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Gene: Sema3d MGI:1860118

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Gene Summary

Name:
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D
Synonyms:
4631426B19Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Sema3dtm1b(KOMP)Wtsi HOM   Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Sema3d mutations

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

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

The table below shows human diseases associated to Sema3d by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hirschsprung Disease
ORPHA:388

The table below shows human diseases predicted to be associated to Sema3d by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Atrial Septal Defect 8
Atrial septal defect, Anomalous pulmonary venous return OMIM:614433
Ventricular Septal Defect 1
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... OMIM:614429
Congenital Heart Defects, Multiple Types, 6
Total anomalous pulmonary venous return, Secundum atrial septal defect, Hypoplastic pulmonary vei... OMIM:613854
Pulmonary Atresia With Intact Ventricular Septum
Pulmonary artery atresia, Hypoplastic right heart OMIM:265150
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Interlobular septal thickening, Pulmonary venous occlusion, Pulmonary arterial hypertension, Elev... OMIM:265450
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Ventricular Septal Defect 3
Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect OMIM:614432
Atrial Septal Defect 4
Coarctation of aorta, Atrial septal defect, Patent foramen ovale OMIM:611363
Tricuspid Atresia
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s... ORPHA:1209
Congenital Heart Defects, Multiple Types, 3
Atrioventricular block, Abnormal heart morphology, Tetralogy of Fallot, Atrioventricular dissocia... OMIM:614954
Total Anomalous Pulmonary Venous Return 1
Recurrent respiratory infections, Total anomalous pulmonary venous return, Pulmonary arterial hyp... OMIM:106700
Partial Atrioventricular Septal Defect
Aortic valve stenosis, Mitral regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, Hyp... ORPHA:1330
Atrial Septal Defect 2
Aortic regurgitation, Atrioventricular canal defect, Mitral regurgitation, Ventricular septal def... OMIM:607941
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal coronary artery morphology, Biventricular hypertrophy, Abnormal mitral valve morphology,... ORPHA:860
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... OMIM:617912
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary arterial hypertension, Pulmonary capillary hemangiomatosis, Pulmonary venous occlusion OMIM:234810
Diamond-Blackfan Anemia 16
Atrial septal defect, Pulmonic stenosis OMIM:617408
Scimitar Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Ventricular septal defect, At... ORPHA:185
White Forelock With Malformations
Atrial septal defect, Prominent veins on trunk OMIM:277740
Atrial Septal Defect, Sinus Venosus Type
Junctional ectopic tachycardia, Automatic atrial tachycardia, Systolic heart murmur, Tricuspid re... ORPHA:99105
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Abnormal tricuspid valve morphology, Patent ductus arteriosus ORPHA:1208
Heterotaxy, Visceral, 4, Autosomal
Total anomalous pulmonary venous return, Pulmonary artery atresia, Bilateral superior vena cava, ... OMIM:613751
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mirror image bran... OMIM:606217
Atrial Septal Defect 6
Atrial fibrillation, Atrial septal defect, Bradycardia OMIM:613087
Heterotaxy, Visceral, 6, Autosomal
Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana... OMIM:614779
Cardiomyopathy, Dilated, 2J
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Secundum atrial sept... OMIM:620635
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Bicuspid aortic valve, ... OMIM:618719
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h... OMIM:108900
Distal 7Q11.23 Microdeletion Syndrome
Patent ductus arteriosus, Atrial septal defect ORPHA:254351
Cardiomyopathy, Dilated, 1Oo
Dilated cardiomyopathy, Second degree atrioventricular block, Congestive heart failure, Reduced l... OMIM:620247
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Right ventricular failure, Bundle branch block, Anomalous pulmonary venous return, Tra... ORPHA:99104
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Tetralogy of Fallot, Situs inversus totalis, Atrial septal defect OMIM:601322
Heart Defects-Limb Shortening Syndrome
Abnormal tricuspid valve morphology, Abnormality of the pulmonary artery, Abnormal mitral valve m... ORPHA:1354
Aortic Valve Disease 3
