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Gene: Anks6 MGI:1922941

Gene Summary

Name:

ankyrin repeat and sterile alpha motif domain containing 6

Synonyms:

b2b1801.1Clo, SamCystin, LOC269533, 2210417J20Rik, Samd6

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

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	System	Allele	Zyg	Sex	Life Stage	P Value
preweaning lethality, complete penetrance		Anks6^{tm1b(KOMP)Wtsi}	HOM		Early adult	0.00

Download data as: TSV XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Adrenal gland	N/A	heterozygote	0.0% (0 of 2)
Aorta	N/A	heterozygote	100% (2 of 2)
Blood vessel	N/A	heterozygote	0.0% (0 of 2)
Bone	N/A	heterozygote	0.0% (0 of 2)
Brain	N/A	heterozygote	100% (2 of 2)
Brainstem	N/A	heterozygote	100% (2 of 2)
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Cartilage tissue	N/A	heterozygote	0.0% (0 of 2)
Cerebellum	N/A	heterozygote	100% (2 of 2)
Cerebral cortex	N/A	heterozygote	100% (2 of 2)
Eye	N/A	heterozygote	0.0% (0 of 2)
Gall bladder	N/A	heterozygote	50% (1 of 2)
Heart	N/A	heterozygote	100% (2 of 2)
Hippocampus	N/A	heterozygote	100% (2 of 2)
Hypothalamus	N/A	heterozygote	100% (2 of 2)
Kidney	N/A	heterozygote	100% (2 of 2)
Large intestine	N/A	heterozygote	100% (2 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Lower urinary tract	N/A	heterozygote	100% (2 of 2)
Lung	N/A	heterozygote	100% (2 of 2)
Lymph node	N/A	heterozygote	0.0% (0 of 2)
Mammary gland	N/A	heterozygote	0.0% (0 of 2)
Esophagus	N/A	heterozygote	0.0% (0 of 2)
Olfactory lobe	N/A	heterozygote	100% (2 of 2)
Ovary	N/A	heterozygote	50% (1 of 2)
Oviduct	N/A	heterozygote	50% (1 of 2)
Pancreas	N/A	heterozygote	100% (2 of 2)
Parathyroid gland	N/A	heterozygote	100% (2 of 2)
Peripheral nervous system	N/A	heterozygote	100% (2 of 2)
Peyer's patch	N/A	heterozygote	0.0% (0 of 2)
Pituitary gland	N/A	heterozygote	100% (2 of 2)
Prostate gland	N/A	heterozygote	0.0% (0 of 2)
Skeletal muscle tissue	N/A	heterozygote	0.0% (0 of 2)
Skin	N/A	heterozygote	0.0% (0 of 2)
Small intestine	N/A	heterozygote	50% (1 of 2)
Spinal cord	N/A	heterozygote	100% (2 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Stomach	N/A	heterozygote	100% (2 of 2)
Striatum	N/A	heterozygote	100% (2 of 2)
Testis	N/A	heterozygote	50% (1 of 2)
Thymus	N/A	heterozygote	0.0% (0 of 2)
Thyroid gland	N/A	heterozygote	0.0% (0 of 2)
Trachea	N/A	heterozygote	100% (2 of 2)
Uterus	N/A	heterozygote	50% (1 of 2)
White adipose tissue	N/A	heterozygote	0.0% (0 of 2)

No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy	Background staining in controls (WT)
adrenal gland	0.0%
aorta	0.0%
blood vessel
bone	0.0%
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
eye	0.0%
gall bladder	0.0%
heart	0.0%
hippocampus	0.0%
hypothalamus	0.0%
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
oesophagus
olfactory lobe	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
peripheral nervous system	0.0%
peyer's patch
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle tissue
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
striatum	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
trachea	0.0%
uterus	0.0%
white adipose tissue	0.0%

No Embryo expression data was found for this gene.

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 Skull Lateral Orientation

14 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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Anti-nuclear antibody assay

Images

6 Images

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X-ray

XRay Images Forepaw

14 Images

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Eye Morphology

Images Ophthalmoscopy

1 Images

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DSS Histology

Images

8 Images

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Ear epidermis immunophenotyping

Images

12 Images

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Legacy Phenotype Associated Images

Anks6^{tm1b(KOMP)Wtsi}
HET, Female, WTSI

View all 70 images

Anks6^{tm1b(KOMP)Wtsi}
hindlimb, polysyndactyly, HET, Male, WTSI

Anks6^{tm1b(KOMP)Wtsi}
abnormal snout morphology, asymmetric snout, head, HET, Female, WTSI

Anks6^{tm1b(KOMP)Wtsi}
TS20 heart, HET, Male, WTSI

Anks6^{tm1b(KOMP)Wtsi}
TS20 eye, HET, Male, WTSI

Anks6^{tm1b(KOMP)Wtsi}
TS20 liver, HET, Female, WTSI

Anks6^{tm1b(KOMP)Wtsi}
abnormal retinal pigmentation, HET, Male, WTSI

Human diseases caused by Anks6 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 Anks6 (1 diseases)
Human diseases predicted to be associated with Anks6 (1130 diseases)

The table below shows human diseases associated to Anks6 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Nephronophthisis 16		Renal insufficiency, Situs inversus totalis, Patent ductus arteriosus, Stage 5 chronic kidney dis...	OMIM:615382

The table below shows human diseases predicted to be associated to Anks6 by phenotypic similarity.

