel Syndrome, Type 6	Aplasia of the bladder, Hepatic cysts, Renal cyst, Horseshoe kidney	OMIM:612284
Rere-Related Neurodevelopmental Syndrome	Microphthalmia	ORPHA:494344
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Anophthalmia	ORPHA:77298
Stevenson-Carey Syndrome	Microphthalmia	OMIM:611961
Meckel Syndrome, Type 3	Multicystic kidney dysplasia	OMIM:607361
Early Infantile Epileptic Encephalopathy	Cleft palate, Micropenis, Renal dysplasia, Ureterocele	ORPHA:1934
Al-Gazali Syndrome	Hydronephrosis	OMIM:609465
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Dilated cardiomyopathy, Myocardial fibrosis, Transposition of the great arteries, Pulmonic stenos...	OMIM:253800
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Recurrent urinary tract infections, Hypoplasia of penis, Abnormality of the kidney, Hydronephrosis	ORPHA:847
Familial Tumoral Calcinosis	Splenomegaly, Hepatomegaly, Nephrocalcinosis	ORPHA:53715
Chromosome 17Q12 Duplication Syndrome	Microphthalmia	OMIM:614526
Otodental Syndrome	Microphthalmia, Lens coloboma	ORPHA:2791
Mosaic Trisomy 8	Vesicoureteral reflux, Hydronephrosis	ORPHA:96061
Chondrodysplasia Punctata 2, X-Linked Dominant	Hydronephrosis	OMIM:302960
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Campomelia, Cumming Type	Pancreatic cysts, Multicystic kidney dysplasia, Multiple renal cysts	ORPHA:1318
Occipital Horn Syndrome	Hydronephrosis, Bladder diverticulum, Ureteral obstruction, Carotid artery tortuosity	OMIM:304150
Von Hippel-Lindau Disease	Elevated urinary catecholamine level, Pancreatic cysts, Myocarditis, Cardiomyopathy, Renal cell c...	ORPHA:892
Apolipoprotein C-Ii Deficiency	Splenomegaly, Hepatomegaly, Pancreatitis	OMIM:207750
Visceral Myopathy 1	Vesicoureteral reflux, Urinary retention, Megacystis, Hydronephrosis	OMIM:155310
Cerebrocostomandibular Syndrome	Multicystic kidney dysplasia, Ventricular septal defect	ORPHA:1393
Schinzel-Giedion Syndrome	Streak ovary, Hypospadias, Nephroblastoma, Aganglionic megacolon, Abnormality of the ureter, Neph...	ORPHA:798
Harrod Syndrome	Multicystic kidney dysplasia, Hypospadias	ORPHA:2115
Frontometaphyseal Dysplasia	Hydronephrosis, Urethral stenosis, Ureteral obstruction, Abnormal heart morphology	ORPHA:1826
Autosomal Recessive Spastic Paraplegia Type 20	Hydronephrosis, Dysuria	ORPHA:101000
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, H...	ORPHA:93111
Gracile Bone Dysplasia	Aniridia, Microphthalmia	OMIM:602361
Ulbright-Hodes Syndrome	Abnormal penis morphology, Renal hypoplasia, Polycystic kidney dysplasia	ORPHA:3404
Liver Disease, Severe Congenital	Recurrent urinary tract infections, Ventricular septal defect, Left atrial enlargement, Hypospadi...	OMIM:619991
Fanconi Anemia, Complementation Group I	Microphthalmia, Optic nerve hypoplasia	OMIM:609053
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia	ORPHA:163966
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia	ORPHA:404440
Fanconi Anemia, Complementation Group L	Unilateral renal agenesis, Renal hypoplasia, Bone marrow hypocellularity, Aplasia of the uterus, ...	OMIM:614083
Matthew-Wood Syndrome	Microphthalmia, Anophthalmia	ORPHA:2470
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Lymphangioleiomyomatosis	Abnormal urinary color, Renal neoplasm, Chylopericardium, Hematuria, Multiple renal cysts, Renal ...	ORPHA:538
Familial Mediterranean Fever	Hepatomegaly, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Stage 5 chronic ki...	OMIM:249100
Microphthalmia With Limb Anomalies	Microphthalmia, Anophthalmia	OMIM:206920
Norrie Disease	Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto...	ORPHA:649
Mody	Nephropathy, Abnormality of the kidney, Renal cyst, Glycosuria	ORPHA:552
Frontorhiny	Encephalocele, Microphthalmia, Cranium bifidum occultum, Basal encephalocele	ORPHA:391474