Aortic valve stenosis, Aortic root aneurysm, Bicuspid aortic valve, Atrial septal defect, Ascendi... OMIM:618496
Heterotaxy, Visceral, 7, Autosomal
Interrupted aortic arch, Total anomalous pulmonary venous return, Pulmonary artery hypoplasia, Pu... OMIM:616749
Cardiomyopathy, Dilated, 2D
Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Reduced left ventricular ejec... OMIM:619371
Cardiomyopathy, Familial Restrictive, 3
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de... OMIM:612422
8p23.1 deletion syndrome
Abnormal heart morphology, Atrial septal defect, Atrioventricular canal defect DECIPHER:39
Right Atrial Isomerism
Aortopulmonary collateral arteries, Total anomalous pulmonary venous return, Pulmonary artery atr... OMIM:208530
Coronary Arterial Fistula
Aortic valve stenosis, Bicuspid aortic valve, Arrhythmia, Elevated jugular venous pressure, Atria... ORPHA:2041
Mesoaxial Hexadactyly And Cardiac Malformation
Patent ductus arteriosus, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect OMIM:249670
Ciliary Dyskinesia, Primary, 52
Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Situs inversus t... OMIM:620570
Atrial Septal Defect 1
Aortic valve stenosis, Secundum atrial septal defect, Second degree atrioventricular block, Tetra... OMIM:108800
Cardiac Diverticulum
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Premature ventricular co... ORPHA:1686
Cardiac Septal Defects With Coarctation Of The Aorta
Coarctation of aorta, Perimembranous ventricular septal defect, Secundum atrial septal defect OMIM:212090
Cardiomyopathy, Familial Hypertrophic, 11
Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop... OMIM:612098
Spinal Muscular Atrophy, Type I
Recurrent respiratory infections, Atrial septal defect, Ventricular septal defect OMIM:253300
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Secundum atrial septal defect, Pulmonic stenosis, Abnormal EKG OMIM:178650
Atrial Septal Defect 9
Bicuspid aortic valve, Pulmonary arterial hypertension, Secundum atrial septal defect OMIM:614475
Cardiomyopathy, Familial Hypertrophic, 26
Left anterior fascicular block, Atrioventricular block, Congestive heart failure, Hypertrophic ca... OMIM:617047
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of left pulmonary artery from ascending aorta, Ventricular septal defect, Atrial... ORPHA:99050
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... ORPHA:3282
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,... OMIM:619702
Congenital Tricuspid Valve Dysplasia
Tricuspid regurgitation, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardi... ORPHA:555874
Isolated Right Ventricular Hypoplasia
Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... ORPHA:439
Hypoplastic Left Heart Syndrome
Hypoplastic left heart, Mitral atresia, Mitral stenosis, Atrial septal defect, Hypoplastic aortic... ORPHA:2248
Supravalvular Aortic Stenosis
Peripheral arterial stenosis, Pulmonary artery stenosis, Supravalvular aortic stenosis, Pulmonic ... OMIM:185500
Familial Cutaneous Collagenoma
Angina pectoris, Atrial septal defect, Cardiomyopathy, Congestive heart failure ORPHA:53296
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormal lung lobation, Tricuspid regurgitation, Atrioventricular canal defect, Abnormal aortic v... ORPHA:1120
Pulmonary Capillary Hemangiomatosis
Diffuse alveolar hemorrhage, Right ventricular failure, Interlobular septal thickening, Hemothora... ORPHA:199241
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Arterial intimal fibrosis, Increased p... OMIM:178600
Isotretinoin-Like Syndrome
Aortic valve stenosis, Abnormal cardiac ventricle morphology, Abnormality of the pulmonary veins,... ORPHA:2306
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent foramen ovale, Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, ... OMIM:610338
Holt-Oram Syndrome
Hypoplastic left heart, Atrioventricular block, Paroxysmal atrial fibrillation, Atrioventricular ... ORPHA:392
Arterial Calcification, Generalized, Of Infancy, 2
Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regurgitation, Reduced ... OMIM:614473
Familial Isolated Restrictive Cardiomyopathy
Recurrent respiratory infections, Tricuspid regurgitation, Hypertrophic cardiomyopathy, Mitral re... ORPHA:75249
Diamond-Blackfan Anemia 20
Total anomalous pulmonary venous return OMIM:618313
Adams-Oliver Syndrome 4
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect OMIM:615297
Ebstein Malformation Of The Tricuspid Valve
Ebstein anomaly of the tricuspid valve, Congestive heart failure, Cerebral ischemia, Imperforate ... ORPHA:1880
Cardiac Valvular Dysplasia 2
Aortic regurgitation, Pulmonary artery dilatation, Ascending tubular aorta aneurysm, Tricuspid re... OMIM:620067