Disease	Matching phenotypes	Source
Right Atrial Isomerism	Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri...	OMIM:208530
Heterotaxy, Visceral, 8, Autosomal	Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm...	OMIM:617205
Atrioventricular Septal Defect, Susceptibility To, 2	Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran...	OMIM:606217
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Ventricular septal defect, Portal inflammation, Elevated circulating alanine aminotransferase con...	OMIM:613759
Heterotaxy, Visceral, 6, Autosomal	Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Abdominal...	OMIM:614779
Nephronophthisis 16	Renal insufficiency, Situs inversus totalis, Patent ductus arteriosus, Stage 5 chronic kidney dis...	OMIM:615382
Cardiac Septal Defects With Coarctation Of The Aorta	Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta	OMIM:212090
Cayler Cardiofacial Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	OMIM:125520
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise...	OMIM:616217
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Atrial septal defect, Neonatal death, Hepatomegaly, Portal hypertensi...	OMIM:208540
Atrial Septal Defect 2	Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept...	OMIM:607941
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Malformation of the hepatic ductal plate, Situs inversus totalis, Asplenia, Abnorma...	OMIM:615415
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal...	OMIM:306955
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Situs inversus totalis, Abdominal situs inversus, Dextrocardia	OMIM:619607
Fadd-Related Immunodeficiency	Pulmonary artery atresia, Ventricular septal defect, Hepatic fibrosis, Decreased liver function	ORPHA:306550
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Abnormality of the pancreas, Abnormal liver parenchyma morphology, ...	ORPHA:3032
Heterotaxy, Visceral, 7, Autosomal	Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl...	OMIM:616749
Meckel Syndrome, Type 7	Multicystic kidney dysplasia, Multiple glomerular cysts, Portal hypertension, Situs inversus tota...	OMIM:267010
Heterotaxy, Visceral, 12, Autosomal	Left Isomerism, Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septa...	OMIM:619702
Heterotaxy, Visceral, 5, Autosomal	Right atrial isomerism, Ventricular septal defect, Dextrocardia, Asplenia, Patent ductus arterios...	OMIM:270100
Heterotaxy, Visceral, 2, Autosomal	Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Asplenia, Left atrial isomer...	OMIM:605376
Ventricular Septal Defect 1	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect...	OMIM:614429
Congenital Heart Defects, Multiple Types, 4	Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A...	OMIM:615779
RCAD (renal cysts and diabetes)	Abnormality of the liver, Multiple renal cysts	DECIPHER:47
Hepatorenocardiac Degenerative Fibrosis	Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosp...	OMIM:619902
Tricuspid Atresia	Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s...	ORPHA:1209
Pulmonary Atresia With Ventricular Septal Defect	Pulmonary artery atresia, Ventricular septal defect	OMIM:178370
Aorta Coarctation	Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy...	ORPHA:1457
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Abnormality of the kidney, Portal fibro...	ORPHA:369
Ciliary Dyskinesia, Primary, 39	Double outlet right ventricle, Dextrocardia	OMIM:618254
Fallot Complex With Severe Mental And Growth Retardation	Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	OMIM:601127
Ventricular Septal Defect 2	Perimembranous ventricular septal defect	OMIM:614431
Retinitis Pigmentosa 89	Bicuspid aortic valve, Micronodular cirrhosis, Hepatosplenomegaly, Hepatic fibrosis, Intrahepatic...	OMIM:618955
Long Qt Syndrome 16	Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect	OMIM:618782
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Situs inversus totalis, Dextrocardia, Asplenia	OMIM:618948
Meckel Syndrome, Type 3	Hepatomegaly, Multicystic kidney dysplasia, Malformation of the hepatic ductal plate, Bile duct p...	OMIM:607361
Gallbladder Disease 1	Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic f...	OMIM:600803
Ciliary Dyskinesia, Primary, 43	Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Abdom...	OMIM:618699
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Biliary Atresia, Extrahepatic	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres...	OMIM:210500
Laterality Defects, Autosomal Dominant	Situs inversus totalis, Heterotaxy, Asplenia	OMIM:601086
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations	Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot	OMIM:601322
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a...	OMIM:613854
Hemochromatosis, Neonatal	Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Prolonged neonatal jaundice, H...	OMIM:231100
Cardiofacioneurodevelopmental Syndrome	Ventricular septal defect, Asplenia, Cryptorchidism, Abdominal situs inversus, Pulmonic stenosis,...	OMIM:619123
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c...	OMIM:619658
Congenital Pseudoarthrosis Of The Clavicle	Situs inversus totalis, Dextrocardia	ORPHA:66630
Dextrocardia	Dextrocardia, Situs inversus totalis, Abnormality of the spleen, Abnormal renal morphology, Abnor...	ORPHA:1666
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Cardiomyopathy, Hepatic fibrosis, Cirr...	OMIM:613313
Ciliary Dyskinesia, Primary, 18	Absent inner dynein arms, Situs inversus totalis, Absent outer dynein arms, Recurrent sinusitis, ...	OMIM:614874
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis	OMIM:614480
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po...	OMIM:602347
Porphyria Cutanea Tarda, Type I	Hepatic fibrosis, Porphyrinuria	OMIM:176090
Glycogen Storage Disease Iii	Elevated hepatic transaminase, Hepatomegaly, Ventricular hypertrophy, Cardiomyopathy, Hepatic fib...	OMIM:232400
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn...	ORPHA:139507
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,...	OMIM:619662
Neonatal Hemochromatosis	Congenital hepatic fibrosis, Abnormal localization of kidney, Prolonged neonatal jaundice	ORPHA:446
Colonic Atresia	Abnormal mesentery morphology, Abdominal situs inversus	ORPHA:1198
Ciliary Dyskinesia, Primary, 35	Situs inversus totalis, Recurrent pneumonia, Abdominal situs ambiguus, Bronchiectasis	OMIM:617092
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib...	OMIM:613812
Ciliary Dyskinesia, Primary, 37	Situs inversus totalis, Right aortic arch, Dextrocardia	OMIM:617577
Mitochondrial Complex I Deficiency, Nuclear Type 39	Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card...	OMIM:620135
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Atrial sept...	OMIM:601927
Total Anomalous Pulmonary Venous Return 1	Total anomalous pulmonary venous return, Dextrocardia	OMIM:106700
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Asplenia, Patent ductus arteri...	OMIM:619657
Congenital Bile Acid Synthesis Defect Type 3	Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala...	ORPHA:79302
Aneurysm Of Interventricular Septum	Vascular dilatation, Abnormal ventricular septum morphology	OMIM:105805
Meckel Syndrome, Type 6	Absent gallbladder, Bilobed right lung, Renal cyst, Horseshoe kidney, Cystic liver disease, Aplas...	OMIM:612284
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Death in infancy, Dicarboxylic aciduria, Cardiomegaly, Exercise-induced myoglobinur...	OMIM:201475
Pediatric Hepatocellular Carcinoma	Portal vein thrombosis, Hepatomegaly, Hepatic fibrosis, Hepatic necrosis	ORPHA:33402
Ciliary Dyskinesia, Primary, 40	Left Isomerism, Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted ...	OMIM:618300
Meckel Syndrome, Type 4	Atrial septal defect, Ventricular septal defect, Bile duct proliferation, Renal cyst	OMIM:611134
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Fulminant hepatic failure, Dicarboxylic aciduria, Myoglobinuria, Dilated cardiomyopathy, Hepatic ...	OMIM:231530
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In...	OMIM:613027
Adams-Oliver Syndrome 6	Ventricular septal defect, Portal hypertension, Splenomegaly, Renal hypoplasia, Hepatic fibrosis,...	OMIM:616589
Partial Atrioventricular Septal Defect	Bicuspid aortic valve, Transient ischemic attack, Coronary sinus enlargement, Partial atrioventri...	ORPHA:1330
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis	OMIM:616719
Coach Syndrome 2	Elevated hepatic transaminase, Congenital hepatic fibrosis, Portal fibrosis, Hepatic fibrosis, Hy...	OMIM:619111
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Periportal fibrosis, Abnormality of the urinary system	OMIM:213010
Ventricular Septal Defect 3	Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect	OMIM:614432
Congenital Heart Defects, Multiple Types, 5	Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ...	OMIM:617912
Conotruncal Heart Malformations	Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran...	OMIM:217095
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Overriding aorta, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Double outle...	ORPHA:3304
Familial Visceral Myopathy	Hyperparathyroidism, Hydroureter, Megacystis, Abdominal situs inversus, Vesicoureteral reflux	ORPHA:2604
Coarctation Of Aorta	Hypoplastic left heart, Coarctation of aorta	OMIM:120000
Ciliary Dyskinesia, Primary, 14	Recurrent respiratory infections, Absent inner dynein arms, Situs inversus totalis, Recurrent pne...	OMIM:613807
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ...	OMIM:616278
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Pe...	ORPHA:477817
Mitochondrial Complex I Deficiency, Nuclear Type 36	Perimembranous ventricular septal defect, Cardiomegaly	OMIM:619170
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Ventricular septal defect, Splenomegaly, Chronic kidney disease, Cholestasis, Hepat...	OMIM:615630
Scimitar Syndrome	Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Patent ductus arteriosus, Pa...	ORPHA:185
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe...	OMIM:263200
Splenoportal Vascular Anomalies	Cirrhosis, Splenomegaly, Hepatic fibrosis, Anomalous splenoportal venous system	OMIM:271500
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis	OMIM:617992
Senior-Loken Syndrome 9	Stage 5 chronic kidney disease, Cholestasis, Tubulointerstitial nephritis, Hepatic fibrosis, Neph...	OMIM:616629
Senior-Boichis Syndrome	Thickening of the tubular basement membrane, Hepatic fibrosis, Malformation of the hepatic ductal...	ORPHA:84081
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B...	OMIM:607626
Joubert Syndrome 6	Bile duct proliferation, Hepatic fibrosis, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:610688
Citrullinemia, Type Ii, Adult-Onset	Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa...	OMIM:603471
Megabladder, Congenital	Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ...	OMIM:618719
Senior-Loken Syndrome	Congenital hepatic fibrosis, Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophth...	ORPHA:3156
Autosomal Dominant Coarctation Of Aorta	Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m...	ORPHA:1455
Meckel Syndrome, Type 5	Bile duct proliferation, Renal cyst	OMIM:611561
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortical cysts, Proxi...	OMIM:231680
Sonoda Syndrome	Ventricular septal defect	OMIM:270460
Autoinflammatory-Pancytopenia Syndrome	Membranoproliferative glomerulonephritis, Proteinuria, Hepatosplenomegaly, Cholestatic liver dise...	OMIM:619858
Coach Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Unilateral renal agenesis, Vasc...	OMIM:216360
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome	Acute hepatic failure, Hepatic fibrosis, Hepatosplenomegaly	ORPHA:466794
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Dark yellow urine, Atretic gallbladder, Splenomegaly...	ORPHA:30391
Peroxisome Biogenesis Disorder 6A (Zellweger)	Neonatal death, Hepatomegaly, Decreased liver function, Renal cyst	OMIM:614870
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Patent ductus arteriosus, Overriding aorta, Ventricular septal defect, Decreased liver function	OMIM:617021
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Vesicoureteral...	OMIM:301068
Plin1-Related Familial Partial Lipodystrophy	Hepatic steatosis, Hepatic fibrosis, Polycystic ovaries	ORPHA:280356
Ciliary Dyskinesia, Primary, 7	Situs inversus totalis, Dextrocardia	OMIM:611884
Ciliary Dyskinesia, Primary, 17	Situs inversus totalis, Dextrocardia	OMIM:614679
Wolf-Hirschhorn Syndrome	Recurrent respiratory infections, Abnormal heart valve morphology, Hypospadias, Abnormality of th...	ORPHA:280
Peroxisome Biogenesis Disorder 8A (Zellweger)	Hepatomegaly, Jaundice, Ventricular septal defect, Elevated circulating aspartate aminotransferas...	OMIM:614876
Transaldolase Deficiency	Hepatomegaly, Ventricular septal defect, Splenomegaly, Micronodular cirrhosis, Patent ductus arte...	OMIM:606003
Mesoaxial Hexadactyly And Cardiac Malformation	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis	OMIM:249670
Cranioacrofacial Syndrome	Ventricular septal defect, Pulmonic stenosis	OMIM:122850
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Renal cyst, Proximal tubulopathy, Hepatic fibrosis, Cirrhosis, Death in childhood, ...	OMIM:602579
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Hepatomegaly, Death in infancy, Ventricular septal defect, Ectopic kidney, Cryptorchidism, Neonat...	OMIM:613730
Cholesteryl Ester Storage Disease	Acute hepatic failure, Hepatomegaly, Death in infancy, Elevated circulating aspartate aminotransf...	OMIM:278000
Hjv Or Hamp-Related Hemochromatosis	Elevated hepatic transaminase, Congenital hepatic fibrosis, Abnormality of endocrine pancreas phy...	ORPHA:79230
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Recurrent respiratory infections, Death in infancy, Polycystic liver disease, Pancreatic fibrosis...	OMIM:208500
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega...	ORPHA:567983
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Ventricular septal defect, Secundum atrial septal defect, Coarctation of aorta, Perimembranous ve...	OMIM:600987
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va...	ORPHA:216694
Thoraco-Abdominal Enteric Duplication	Hepatomegaly, Abnormal tricuspid valve morphology, Dextrocardia	ORPHA:1759
Eng-Strom Syndrome	Abnormal cardiac septum morphology, Ventricular septal defect	ORPHA:1937
Atrial Septal Defect 4	Atrial septal defect, Patent foramen ovale, Coarctation of aorta	OMIM:611363
Ciliary Dyskinesia, Primary, 20	Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary...	OMIM:615067
Meckel Syndrome, Type 2	Bile duct proliferation, Renal cyst	OMIM:603194
Ciliary Dyskinesia, Primary, 30	Situs inversus totalis, Ventricular septal defect, Dextrocardia	OMIM:616037
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c...	ORPHA:53035
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Cholestasis, Renal cyst, Hematuria, Renal tub...	OMIM:610205
Double Outlet Right Ventricle	Ventricular septal defect, Double outlet right ventricle, Coarctation of aorta, Heterotaxy, Hypop...	ORPHA:3426
Caroli Syndrome	Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port...	ORPHA:480520
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Dextrocardia, Isomerism, Transposition of the great arteries, Atrioventricular canal defect, Pers...	OMIM:314390
Congenital Gerbode Defect	Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Pu...	ORPHA:99095
Dubin-Johnson Syndrome	Jaundice, Biliary tract abnormality	OMIM:237500
Progressive Non-Infectious Anterior Vertebral Fusion	Abdominal situs inversus	ORPHA:2062
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Arteriovenous malformation, Overriding aorta, Abnormal aortic arch morphology	ORPHA:1110
Meacham Syndrome	Accessory spleen, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent ductus a...	OMIM:608978
Hypoplastic Left Heart Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta	OMIM:241550
Aorto-Ventricular Tunnel	Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao...	ORPHA:3400
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H...	ORPHA:731
16P13.11 Microduplication Syndrome	Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept...	ORPHA:261243
Von Willebrand Disease	Abnormal mitral valve morphology, Venous insufficiency	ORPHA:903
Cardiomyopathy, Dilated, 1S	Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio...	OMIM:613426
Isolated Polycystic Liver Disease	Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas, Multiple renal cysts, Vascul...	ORPHA:2924
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Patent ductus arteriosus, Cholestasis, Perimembranous ventricular septal defect, De...	OMIM:608104
Crigler-Najjar Syndrome Type 1	Abnormality of the liver, Biliary tract abnormality, Prolonged neonatal jaundice	ORPHA:79234
Congenital Heart Defects, Multiple Types, 2	Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul...	OMIM:614980
Ciliary Dyskinesia, Primary, 38	Situs inversus totalis, Dextrocardia	OMIM:618063
Laubry-Pezzi Syndrome	Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu...	ORPHA:99094
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, 3-Methylglutaconic aciduria, Bile duct proliferation, Macrovesicul...	OMIM:618329
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Glutaric aciduria, Lacticaciduri...	ORPHA:26791
Laurence-Moon Syndrome	Hypoplasia of penis, Renal insufficiency, Cryptorchidism, Congenital hepatic fibrosis, Displaceme...	ORPHA:2377
Venous Malformations, Multiple Cutaneous And Mucosal	Venous malformation	OMIM:600195
Adams-Oliver Syndrome 4	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:615297
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec...	ORPHA:1686
Genitopalatocardiac Syndrome	Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the...	OMIM:231060
Joubert Syndrome 9	Hepatic fibrosis, Stage 5 chronic kidney disease	OMIM:612285
Atrioventricular Septal Defect 5	Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart	OMIM:614474
Short Stature-Wormian Bones-Dextrocardia Syndrome	Patent ductus arteriosus, Dextrocardia	ORPHA:2863
Heart Defects-Limb Shortening Syndrome	Atrial septal defect, Ventricular septal defect, Abnormal tricuspid valve morphology, Abnormal mi...	ORPHA:1354