Melnick-Needles Syndrome	Ureteral stenosis, Hydronephrosis, Tricuspid valve prolapse, Mitral valve prolapse	OMIM:309350
Campomelic Dysplasia	Hydronephrosis	ORPHA:140
Atelis Syndrome 2	Thrombocytopenia, Remnants of the hyaloid vascular system, Anemia, Developmental cataract	OMIM:620185
Curry-Jones Syndrome	Microphthalmia	ORPHA:1553
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Williams Syndrome	Hypoplasia of penis, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, ...	ORPHA:904
Msh3-Related Attenuated Familial Adenomatous Polyposis	Ovarian dermoid cyst, Renal cyst	ORPHA:480536
Trichothiodystrophy 3, Photosensitive	Microphthalmia	OMIM:616395
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia, Bilateral microphthalmos	ORPHA:2399
Warburg Micro Syndrome 4	Microphthalmia	OMIM:615663
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Hydronephrosis	ORPHA:254528
Congenital Fibrinogen Deficiency	Microphthalmia	ORPHA:335
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Patent ductus arteriosus, Renal hypoplasia, Renal cyst	OMIM:616300
Restrictive Dermopathy	Ureteral duplication, Hypospadias, Short nail, Sparse eyebrow, Aplasia/Hypoplastia of the eccrine...	ORPHA:1662
Microphthalmia, Isolated, With Coloboma 9	Microphthalmia	OMIM:615145
Knobloch Syndrome 1	Duplicated collecting system, Pyloric stenosis, Alopecia of scalp, Horizontal eyebrow, Bifid uret...	OMIM:267750
Proboscis Lateralis	Abnormal eyebrow morphology, Abnormal location of the eyebrow, Unilateral renal agenesis, Uretera...	ORPHA:141099
Joubert Syndrome 2	Renal insufficiency, Renal cyst, Nephronophthisis	OMIM:608091
Osteopathia Striata With Cranial Sclerosis	Atrial septal defect, Multicystic kidney dysplasia, Patent ductus arteriosus, Ventricular septal ...	OMIM:300373
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hypoplasia of the uterus, Aplasia of the vagina	OMIM:277000
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia	OMIM:617306
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Ventricular septal defect, Pulmonary artery stenosis, Abnormal aortic arch morphology, Atrial sep...	ORPHA:96334
Fanconi Anemia, Complementation Group R	Microphthalmia	OMIM:617244
Refsum Disease	Microphthalmia	ORPHA:773
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Absent external genitalia, Urethral atresia, Aplasia of the vagina, Aplasia of the uterus, Hydron...	OMIM:271520
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia	OMIM:616538
3P25.3 Microdeletion Syndrome	Microphthalmia	ORPHA:435638
Warburg Micro Syndrome 3	Microphthalmia	OMIM:614222
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Renal cyst	OMIM:615560
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bicuspid aortic valve, Urinary incontinence, Vesicoureteral reflux, Webbed penis, Micropenis, Pel...	ORPHA:261552
Marden-Walker Syndrome	Microphthalmia	OMIM:248700
Walker-Warburg Syndrome	Microphthalmia, Anophthalmia	ORPHA:899
Porphyria, Congenital Erythropoietic	Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Red urine, Corneal scarring, Conjunctivit...	OMIM:263700
Sotos Syndrome	Ureteral duplication, Renal insufficiency, Ventricular septal defect, Hypospadias, Abnormality of...	ORPHA:821
Cranioectodermal Dysplasia 2	Renal insufficiency, Patent ductus arteriosus, Renal cyst, Atrial septal defect, Left ventricular...	OMIM:613610
Fetal Alcohol Syndrome	Microphthalmia	ORPHA:1915
Townes-Brocks Syndrome	Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormal pulmonary valve morphology, Abnor...	ORPHA:857
Osteogenesis Imperfecta, Type Vii	Absent pulmonary artery, Hydronephrosis, Hypoplastic pulmonary veins	OMIM:610682
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:233710