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Absence of the pulmonary valve, Tetralogy of Fallot, Right ao... OMIM:618780
Interatrial Communication
Right ventricular dilatation, Atrial flutter, Secundum atrial septal defect, Congestive heart fai... ORPHA:1478
Ebstein Anomaly
Atrial standstill, Ebstein anomaly of the tricuspid valve, Right bundle branch block, Atrial sept... OMIM:224700
Cardiomyopathy, Dilated, 2H
Muscular ventricular septal defect, Reduced left ventricular ejection fraction, Secundum atrial s... OMIM:620203
Congenital Gerbode Defect
Bacterial endocarditis, Elevated right atrial pressure, Right ventricular failure, Holosystolic m... ORPHA:99095
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Myofiber disarray, Pulmonary edema, Left bundle branch block, Right atri... OMIM:115197
15Q11.2 Microdeletion Syndrome
Total anomalous pulmonary venous return, Abnormal heart morphology, Tetralogy of Fallot, Ventricu... ORPHA:261183
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Unbalanced atrioventricular canal defect, Thoracic aortic aneurysm, Dextrotransposition of the gr... OMIM:619657
Aortic Valve Disease 2
Aortic valve stenosis, Aortic regurgitation, Calcification of the aorta, Mitral regurgitation, Pa... OMIM:614823
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect OMIM:617992
Primary Ciliary Dyskinesia
Atelectasis, Atrial situs ambiguous, Abnormal heart morphology, Abnormal atrial arrangement, Pulm... ORPHA:244
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:1909
Meacham Syndrome
Aortic valve stenosis, Hypoplastic left heart, Abnormal lung lobation, Tetralogy of Fallot, Conot... ORPHA:3097
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Transposition of the great ... ORPHA:261243
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt... ORPHA:216694
Atrial Septal Defect 3
Secundum atrial septal defect OMIM:614089
Atrial Septal Defect 5
Secundum atrial septal defect OMIM:612794
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Pulmonary artery atresia, Left superior vena cava draining directly to the left atrium, Ventricul... OMIM:613759
Truncus Arteriosus
Abnormal coronary artery morphology, Ventricular septal defect, Pulmonary edema, Single coronary ... ORPHA:3384
Meacham Syndrome
Hypoplastic left heart, Tetralogy of Fallot, Scimitar anomaly, Right aortic arch, Congenital alve... OMIM:608978
Hydrocephaly-Low Insertion Umbilicus Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Anomalous pulmonary venous return ORPHA:2184
Structural Heart Defects And Renal Anomalies Syndrome
Interrupted aortic arch, Tetralogy of Fallot, Right aortic arch, Truncus arteriosus, Ventricular ... OMIM:617478
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Extracranial Carotid Artery Aneurysm
Vasculitis, Total anomalous pulmonary venous return, Arteritis, Atherosclerosis, Cerebral ischemi... ORPHA:494424
Heterotaxy, Visceral, 8, Autosomal
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... OMIM:617205
Thiamine-Responsive Megaloblastic Anemia Syndrome
Congestive heart failure, Ventricular septal defect, Paroxysmal atrial tachycardia, Stroke, Atria... ORPHA:49827
Cardiomyopathy, Dilated, 1S
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Cong... OMIM:613426
Congenital Pulmonary Valvar Stenosis
Atrial septal defect ORPHA:3189
Congenital Heart Block
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... ORPHA:60041
Bardet-Biedl Syndrome 2
Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect OMIM:615981
Familial Idiopathic Dilatation Of The Right Atrium
Atrioventricular block, Complete heart block with narrow QRS complexes, Holosystolic murmur, Paro... ORPHA:1677
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Pulmonary embolism, Congestive heart failure, Abnormal tricuspid val... ORPHA:90308
Atrial Septal Defect, Ostium Primum Type
Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Right atrial ... ORPHA:99106
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Atrial septal defect, Pulmonic stenosis, Ventricular septal defect OMIM:614262
Absence Of The Pulmonary Artery
Abnormal coronary artery morphology, Pulmonary edema, Atrial septal defect, Tachycardia, Patent d... ORPHA:980
Short Stature, Developmental Delay, And Congenital Heart Defects
Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:617044
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Patent foramen ovale, Bradycardia OMIM:617182
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Pulmonary lymphangiectasi... OMIM:265380
Congenital Heart Defects, Multiple Types, 9
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... OMIM:620294
Heterotaxy, Visceral, 5, Autosomal
Total anomalous pulmonary venous return, Atrial reentry tachycardia, Atrioventricular canal defec... OMIM:270100