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Dextrocardia, Situs invers...	OMIM:613095
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Elevated hepatic transaminase, Giant cell hepatitis, Death in infancy, Ventricular septal defect,...	OMIM:208085
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Varicose veins, Patent ductus arteriosus, Ventricular septal defect, Peripheral arterial stenosis	OMIM:126320
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr...	OMIM:251880
Ciliary Dyskinesia, Primary, 25	Situs inversus totalis, Dextrocardia, Polysplenia	OMIM:615482
Gillessen-Kaesbach-Nishimura Syndrome	Abnormal lung lobation, Abnormal heart morphology, Periportal fibrosis, Pulmonary hypoplasia, Pol...	OMIM:263210
Polysyndactyly With Cardiac Malformation	Ventricular septal defect, Renal cyst, Stillbirth, Atrial septal defect, Hepatic cysts	OMIM:263630
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Multiple pulmonary c...	ORPHA:400
Heart Defects, Congenital, And Other Congenital Anomalies	Absent gallbladder, Double outlet left ventricle, Ventricular septal defect, Patent foramen ovale...	OMIM:600001
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon...	ORPHA:860
Spinal Muscular Atrophy, Type I	Atrial septal defect, Ventricular septal defect	OMIM:253300
Joubert Syndrome 18	Ventricular septal defect, Intrahepatic biliary atresia, Renal cyst, Horseshoe kidney	OMIM:614815
Congenital Bile Acid Synthesis Defect Type 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C...	ORPHA:79301
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Polycystic liver disease, Renal cyst	OMIM:174050
Grange Syndrome	Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis	ORPHA:79094
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole...	OMIM:618641
Lambert Syndrome	Ventricular septal defect, Hypospadias, Jaundice, Cholestasis, Intrahepatic biliary atresia	ORPHA:1296
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Atrial septal defect, Ventricular septal defect	OMIM:614249
Ciliary Dyskinesia, Primary, 2	Situs inversus totalis, Dextrocardia	OMIM:606763
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
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Dicarboxylic aciduria, Myoglobinuria, Dilat...	ORPHA:71212
Rhyns Syndrome	Hypopituitarism, Abnormality of the liver, Multicystic kidney dysplasia, Nephronophthisis	ORPHA:140976
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatocellular adenoma, Cholestasis, P...	ORPHA:264580
Bile Acid Malabsorption, Primary, 2	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:619481
Mirizzi Syndrome	Elevated hepatic transaminase, Dark urine, Pancreatitis, Jaundice, Cholesterol gallstones, Cholel...	ORPHA:521219
Nephronophthisis 11	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:613550
Developmental And Epileptic Encephalopathy 66	Atrial septal defect, Ventricular septal defect, Dextrocardia	OMIM:618067
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr...	OMIM:108900
Aicardi-Goutieres Syndrome 9	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Pericarditis, Renal insufficienc...	OMIM:619487
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Abnormal intrahepatic bile...	ORPHA:562639
Leigh Syndrome	Hepatocellular necrosis	OMIM:256000
Snijders Blok-Campeau Syndrome	Atrial septal defect, Perimembranous ventricular septal defect, Pulmonic stenosis	OMIM:618205
Mpi-Cdg	Hepatomegaly, Hepatic fibrosis, Decreased liver function, Portal hypertension	ORPHA:79319
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anterior pituitary hypoplasia, Secundum atrial septal defect, Primum atrial septal defect, Inlet ...	OMIM:619534
Lambert Syndrome	Jaundice, Intrahepatic biliary atresia, Hypospadias	OMIM:245550
Bardet-Biedl Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Nephrotic syndrome, Hypoplasia...	ORPHA:110
Atrial Septal Defect 1	Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec...	OMIM:108800
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Death in infancy, Renal insufficiency, Renal hypoplasia, Renal cyst, Cardiomyopathy...	OMIM:614922
Lethal Congenital Contracture Syndrome 10	Overriding aorta, Ventricular septal defect, Cardiomegaly	OMIM:617022
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Muscular ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Perimemb...	ORPHA:363444
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Complete atrioventricular canal defect, Coarctation of aorta, Subvalvular aortic stenosis	OMIM:217085
Right Pulmonary Artery, Anomalous Origin Of, Familial	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ...	OMIM:610338
Fetal Minoxidil Syndrome	Ventricular septal defect	ORPHA:1918
Benign Recurrent Intrahepatic Cholestasis	Elevated hepatic transaminase, Jaundice, Acholic stools, Cholestatic liver disease, Cirrhosis, He...	ORPHA:65682
Carcinoid Syndrome	Elevated hepatic transaminase, Hepatic necrosis	ORPHA:100093
Hepatoportal Sclerosis	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po...	ORPHA:64743
Sandestig-Stefanova Syndrome	Muscular ventricular septal defect, Perimembranous ventricular septal defect	OMIM:618804
8P23.1 Duplication Syndrome	Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	ORPHA:251076
Feingold Syndrome Type 2	Ventricular septal defect	ORPHA:391646
Interstitial Lung And Liver Disease	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:615486
Poland Syndrome	Dextrocardia	OMIM:173800
Hallermann-Streiff Syndrome	Cryptorchidism, Abdominal situs inversus	ORPHA:2108
Mednik Syndrome	Death in infancy, Cholestasis, Hepatic fibrosis, Cirrhosis, Death in childhood, Neonatal death	OMIM:609313
Mungan Syndrome	Perimembranous ventricular septal defect, Pulmonic stenosis	OMIM:611376
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Elevated hepatic transaminase, Duplicated collecting system, Cholestasis, Hepatosplenomegaly, Hep...	ORPHA:541423
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Hepatic fibrosis, Portal hypertension	OMIM:617341
Syndromic Diarrhea	Hepatomegaly, Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Splenomegal...	ORPHA:84064
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Decreased glom...	ORPHA:730
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Absent gallbladder, Overriding aorta, Renal hypoplasia/aplasia, Abnormal localization of kidney, ...	ORPHA:3186
Protoporphyria, Erythropoietic, X-Linked	Elevated hepatic transaminase, Cholelithiasis	OMIM:300752
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co...	OMIM:617610
Nephronophthisis 13	Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea...	OMIM:614377
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo...	OMIM:604169
Mirror Movements 3	Situs inversus totalis	OMIM:616059
Coenzyme Q10 Deficiency, Primary, 7	Patent ductus arteriosus, Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic lef...	OMIM:616276
Hyperbiliverdinemia	Cholelithiasis, Decreased liver function, Cholestasis, Green urine	OMIM:614156
Ciliary Dyskinesia, Primary, 22	Situs inversus totalis, Dextrocardia	OMIM:615444
Aortic Aneurysm, Familial Thoracic 4	Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Bi...	OMIM:132900
Familial Aortic Dissection	Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Descending aortic dis...	ORPHA:229
Congenital Disorder Of Glycosylation, Type Ia	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Death in infancy, Proteinuria, Pericar...	OMIM:212065
Cholestasis, Progressive Familial Intrahepatic, 6	Elevated hepatic transaminase, Intrahepatic cholestasis, Periportal fibrosis	OMIM:619484
Aortic Valve Disease 1	Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou...	OMIM:109730
Cardiac-Urogenital Syndrome	Accessory spleen, Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus...	OMIM:618280
Renpenning Syndrome	Heterotaxy, Hypospadias, Decreased testicular size	ORPHA:3242
Feingold Syndrome 2	Ventricular septal defect	OMIM:614326
Ketamine-Induced Biliary Dilatation	Abnormal biliary tract morphology, Dysuria	ORPHA:293807
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral artery hypoplasia, Unilateral vertebral artery hypoplasia, Dextrocardia, Situs inversus...	OMIM:613686
Congenital Heart Defects, Multiple Types, 3	Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor...	OMIM:614954
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Duplicated collecting system, Elevated circulating aspartate aminotransferase concentration, Intr...	OMIM:617093
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Dilated cardiomyopathy, Cholestasis, C...	OMIM:615895
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca...	ORPHA:99125
Bardet-Biedl Syndrome 19	Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Hypop...	OMIM:615996
Cranioectodermal Dysplasia 2	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Cholangitis, Splenomegaly, Pate...	OMIM:613610
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Abnormal aortic morphology, Ventricular septal defect, Abnormal tricuspid valve morphology	ORPHA:3405
Nemaline Myopathy 9	Ventricular septal defect	OMIM:615731
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Hypospadias, Renal hypoplasia, Renal cyst, Hepatic fibrosis, Pulmonary hypoplasia, Polycystic kid...	OMIM:614091
Peroxisome Biogenesis Disorder 1B	Hepatomegaly, Hyperoxaluria, Renal cyst, Hepatic fibrosis, Cirrhosis	OMIM:601539
D-Bifunctional Protein Deficiency	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Cholestasis, Renal cyst, Bile duct pro...	OMIM:261515
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio...	OMIM:256810
Intellectual Developmental Disorder, Autosomal Recessive 73	Patent ductus arteriosus, Ventricular septal defect	OMIM:619717
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hepatomegaly, Recurrent respiratory infections, Cardiomegaly, Microvesic...	OMIM:618278
Donohue Syndrome	Long penis, Cholestasis, Ovarian cyst, Hepatic fibrosis, Pancreatic islet-cell hyperplasia	OMIM:246200
Nephronophthisis 14	Situs inversus totalis, Polycystic kidney dysplasia, Nephronophthisis	OMIM:614844
Primary Sclerosing Cholangitis	Acute hepatic failure, Hepatic fibrosis, Neoplasm of the gallbladder, Hepatomegaly, Portal hypert...	ORPHA:171
Osteootohepatoenteric Syndrome	Proteinuria, Microvesicular hepatic steatosis, Grade II vesicoureteral reflux, Cholestasis, Porta...	OMIM:619377
Pseudotrisomy 13 Syndrome	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Coarctation of a...	OMIM:264480
Dyskeratosis Congenita, Autosomal Dominant 2	Urethral stricture, Dilated cardiomyopathy, Hepatic fibrosis, Pulmonary fibrosis	OMIM:613989
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Pulmonary hypoplasia, Polysplenia, Extrapulm...	OMIM:200995
Trichohepatoenteric Syndrome 1	Hepatomegaly, Ventricular septal defect, Hypospadias, Splenomegaly, Abnormality of the pancreas, ...	OMIM:222470
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Renal insufficiency, Hepatic cysts, Mitral valve prolapse, Polycystic kidney dysplasia, Cerebral ...	OMIM:173900
Indomethacin Embryofetopathy	Atrial septal defect, Cardiomyopathy, Ventricular septal defect	ORPHA:1909
Meckel Syndrome 14	Pneumothorax, Hepatic fibrosis, Pulmonary hypoplasia, Polycystic kidney dysplasia, Single ventricle	OMIM:619879
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Stroke, Atrial septal defect	OMIM:249270
Porphyria Cutanea Tarda	Elevated hepatic transaminase, Viral hepatitis, Hepatocellular carcinoma, Portal inflammation, St...	ORPHA:101330
Short Stature, Developmental Delay, And Congenital Heart Defects	Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect	OMIM:617044
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, Cholestasis, Renal ...	OMIM:610199
Joubert Syndrome With Hepatic Defect	Elevated hepatic transaminase, Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, P...	ORPHA:1454
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Biliary tract abnormality, Acholic sto...	ORPHA:1414
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Atrial septal defect, Ventricular septal defect	OMIM:608227
Immunodeficiency 47	Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Death in infancy, Elevated circula...	OMIM:300972
Liver Disease, Severe Congenital	Cardiomegaly, Biliary hyperplasia, Aminoaciduria, Elevated hepatic iron concentration, Atrial sep...	OMIM:619991
Primary Biliary Cholangitis	Portal hypertension, Jaundice, Hepatitis, Biliary cirrhosis, Abnormal intrahepatic bile duct morp...	ORPHA:186
Meckel Syndrome, Type 1	Accessory spleen, Hypoplasia of the bladder, Renal agenesis, Malformation of the hepatic ductal p...	OMIM:249000
Dpm1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Hepatosplenomegaly, Hepatic fibrosis, Hepatic steatosis	ORPHA:79322
Autosomal Erythropoietic Protoporphyria	Cholelithiasis, Decreased liver function, Cirrhosis	ORPHA:79278
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Patent ductus arteriosus, Abnormal cardiac septum morphology, Coarctation of aorta	OMIM:601612
Mmep Syndrome	Ventricular septal defect	ORPHA:3434
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Ventricula...	OMIM:619525
Chromosome 9P Deletion Syndrome	Atrial septal defect, Patent ductus arteriosus, Perimembranous ventricular septal defect, Ventric...	OMIM:158170
Primary Pulmonary Hypoplasia	Secundum atrial septal defect, Abnormal pulmonary artery morphology, Dextrocardia	ORPHA:2257
Peroxisome Biogenesis Disorder 3A (Zellweger)	Hepatomegaly, Polycystic kidney dysplasia, Vascular dilatation	OMIM:614859
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Atrioventricular canal defect, Dextrocardia, Coarctation of aorta	OMIM:618929
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation	Ventricular septal defect	OMIM:209770
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Fanconi Anemia, Complementation Group O	Death in infancy, Miscarriage, Cryptorchidism, Stage 5 chronic kidney disease, Renal cyst, Abnorm...	OMIM:613390
Microcephaly-Cardiomyopathy Syndrome	Dilated cardiomyopathy, Ventricular septal defect	ORPHA:2515
Transketolase Deficiency	Hepatomegaly, Increased level of ribose in urine, Ventricular septal defect, Abnormal coronary ar...	ORPHA:488618
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Aciduria, Microvesicular hepa...	OMIM:203700
Congenital Heart Defects, Multiple Types, 7	Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s...	OMIM:618780
Dubin-Johnson Syndrome	Hepatomegaly, Abnormal urinary color, Jaundice, Biliary tract abnormality, Abnormality of the liver	ORPHA:234
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Ventricular septal defect, Renal hypoplasia/aplasia, Cryptorchidism, Tetralogy of Fallot, Abnorma...	ORPHA:1166
Anemia, Congenital Dyserythropoietic, Type Ii	Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Truncus arteriosus, Ventricular septal defect	OMIM:601355
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Dark urine, Jaundice, Cholesta...	ORPHA:79303
Combined Immunodeficiency-Enteropathy Spectrum	Ventricular septal defect, Hepatitis, Hypoplasia of the thymus, Congenital pulmonary airway malfo...	ORPHA:436252
Beta-Thalassemia	Hepatomegaly, Splenomegaly, Hepatitis, Cholelithiasis, Hypertrophic cardiomyopathy	ORPHA:848
Congenital Disorder Of Glycosylation, Type Iie	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Secundum atrial sept...	OMIM:608779
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Congenital hepatic fibrosis, Multicystic kidney dysplasia, Renal cyst	ORPHA:2031
14Q11.2 Microdeletion Syndrome	Patent ductus arteriosus, Ventricular septal defect	ORPHA:261120
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Ventricular septal defect	OMIM:235750
Aortic Valve Disease 3	Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A...	OMIM:618496
Dyskeratosis Congenita, Autosomal Dominant 1	Interstitial pneumonitis, Cirrhosis, Pulmonary fibrosis, Hepatic necrosis	OMIM:127550
Bardet-Biedl Syndrome 16	Recurrent respiratory infections, Renal insufficiency, Renal agenesis, Stage 5 chronic kidney dis...	OMIM:615993
15Q11.2 Microdeletion Syndrome	Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo...	ORPHA:261183
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatocellular adenoma, Polycystic ova...	ORPHA:79240
Adams-Oliver Syndrome	Abnormal pulmonary valve morphology, Portal hypertension, Congenital hepatic fibrosis, Arterioven...	ORPHA:974
Catel-Manzke Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:1388
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Splenomegaly, Hepatomegaly, Ventricular septal defect, Coarctation of aorta	OMIM:620210
Dominant Beta-Thalassemia	Hypoparathyroidism, Hypersplenism, Splenomegaly, Jaundice, Dilated cardiomyopathy, Chronic hepati...	ORPHA:231226
Medullary Thyroid Carcinoma	Primary hyperparathyroidism, Abnormal liver parenchyma morphology, Neoplasm of the lung, Pheochro...	ORPHA:1332
Cholestasis, Benign Recurrent Intrahepatic, 2	Hepatomegaly, Jaundice, Intrahepatic cholestasis, Cholelithiasis	OMIM:605479
Primary Ciliary Dyskinesia	Abnormal atrial arrangement, Atrial situs ambiguous, Situs inversus totalis, Asplenia, Anomalous ...	ORPHA:244
Chromosome 15Q25 Deletion Syndrome	Ventricular septal defect, Dextrocardia, Coronary artery fistula, Abnormal cardiac septum morphol...	OMIM:614294
Farber Disease	Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaundice, CNS foam cells, N...	ORPHA:333
Global Developmental Delay With Or Without Impaired Intellectual Development	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:618330
Polycystic Kidney Disease 7	Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i...	OMIM:620056
Hadziselimovic Syndrome	Ventricular hypertrophy, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Pu...	OMIM:612946
Low Phospholipid-Associated Cholelithiasis	Elevated hepatic transaminase, Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirr...	ORPHA:69663
Li-Campeau Syndrome	Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale	OMIM:619189
Bardet-Biedl Syndrome 17	Situs inversus totalis, Dextrocardia	OMIM:615994
Linear Skin Defects With Multiple Congenital Anomalies 1	Atrial septal defect, Overriding aorta, Ventricular septal defect, Histiocytoid cardiomyopathy	OMIM:309801
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