Radio-Renal Syndrome	Multicystic kidney dysplasia, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia	ORPHA:3015
Robinow Syndrome, Autosomal Recessive 1	Nephrolithiasis, Nephrocalcinosis, Micropenis, Hydronephrosis, Renal duplication	OMIM:268310
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Multicystic kidney dysplasia, Bicuspid aortic valve, Abnormal pulmonary valve morphology, Urinary...	ORPHA:261537
Parenteral Nutrition-Associated Cholestasis	Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomegaly, Jaundice, Hepatic fibrosis,...	ORPHA:567983
Hyperlipoproteinemia, Type I	Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly	OMIM:238600
Lipodystrophy, Congenital Generalized, Type 1	Hepatomegaly, Acute pancreatitis, Splenomegaly, Labial hypertrophy, Nephrolithiasis, Polycystic o...	OMIM:608594
Chromosome 13Q33-Q34 Deletion Syndrome	Encephalocele, Microphthalmia, Anencephaly	OMIM:619148
Familial Exudative Vitreoretinopathy	Microphthalmia	ORPHA:891
Eec Syndrome	Hypospadias, Renal hypoplasia/aplasia, Urethral atresia, Vesicoureteral reflux, Hydronephrosis	ORPHA:1896
Mowat-Wilson Syndrome	Multicystic kidney dysplasia, Bicuspid aortic valve, Urinary incontinence, Hypospadias, Abnormali...	ORPHA:2152
Adams-Oliver Syndrome	Encephalocele, Microphthalmia	ORPHA:974
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Mitral valve prolapse, Nephrotic syndrome, Tricuspid valve prolapse, Atrial septal defect, Hydron...	OMIM:601776
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Renal insufficiency, Proteinuria, Pancreatic cysts, Chronic kidney disease, Renal cyst, Nephritis	OMIM:208500
Hydrolethalus Syndrome 1	Complete atrioventricular canal defect, Ventricular septal defect, Hydronephrosis, Hypospadias	OMIM:236680
Castleman Disease	Hematuria, Renal insufficiency, Ureteral obstruction, Intestinal obstruction	ORPHA:160
Cousin Syndrome	Hydronephrosis	OMIM:260660
Dubowitz Syndrome	Hypospadias, Hydronephrosis	ORPHA:235
Hajdu-Cheney Syndrome	Ventricular septal defect, Mitral stenosis, Hypospadias, Patent ductus arteriosus, Multiple renal...	ORPHA:955
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Buphthalmos, Microphthalmia, Encephalocele	OMIM:613150
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia	OMIM:620098
Hyperparathyroidism-Jaw Tumor Syndrome	Renal insufficiency, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinos...	ORPHA:99880
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi...	OMIM:600740
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia	OMIM:612530
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas...	OMIM:202010
Trichothiodystrophy 4, Nonphotosensitive	Microphthalmia	OMIM:234050
Immunodeficiency 96	Multicystic kidney dysplasia	OMIM:619774
Genitopatellar Syndrome	Multicystic kidney dysplasia, Ventricular septal defect, Atrial septal defect, Micropenis, Hydron...	OMIM:606170
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Renal interstitial edema, Sterile pyuria, Tubulointerstitial nephritis, Aminoa...	ORPHA:91500
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Cataract, Band keratopathy, Bicarbonaturia, Bicarbonate-wasting renal tubular ...	ORPHA:47159
Oculofaciocardiodental Syndrome	Microphthalmia	ORPHA:2712
Holoprosencephaly 3	Hydronephrosis	OMIM:142945
Peroxisome Biogenesis Disorder 1B	Hyperoxaluria, Renal cyst	OMIM:601539
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia	ORPHA:1806
Parathyroid Carcinoma	Renal insufficiency, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinos...	ORPHA:143
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Microphthalmia	OMIM:241410
Townes-Brocks Syndrome 1	Multicystic kidney dysplasia, Renal insufficiency, Ventricular septal defect, Hypospadias, Urethr...	OMIM:107480
Intellectual Developmental Disorder, Autosomal Dominant 42	Hydronephrosis, Ureteropelvic junction obstruction, Neurogenic bladder	OMIM:616973