Congenital Myopathy 11
Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale OMIM:619967
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Epistaxis, Hematochezia, Aortic dissection, Mitral regurgitation, Mitral valve prolapse, Pulmonar... OMIM:175050
Chromosome 15Q14 Deletion Syndrome
Recurrent viral upper respiratory tract infections, Atrial septal defect, Ventricular septal defect OMIM:616898
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Cardiomegaly, Atrial septa... OMIM:620135
Laubry-Pezzi Syndrome
Aortic regurgitation, Abnormal coronary artery morphology, Congestive heart failure, Palpitations... ORPHA:99094
Tetraamelia Syndrome 2
Bilateral lung agenesis, Hypoplastic pulmonary veins, Ventricular septal defect OMIM:618021
Telangiectasia, Hereditary Hemorrhagic, Type 4
Arteriovenous fistulas of celiac and mesenteric vessels, Spinal arteriovenous malformation, Right... OMIM:610655
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect OMIM:608227
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Atrial septal defect OMIM:113301
Smooth Muscle Dysfunction Syndrome
Pulmonary artery dilatation, Dilatation of the cerebral artery, Aortic arch aneurysm, Common caro... OMIM:613834
Pericardial And Diaphragmatic Defect
Abnormal heart morphology, Partial diaphragmatic absence of pericardium, Tetralogy of Fallot, Pal... ORPHA:2847
Global Developmental Delay With Or Without Impaired Intellectual Development
Patent ductus arteriosus, Pulmonary sequestration, Atrial septal defect, Ventricular septal defect OMIM:618330
Chromosome 1P36 Deletion Syndrome, Proximal
Dilated cardiomyopathy, Biventricular hypertrophy, Coronary artery fistula, Complete atrioventric... OMIM:619343
Timothy Syndrome
Pneumonia, Atrioventricular block, Bronchitis, Tetralogy of Fallot, Patent foramen ovale, Ventric... OMIM:601005
Catel-Manzke Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:1388
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Br... ORPHA:95430
Atrial Septal Defect, Ostium Secundum Type
Mitral regurgitation, Abnormal mitral valve morphology, Arrhythmia, Right atrial enlargement, Sys... ORPHA:99103
Cirrhotic Cardiomyopathy
Congestive heart failure, Elevated pulmonary artery pressure, Ventricular arrhythmia, Reduced lef... ORPHA:57777
Cardiac Valvular Dysplasia 1
Left aortic arch with cervical origin of the right subclavian artery, Arteria lusoria, Valvular p... OMIM:212093
Hadziselimovic Syndrome
Ventricular hypertrophy, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, Pu... OMIM:612946
Transaldolase Deficiency
Telangiectasia, Biventricular hypertrophy, Coarctation of aorta, Atrial septal defect ORPHA:101028
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Bilateral trilobed lung, Atrial septal defect, Dextrocardia, Single ve... OMIM:306955
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial se... OMIM:618652
Li-Campeau Syndrome
Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:619189
Surfactant Metabolism Dysfunction, Pulmonary, 1
Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar phospholipid accumulation, Int... OMIM:265120
46,Xx Sex Reversal 5
Hypoplastic left heart, Secundum atrial septal defect, Ventricular septal defect OMIM:618901
Ciliary Dyskinesia, Primary, 53
Recurrent pneumonia, Situs inversus totalis, Right aortic arch, Patent foramen ovale, Cardiomegal... OMIM:620642
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiomyopathy, Situs inversus totalis, Ventricular septal defect, Stroke, Arrhythmia, Atrial sep... OMIM:249270
Bardet-Biedl Syndrome 19
Hypoplastic left heart, Partial atrioventricular canal defect, Ventricular septal defect, Atrial ... OMIM:615996
Xk Aprosencephaly Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:3469
14Q24.1Q24.3 Microdeletion Syndrome
Abnormal heart morphology, Truncus arteriosus, Ventricular septal defect, Atrial septal defect, P... ORPHA:401935
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De... ORPHA:99125
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiogenic shock, Hypertrophic cardiomyopath... OMIM:619424
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Atrial septal defect ORPHA:52056
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Bicuspid aortic valve, Recurrent lower respiratory tract infections, Atrial septal defect OMIM:617744
Noonan Syndrome 11
Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis OMIM:618499
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Elevated jugular ... ORPHA:1329
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Tetralogy of Fallot, Mitral regurgitation, Mitral valve prolapse, Ventri... OMIM:612561