Arima Syndrome	Hepatomegaly, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedu...	OMIM:243910
Rajab Interstitial Lung Disease With Brain Calcifications 1	Elevated hepatic transaminase, Recurrent urinary tract infections, Portal hypertension, Abnormal ...	OMIM:613658
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Biliary hyperplasia, Cryptorchidism, Perimembranous ventricular septal defect, Pulm...	ORPHA:83617
Distal Duplication 5Q	Aplasia/Hypoplasia of the gallbladder, Ventricular septal defect, Dextrocardia	ORPHA:96097
Criss-Cross Heart	Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten...	ORPHA:1461
Citrullinemia Type Ii	Elevated hepatic transaminase, Hepatomegaly, Enuresis, Hepatic fibrosis, Hepatocellular carcinoma...	ORPHA:247585
Congenital Disorder Of Glycosylation, Type Il	Hepatomegaly, Pericardial effusion, Hepatosplenomegaly, Abnormal cardiac septum morphology, Polyc...	OMIM:608776
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Dilatation of the cerebral artery, Polycystic kidney dysplasia, Decreased liver function, Hepatic...	OMIM:600666
Renal Tubular Dysgenesis	Tetralogy of Fallot, Proximal tubulopathy, Multiple renal cysts, Pulmonary hypoplasia, Nephropath...	ORPHA:3033
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,...	OMIM:211600
Williams Syndrome	Hypoplasia of penis, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, ...	ORPHA:904
46,Xx Sex Reversal 5	Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect	OMIM:618901
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Pancreatic fibrosis, Ventricular septal defect, Hepatic fibrosis, Pulmonary hypoplasia, Polycysti...	OMIM:263520
Gallbladder Disease 4	Cholelithiasis	OMIM:611465
Gcgr-Related Hyperglucagonemia	Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology	ORPHA:438274
Beta-Thalassemia Major	Hypoparathyroidism, Hepatomegaly, Hypersplenism, Splenomegaly, Jaundice, Dilated cardiomyopathy, ...	ORPHA:231214
Meacham Syndrome	Ventricular septal defect, Situs inversus totalis, Abnormality of the spleen, Patent ductus arter...	ORPHA:3097
Congenital Heart Defects, Multiple Types, 9	Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl...	OMIM:620294
Primary Non-Essential Cutis Verticis Gyrata	Atrial septal defect, Ventricular septal defect	ORPHA:357225
Alpha-Thalassemia	Hypersplenism, Splenomegaly, Jaundice, Cholelithiasis	ORPHA:846
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Atrial septal defect, Ventricular septal defect, Pulmonic stenosis	OMIM:614262
14Q24.1Q24.3 Microdeletion Syndrome	Ventricular septal defect, Abnormal heart morphology, Atrial septal defect, Truncus arteriosus, P...	ORPHA:401935
Xk Aprosencephaly Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:3469
Marfanoid Habitus With Situs Inversus	Situs inversus totalis, Mitral valve prolapse, Aortic root aneurysm, Pulmonic stenosis, Persisten...	OMIM:609008
Short-Rib Thoracic Dysplasia 12	Hepatomegaly, Ventricular septal defect, Splenomegaly, Atelectasis, Patent ductus arteriosus, Ren...	OMIM:269860
Alveolar Echinococcosis	Liver abscess, Pulmonary cyst, Cholangitis, Portal hypertension, Abnormal pericardium morphology,...	ORPHA:284
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
Peroxisome Biogenesis Disorder 2A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism, Jaundice, Abnormal heart morpholog...	OMIM:214110
Prune Belly Syndrome	Recurrent respiratory infections, Multicystic kidney dysplasia, Recurrent urinary tract infection...	ORPHA:2970
Mosaic Trisomy 9	Hypoplasia of penis, Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, As...	ORPHA:99776
Senior-Loken Syndrome 8	Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Hepatic cysts, Pancr...	OMIM:616307
Bardet-Biedl Syndrome 1	Abnormality of the kidney, Biliary tract abnormality, Abnormality of the ovary, Hepatic fibrosis,...	OMIM:209900
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Asplenia, Patent ductus art...	ORPHA:210122
Catel-Manzke Syndrome	Overriding aorta, Ventricular septal defect, Dextrocardia, Coarctation of aorta	OMIM:616145
Methimazole Embryofetopathy	Abnormal aortic morphology, Ventricular septal defect, Coarctation of aorta	ORPHA:1923
Axial Osteomalacia	Polycystic liver disease, Renal cyst	OMIM:109130
Truncus Arteriosus	Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort...	ORPHA:3384
Developmental And Epileptic Encephalopathy 102	Atrial septal defect, Hepatomegaly, Situs inversus totalis	OMIM:619881
Sickle Cell Disease	Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Hema...	OMIM:603903
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Abnormal mesentery morphology, Abnorma...	ORPHA:2075
Chromosome 1P36 Deletion Syndrome, Proximal	Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular canal defect, Patent ...	OMIM:619343
Fetal Trimethadione Syndrome	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ...	ORPHA:1913
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnorma...	ORPHA:3092
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated hepatic transaminase, Patent ductus arteriosus, Renal tubular dysfunction, Atrial septal...	OMIM:614886
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Atrial septal defect, Hepatomegaly, Patent ductus arteriosus, Dextrocardia	OMIM:277380
Thiamine-Responsive Megaloblastic Anemia Syndrome	Atrial septal defect, Stroke, Ventricular septal defect	ORPHA:49827
Congenital Rubella Syndrome	Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Jaundice, Atrial...	ORPHA:290
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Abnormal cardiac septum morphology, Ventricular septal defect	ORPHA:83473
Chromosome 15Q14 Deletion Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:616898
Li-Ghorbani-Weisz-Hubshman Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:618974
Bardet-Biedl Syndrome 10	Renal insufficiency, Renal cyst	OMIM:615987
Aortic Valve Disease 2	Bicuspid aortic valve, Calcification of the aorta, Aortic tortuosity, Coarctation of aorta, Ascen...	OMIM:614823
Hypoplastic Left Heart Syndrome 2	Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia	OMIM:614435
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Truncus arteriosus, Abnormal aortic morphology, Ventricular septal defect	ORPHA:2516
Johanson-Blizzard Syndrome	Abnormality of the pancreas, Abnormal cardiac septum morphology, Dextrocardia, Exocrine pancreati...	ORPHA:2315
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolap...	OMIM:612561
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24	Biliary atresia	ORPHA:565899
Subaortic Stenosis-Short Stature Syndrome	Biliary tract abnormality, Membranous subvalvular aortic stenosis, Subvalvular aortic stenosis	ORPHA:3191
Klippel-Trénaunay Syndrome	Hepatomegaly, Peripheral arteriovenous fistula, Venous insufficiency, Patent ductus arteriosus, A...	ORPHA:90308
Protoporphyria, Erythropoietic, 1	Cholelithiasis, Hepatic failure	OMIM:177000
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus	Situs inversus totalis	OMIM:620032
Lysosomal Acid Lipase Deficiency	Elevated hepatic transaminase, Fatal liver failure in infancy, Bone-marrow foam cells, Precocious...	ORPHA:275761
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Accelerated atherosclerosis, Hepatitis, Cholestasis, Acute hepatic steatosis, Aortic atherosclero...	ORPHA:209902
Pentalogy Of Cantrell	Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Hypospadias, Rena...	ORPHA:1335
Gaucher Disease Type 1	Hepatomegaly, Proteinuria, Hypersplenism, Splenomegaly, Pericardial effusion, Abnormal pulmonary ...	ORPHA:77259
Noonan Syndrome 12	Tetralogy of Fallot, Ventricular septal defect	OMIM:618624
Ciliary Dyskinesia, Primary, 36, X-Linked	Situs inversus totalis	OMIM:300991
Ciliary Dyskinesia, Primary, 3	Situs inversus totalis	OMIM:608644
Hypoplastic Left Heart Syndrome	Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial...	ORPHA:2248
Meckel Syndrome	Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, Pancreatic fibrosis, Situs ...	ORPHA:564
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Mitral valve calcification, Splenomegaly, Abnormality of the spleen, Aortic valve calcification, ...	ORPHA:2072
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Elevated hepatic transaminase, Portal hypertension, Cryptorchidism, Patent duct...	OMIM:620005
Meckel Syndrome, Type 10	Micropenis, Renal cyst, Hypospadias, Malformation of the hepatic ductal plate	OMIM:614175
Cranioectodermal Dysplasia 1	Hepatomegaly, Recurrent respiratory infections, Bicuspid aortic valve, Malformation of the hepati...	OMIM:218330
Apert Syndrome	Overriding aorta, Ventricular septal defect	OMIM:101200
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Bicuspid aortic valve, Truncus arteriosus, Ventricular septal defect, Coarctation of aorta, Perim...	ORPHA:508498
Neurooculocardiogenitourinary Syndrome	Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atrial septal defect, Patent f...	OMIM:618652
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Hepatomegaly, Recurrent respiratory infections, Ureteral duplication, Cholangitis, Pancreatic cys...	OMIM:266920
Hypotonia, Infantile, With Psychomotor Retardation	Ventricular septal defect	OMIM:616816
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome...	OMIM:618061
Cat Eye Syndrome	Ventricular septal defect, Renal agenesis, Patent ductus arteriosus, Biliary atresia, Vesicourete...	OMIM:115470
Bardet-Biedl Syndrome 8	Situs inversus totalis	OMIM:615985
Microphthalmia, Syndromic 12	Hypoplastic left atrium, Ventricular septal defect	OMIM:615524
Dyskeratosis Congenita, Autosomal Recessive 1	Hepatic fibrosis, Pulmonary fibrosis	OMIM:224230
Proximal 16P11.2 Microdeletion Syndrome	Atrial septal defect, Abnormal aortic valve morphology, Dextrocardia, Abnormal heart morphology	ORPHA:261197
3-Methylglutaconic Aciduria Type 7	Elevated hepatic transaminase, Renal insufficiency, Pneumothorax, Renal cyst, Nephrocalcinosis, C...	ORPHA:445038
Structural Heart Defects And Renal Anomalies Syndrome	Ventricular septal defect, Partial anomalous pulmonary venous return, Right aortic arch, Persiste...	OMIM:617478
Peroxisome Biogenesis Disorder 4A (Zellweger)	Hepatomegaly, Renal cyst, Death in infancy	OMIM:614862
8P Inverted Duplication/Deletion Syndrome	Aplasia/Hypoplasia of the gallbladder, Tetralogy of Fallot, Dextrocardia, Abnormal heart morphology	ORPHA:96092
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Ventricular septal defect, Pericardial effusion, Cholelithiasis, Hypertrophic cardiomyopathy, Per...	OMIM:618775
Diets-Jongmans Syndrome	Heterotaxy, Interrupted inferior vena cava with azygous continuation, Ventricular septal defect	OMIM:618846
Vacterl/Vater Association	Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, A...	ORPHA:887
Peroxisome Biogenesis Disorder 11A (Zellweger)	Elevated hepatic transaminase, Multiple renal cysts, Decreased liver function, Renal cyst	OMIM:614883
Alg9-Cdg	Hepatomegaly, Hypoplasia of the bladder, Ventricular septal defect, Ureteral hypoplasia, Pericard...	ORPHA:79328
Inflammatory Pseudotumor Of The Liver	Elevated circulating aspartate aminotransferase concentration, Abnormal liver sonography, Elevate...	ORPHA:90003
Holt-Oram Syndrome	Ventricular septal defect, Patent ductus arteriosus, Anomalous pulmonary venous return, Abnormal ...	ORPHA:392
Thomas Syndrome	Multicystic kidney dysplasia, Hypoplastic left heart, Renal hypoplasia/aplasia	ORPHA:3316
Orofaciodigital Syndrome I	Proteinuria, Pancreatic cysts, Vascular dilatation, Abnormal heart morphology, Ovarian cyst, Hepa...	OMIM:311200
Cardioacrofacial Dysplasia 1	Complete atrioventricular canal defect, Atrioventricular canal defect	OMIM:619142
Noonan Syndrome 9	Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta	OMIM:616559
Peutz-Jeghers Syndrome	Pancreatic adenocarcinoma, Biliary tract neoplasm, Enlarged polycystic ovaries, Abnormality of th...	ORPHA:2869
Argininosuccinic Aciduria	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Aminoaciduria, Hepat...	OMIM:207900
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Pigment gallstones, Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis	OMIM:613470
Fanconi Anemia, Complementation Group Q	Biliary atresia, Primum atrial septal defect	OMIM:615272
Ritscher-Schinzel Syndrome 1	Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenos...	OMIM:220210
Diaphanospondylodysostosis	Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Abnormal liver lobulation, Pulmonary hyp...	OMIM:608022
Loeys-Dietz Syndrome 6	Ventricular hypertrophy, Carotid artery dissection, Thoracic aortic aneurysm, Varicose veins, Dil...	OMIM:619656
Aceruloplasminemia	Abnormal pancreas morphology, Hepatic fibrosis, Cirrhosis, Elevated hepatic iron concentration	ORPHA:48818
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Elevated hepatic transaminase, Cholangitis, Microvesicular hepatic steatosis, Lacticaciduria, Cho...	OMIM:124000
Campomelia, Cumming Type	Pancreatic cysts, Polycystic liver disease, Polycystic kidney dysplasia, Polysplenia	OMIM:211890
Intellectual Developmental Disorder, Autosomal Recessive 79	Ventricular septal defect	OMIM:620393
Axial Mesodermal Dysplasia Spectrum	Renal hypoplasia/aplasia, Abnormality of the spleen, Abnormality of the ureter, Renal cyst, Abnor...	ORPHA:1834
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Hypoplastic tricuspid valve, Double outlet left ventricle, Ureteral duplication, Ventricular sept...	ORPHA:2255
Diabetic Embryopathy	Ventricular septal defect, Abnormality of the pancreas, Tetralogy of Fallot, Abnormal aortic morp...	ORPHA:1926
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arterios...	ORPHA:284169
16P12.1P12.3 Triplication Syndrome	Decreased response to growth hormone stimulation test, Bilateral cryptorchidism, Abnormal heart m...	ORPHA:485405
Acute Liver Failure	Elevated hepatic transaminase, Jaundice, Hepatitis, Hepatic necrosis, Hepatocellular necrosis, In...	ORPHA:90062
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	Situs inversus totalis, Primum atrial septal defect, Polysplenia, Partial atrioventricular canal ...	OMIM:619608
Pancreatic Colipase Deficiency	Cholelithiasis, Exocrine pancreatic insufficiency	ORPHA:309108
Fumarase Deficiency	Intrahepatic cholestasis, Perimembranous ventricular septal defect, Hepatic failure	OMIM:606812
Joubert Syndrome 1	Nephropathy, Hepatic fibrosis, Renal cyst	OMIM:213300
Congenital Bile Acid Synthesis Defect Type 4	Elevated hepatic transaminase, Giant cell hepatitis, Stroke-like episode, Cholestatic liver disea...	ORPHA:79095
Halperin-Birk Syndrome	Perimembranous ventricular septal defect	OMIM:618651
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Hypoplastic left heart, Ventricular septal defect	ORPHA:2476
Weill-Marchesani Syndrome	Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis	ORPHA:3449
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Ventricular septal defect	OMIM:616277
Recombinant Chromosome 8 Syndrome	Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Dou...	OMIM:179613
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Red-brown urine, Hepatic ...	ORPHA:228308
Hyperparathyroidism 2 With Jaw Tumors	Hyperparathyroidism, Pancreatic adenocarcinoma, Nephrolithiasis, Papillary renal cell carcinoma, ...	OMIM:145001
Cardiac Valvular Dysplasia 1	Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Valvular pulmonary stenos...	OMIM:212093
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Perimembranous ventricular septal defect, Ventricular septal defect	OMIM:301040
8Q12 Microduplication Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:228399
Lmna-Related Cardiocutaneous Progeria Syndrome	Ventricular hypertrophy, Mitral valve calcification, Abnormal intrahepatic bile duct morphology, ...	ORPHA:363618
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated hepatic transaminase, Hepatomegaly, Death in infancy, Ureteral duplication, Renal insuff...	OMIM:608836
Peroxisome Biogenesis Disorder 13A (Zellweger)	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotransferase concentratio...	OMIM:614887
Glycogen Storage Disease Vii	Hematuria, Cholelithiasis, Jaundice, Exercise-induced myoglobinuria	OMIM:232800
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:613870
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis,...	ORPHA:157
Beta-Thalassemia Intermedia	Hypoparathyroidism, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Jaundice, Hepatosplenom...	ORPHA:231222
Ellis Van Creveld Syndrome	Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,...	ORPHA:289
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Ventricular septal defect	ORPHA:94066
Skraban-Deardorff Syndrome	Right aortic arch, Ventricular septal defect	OMIM:617616
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Hemoglobinuria, Cholelithiasis	OMIM:194380
Pyruvate Kinase Deficiency Of Red Cells	Hepatomegaly, Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis	OMIM:266200
Renal Cysts And Diabetes Syndrome	Elevated hepatic transaminase, Multiple glomerular cysts, Hypospadias, Abnormality of the kidney,...	OMIM:137920
Phace Association	Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu...	OMIM:606519
Nephronophthisis 20	Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral...	OMIM:617271
Johanson-Blizzard Syndrome	Hepatic fibrosis, Death in childhood, Atrial septal defect, Micropenis, Hepatomegaly, Hypospadias...	OMIM:243800
Ogden Syndrome	Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomegaly, Secundum...	OMIM:300855
Bardet-Biedl Syndrome 4	Cryptorchidism, Abnormality of the kidney, Renal cyst	OMIM:615982
Complete Atrioventricular Septal Defect	Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Recurrent pneumonia, Primum a...	ORPHA:1329
Alagille Syndrome 1	Multiple small medullary renal cysts, Vesicoureteral reflux, Atrial septal defect, Renal hypoplas...	OMIM:118450
Abetalipoproteinemia	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Hepatic fibrosis, Cirrhosis, Hepatic s...	ORPHA:14
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Ventricular septal defect	OMIM:618506
Marden-Walker Syndrome	Dextrocardia	OMIM:248700
Zellweger Syndrome	Hepatomegaly, Death in infancy, Multicystic kidney dysplasia, Ventricular septal defect, Hypospad...	ORPHA:912
Delpire-Mcneill Syndrome	Ventricular septal defect	OMIM:619083