3Q29 Microduplication Syndrome	Aniridia, Microphthalmia	ORPHA:251038
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Moderate albuminuria, Hydronephrosis	OMIM:619269
Gabriele-De Vries Syndrome	Ureteropelvic junction obstruction, Ebstein anomaly of the tricuspid valve, Patent foramen ovale,...	ORPHA:506358
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia	OMIM:618571
Joubert Syndrome 1	Nephropathy, Renal cyst	OMIM:213300
Ritscher-Schinzel Syndrome 3	Microphthalmia	OMIM:619135
Frontonasal Dysplasia 2	Encephalocele, Microphthalmia	OMIM:613451
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Johanson-Blizzard Syndrome	Ventricular septal defect, Hypospadias, Urethrovaginal fistula, Situs inversus totalis, Dilated c...	OMIM:243800
Hyperlipoproteinemia, Type Id	Splenomegaly, Hepatomegaly, Recurrent pancreatitis, Pancreatitis	OMIM:615947
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microphthalmia	ORPHA:2728
Vacterl With Hydrocephalus	Microphthalmia, Anophthalmia, Spina bifida	ORPHA:3412
Neuromuscular Oculoauditory Syndrome	Reduced renal corticomedullary differentiation, Multiple renal cysts	OMIM:618733
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia	ORPHA:1352
Cerebrooculofacioskeletal Syndrome 4	Bilateral microphthalmos	OMIM:610758
Peters-Plus Syndrome	Ureteral duplication, Hypospadias, Ventricular septal defect, Patent ductus arteriosus, Renal hyp...	OMIM:261540
Osteopetrosis With Renal Tubular Acidosis	Nephrolithiasis, Proximal renal tubular acidosis, Renal tubular acidosis, Distal renal tubular ac...	ORPHA:2785
Curry-Jones Syndrome	Occipital meningocele, Microphthalmia, Lipomyelomeningocele	OMIM:601707
Martsolf Syndrome 1	Microphthalmia	OMIM:212720
Warburg Micro Syndrome 2	Microphthalmia	OMIM:614225
Campomelic Dysplasia	Hypospadias, Hydronephrosis, Abnormal heart morphology	OMIM:114290
Pseudotrisomy 13 Syndrome	Encephalocele, Microphthalmia	OMIM:264480
Nijmegen Breakage Syndrome	Recurrent urinary tract infections, Hydronephrosis	OMIM:251260
Pearson Syndrome	Renal insufficiency, Proteinuria, Lacticaciduria, Renal cyst, Abnormal heart morphology, Cardiomy...	ORPHA:699
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Fused labia majora, Clitoral hypertrophy, Hypogonadotropic hypogonadism, Abnormal external genita...	ORPHA:90794
Pontocerebellar Hypoplasia Type 7	Abnormal scrotal rugation, Cryptorchidism, Optic atrophy, Gonadal dysgenesis, Microphallus, Absen...	ORPHA:284339
Joubert Syndrome With Hepatic Defect	Nephropathy, Multicystic kidney dysplasia, Renal insufficiency	ORPHA:1454
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Cyst of the ductus choledochus, Patent ductus arteriosus, Hydronephrosis, Cardiomyopathy, Atrial ...	ORPHA:480880
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Optic nerve hypoplasia, Meningoencephalocele, Buphthalmos, Microphthalmia	OMIM:236670
Von Hippel-Lindau Syndrome	Pancreatic cysts, Renal cell carcinoma, Multiple renal cysts, Epididymal cyst	OMIM:193300
Kapur-Toriello Syndrome	Microphthalmia	OMIM:244300
Atelosteogenesis Type I	Multiple renal cysts	ORPHA:1190
Oculodentodigital Dysplasia, Autosomal Recessive	Microphthalmia	OMIM:257850
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia	OMIM:156610
Wiedemann-Rautenstrauch Syndrome	Prominent scalp veins, Recurrent urinary tract infections, Hypospadias, Congenital malformation o...	ORPHA:3455
Otopalatodigital Syndrome, Type Ii	Atrial septal defect, Hypospadias, Hydronephrosis, Dilatation of the sinus of Valsalva	OMIM:304120
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Anophthalmia	OMIM:615877
Trichothiodystrophy 1, Photosensitive	Microphthalmia	OMIM:601675