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Ventricular septal defect, Atrial septal defect, Tachycardia, Hypertension, Patent ductus arteriosus OMIM:613870
Linear Skin Defects With Multiple Congenital Anomalies 2
Tetralogy of Fallot, Ventricular hypertrophy, Pulmonary arterial hypertension, Atrial septal defect OMIM:300887
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Cardiac-Urogenital Syndrome
Hypoplastic left heart, Coronary sinus enlargement, Interrupted aortic arch, Biventricular hypert... OMIM:618280
Alagille Syndrome 2
Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Atrial septal defect, Hypertension, Pu... OMIM:610205
Oligomeganephronia
Secundum atrial septal defect, Hypertension, Pulmonary venous occlusion, Pulmonary hypoplasia ORPHA:2260
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial flutter, Ventricular septal defect, Overriding aorta, Atrial septal defect, Patent ductus ... OMIM:601927
Telangiectasia, Hereditary Hemorrhagic, Type 1
Pulmonary hemorrhage, Nasal mucosa telangiectasia, High-output congestive heart failure, Gastroin... OMIM:187300
Noonan Syndrome 8
Hypertrophic cardiomyopathy, Pleural effusion, Mitral regurgitation, Ventricular septal defect, L... OMIM:615355
Formiminoglutamic Aciduria
Atrial septal defect ORPHA:51208
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
Patent foramen ovale OMIM:618832
Li-Ghorbani-Weisz-Hubshman Syndrome
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect OMIM:618974
Lessel-Kreienkamp Syndrome
Patent foramen ovale, Bicuspid aortic valve, Atrial septal defect, Patent ductus arteriosus, Pulm... OMIM:619149
Cardiofaciocutaneous Syndrome 3
Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect OMIM:615279
3-Methylglutaconic Aciduria, Type V
Dilated cardiomyopathy, Congestive heart failure, Noncompaction cardiomyopathy, Atrial septal def... OMIM:610198
Atrioventricular Septal Defect 4
Primum atrial septal defect OMIM:614430
Fetal Trimethadione Syndrome
Tetralogy of Fallot, Transposition of the great arteries, Atrial septal defect, Ventricular septa... ORPHA:1913
8Q12 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:228399
Telangiectasia, Hereditary Hemorrhagic, Type 2
Nasal mucosa telangiectasia, Gastrointestinal angiodysplasia, Facial telangiectasia, Cerebral art... OMIM:600376
Cat Eye Syndrome
Hypoplastic left heart, Total anomalous pulmonary venous return, Tetralogy of Fallot, Ventricular... OMIM:115470
Congenital Rubella Syndrome
Patent ductus arteriosus, Atrial septal defect, Abnormality of the pulmonary artery, Ventricular ... ORPHA:290
Ritscher-Schinzel Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Do... OMIM:220210
Recombinant Chromosome 8 Syndrome
Tetralogy of Fallot, Ventricular septal defect, Double outlet right ventricle, Atrial septal defe... OMIM:179613
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Gastrointestinal hemorrhage, Abnormal cerebral vascular morphology, Conges... ORPHA:363705
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Parachute mitral valve, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Dou... OMIM:618316
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Atrial septal defect OMIM:620094
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Abnormal aortic morphology, Abnormality of the pulmonary artery, Ventricular... ORPHA:1166
Intellectual Developmental Disorder, Autosomal Dominant 21
Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect OMIM:615502
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Secundum atrial septal defect, Congestive heart failure, Tricuspid regurgit... OMIM:620066
Congenital Alveolar Capillary Dysplasia
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... ORPHA:210122
Microphthalmia, Syndromic 9
Hypoplastic left atrium, Right aortic arch with mirror image branching, Agenesis of pulmonary ves... OMIM:601186
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Pulmonary fibrosis, Secundum atrial septal defect OMIM:611926
20P12.3 Microdeletion Syndrome
Atrial septal defect, Wolff-Parkinson-White syndrome ORPHA:261295
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Patent foramen ovale, Arrhythmia, Bradycardia, Sick sinus syndrome, Pr... ORPHA:542306
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Tetralogy of Fallot, Persistent left superior vena cava, Overriding aorta, Double outlet right ve... ORPHA:3304
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Dilated cardiomyopathy, Ventricular bigeminy, Tricuspid regurgitation, Left ventricular systolic ... OMIM:620519
Dohle Bodies And Leukemia
Secundum atrial septal defect OMIM:223350
Hereditary Hemorrhagic Telangiectasia
Arteriovenous malformation, Nasal mucosa telangiectasia, Telangiectasia, Retinal telangiectasia, ... ORPHA:774