Peroxisome Biogenesis Disorder 5A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Death in infancy, Ventricular septal defect, Eleva...	OMIM:614866
Alagille Syndrome	Hepatomegaly, Ventricular septal defect, Renal hypoplasia/aplasia, Cryptorchidism, Abnormality of...	ORPHA:52
Renal Dysplasia, Cystic, Susceptibility To	Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal...	OMIM:601331
Pagod Syndrome	Death in infancy, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Situs inversus totalis,...	ORPHA:991
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Splenomegaly, Jaundice, Cholelithiasis, Cholecystitis	OMIM:235700
Turner Syndrome Due To Structural X Chromosome Anomalies	Elevated hepatic transaminase, Aortic arch aneurysm, Arterial dissection, Bicuspid aortic valve, ...	ORPHA:99413
Mosaic Monosomy X	Elevated hepatic transaminase, Aortic arch aneurysm, Arterial dissection, Bicuspid aortic valve, ...	ORPHA:99228
Monosomy X	Elevated hepatic transaminase, Aortic arch aneurysm, Arterial dissection, Bicuspid aortic valve, ...	ORPHA:99226
Turner Syndrome	Elevated hepatic transaminase, Aortic arch aneurysm, Arterial dissection, Bicuspid aortic valve, ...	ORPHA:881
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom...	ORPHA:3427
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Hepatic steatosis, Exocrine pancreatic insuf...	OMIM:616263
Ciliary Dyskinesia, Primary, 10	Situs inversus totalis	OMIM:612518
Mosaic Trisomy 1	Hepatic agenesis, Ventricular septal defect, Renal cyst, Coarctation of aorta, Renal cortical cys...	ORPHA:1692
Cardiomyopathy, Dilated, 2D	Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal defect, Dilated cardiomyopat...	OMIM:619371
Rubinstein-Taybi Syndrome 1	Accessory spleen, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Coa...	OMIM:180849
Timothy Syndrome	Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Tetralogy of Fallot, Patent fo...	OMIM:601005
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Mesenteric cyst, Ventricular septal defect, Parachute mitral valve, Patent ductus arteriosus, Atr...	OMIM:618316
Ciliary Dyskinesia, Primary, 23	Situs inversus totalis	OMIM:615451
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma morphology, Hyperecho...	ORPHA:456312
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Multicystic kidney dysplasia, Multinodular goiter	ORPHA:2091
Sialuria	Elevated hepatic transaminase, Hepatomegaly, Cholelithiasis, Hepatosplenomegaly	ORPHA:3166
Hypoglossia With Situs Inversus	Situs inversus totalis, Asplenia, Polysplenia	OMIM:612776
Cardiofaciocutaneous Syndrome 3	Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis	OMIM:615279
Multifocal Atrial Tachycardia	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ...	ORPHA:3282
22Q11.2 Duplication Syndrome	Ventricular septal defect, Hypoplastic left heart, Transposition of the great arteries, Interrupt...	ORPHA:1727
Congenital Disorder Of Deglycosylation 1	Elevated hepatic transaminase, Hepatomegaly, Recurrent respiratory infections, Dilation of Vircho...	OMIM:615273
Charge Syndrome	Decreased response to growth hormone stimulation test, Secundum atrial septal defect, Gonadotropi...	OMIM:214800
Hereditary Spherocytosis	Hepatomegaly, Restrictive cardiomyopathy, Splenomegaly, Jaundice, Cholelithiasis	ORPHA:822
Noonan Syndrome 8	Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Hyp...	OMIM:615355
Czeizel-Losonci Syndrome	Dextrocardia	ORPHA:2437
Interstitial Nephritis, Karyomegalic	Elevated hepatic transaminase, Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, H...	OMIM:614817
Ciliary Dyskinesia, Primary, 16	Situs inversus totalis	OMIM:614017
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic right heart	OMIM:618142
Ciliary Dyskinesia, Primary, 24	Situs inversus totalis	OMIM:615481
Cimdag Syndrome	Microvesicular hepatic steatosis, Cholelithiasis, Death in early adulthood, Hepatomegaly	OMIM:619273
Methylmalonic Acidemia With Homocystinuria Type Cblf	Unilateral renal agenesis, Intraventricular hemorrhage, Methylmalonic aciduria, Abnormal heart mo...	ORPHA:79284
Ciliary Dyskinesia, Primary, 13	Situs inversus totalis	OMIM:613193
Hereditary Hemorrhagic Telangiectasia	Peripheral arteriovenous fistula, Transient ischemic attack, Portal hypertension, Abnormal cerebr...	ORPHA:774
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Complete atrioventricular canal defect, Pulmonary hypoplasia, Neonatal death,...	OMIM:617925
Campomelia, Cumming Type	Hepatomegaly, Multicystic kidney dysplasia, Death in infancy, Pancreatic cysts, Abnormality of th...	ORPHA:1318
Spherocytosis, Type 1	Splenomegaly, Jaundice, Cholelithiasis	OMIM:182900
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Recurrent urinary tract infections, Cholangitis, Recurrent upper respiratory tra...	OMIM:209920
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Ventricular septal defect, Coarctation of aorta, Abnormal heart morphology, Persistent left super...	OMIM:618494
Myotonic Dystrophy 1	Cholelithiasis, Testicular atrophy	OMIM:160900
X-Linked Lissencephaly With Abnormal Genitalia	Patent ductus arteriosus, Ventricular septal defect, Exocrine pancreatic insufficiency	ORPHA:452
Trigonocephaly With Short Stature And Developmental Delay	Ventricular septal defect	OMIM:314320
Joubert Syndrome With Ocular Defect	Dextrocardia	ORPHA:220493
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney...	OMIM:602088
Thoracoabdominal Syndrome	Patent ductus arteriosus, Ectopia cordis, Transposition of the great arteries	OMIM:313850
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Ventricular septal defect, Hypoplastic left heart	ORPHA:2772
Aminopterin/Methotrexate Embryofetopathy	Situs inversus totalis, Tetralogy of Fallot, Ventricular septal defect, Pulmonary artery atresia	ORPHA:1908
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Ventricular septal defect	ORPHA:3369
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Elevated circulating aspa...	OMIM:614921
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Bicuspid aortic valve, Muscular ventricular septal defect, Patent ductus arteriosus, Coarctation ...	OMIM:612474
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Atrial septal defect, Ventricular septal defect, Vascular ring	OMIM:603387
Phaver Syndrome	Pulmonary artery atresia, Hypoplastic aortic arch, Ventricular septal defect, Coarctation of aorta	ORPHA:2876
Martinez-Frias Syndrome	Hypoplasia of the gallbladder, Hypospadias, Extrahepatic biliary duct atresia, Annular pancreas, ...	OMIM:601346
Klippel-Feil Syndrome 2, Autosomal Recessive	Ventricular septal defect	OMIM:214300
Woods Syndrome	Ventricular septal defect	OMIM:615236
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Patent ductus arteriosus, Cyst of the ductus choledochus, Atrioventricular canal defect, Coarctat...	OMIM:619480
Proteus Syndrome	Splenomegaly, Venous malformation	OMIM:176920
Diamond-Blackfan Anemia 12	Ventricular septal defect	OMIM:615550
Cirrhosis, Familial	Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Increased level of L-fu...	OMIM:215600
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Ventricular septal defect, Jau...	OMIM:613404
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect	ORPHA:75389
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Atrial septal defect, Aortic root aneurysm, Ventricular septal defect	OMIM:301039
Pontocerebellar Hypoplasia, Type 17	Secundum atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:619909
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilic liver infiltration, Hepatosplenomegaly, Nephrotic syndrome, Membranous nephropathy, ...	OMIM:618999
Infundibulopelvic Dysgenesis	Multicystic kidney dysplasia, Microscopic hematuria	OMIM:600989
Down Syndrome	Ventricular septal defect, Complete atrioventricular canal defect, Patent ductus arteriosus, Part...	OMIM:190685
Marden-Walker Syndrome	Situs inversus totalis, Ventricular septal defect, Dextrocardia, Abnormal anatomic location of th...	ORPHA:2461
Renal Hypodysplasia/Aplasia 3	Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r...	OMIM:617805
Ventriculomegaly With Cystic Kidney Disease	Ventricular septal defect, Vascular dilatation	OMIM:219730
Microphthalmia, Syndromic 9	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left atrium, Multilobulated sple...	OMIM:601186
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Abnormal mesentery morphology, Ventricular septal defect	ORPHA:2256
Distal Triplication 15Q	Abnormality of the kidney, Patent ductus arteriosus, Hypoplastic aortic arch, Dilatation of the r...	ORPHA:314588
Keutel Syndrome	Pulmonary artery stenosis, Ventricular septal defect	ORPHA:85202
Knobloch Syndrome	Patent ductus arteriosus, Dextrocardia	ORPHA:1571
Tetraamelia Syndrome 2	Ventricular septal defect, Hypoplastic pulmonary veins	OMIM:618021
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:619769
Craniofaciofrontodigital Syndrome	Prominent superficial veins, Anomalous branches of internal carotid artery, Bicuspid aortic valve...	ORPHA:363705
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morpho...	ORPHA:500159
Congenital Disorder Of Glycosylation, Type Iil	Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent duct...	OMIM:614576
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Venous insufficiency, Abnormal cerebral vascular morphology	ORPHA:745
Primary Hepatic Neuroendocrine Carcinoma	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Int...	ORPHA:100085
Trisomy 13	Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Abnormal lung lobation, Abno...	ORPHA:3378
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Ventricular septal defect, Dextrotransposition of the great arteries	OMIM:619995
Chromosome 5Q12 Deletion Syndrome	Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale	OMIM:615668
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Renal hypoplasia, Renal cyst, Ureteral agenesis, Stillbirth, Pulmonary hypoplasia, Neonatal death...	OMIM:236500
Weiss-Kruszka Syndrome	Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi...	OMIM:618619
Craniofacial Dyssynostosis With Short Stature	Patent ductus arteriosus, Ventricular septal defect	OMIM:218350
Atelis Syndrome 1	Atrial septal defect, Ventricular septal defect	OMIM:620184
Mitchell-Riley Syndrome	Absent gallbladder, Biliary atresia, Cholestasis, Acholic stools, Annular pancreas, Pancreatic hy...	OMIM:615710
Kaposiform Lymphangiomatosis	Epidural hemorrhage, Pancreatic cysts, Splenomegaly, Abnormal lung morphology, Pericardial effusi...	ORPHA:464329
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Elevated hepatic transaminase, Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency,...	ORPHA:93111
Generalized Pseudohypoaldosteronism Type 1	Cholelithiasis, Recurrent upper and lower respiratory tract infections	ORPHA:171876
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Ventricular septal defect	OMIM:602501
North American Indian Childhood Cirrhosis	Biliary cirrhosis, Portal hypertension, Prolonged neonatal jaundice	OMIM:604901
Kleefstra Syndrome	Recurrent respiratory infections, Hypoplasia of penis, Renal insufficiency, Bicuspid aortic valve...	ORPHA:261494
Inverted Duplicated Chromosome 15 Syndrome	Tetralogy of Fallot, Ventricular septal defect	ORPHA:3306
Tuberous Sclerosis Complex	Renal insufficiency, Abnormality of the kidney, Respiratory tract infection, Pituitary adenoma, C...	ORPHA:805
Glycogen Storage Disease Xii	Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransferase concentration...	OMIM:611881
Roifman Syndrome	Splenomegaly, Noncompaction cardiomyopathy, Ventricular septal defect, Hepatomegaly	OMIM:616651
Pallister-Hall Syndrome	Thyroid dysgenesis, Renal dysplasia, Hydroureter, Ventricular septal defect, Decreased response t...	OMIM:146510
Stankiewicz-Isidor Syndrome	Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect	OMIM:617516
Hanac Syndrome	Hematuria, Renal insufficiency, Multiple renal cysts	ORPHA:73229
Warsaw Breakage Syndrome	Tetralogy of Fallot, Ventricular septal defect	OMIM:613398
Verheij Syndrome	Renal agenesis, Ventricular septal defect, Renal hypoplasia, Renal cyst, Truncus arteriosus	OMIM:615583
Filippi Syndrome	Ventricular septal defect	OMIM:272440
Kapur-Toriello Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	ORPHA:2328
Neurodevelopmental Disorder With Language Delay And Seizures	Ventricular septal defect	OMIM:619908
Lambotte Syndrome	Ventricular septal defect	OMIM:245552
Lethal Congenital Contracture Syndrome 2	Dilated cardiomyopathy, Ventricular septal defect	OMIM:607598
Craniofacioskeletal Syndrome	Absent gallbladder, Ventricular septal defect, Hypospadias, Cryptorchidism, Patent ductus arterio...	OMIM:300712
Beaulieu-Boycott-Innes Syndrome	Patent ductus arteriosus, Ventricular septal defect	OMIM:613680
Neurooculorenal Syndrome	Tetralogy of Fallot with pulmonary stenosis, Patent foramen ovale, Dextrocardia, Mitral valve pro...	OMIM:620305
Kyphoscoliotic Ehlers-Danlos Syndrome	Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, Subdural hemorrhage, Antenatal intracer...	ORPHA:536545
Gallbladder Neuroendocrine Tumor	Biliary tract neoplasm, Extrahepatic cholestasis, Intermittent jaundice, Cholecystitis, Biliary t...	ORPHA:100086
Trisomy 8P	Abnormal atrioventricular connection, Cryptorchidism, Fetal pyelectasis, Recurrent upper respirat...	ORPHA:264450
Gjc2-Related Late-Onset Primary Lymphedema	Venous insufficiency, Varicose veins, Hypoplasia of lymphatic vessels, Abnormal lymphatic vessel ...	ORPHA:568051
Basel-Vanagaite-Smirin-Yosef Syndrome	Ventricular septal defect, Hypospadias, Recurrent pneumonia, Male urethral meatus stenosis, Left ...	ORPHA:464738
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Ventricular septal defect	ORPHA:93267
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatomegaly, Abnormal heart valve morphology, Hypersplenism, Splenomegaly, Cherry red spot of th...	ORPHA:77293
Aortic Arch Interruption	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,...	ORPHA:2299
Triosephosphate Isomerase Deficiency	Death in infancy, Splenomegaly, Jaundice, Death in adolescence, Cholecystitis, Prolonged neonatal...	OMIM:615512
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Situs inversus totalis	OMIM:620197
Kagami-Ogata Syndrome	Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Pulmonic stenosi...	OMIM:608149
Peroxisome Biogenesis Disorder 1A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Ventricular septal defect, Hypospadias, Cryptorchi...	OMIM:214100
Steinfeld Syndrome	Absent gallbladder, Unilateral renal dysplasia, Abnormal heart morphology	OMIM:184705
Intellectual Developmental Disorder, Autosomal Dominant 48	Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve	OMIM:617751
Microphthalmia, Syndromic 2	Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Hypoplastic aortic arch, Doubl...	OMIM:300166
Oculoauriculofrontonasal Syndrome	Ventricular septal defect	ORPHA:398156
Familial Bicuspid Aortic Valve	Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, Coarctation of aorta, Ab...	ORPHA:402075
Sickle Cell Anemia	Pigment gallstones, Abnormality of the spleen, Cholestasis	ORPHA:232
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Atrial septal defect,...	ORPHA:329224
Intellectual Developmental Disorder, Autosomal Recessive 71	Ventricular septal defect	OMIM:618504
Short Stature And Facioauriculothoracic Malformations	Ventricular septal defect	OMIM:609654
Mody	Abnormality of the kidney, Hepatocellular adenoma, Renal cyst, Glycosuria, Nephropathy, Pancreati...	ORPHA:552
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Venous insufficiency, Abnormal cerebral vascular morphology	ORPHA:743
Yuan-Harel-Lupski Syndrome	Ventricular septal defect, Double outlet right ventricle, Bicuspid aortic valve, Aortic root aneu...	OMIM:616652
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Bile duct polyp, Biliary tract abnormality, Abnormality of the ureter, ...	OMIM:175200
Desbuquois Syndrome	Ventricular septal defect	ORPHA:1425
Microgastria-Limb Reduction Defect Syndrome	Hepatomegaly, Multicystic kidney dysplasia, Crossed fused renal ectopia, Renal agenesis, Renal hy...	ORPHA:2538
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Recurrent respiratory infections, Cryptorchidism, Recurrent upper respiratory tract infections, C...	OMIM:300534
Pearson Syndrome	Hypoparathyroidism, Hepatomegaly, Elevated hepatic transaminase, Renal insufficiency, Pancreatic ...	ORPHA:699
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Retroperitoneal fibrosis, Splenomegaly, Pa...	OMIM:602782
Meckel Syndrome, Type 8	Pericardial effusion, Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys	OMIM:613885
Meier-Gorlin Syndrome 7	Urethral stricture, Ventricular septal defect, Hypospadias, Cryptorchidism, Complete atrioventric...	OMIM:617063
Jansen-De Vries Syndrome	Ventricular septal defect, Bicuspid aortic valve	OMIM:617450
Cystic Hamartoma Of Lung And Kidney	Recurrent respiratory infections, Multicystic kidney dysplasia, Pulmonary fibrosis	ORPHA:2111
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Ventricular septal defect, Absent pulmonary artery, Patent ductus arteriosus, Coarctation of aort...	OMIM:600460
Sifrim-Hitz-Weiss Syndrome	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ...	OMIM:617159
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Ventricular septal defect, Bicuspid aortic valve, Mitral valve prolapse, Coarctation of aorta, At...	ORPHA:371428
Aase-Smith Syndrome I	Ventricular septal defect	OMIM:147800
3C Syndrome	Ventricular septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology,...	ORPHA:7
Maternal Phenylketonuria	Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Hypoplastic left hear...	ORPHA:2209
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Chronic active hepatitis, Asplenia, Nephrocalcinosis, Cholelithiasis	OMIM:240300
Tyshchenko Syndrome	Atrial septal defect, Ventricular septal defect, Pulmonic stenosis	OMIM:615102
Kaposi Sarcoma	Venous insufficiency, Abnormality of the spleen, Abnormality of the liver	ORPHA:33276
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Diamond-Blackfan Anemia 5	Ventricular septal defect	OMIM:612528
Serkal Syndrome	Ventricular septal defect, Pulmonic stenosis	ORPHA:139466
Noonan Syndrome 2	Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Patent ductus arteri...	OMIM:605275