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Ventricular septal defect, Hydronephrosis	OMIM:620330
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Micropenis, Multicystic kidney dysplasia, Hydronephrosis	OMIM:615287
Trisomy 10P	Multiple renal cysts, Abnormality of the kidney, Abnormal heart morphology	ORPHA:171929
Microcephaly-Micromelia Syndrome	Microphthalmia	OMIM:251230
Incontinentia Pigmenti	Microphthalmia, Spina bifida occulta, Umbilical hernia	ORPHA:464
D-Bifunctional Protein Deficiency	Renal cyst	OMIM:261515
Monosomy 9Q22.3	Microphthalmia, Umbilical hernia	ORPHA:77301
Lacrimoauriculodentodigital Syndrome	Vesicoureteral reflux, Patent ductus arteriosus, Renal hypoplasia, Hydronephrosis	ORPHA:2363
8Q21.11 Microdeletion Syndrome	Microphthalmia	ORPHA:284160
Split Cord Malformation	Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Functional...	ORPHA:573278
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia	OMIM:618727
Monosomy 22Q13.3	Vesicoureteral reflux, Recurrent pyelonephritis, Renal dysplasia, Hydronephrosis	ORPHA:48652
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia	OMIM:610651
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia	OMIM:278730
3Q29 Microdeletion Syndrome	Microphthalmia	ORPHA:65286
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Microphthalmia, Umbilical hernia	ORPHA:2166
Acromelic Frontonasal Dysostosis	Cryptorchidism, Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:603671
Chromosome 8Q21.11 Deletion Syndrome	Microphthalmia	OMIM:614230
Cohen Syndrome	Microphthalmia	ORPHA:193
Full Nf2-Related Schwannomatosis	Posterior subcapsular cataract, Remnants of the hyaloid vascular system, Cortical cataract	ORPHA:637
Microphthalmia, Syndromic 3	Microphthalmia, Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia	OMIM:206900
Holoprosencephaly	Encephalocele, Anophthalmia, Spinal dysraphism, Branchial anomaly, Microphthalmia	ORPHA:2162
Hallermann-Streiff Syndrome	Microphthalmia, Spina bifida	OMIM:234100
Galloway-Mowat Syndrome 1	Hypoplasia of the iris, Microphthalmia	OMIM:251300
Phace Association	Microphthalmia, Optic nerve hypoplasia	OMIM:606519
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia	OMIM:300952
Galloway-Mowat Syndrome 3	Microphthalmia	OMIM:617729
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia	OMIM:110100
Attenuated Familial Adenomatous Polyposis	Multiple renal cysts	ORPHA:220460
Neuroocular Syndrome	Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Lens coloboma, Blue irides, ...	OMIM:619539
Ohdo Syndrome, X-Linked	Microphthalmia	OMIM:300895
Fanconi Anemia, Complementation Group F	Microphthalmia	OMIM:603467
Premature Aging Syndrome, Penttinen Type	Microphthalmia	OMIM:601812
Mesomelia-Synostoses Syndrome	Hydronephrosis	OMIM:600383
Basal Cell Nevus Syndrome 1	Microphthalmia, Spina bifida	OMIM:109400
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, Anophthalmia	ORPHA:2250
2Q31.1 Microdeletion Syndrome	Microphthalmia	ORPHA:251014
Oculocerebrorenal Syndrome Of Lowe	Glomerulopathy, Renal insufficiency, Proteinuria, Proximal renal tubular acidosis, Nephrolithiasi...	ORPHA:534
Joubert Syndrome 21	Hyperechogenic kidneys, Renal cyst	OMIM:615636
Fanconi Anemia, Complementation Group E	Microphthalmia	OMIM:600901
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Momo Syndrome	Bilateral microphthalmos	ORPHA:2563
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Microphthalmia	ORPHA:85167
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia	ORPHA:1236
Fanconi Anemia, Complementation Group A	Microphthalmia	OMIM:227650
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia	ORPHA:364577
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Unilateral microphthalmos	OMIM:618874
Wolf-Hirschhorn Syndrome	Accessory spleen, Rieger anomaly, Hypospadias, Precocious puberty, Cryptorchidism, Biliary tract ...	OMIM:194190