Isolated Klippel-Feil Syndrome	Ventricular septal defect	ORPHA:2345
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Ventricular septal defect, Abnormal heart morphology	ORPHA:254534
Tetrasomy 9P	Absent gallbladder, Pericarditis, Juxtaductal coarctation of the aorta, Dextrocardia, Jaundice, B...	ORPHA:3310
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Chronic kidney disease, Renal cyst, Focal segmental glomerulosclerosis, Nephropathy, Vascular dil...	OMIM:617056
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Ventricular septal defect	OMIM:601357
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Ventricular septal defect, Cryptorchidism, Renal cyst, Horseshoe kidney, Abnormal vena cava morph...	ORPHA:166035
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	ORPHA:2519
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Ventricular septal defect, Hypospadias, Cryptorchidism, Patent ductus arterio...	ORPHA:163979
Smith-Lemli-Opitz Syndrome	Abnormal lung lobation, Renal cyst, Atrial septal defect, Micropenis, Hepatic steatosis, Penoscro...	OMIM:270400
Microcephaly-Capillary Malformation Syndrome	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Right ventricular hypertrophy	OMIM:614261
Cystic Fibrosis	Hepatomegaly, Recurrent bronchopulmonary infections, Recurrent pneumonia, Cor pulmonale, Biliary ...	OMIM:219700
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Char Syndrome	Patent ductus arteriosus, Ventricular septal defect	ORPHA:46627
Metachromatic Leukodystrophy	Abnormal gallbladder morphology, Urinary incontinence, Hemobilia, Neoplasm of the gallbladder	ORPHA:512
Noonan Syndrome 10	Mitral stenosis, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Coar...	OMIM:616564
Ppoma	Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Intrah...	ORPHA:97278
Histiocytoid Cardiomyopathy	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Renal cyst, Polycystic ovaries, Stroke-lik...	ORPHA:137675
Trisomy X	Multicystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:3375
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Asplenia, Atrial septal defect, Atrioventricular c...	OMIM:265380
Angioosteohypotrophic Syndrome	Prominent superficial veins, Venous malformation	ORPHA:75508
Burn-Mckeown Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:608572
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale	OMIM:618870
Grfoma	Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Intrah...	ORPHA:97261
Diamond-Blackfan Anemia 7	Secundum atrial septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal ...	OMIM:612562
Mckusick-Kaufman Syndrome	Urethral stricture, Multicystic kidney dysplasia, Ventricular septal defect, Renal hypoplasia/apl...	ORPHA:2473
17Q12 Microdeletion Syndrome	Elevated hepatic transaminase, Multicystic kidney dysplasia, Renal insufficiency, Renal hypoplasi...	ORPHA:261265
Sarcoidosis	Abnormal lung morphology, Nephrocalcinosis, Tubulointerstitial nephritis, Emphysema, Hepatomegaly...	ORPHA:797
15Q14 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:261190
Acrocardiofacial Syndrome	Ventricular septal defect, Mitral stenosis, Coarctation of aorta, Atrial septal defect, Truncus a...	ORPHA:2008
Seckel Syndrome 9	Atrial septal defect, Pulmonary artery hypoplasia, Ventricular septal defect	OMIM:616777
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Tetralogy of Fallot, Pat...	OMIM:618748
Hereditary Elliptocytosis	Splenomegaly, Jaundice, Cholelithiasis, Prolonged neonatal jaundice	ORPHA:288
3P25.3 Microdeletion Syndrome	Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Cor...	ORPHA:435638
Teebi Hypertelorism Syndrome 1	Atrial septal defect, Aortic root aneurysm, Ventricular septal defect	OMIM:145420
Intellectual Developmental Disorder, Autosomal Dominant 47	Ventricular septal defect	OMIM:617635
Ritscher-Schinzel Syndrome 2	Atrial septal defect, Pulmonary artery hypoplasia, Patent ductus arteriosus, Ventricular septal d...	OMIM:300963
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Patent ductus arteriosus, Hypertrophic cardiomyopathy, Ventricular septal defect	OMIM:612938
Myopathy With Extrapyramidal Signs	Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Splenomegaly	OMIM:615673
Brachydactyly, Type B1	Ventricular septal defect	OMIM:113000
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Multicystic kidney dysplasia	ORPHA:3270
Heart And Brain Malformation Syndrome	Ventricular septal defect, Interrupted aortic arch	OMIM:616920
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Ureteral stenosis, Hydroureter, Patent ductus arteriosus, Hypercalciuria, Renal cyst, Nephrocalci...	OMIM:615398
Donnai-Barrow Syndrome	Ventricular septal defect	ORPHA:2143
Codas Syndrome	Extrahepatic biliary duct atresia, Ventricular septal defect	ORPHA:1458
Carpenter Syndrome 2	Dextrocardia, Situs inversus totalis, Patent ductus arteriosus, Transposition of the great arteri...	OMIM:614976
Periventricular Nodular Heterotopia 7	Ventricular septal defect	OMIM:617201
Suleiman-El-Hattab Syndrome	Atrial septal defect, Ventricular septal defect, Patent foramen ovale	OMIM:618950
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
Trisomy 1Q	Multicystic kidney dysplasia, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus...	ORPHA:261344
Neurofibroma	Enlargement of parotid gland, Neoplasm of the trachea, Abnormal biliary tract morphology, Neoplas...	ORPHA:252183
Encephalocraniocutaneous Lipomatosis	Atrial septal defect, Ventricular septal defect, Peripheral pulmonary artery stenosis, Subvalvula...	OMIM:613001
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Increased urine alpha-ketoglutarate concentration, Ventricular septal defect, Renal agenesis, Pat...	OMIM:220500
Contractural Arachnodactyly, Congenital	Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Mitral valve prolapse...	OMIM:121050
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Abnormal jugular vein morphology, Cardiomegaly, Right ventricular hypertrophy, Abno...	ORPHA:1677
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Patent ductus arteriosus, Ventricular septal defect	ORPHA:52055
Biliary Cirrhosis, Primary, 1	Biliary cirrhosis	OMIM:109720
Chromosome 6Pter-P24 Deletion Syndrome	Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Tetralogy of Fallot, P...	OMIM:612582
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypoparathyroidism, Patent ductus arteriosus, Abnormal lung lobation, Hypercalciuria, Renal cyst,...	ORPHA:369837
Lymphatic Malformation 7	Pericardial effusion, Atrial septal defect, Varicose veins	OMIM:617300
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Pulmonic stenosis, Pulmon...	OMIM:301056
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Renal insufficiency, Retinal arteriolar tortuosity, Renal cyst, Lacunar stroke, Hematuria, Dilata...	OMIM:611773
Distal Deletion 12Q	Unilateral cryptorchidism, Ectopic kidney, Pituitary adenoma, Patent ductus arteriosus, Biliary a...	ORPHA:96149
Velocardiofacial Syndrome	Ventricular septal defect, Interrupted aortic arch, Pulmonary artery atresia, Tetralogy of Fallot...	OMIM:192430
Emanuel Syndrome	Ventricular septal defect, Truncus arteriosus, Patent ductus arteriosus, Pulmonic stenosis, Atria...	OMIM:609029
Dehydrated Hereditary Stomatocytosis	Portal vein thrombosis, Cholelithiasis, Splenomegaly, Intermittent jaundice	ORPHA:3202
Restrictive Dermopathy	Dextrocardia, Patent ductus arteriosus, Ascending tubular aorta aneurysm, Transposition of the gr...	ORPHA:1662
Trisomy 17P	Hypoplasia of penis, Urethral valve, Patent ductus arteriosus, Urethral stenosis, Hypoplastic lef...	ORPHA:261290
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Left ventricular hypertrophy, Ventricular septal defect, Patent foramen ovale, Biventricular hype...	OMIM:615474
Fryns Syndrome	Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Abnormal aortic arch morphology, Abnor...	ORPHA:2059
Fryns Syndrome	Ureteral duplication, Ectopic pancreatic tissue, Ventricular septal defect, Hypospadias, Renal ag...	OMIM:229850
Congenital Tracheomalacia	Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pulmonary ve...	ORPHA:95430
Fanconi Anemia, Complementation Group B	Patent ductus arteriosus, Ventricular septal defect, Coarctation of aorta	OMIM:300514
Microsporidiosis	Cholangitis, Bronchitis, Pneumonia, Abnormality of the spleen, Abnormality of the parathyroid gla...	ORPHA:2552
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Ventricular septal defect, Thyroid lymphangiectasia, Pancreatic lymphangiectasis, S...	OMIM:235255
Braddock-Carey Syndrome 1	Aortic valve prolapse, Ventricular septal defect	OMIM:619980
8Q24.3 Microdeletion Syndrome	Ectopic posterior pituitary, Ventricular septal defect, Abnormality of the kidney, Unilateral ren...	ORPHA:508488
Digeorge Syndrome	Parathyroid hypoplasia, Hypoplasia of the thymus, Hepatic steatosis, Parathyroid agenesis, Atelec...	OMIM:188400
Trichohepatoneurodevelopmental Syndrome	Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Recurrent pancre...	OMIM:618268
Coffin-Siris Syndrome 7	Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve	OMIM:618027
King-Denborough Syndrome	Ventricular septal defect	OMIM:619542
Lymphedema-Distichiasis Syndrome	Varicose veins, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	OMIM:153400
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Patent ductus arteriosus, Ventricular septal defect	ORPHA:77298
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	ORPHA:457193
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Ventricular hypertrophy, Ventricular septal defect, Intracranial hemorrhage	ORPHA:369929
Familial Multiple Nevi Flammei	Venous insufficiency, Arteriovenous malformation, Intracranial hemorrhage	ORPHA:624
Nephrotic Syndrome, Type 11	Dilated cardiomyopathy, Ventricular septal defect	OMIM:616730
Bohring-Opitz Syndrome	Recurrent respiratory infections, Nephroblastoma, Cardiomegaly, Abnormal cardiac septum morpholog...	ORPHA:97297
Renal Hypoplasia, Bilateral	Proteinuria, Cryptorchidism, Chronic kidney disease, Renal hypoplasia, Renal cyst, Oliguria, Beta...	ORPHA:97362
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Ventricular septal defect, Patent foramen ovale, Abnormal heart morphology	ORPHA:369891
Developmental Delay With Or Without Dysmorphic Facies And Autism	Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Patent ductus arteriosus, Renal ...	OMIM:618454
Birt-Hogg-Dube Syndrome 1	Multiple pulmonary cysts, Renal neoplasm, Spontaneous pneumothorax, Renal cyst, Renal cell carcinoma	OMIM:135150
Milroy Disease	Varicose veins, Abnormal venous morphology	ORPHA:79452
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Pericardial effusion, Jau...	ORPHA:26793
Varicose Veins	Varicose veins	OMIM:192200
Joubert Syndrome 16	Renal cyst, Nephronophthisis	OMIM:614465
Trisomy 10P	Absent gallbladder, Multiple renal cysts, Abnormality of the kidney, Abnormal heart morphology	ORPHA:171929
Poland Syndrome	Atrial septal defect, Abnormality of the liver, Dextrocardia	ORPHA:2911
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Decreased response to growth hormone stimulation test, Patent ductus arteriosus, Renal cyst, Coar...	OMIM:617260
Von Hippel-Lindau Syndrome	Neoplasm of the pancreas, Pancreatic cysts, Pulmonary capillary hemangiomatosis, Renal cell carci...	OMIM:193300
Carpenter Syndrome 1	Ventricular septal defect, Patent ductus arteriosus, Transposition of the great arteries, Pulmoni...	OMIM:201000
Ogden Syndrome	Pulmonary artery stenosis, Ventricular septal defect	ORPHA:276432
Congenital Heart Defects And Skeletal Malformations Syndrome	Atrial septal defect, Aortic root aneurysm, Ventricular septal defect, Coarctation of aorta	OMIM:617602
Beckwith-Wiedemann Syndrome	Hepatomegaly, Cardiomegaly, Cryptorchidism, Pancreatic hyperplasia, Vesicoureteral reflux, Renal ...	OMIM:130650
Tatton-Brown-Rahman Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:615879
22Q11.2 Deletion Syndrome	Abnormal lung lobation, Abnormal aortic arch morphology, Hypoplasia of the thymus, Vesicoureteral...	ORPHA:567
Thakker-Donnai Syndrome	Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries	ORPHA:1780
Pontocerebellar Hypoplasia, Type 8	Ventricular septal defect, Patent foramen ovale	OMIM:614961
Alström Syndrome	Decreased response to growth hormone stimulation test, Urinary incontinence, Functional abnormali...	ORPHA:64
Focal Dermal Hypoplasia	Acute hepatic failure, Multicystic kidney dysplasia, Ventricular septal defect, Renal hypoplasia/...	ORPHA:2092
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Pulmonary artery atresia, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale	OMIM:620113
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Venous insufficiency, Arteriovenous malformation	ORPHA:137608
Femoral-Facial Syndrome	Renal hypoplasia/aplasia, Cryptorchidism, Long penis, Abnormal localization of kidney, Polycystic...	ORPHA:1988
Diaphragmatic Hernia 4, With Cardiovascular Defects	Hepatomegaly, Ventricular septal defect, Aortopulmonary collateral arteries, Aortopulmonary windo...	OMIM:620025
Porphyria, Congenital Erythropoietic	Hepatomegaly, Splenomegaly, Jaundice, Red urine, Cholelithiasis, Pink urine	OMIM:263700
Spondylo-Ocular Syndrome	Ventricular septal defect	ORPHA:85194
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Mitral valve prolapse, Aortic dissection, Arterial dissection, Abnormal venous morphology, Vascul...	ORPHA:1900
Mosaic Trisomy 16	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Abnormal heart morphol...	ORPHA:1708
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Atrial septal defect, Ascending tubular aorta aneurysm, Ventricular septal defect	OMIM:309520
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:617061
Simpson-Golabi-Behmel Syndrome	Hepatomegaly, Atrial septal defect, Death in infancy, Ventricular septal defect, Ureteral duplica...	ORPHA:373
Pyruvate Dehydrogenase E1-Alpha Deficiency	Ventricular septal defect	ORPHA:79243
Beck-Fahrner Syndrome	Ventricular septal defect, Cardiomegaly	OMIM:618798
Cooper-Jabs Syndrome	Ventricular septal defect	ORPHA:1488
Kapur-Toriello Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:244300
Distal Deletion 15Q	Multicystic kidney dysplasia, Bicuspid aortic valve, Mitral atresia, Hypospadias, Double outlet r...	ORPHA:1596
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Pulmonary artery stenosis, Ventricular septal defect	OMIM:611812
Enlarged Parietal Foramina	Abnormal cerebral vein morphology, Venous malformation	ORPHA:60015
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d...	OMIM:120330
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Ventricular septal defect	OMIM:616901
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Atrial septal defect, Ventricular septal defect	OMIM:617452
Joubert Syndrome 7	Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis	OMIM:611560
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth	Varicose veins, Venous malformation	OMIM:613089
Orotic Aciduria	Atrial septal defect, Ventricular septal defect	OMIM:258900
Recombinant 8 Syndrome	Ventricular septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal def...	ORPHA:96167
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Urethrovaginal fistula, Cryptorchidism, Congenital hepatic fibrosis, Renal h...	ORPHA:93271
Leopard Syndrome 1	Hypospadias, Unilateral renal agenesis, Cryptorchidism, Complete atrioventricular canal defect, M...	OMIM:151100
Meckel Syndrome, Type 9	Multicystic kidney dysplasia	OMIM:614209
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Cyst of the ductus choledochus, Patent ductus arteriosus, Hydronephrosis, Cardiomyopathy, Hypopla...	ORPHA:480880
Pelger-Huet Anomaly	Ventricular septal defect	OMIM:169400
1P36 Deletion Syndrome	Aortic arch aneurysm, Hypoplasia of penis, Abnormal heart valve morphology, Hypospadias, Abnormal...	ORPHA:1606
Holt-Oram Syndrome	Secundum atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic l...	OMIM:142900
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Ventricular septal defect, Pancreatic lymphangiectasis, Splenomegaly, Pulmonary lym...	ORPHA:1655
Chops Syndrome	Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Anomalous pulmonary venous ret...	OMIM:616368
Mosaic Variegated Aneuploidy Syndrome 2	Atrial septal defect, Ventricular septal defect, Coarctation of aorta, Subvalvular aortic stenosis	OMIM:614114
Emanuel Syndrome	Ventricular septal defect, Truncus arteriosus, Patent ductus arteriosus, Pulmonic stenosis, Atria...	ORPHA:96170
Rere-Related Neurodevelopmental Syndrome	Ventricular septal defect, Abnormal heart morphology	ORPHA:494344
Nabais Sa-De Vries Syndrome, Type 2	Multicystic kidney dysplasia, Hypoplastic left heart	OMIM:618829
Mosaic Variegated Aneuploidy Syndrome 1	Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Cryptorchidism, Renal cyst, Pulmonic s...	OMIM:257300
Fanconi Anemia, Complementation Group N	Ventricular septal defect	OMIM:610832
Chromosome 18Q Deletion Syndrome	Absence of the pulmonary valve, Ventricular septal defect, Patent ductus arteriosus, Ascending tu...	OMIM:601808
Pmm2-Cdg	Elevated hepatic transaminase, Pericarditis, Proteinuria, Elevated circulating growth hormone con...	ORPHA:79318
Atelosteogenesis Type I	Multiple renal cysts, Abnormal pancreatic duct morphology, Pulmonary hypoplasia	ORPHA:1190
Hydrolethalus Syndrome 1	Accessory spleen, Ventricular septal defect, Hypospadias, Complete atrioventricular canal defect,...	OMIM:236680
Odontochondrodysplasia 1	Recurrent respiratory infections, Death in infancy, Pulmonary hypoplasia, Polycystic kidney dyspl...	OMIM:184260
Lissencephaly 9 With Complex Brainstem Malformation	Ventricular septal defect	OMIM:618325
Cerebrotendinous Xanthomatosis	Cholelithiasis	OMIM:213700
Joubert Syndrome 20	Renal cyst	OMIM:614970
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Complete atrioventricular canal defect	ORPHA:476126
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Death in infancy, Multicystic kidney dysplasia, Hydroureter, Cryptorchidism, Neoplasm of the hear...	ORPHA:2241
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Cryptorchidism, Patent ductus ...	ORPHA:464311
Chromosome 17Q12 Deletion Syndrome	Elevated hepatic transaminase, Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent...	OMIM:614527
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:505237