Neu-Laxova Syndrome 1	Ventricular septal defect, Renal agenesis, Patent ductus arteriosus, Transposition of the great a...	OMIM:256520
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus	ORPHA:2736
Dubowitz Syndrome	Hypoplasia of the iris, Microphthalmia	OMIM:223370
Lymphedema-Distichiasis Syndrome	Microphthalmia	OMIM:153400
Incontinentia Pigmenti	Hypoplasia of the fovea, Microphthalmia	OMIM:308300
Treacher-Collins Syndrome	Encephalocele, Microphthalmia, Branchial fistula	ORPHA:861
Jacobsen Syndrome	Microphthalmia, Macular hypoplasia	OMIM:147791
Robinow Syndrome, Autosomal Dominant 1	Micropenis, Hydronephrosis, Renal duplication	OMIM:180700
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Urethrovaginal fistula, Renal hypoplasia, Renal cyst, Hydronephrosis	ORPHA:93271
Carpenter Syndrome 2	Dextrocardia, Situs inversus totalis, Patent ductus arteriosus, Transposition of the great arteri...	OMIM:614976
Mycophenolate Mofetil Embryopathy	Microphthalmia	ORPHA:268249
Fanconi Anemia, Complementation Group C	Microphthalmia	OMIM:227645
Phocomelia, Schinzel Type	Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus	ORPHA:2879
Trichothiodystrophy	Umbilical hernia, Bilateral microphthalmos	ORPHA:33364
Spondylocarpotarsal Synostosis Syndrome	Renal cyst	OMIM:272460
Linear Nevus Sebaceus Syndrome	Microphthalmia	ORPHA:2612
Acro-Renal-Ocular Syndrome	Microphthalmia, Optic disc hypoplasia	ORPHA:959
Holoprosencephaly 7	Occipital meningocele, Microphthalmia, Bilateral microphthalmos	OMIM:610828
Acrofrontofacionasal Dysostosis 1	Microphthalmia	OMIM:201180
Cornelia De Lange Syndrome	Multicystic kidney dysplasia, Hypoplasia of penis, Ventricular septal defect, Hypospadias, Renal ...	ORPHA:199
Aicardi Syndrome	Microphthalmia, Spina bifida	OMIM:304050
Chromosome 13Q14 Deletion Syndrome	Microphthalmia, Umbilical hernia	OMIM:613884
Steinfeld Syndrome	Microphthalmia	OMIM:184705
Oculodentodigital Dysplasia	Microphthalmia	OMIM:164200
Holoprosencephaly 9	Microphthalmia, Anophthalmia, Optic nerve hypoplasia	OMIM:610829
Frontofacionasal Dysplasia	Cranium bifidum occultum, Microphthalmia	OMIM:229400
Rothmund-Thomson Syndrome, Type 2	Microphthalmia	OMIM:268400
Fanconi Anemia, Complementation Group D2	Microphthalmia	OMIM:227646
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Microphthalmia, Anophthalmia	ORPHA:2526
Hallermann-Streiff Syndrome	Microphthalmia	ORPHA:2108
Kenny-Caffey Syndrome, Type 2	Microphthalmia	OMIM:127000
Bartsocas-Papas Syndrome 1	Microphthalmia	OMIM:263650
Cockayne Syndrome B	Hypoplasia of the iris, Microphthalmia	OMIM:133540
Ehlers-Danlos Syndrome, Vascular Type	Keratoconus, Cryptorchidism, Cystocele, Cervical insufficiency, Uterine rupture, Uterine prolapse...	OMIM:130050
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Hypospadias, Renal cyst	ORPHA:495875
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Microphthalmia	OMIM:617925
Phace Syndrome	Microphthalmia, Lens coloboma, Optic nerve hypoplasia	ORPHA:42775
Microphthalmia With Limb Anomalies	Microphthalmia, True anophthalmia	ORPHA:1106
Aicardi Syndrome	Microphthalmia	ORPHA:50
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Cranium bifidum occultum, Microphthalmia	ORPHA:306542
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Microphthalmia	OMIM:620186
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Microphthalmia	OMIM:620005
Proteus Syndrome	Enlarged polycystic ovaries, Long penis, Arteriovenous malformation, Renal cyst	ORPHA:744
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Unilateral renal agenesis, Atrial sept...	OMIM:308205
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Microphthalmia	OMIM:609945
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Microphthalmia	OMIM:601552