Fanconi Anemia, Complementation Group I	Atrial septal defect, Ventricular septal defect, Patent foramen ovale	OMIM:609053
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic islet cell adenoma, Pa...	ORPHA:892
Sotos Syndrome	Ventricular septal defect, Muscular ventricular septal defect, Patent ductus arteriosus, Prolonge...	OMIM:117550
Kury-Isidor Syndrome	Ventricular septal defect	OMIM:619762
19P13.12 Microdeletion Syndrome	Atrial septal defect, Hepatic steatosis, Ventricular septal defect	ORPHA:254346
Hamamy Syndrome	Hypoparathyroidism, Cryptorchidism, Atrial septal defect, Complete atrioventricular canal defect	OMIM:611174
Hyperparathyroidism-Jaw Tumor Syndrome	Pancreatic adenocarcinoma, Renal insufficiency, Renal hamartoma, Testicular neoplasm, Primary hyp...	ORPHA:99880
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly	OMIM:616897
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Ventricular septal defect, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Renal cyst, Ves...	OMIM:616975
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Ventricular septal defect, Microvesicular hepatic steatosis, Sple...	OMIM:619418
Severe X-Linked Intellectual Disability, Gustavson Type	Ventricular septal defect	ORPHA:3078
Joubert Syndrome 14	Intracranial hemorrhage, Ventricular septal defect, Renal cyst	OMIM:614424
Penile Agenesis	Urethral atresia, male, Ventricular septal defect, Hydroureter, Cryptorchidism, Fetal pyelectasis...	ORPHA:49
Gm1 Gangliosidosis	Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Abnormal heart morphology, Hep...	ORPHA:354
Jacobsen Syndrome	Recurrent respiratory infections, Death in infancy, Multicystic kidney dysplasia, Ventricular sep...	ORPHA:2308
Smith-Lemli-Opitz Syndrome	Ureteropelvic junction obstruction, Hypoplasia of penis, Multicystic kidney dysplasia, Ventricula...	ORPHA:818
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Patent ductus arteriosus, Ventricular septal defect	OMIM:300472
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Ventricular septal defect	OMIM:617895
Dyrk1A-Related Intellectual Disability Syndrome	Ventricular septal defect, Anterior pituitary hypoplasia, Hypospadias, Unilateral renal agenesis,...	ORPHA:464306
Parathyroid Carcinoma	Pancreatic adenocarcinoma, Renal insufficiency, Renal hamartoma, Testicular neoplasm, Primary hyp...	ORPHA:143
Noonan Syndrome 4	Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis	OMIM:610733
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Death in infancy, Ventricular septal defect, Cryptorchidism, Muscular ventricular septal defect, ...	OMIM:210710
Galloway-Mowat Syndrome 7	Dilated cardiomyopathy, Ventricular septal defect	OMIM:618348
19P13.3 Microduplication Syndrome	Ventricular septal defect	ORPHA:447980
C Syndrome	Hepatomegaly, Patent ductus arteriosus, Ventricular septal defect	OMIM:211750
Dysosteosclerosis	Ventricular septal defect	ORPHA:1782
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Patent ductus arteriosus, Ventricular septal defect	OMIM:106260
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Ventricular septal defect	ORPHA:1770
Joubert Syndrome 35	Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections	OMIM:618161
Genitopatellar Syndrome	Multicystic kidney dysplasia, Cryptorchidism, Pulmonary hypoplasia, Atrial septal defect, Hydrone...	ORPHA:85201
Filippi Syndrome	Ventricular septal defect	ORPHA:3255
Parkes Weber Syndrome	Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarachnoid hemorrhage, V...	ORPHA:90307
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Ventricular septal defect, Abnormal heart morphology	ORPHA:404440
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Atrial septal defect, Coronary artery fistula, Patent ductus arteriosus, Ventricular septal defect	OMIM:620024
Noonan Syndrome 3	Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Pulmonic stenosis, Tr...	OMIM:609942
Cornelia De Lange Syndrome 1	Ventricular septal defect, Pneumonia, Hypospadias, Ectopic kidney, Proteinuria, Cryptorchidism, A...	OMIM:122470
X-Linked Intellectual Disability, Nascimento Type	Ventricular septal defect, Patent ductus arteriosus, Double outlet right ventricle, Abnormal vena...	ORPHA:163956
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Atrial septal defect...	ORPHA:457279
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Atrial septal defect, Pulmonary artery stenosis, Dilation of Virchow-Robin spaces, Ventricular se...	OMIM:300998
Insulin-Like Growth Factor I, Resistance To	Atrial septal defect, Ventricular septal defect, Patent foramen ovale	OMIM:270450
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Abnormal hea...	ORPHA:2237
Meckel Syndrome, Type 11	Polycystic kidney dysplasia	OMIM:615397
X Small Rings	Ventricular septal defect, Mitral stenosis, Bicuspid aortic valve, Aortic root aneurysm	ORPHA:96201
Limb Body Wall Complex	Ventricular septal defect, Abnormal heart morphology, Abnormality of the liver, Atrial septal def...	ORPHA:2369
Cerebrotendinous Xanthomatosis	Precocious atherosclerosis, Abnormal lung morphology, Abnormal atrial septum morphology, Prolonge...	ORPHA:909
Branchiootorenal Syndrome 1	Renal malrotation, Unilateral renal agenesis, Renal steatosis, Euthyroid goiter, Polycystic kidne...	OMIM:113650
Costello Syndrome	Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis, Mitral valve prolapse	ORPHA:3071
Lateral Meningocele Syndrome	Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve, Aortic aneurysm	OMIM:130720
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Pericardial lymphangiectasia, Ventricular septal defect, Thyroid lymphangiectasia, Pericardial ef...	OMIM:235510
Congenital Tracheal Stenosis	Ventricular septal defect, Ascending aorta hypoplasia, Patent ductus arteriosus, Hypoplastic left...	ORPHA:141127
Lathosterolosis	Elevated hepatic transaminase, Foam cells with lamellar inclusion bodies, Bilobate gallbladder, I...	OMIM:607330
Hajdu-Cheney Syndrome	Hepatomegaly, Recurrent respiratory infections, Mitral stenosis, Ventricular septal defect, Hypos...	ORPHA:955
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hepatomegaly, Cholelithiasis, Cholecystitis, Hepatosplenomegaly	OMIM:301066
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Absent gallbladder, Exocrine pancreatic insufficiency, Elevated circulating alanine aminotransfer...	OMIM:618500
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic aortic arch, Coarctation of aort...	OMIM:617506
Alzahrani-Kuwahara Syndrome	Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Persistent left su...	OMIM:619268
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Patent ductus arteriosus after premature birth, Renal hypoplasia, Renal cys...	OMIM:618460
Constricting Bands, Congenital	Ectopia cordis	OMIM:217100
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Cryptorchidism, Patent ductus arteriosus, Renal hypoplasia, Renal cyst, Stillbirth, Pulmonary hyp...	OMIM:616300
De Barsy Syndrome	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic aortic arch, Prominent veins on ...	ORPHA:2962
Simpson-Golabi-Behmel Syndrome, Type 1	Abnormal lung lobation, Renal cyst, Atrial septal defect, Hepatoblastoma, Hepatomegaly, Hypospadi...	OMIM:312870
Diaphanospondylodysostosis	Multiple renal cysts	ORPHA:66637
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi...	OMIM:600740
Diamond-Blackfan Anemia 10	Patent ductus arteriosus, Ventricular septal defect	OMIM:613309
Autosomal Recessive Robinow Syndrome	Recurrent respiratory infections, Death in infancy, Hypoplasia of penis, Ventricular septal defec...	ORPHA:1507
Schinzel-Giedion Syndrome	Streak ovary, Hypospadias, Nephroblastoma, Recurrent pneumonia, Abnormality of the ureter, Nephro...	ORPHA:798
Meckel Syndrome 13	Polycystic kidney dysplasia	OMIM:617562
Tuberous Sclerosis 1	Renal cyst, Cardiac rhabdomyoma, Renal cell carcinoma, Adenoma sebaceum, Renal angiomyolipoma, Pu...	OMIM:191100
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Ventricular septal defect	OMIM:620073
Mandibulofacial Dysostosis, Guion-Almeida Type	Atrial septal defect, Ventricular septal defect	OMIM:610536
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary...	ORPHA:79404
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Pancreatic fibrosis, Ventricular septal defect	OMIM:615503
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Atrial septal defect, Ventricular septal defect	OMIM:610978
2Q37 Microdeletion Syndrome	Multicystic kidney dysplasia, Abnormal aortic morphology, Nephroblastoma, Supernumerary nipple	ORPHA:1001
Beckwith-Wiedemann Syndrome	Hepatomegaly, Ureteral duplication, Nephroblastoma, Cardiomegaly, Cryptorchidism, Splenomegaly, A...	ORPHA:116
Zttk Syndrome	Absent gallbladder, Unilateral lung agenesis, Ventricular septal defect, Polyuria, Unilateral ren...	OMIM:617140
Mycophenolate Mofetil Embryopathy	Ventricular septal defect, Coarctation of aorta	ORPHA:268249
Adams-Oliver Syndrome 1	Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery stenosis, Hypoplastic left hea...	OMIM:100300
Feingold Syndrome 1	Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Asplenia, Patent ductus arterios...	OMIM:164280
Opitz Gbbb Syndrome	Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Persistent left s...	ORPHA:2745
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Ventricular septal defect, Dysplastic pulmonary valve	OMIM:619103
Loeys-Dietz Syndrome 5	Ventricular septal defect, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defec...	OMIM:615582
Pancreatic Agenesis-Holoprosencephaly Syndrome	Absent gallbladder, Pancreatic aplasia	ORPHA:556955
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia...	OMIM:603860
Holoprosencephaly 13, X-Linked	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Double outlet right ...	OMIM:301043
Say Syndrome	Proximal renal tubular acidosis, Cystic renal dysplasia	OMIM:181180
Weill-Marchesani Syndrome 1	Patent ductus arteriosus, Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis	OMIM:277600
Koolen-De Vries Syndrome	Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Aortic root aneurysm,...	OMIM:610443
Short Stature-Micrognathia Syndrome	Ventricular septal defect	OMIM:617164
Tuberous Sclerosis 2	Absence of renal corticomedullary differentiation, Renal cyst, Cardiac rhabdomyoma, Renal cell ca...	OMIM:613254
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Ascending tubular ao...	ORPHA:453499
Orofaciodigital Syndrome V	Tetralogy of Fallot, Ventricular septal defect	OMIM:174300
Cutis Laxa, Autosomal Dominant 1	Ventricular septal defect, Peripheral pulmonary artery stenosis	OMIM:123700
Brachytelephalangic Chondrodysplasia Punctata	Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect	ORPHA:79345
Renal Coloboma Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal...	ORPHA:1475
Trichothiodystrophy 4, Nonphotosensitive	Ventricular septal defect	OMIM:234050
Distal Deletion 19P	Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse	ORPHA:96129
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Ventricular septal defect, Renal cyst, Horseshoe kidney	OMIM:250410
Radio-Tartaglia Syndrome	Ventricular septal defect	OMIM:619312
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Patent ductus arteriosus, Ventricular septal defect, Cardiomegaly	ORPHA:96191
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Atrial septal defect, Ventricular septal defect	OMIM:617360
Basel-Vanagaite-Smirin-Yosef Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:616449
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, At...	OMIM:610759
Phelan-Mcdermid Syndrome	Ventricular septal defect, Abnormality of the kidney, Patent ductus arteriosus, Polycystic kidney...	OMIM:606232
19Q13.11 Microdeletion Syndrome	Ventricular septal defect	ORPHA:217346
Floating-Harbor Syndrome	Hypospadias, Renal agenesis, Cryptorchidism, Dilatation of the renal pelvis, Tetralogy of Fallot,...	ORPHA:2044
Coffin-Siris Syndrome 4	Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Pulmonic stenosis, Atrial se...	OMIM:614609
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Cryptorchidism, Multicystic kidney dysplasia, Fetal megacystis	ORPHA:73246
Trisomy 20P	Hypospadias, Abnormality of the kidney, Cryptorchidism, Abnormality of the ureter, Abnormal local...	ORPHA:261318
Hajdu-Cheney Syndrome	Hypospadias, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Renal cyst, Pol...	OMIM:102500
Robinow Syndrome	Multicystic kidney dysplasia, Ventricular septal defect, Cryptorchidism, Abnormal heart morpholog...	ORPHA:97360
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Ventricular septal defect, Interface hepatitis	OMIM:243150
Robinow Syndrome, Autosomal Dominant 3	Ventricular septal defect, Hypoplastic right heart, Patent ductus arteriosus, Pulmonary artery at...	OMIM:616894
Thauvin-Robinet-Faivre Syndrome	Renal malrotation, Ventricular septal defect, Renal cyst, Mitral valve prolapse, Varicose veins, ...	OMIM:617107
Kaufman Oculocerebrofacial Syndrome	Atrial septal defect, Ventricular septal defect, Coarctation of aorta	OMIM:244450
Floating-Harbor Syndrome	Atrial septal defect, Mesocardia, Persistent left superior vena cava, Coarctation of aorta	OMIM:136140
Distal 22Q11.2 Microdeletion Syndrome	Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Aortic aneurysm	ORPHA:261330
Harrod Syndrome	Cryptorchidism, Multicystic kidney dysplasia, Hypospadias	ORPHA:2115
Loeys-Dietz Syndrome 3	Ventricular hypertrophy, Tortuous cerebral arteries, Bicuspid aortic valve, Thoracic aortic aneur...	OMIM:613795
Chromosome 1Q41-Q42 Deletion Syndrome	Ventricular septal defect	OMIM:612530
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Hepatomegaly, Ventricular septal defect, Elevated circulating aspartate aminotransferase concentr...	OMIM:280000
Bohring-Opitz Syndrome	Atrial septal defect, Ventricular septal defect, Hyperechogenic pancreas	OMIM:605039
Orofaciodigital Syndrome Type 1	Elevated hepatic transaminase, Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Pa...	ORPHA:2750
Duane-Radial Ray Syndrome	Atrial septal defect, Ventricular septal defect, Vascular dilatation	OMIM:607323
2P15P16.1 Microdeletion Syndrome	Decreased testicular size, Recurrent respiratory infections, Multicystic kidney dysplasia, Supern...	ORPHA:261349
16P13.11 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:261236
Familial Adenomatous Polyposis	Cholangiocarcinoma, Pancreatic adenocarcinoma, Goiter, Pituitary adenoma, Neoplasm of the gallbla...	ORPHA:733
Lymphangioleiomyomatosis	Recurrent respiratory infections, Abnormal urinary color, Renal neoplasm, Atelectasis, Renal angi...	ORPHA:538
Mgat2-Cdg	Patent ductus arteriosus, Ventricular septal defect, Abnormal heart morphology	ORPHA:79329
Hand-Foot-Genital Syndrome	Ventricular septal defect	ORPHA:2438
Frank-Ter Haar Syndrome	Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, Atrial septal de...	OMIM:249420
Chromosome 14Q11-Q22 Deletion Syndrome	Patent ductus arteriosus, Ventricular septal defect, Patent foramen ovale	OMIM:613457
Tetraamelia-Multiple Malformations Syndrome	Aplasia/Hypoplasia of the lungs, Cryptorchidism, Multicystic kidney dysplasia, Abnormal lung loba...	ORPHA:3301
Coffin-Siris Syndrome	Ventricular septal defect, Hepatoblastoma, Patent ductus arteriosus, Abnormal heart morphology, A...	ORPHA:1465
Van Esch-O'Driscoll Syndrome	Atrial septal defect, Pulmonary artery stenosis, Pulmonary valve atresia, Ventricular septal defect	OMIM:301030
Cerebellar-Facial-Dental Syndrome	Ascending tubular aorta aneurysm, Ventricular septal defect, Mitral valve prolapse	ORPHA:444072
Holoprosencephaly 14	Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia	OMIM:619895
3Q29 Microduplication Syndrome	Ventricular septal defect	ORPHA:251038
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Accessory spleen, Ventricular septal defect	OMIM:619306
Donnai-Barrow Syndrome	Ventricular septal defect	OMIM:222448
16Q24.3 Microdeletion Syndrome	Dilated cardiomyopathy, Ventricular septal defect	ORPHA:261250
Mosaic Variegated Aneuploidy Syndrome	Multicystic kidney dysplasia, Abnormal lung lobation, Coarctation of aorta, Abnormal aortic morph...	ORPHA:1052
Bardet-Biedl Syndrome 6	Hypospadias, Renal cyst	OMIM:605231
Weill-Marchesani Syndrome 2	Ventricular septal defect, Patent ductus arteriosus, Ascending aortic dissection, Pulmonic stenos...	OMIM:608328
Brain-Lung-Thyroid Syndrome	Atrial septal defect, Ventricular septal defect, Abnormal cardiac septum morphology, Patent foram...	ORPHA:209905
Bor Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu...	ORPHA:107
Roberts-Sc Phocomelia Syndrome	Accessory spleen, Ventricular septal defect, Hypospadias, Cryptorchidism, Patent ductus arteriosu...	OMIM:268300
Joubert Syndrome 21	Splenomegaly, Hyperechogenic kidneys, Pulmonary hypoplasia, Renal cyst	OMIM:615636
Eisenmenger Syndrome	Hepatomegaly, Ventricular septal defect, Patent ductus arteriosus, Aortopulmonary window, Abnorma...	ORPHA:97214
Clapo Syndrome	Varicose veins, Venous malformation	ORPHA:168984
Livedoid Vasculopathy	Venous insufficiency, Varicose veins, Abnormal capillary morphology, Ischemic stroke	ORPHA:542643
Chime Syndrome	Pulmonary valve atresia, Tetralogy of Fallot, Ventricular septal defect, Transposition of the gre...	ORPHA:3474
Cerebellofaciodental Syndrome	Ventricular septal defect, Mitral valve prolapse	OMIM:616202
Lateral Meningocele Syndrome	Ventricular septal defect	ORPHA:2789
Combined Oxidative Phosphorylation Deficiency 15	Ventricular septal defect, Ventricular septal hypertrophy	OMIM:614947
3Mc Syndrome 1	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:257920
Glomuvenous Malformation	Gastrointestinal arteriovenous malformation, Arteriovenous malformation, Venous malformation	ORPHA:83454
Intellectual Developmental Disorder, Autosomal Dominant 53	Ventricular septal defect	OMIM:617798
Renal Agenesis	Ventricular septal defect	ORPHA:411709
Foix-Alajouanine Syndrome	Arteriovenous fistula, Venous malformation	ORPHA:79093
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder, Unilateral lung agenesis, Transient ischemic attack, Unilateral renal agenesi...	ORPHA:500150
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Varicose veins, Abnormal right ventricle morphology, Ventricular septal defect, Mitral valve prol...	ORPHA:500095
Distal Renal Tubular Acidosis	Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,...	ORPHA:18
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du...	OMIM:300967
Thrombocytopenia-Absent Radius Syndrome	Ventricular septal defect, Pancreatic cysts, Patent ductus arteriosus, Coarctation of aorta, Hepa...	OMIM:274000
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Ventricular septal defect, Peripheral pulmonary artery stenosis	OMIM:619575
Larsen Syndrome	Atrial septal defect, Ventricular septal defect, Aortic aneurysm	OMIM:150250
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Ventricular septal defect	OMIM:178110
7Q11.23 Microduplication Syndrome	Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Aortic valve stenosis,...	ORPHA:96121
Congenital Disorder Of Glycosylation, Type Iia	Ventricular septal defect	OMIM:212066
Ring Chromosome 13 Syndrome	Hypoplasia of the gallbladder, Hypospadias, Abnormal renal physiology, Micropenis, Urogenital sin...	ORPHA:96176
Proteus-Like Syndrome	Venous insufficiency, Splenomegaly	ORPHA:2969
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Splenomegaly, Venous malformation	OMIM:612918
Familial Adenomatous Polyposis 4	Ovarian cyst, Renal cyst	OMIM:617100
Specc1L-Related Hypertelorism Syndrome	Atrial septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	ORPHA:1519
Cerebrocostomandibular Syndrome	Ventricular septal defect, Ectopic kidney, Patent ductus arteriosus, Renal cyst, Horseshoe kidney...	OMIM:117650
Codas Syndrome	Atrial septal defect, Atrioventricular canal defect, Ventricular septal defect	OMIM:600373
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Ventricular septal defect	ORPHA:251028
Diamond-Blackfan Anemia	Radial artery aplasia, Ventricular septal defect, Coarctation of aorta, Abnormal heart morphology...	ORPHA:124
Renpenning Syndrome 1	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Situs inversus totalis	OMIM:309500
Cohen Syndrome	Ventricular septal defect, Mitral valve prolapse	ORPHA:193
Joubert Syndrome 2	Renal insufficiency, Renal cyst, Nephronophthisis	OMIM:608091
Holoprosencephaly	Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormality of the spleen, Abnorm...	ORPHA:2162
Oculocerebrorenal Syndrome Of Lowe	Recurrent respiratory infections, Hyperparathyroidism, Death in infancy, Glomerulopathy, Renal in...	ORPHA:534
Den Hoed-De Boer-Voisin Syndrome	Ventricular septal defect	OMIM:619229
Radio-Renal Syndrome	Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Chylothorax, Pleural effu...	ORPHA:3015
Leigh Syndrome	Hypertrophic cardiomyopathy, Hepatic failure, Ventricular septal defect	ORPHA:506
Esophageal Atresia	Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta	ORPHA:1199
Myhre Syndrome	Ventricular septal defect, Pericardial effusion, Patent ductus arteriosus, Coarctation of aorta, ...	OMIM:139210
Peters Plus Syndrome	Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Crypto...	ORPHA:709
Hemihyperplasia-Multiple Lipomatosis Syndrome	Abnormal venous morphology, Abnormal cerebral vascular morphology	ORPHA:276280
Cardiospondylocarpofacial Syndrome	Ventricular septal defect, Muscular ventricular septal defect, Dysplastic tricuspid valve, Hypopl...	OMIM:157800
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Atrial septal defect, Atrioventricular canal defect, Patent ductus arteriosus, Ventricular septal...	ORPHA:3047
Jacobsen Syndrome	Atrial septal defect, Annular pancreas, Ventricular septal defect	OMIM:147791
Omodysplasia 1	Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect	OMIM:258315
Opitz Gbbb Syndrome	Ventricular septal defect	OMIM:300000
Teebi-Shaltout Syndrome	Aortic valve stenosis, Ventricular septal defect	OMIM:272950
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Atrial septal defect, Micropenis, Pulmonary hypoplasia, Polycystic kidney dysplasia	OMIM:616546
Branchio-Oculo-Facial Syndrome	Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis	ORPHA:1297
Joubert Syndrome 39	Hypoplastic left heart, Polycystic kidney dysplasia	OMIM:619562
Steinert Myotonic Dystrophy	Elevated hepatic transaminase, Decreased response to growth hormone stimulation test, Dilated car...	ORPHA:273
Townes-Brocks Syndrome	Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormal pulmonary valve morphology, Abnor...	ORPHA:857
Msh3-Related Attenuated Familial Adenomatous Polyposis	Ovarian dermoid cyst, Renal cyst	ORPHA:480536
Viss Syndrome	Tortuous cerebral arteries, Epidural hemorrhage, Right ventricular dilatation, Atrial septal defe...	OMIM:619472
Femoral-Facial Syndrome	Ventricular septal defect, Renal agenesis, Abnormal renal collecting system morphology, Cryptorch...	OMIM:134780
2Q31.1 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:251014
Microphthalmia, Syndromic 3	Patent ductus arteriosus, Ventricular septal defect	OMIM:206900
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Atrial septal defect...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Atrial septal defect...	ORPHA:352665
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis	OMIM:607721
Rabson-Mendenhall Syndrome	Atrial septal defect, Cardiomyopathy, Ventricular septal defect	ORPHA:769
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Ventricular septal defect	OMIM:614653
Keutel Syndrome	Peripheral pulmonary artery stenosis, Pulmonary artery hypoplasia, Ventricular septal defect, Pul...	OMIM:245150
Peters-Plus Syndrome	Ureteral duplication, Ventricular septal defect, Bilobate gallbladder, Hypospadias, Cryptorchidis...	OMIM:261540
Cerebrocostomandibular Syndrome	Death in infancy, Multicystic kidney dysplasia, Ventricular septal defect	ORPHA:1393
Diamond-Blackfan Anemia 1	Atrial septal defect, Ventricular septal defect, Tricuspid stenosis, Coarctation of aorta	OMIM:105650
Menkes Disease	Venous insufficiency, Arterial stenosis, Intracranial hemorrhage, Abnormal carotid artery morphol...	ORPHA:565
Goldberg-Shprintzen Syndrome	Ventricular septal defect	OMIM:609460
Osteopathia Striata With Cranial Sclerosis	Atrial septal defect, Multicystic kidney dysplasia, Patent ductus arteriosus, Ventricular septal ...	OMIM:300373
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morpho...	ORPHA:353281
Ulnar-Mammary Syndrome	Ventricular septal defect	ORPHA:3138
Epidermal Nevus Syndrome	Polycystic kidney dysplasia, Aortic aneurysm	ORPHA:35125
Tbck-Related Intellectual Disability Syndrome	Ventricular septal defect, Pulmonic stenosis	ORPHA:488632
Mosaic Trisomy 20	Abnormal mitral valve morphology, Dysplastic tricuspid valve, Ventricular septal defect	ORPHA:1724
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Patent ductus arteriosus, Ventricular septal defect, Cerebral hemorrhage	OMIM:616682
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Ventricular septal defect, Patent ductus arteriosus, Abnormal left ventricle morphology, Ebstein ...	ORPHA:466791
Wolf-Hirschhorn Syndrome	Accessory spleen, Ventricular septal defect, Hypospadias, Cryptorchidism, Biliary tract abnormali...	OMIM:194190
Acrorenal-Mandibular Syndrome	Absent nipple, Renal agenesis, Abnormality of the ureter, Aplasia of the bladder, Pulmonary hypop...	OMIM:200980
Trisomy 18	Atrial septal defect, Ventricular septal defect	ORPHA:3380
Koolen-De Vries Syndrome Due To A Point Mutation	Bicuspid aortic valve, Ventricular septal defect, Intraventricular hemorrhage, Abnormal heart mor...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Bicuspid aortic valve, Ventricular septal defect, Intraventricular hemorrhage, Abnormal heart mor...	ORPHA:363958
Degcags Syndrome	Hepatomegaly, Ventricular septal defect, Patent ductus arteriosus, Cholestasis, Hepatosplenomegal...	OMIM:619488
Noonan Syndrome 1	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Pulmonic stenosis, Atr...	OMIM:163950
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ...	ORPHA:2973
Marshall-Smith Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Dysplastic aortic valve	OMIM:602535
Chromosome 16P13.3 Duplication Syndrome	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect	OMIM:613458
Fanconi Anemia, Complementation Group C	Ventricular septal defect	OMIM:227645
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Aortic root aneur...	ORPHA:444077
Acrofacial Dysostosis 1, Nager Type	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	OMIM:154400
Oculodentodigital Dysplasia	Ventricular septal defect	ORPHA:2710
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Death in infancy, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Unilateral renal age...	OMIM:308205
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Atrial septal defect, Pulmonary artery stenosis, Dilatation of the ventricular cavity, Ventricula...	ORPHA:459070
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Atrial septal defect, Partial anomalous pulmonary venous return, Ventricular septal defect	OMIM:301044
Proteus Syndrome	Thymus hyperplasia, Testicular neoplasm, Enlarged polycystic ovaries, Splenomegaly, Long penis, A...	ORPHA:744
Trichothiodystrophy	Cardiomyopathy, Ventricular septal defect	ORPHA:33364
Distal 22Q11.2 Microduplication Syndrome	Patent ductus arteriosus, Ventricular septal defect, Tricuspid valve prolapse	ORPHA:261337
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hepatic steatosis, Ventricular septal defect, Mitral atresia, Portal hypertension, Ascending aort...	OMIM:619503
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Hyperechogenic kidneys, Polycystic kidney dysplasia	OMIM:617866
Mckusick-Kaufman Syndrome	Hydroureter, Cryptorchidism, Pulmonary hypoplasia, Polycystic kidney dysplasia, Vesicovaginal fis...	OMIM:236700
Cutis Marmorata Telangiectatica Congenita	Multicystic kidney dysplasia, Patent ductus arteriosus, Arterial stenosis, Arteriovenous malforma...	ORPHA:1556
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bicuspid aortic valve, Urinary incontinence, Asplenia, Vesicoureteral reflux, Webbed penis, Micro...	ORPHA:261537
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Renal cyst	OMIM:615560
Immunodeficiency 96	Recurrent lower respiratory tract infections, Multicystic kidney dysplasia	OMIM:619774
Vater/Vacterl Association	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect, Transposition of the gr...	OMIM:192350
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Bicuspid aortic valve, Ventricular septal defect, Anomalous origin of left subclavian artery, Pat...	ORPHA:438213
Costello Syndrome	Ventricular septal defect, Mitral valve prolapse, Pulmonic stenosis, Atrial septal defect, Hypert...	OMIM:218040
Mowat-Wilson Syndrome	Bicuspid aortic valve, Urinary incontinence, Asplenia, Vesicoureteral reflux, Webbed penis, Micro...	ORPHA:2152
Okamoto Syndrome	Ventricular septal defect, Splenomegaly, Abnormal left ventricle morphology, Primum atrial septal...	ORPHA:2729
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bicuspid aortic valve, Urinary incontinence, Asplenia, Vesicoureteral reflux, Webbed penis, Micro...	ORPHA:261552
Neuromuscular Oculoauditory Syndrome	Reduced renal corticomedullary differentiation, Multiple renal cysts	OMIM:618733
Townes-Brocks Syndrome 1	Multicystic kidney dysplasia, Renal insufficiency, Ventricular septal defect, Hypospadias, Urethr...	OMIM:107480
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Right aortic arch, Ventricular septal defect	ORPHA:513456
Arboleda-Tham Syndrome	Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Pulmonic sten...	OMIM:616268
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morpho...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morpho...	ORPHA:353277
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia	OMIM:613091
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hepatomegaly, Ventricular septal defect, Hepatoblastoma, Pulmonary artery stenosis, Abnormal aort...	ORPHA:96334
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Ventricular septal defect	ORPHA:1071
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Renal angiomyolipoma, Polycystic kidney dysplasia	OMIM:600273
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Elevated hepatic transaminase, Ventricular septal defect, Bicuspid aortic valve, Jaundice, Dilata...	OMIM:619475
Chromosome 13Q14 Deletion Syndrome	Ventricular septal defect, Patent foramen ovale	OMIM:613884
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse, Pulmonic stenosis, A...	ORPHA:363700
Mowat-Wilson Syndrome	Ventricular septal defect, Pulmonary artery sling, Patent ductus arteriosus, Pulmonary artery ste...	OMIM:235730
Neu-Laxova Syndrome 1	Patent ductus arteriosus, Ventricular septal defect, Patent foramen ovale, Transposition of the g...	OMIM:256520
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve	OMIM:271640
Chromosome 1P36 Deletion Syndrome, Distal	Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Patent ductus art...	OMIM:607872
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Ventricular septal defect, Ventricular septal hypertrophy	OMIM:608670
Yunis-Varon Syndrome	Ventricular septal defect, Cardiomegaly, Cardiomyopathy, Renal artery stenosis, Atrial septal def...	ORPHA:3472
Occipital Horn Syndrome	Venous insufficiency, Jaundice, Hepatitis, Cholestasis, Vascular dilatation	ORPHA:198
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Ventricular hypertrophy, Ventricular septal defect, Mitral stenosis, Tricuspid stenosis, Pulmonic...	OMIM:143095
Williams-Beuren Syndrome	Bicuspid aortic valve, Ventricular septal defect, Portal hypertension, Retinal arteriolar tortuos...	OMIM:194050
Cornelia De Lange Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Ventricular septal defect, Hypospadias, Renal ...	ORPHA:199
Genitopatellar Syndrome	Multicystic kidney dysplasia, Ventricular septal defect, Cryptorchidism, Pulmonary hypoplasia, At...	OMIM:606170
Bardet-Biedl Syndrome 12	Hydronephrosis, Hydroureter, Cystic renal dysplasia	OMIM:615989
Fraser Syndrome	Death in infancy, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Cryptorchidism,...	ORPHA:2052
Orofaciodigital Syndrome Type 14	Patent ductus arteriosus, Ventricular septal defect	ORPHA:434179
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Aortic valve stenosis, Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal h...	ORPHA:268261
Orofaciodigital Syndrome Xiv	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:615948
Craniotubular Dysplasia, Ikegawa Type	Ventricular septal defect	OMIM:619727
15q26 overgrowth syndrome	Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys...	DECIPHER:81
Kabuki Syndrome 1	Atrial septal defect, Ventricular septal defect, Coarctation of aorta	OMIM:147920
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Cryptorchidism, Hypospadias, Renal cyst	ORPHA:495875
Early Infantile Epileptic Encephalopathy	Ventricular septal defect	ORPHA:1934
Pallister-Killian Syndrome	Ventricular septal defect, Hypospadias, Supernumerary nipple, Cryptorchidism, Patent ductus arter...	OMIM:601803
Familial Cerebral Cavernous Malformation	Venous malformation, Cerebral hemorrhage	ORPHA:221061
Proboscis Lateralis	Patent ductus arteriosus, Ventricular septal defect	ORPHA:141099
C Syndrome	Death in infancy, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cryptorchidism, Horsesh...	ORPHA:1308
Osteoporosis-Pseudoglioma Syndrome	Ventricular septal defect	OMIM:259770
Roberts Syndrome	Cryptorchidism, Long penis, Polycystic kidney dysplasia	ORPHA:3103
Craniofacial Microsomia 1	Multicystic kidney dysplasia, Ventricular septal defect, Renal agenesis, Ectopic kidney, Patent d...	OMIM:164210
Spondylocarpotarsal Synostosis Syndrome	Renal cyst	OMIM:272460
Coffin-Siris Syndrome 1	Atrial septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	OMIM:135900
Pallister-Hall Syndrome	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ...	ORPHA:672
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:619522
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Hydronephrosis, Micropenis, Multicystic kidney dysplasia, Decreased testicular size	OMIM:615287
Microphthalmia With Limb Anomalies	Venous insufficiency	ORPHA:1106
Ulbright-Hodes Syndrome	Abnormal penis morphology, Cryptorchidism, Pneumothorax, Renal hypoplasia, Pulmonary hypoplasia, ...	ORPHA:3404
Attenuated Familial Adenomatous Polyposis	Multiple renal cysts	ORPHA:220460
Sotos Syndrome	Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Prolonged neonata...	ORPHA:821
Branchiooculofacial Syndrome	Renal agenesis, Hypospadias, Supernumerary nipple, Cryptorchidism, Renal cyst	OMIM:113620
Ulnar-Mammary Syndrome	Ventricular septal defect	OMIM:181450
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Ventricular septal defect	OMIM:620330
Hypermobile Ehlers-Danlos Syndrome	Venous insufficiency, Ascending tubular aorta aneurysm, Arterial dissection	ORPHA:285
Yunis-Varon Syndrome	Cardiomyopathy, Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale	OMIM:216340
Norrie Disease	Venous insufficiency	ORPHA:649

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 Anks6

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 Anks6.

There are 8 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Nephronophthisis-Pathobiology and Molecular Pathogenesis of a Rare Kidney Genetic Disease.	Genes (November 2021)	Anks6^{tm1b(KOMP)Wtsi}	PMC8623546
Loss of Anks6 leads to YAP deficiency and liver abnormalities.	Human molecular genetics (November 2020)	Anks6^{tm1a(KOMP)Wtsi}	32886109
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Anks6^{tm1b(KOMP)Wtsi}	PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation.	Nature immunology (December 2019)	Anks6^{tm1b(KOMP)Wtsi}	PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Anks6^{tm1b(KOMP)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Anks6^{tm1b(KOMP)Wtsi}	PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Anks6^{tm1b(KOMP)Wtsi}	PMC5827107
Highly variable penetrance of abnormal phenotypes in embryonic lethal knockout mice.	Wellcome open research (January 2016)	Anks6^{tm1b(KOMP)Wtsi}	PMC5159622

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MGI Allele	Allele Type	Produced
Anks6^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Anks6^{tm1b(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice
Anks6^{tm36062(L1L2_gt2)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

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: Anks6 MGI:1922941

Gene Summary

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