Fraser Syndrome	Encephalocele, Anophthalmia, Myelomeningocele, Umbilical hernia, Microphthalmia	ORPHA:2052
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Phthisis bulbi	OMIM:259770
Limb-Mammary Syndrome	Chronic irritative conjunctivitis, Aplasia of the uterus, Aplasia of the ovary	ORPHA:69085
Monosomy 9P	Microphthalmia	ORPHA:261112
Mend Syndrome	Microphthalmia	ORPHA:401973
Fontaine Progeroid Syndrome	Microphthalmia, Umbilical hernia	OMIM:612289
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Abnormal reproductive system morphology, Bifid uterus	ORPHA:1521
Myhre Syndrome	Microphthalmia	OMIM:139210
Pallister-Killian Syndrome	Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Renal cyst, Coarctation of aort...	OMIM:601803
Microphthalmia With Linear Skin Defects Syndrome	Microphthalmia, Anophthalmia	ORPHA:2556
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Microphthalmia, Hypoplasia of the retina	OMIM:253280
Cockayne Syndrome	Microphthalmia	ORPHA:191
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Bilateral microphthalmos, Optic nerve hypoplasia	ORPHA:468631
Adams-Oliver Syndrome 1	Encephalocele, Microphthalmia	OMIM:100300
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Microphthalmia	ORPHA:3186
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia	OMIM:603457
Degcags Syndrome	Microphthalmia	OMIM:619488
C Syndrome	Multicystic kidney dysplasia, Horseshoe kidney, Renal hypoplasia/aplasia	ORPHA:1308
Monosomy 13Q14	Microphthalmia	ORPHA:1587
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia	OMIM:608670
Yunis-Varon Syndrome	Microphthalmia, Bilateral microphthalmos	ORPHA:3472
Fraser Syndrome 1	Encephalocele, Myelomeningocele, Anophthalmia, Bilateral microphthalmos	OMIM:219000
Renpenning Syndrome 1	Microphthalmia	OMIM:309500
Witteveen-Kolk Syndrome	Microphthalmia, Branchial fistula	OMIM:613406
Vascular Ehlers-Danlos Syndrome	Keratoconus, Hypospadias, Cryptorchidism, Abnormal pupil morphology, Cystocele, Renovascular hype...	ORPHA:286
Holoprosencephaly 2	Remnants of the hyaloid vascular system, Iris coloboma	OMIM:157170
Pallister-Hall Syndrome	Microphthalmia, Umbilical hernia	ORPHA:672
Branchiooculofacial Syndrome	Renal agenesis, Hypospadias, Renal cyst	OMIM:113620
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Aplasia of the uterus	OMIM:276820
Autosomal Dominant Kenny-Caffey Syndrome	Bilateral microphthalmos	ORPHA:93325
Lowe Oculocerebrorenal Syndrome	Microphthalmia	OMIM:309000
Holoprosencephaly 1	Microphthalmia	OMIM:236100
Microphthalmia, Syndromic 6	Microphthalmia, Anophthalmia	OMIM:607932
Treacher Collins Syndrome 1	Bilateral microphthalmos	OMIM:154500
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hypoplasia of the iris, Microphthalmia	OMIM:175780
Pmm2-Cdg	Pericarditis, Proteinuria, Pericardial effusion, Intracranial hemorrhage, Nephrotic syndrome, Mul...	ORPHA:79318
Loeys-Dietz Syndrome	Uterine rupture	ORPHA:60030

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Slit2

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Slit2.

No publications found that use IMPC mice or data for Slit2.

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Slit2^{tm1(NCOM)Mfgc}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells
Slit2^{tm1a(KOMP)Mbp}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Slit2^{tm1e(KOMP)Mbp}	Targeted, non-conditional allele	ES Cells
Slit2^em1(IMPC)Mbp	Exon Deletion	Mice

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Slit2 MGI:1315205

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

MicroCT E14.5-E15.5

Gross Morphology Embryo E14.5-E15.5

Human diseases caused by Slit2 mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

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Access Data Release 20.1 Data