Hypomandibular Faciocranial Dysostosis
Patent ductus arteriosus, Atrial septal defect OMIM:241310
Temple-Baraitser Syndrome
Atrial septal defect, Pulmonic stenosis OMIM:611816
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Patent ductus arteriosus, Patent foramen ovale, Pulmonary hypoplasia OMIM:616867
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Aspiration pneumonia, Tricuspid regurgitation, Left ventricular noncompac... OMIM:619167
Lymphatic Malformation 7
Chylothorax, Pleural effusion, Pulmonary edema, Atrial septal defect, Varicose veins, Pericardial... OMIM:617300
Developmental And Epileptic Encephalopathy 18
Aortic regurgitation, Atrial septal defect OMIM:615476
Ciliary Dyskinesia, Primary, 20
Aortic valve stenosis, Recurrent pneumonia, Atelectasis, Situs inversus totalis, Atrial situs inv... OMIM:615067
Double Outlet Left Ventricle
Abnormal right ventricular function, Cardiomegaly, Ventricular septal defect, Bicuspid pulmonary ... ORPHA:3427
Chromosome 5Q12 Deletion Syndrome
Hypotension, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Patent ductus... OMIM:615668
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Atrial septal defect, Pulmonic stenosis OMIM:619239
Atelis Syndrome 1
Bronchiectasis, Atrial septal defect, Ventricular septal defect OMIM:620184
Chops Syndrome
Aspiration pneumonia, Patent foramen ovale, Ventricular septal defect, Patent ductus arteriosus, ... OMIM:616368
Immunodeficiency 110 With Lymphoproliferation
Recurrent upper respiratory tract infections, Recurrent pneumonia, Secundum atrial septal defect,... OMIM:614868
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Secundum atrial septal defect, Ventricular septal defect, Coarctation of aorta, Perimembranous ve... OMIM:600987
Hyperinsulinemic Hypoglycemia, Familial, 8
Atrial septal defect OMIM:620211
Developmental And Epileptic Encephalopathy 102
Situs inversus totalis, Atrial septal defect OMIM:619881
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Atrial septal defect, Aortic root aneurysm, Mitral regurgitation, Ventricular septal defect OMIM:301039
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent pneumonia, Recurrent sinusitis, Atrial septal defect, Recurrent respiratory infections,... OMIM:618282
Double Outlet Right Ventricle
Hypoplastic left heart, Pulmonary artery atresia, Tetralogy of Fallot, Heart murmur, Ventricular ... ORPHA:3426
Megalencephaly
Atrial septal defect ORPHA:2477
Primary Pulmonary Hypoplasia
Abnormal pulmonary artery morphology, Secundum atrial septal defect, Pneumothorax, Dextrocardia, ... ORPHA:2257
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Recurrent upper respiratory tract infections, Recurrent pneumonia, Ventricular septal defect, Atr... OMIM:619769
Frontoocular Syndrome
Atrial septal defect, Pulmonic stenosis OMIM:605321
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect ORPHA:75389
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Patent ductus arteriosus, Hypoplastic right heart, Atrial septal defect, Ventricular septal defect OMIM:618142
Developmental And Epileptic Encephalopathy 90
Atrial septal defect OMIM:301058
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve... ORPHA:477817
Hamel Cerebro-Palato-Cardiac Syndrome
Atrial septal defect ORPHA:93946
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Pneumonia, Atrioventricular block, Dilated cardiomyopathy, Patent foramen ovale, Ventricular sept... ORPHA:26793
Down Syndrome
Tetralogy of Fallot, Atrioventricular canal defect, Complete atrioventricular canal defect, Paten... OMIM:190685
Adams-Oliver Syndrome 5
Patent foramen ovale, Pulmonary arterial hypertension, Right atrial enlargement, Right ventricula... OMIM:616028
Autism Spectrum Disorder Due To Auts2 Deficiency
Abnormal heart morphology, Atrial septal defect ORPHA:352490
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Atelectasis, Cystic pattern on pulmonary HRCT, Ventricular septal defect, Atrial septal defect, R... OMIM:610978
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Mitral regurgitation, Vascular ring, Ventricular septal defect OMIM:603387
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Second degree atrioventricular block, Biventricular hypertrophy, Patent foramen ovale, Ventricula... OMIM:615474
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Persistent left super... OMIM:618494
Transketolase Deficiency
Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Atrial septal defect,... ORPHA:488618
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Restrictive cardiomyopathy, Mitral regurgitation, Patent foramen ovale ORPHA:88630
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Aortic regurgitation, Tricuspid regurgitation, Mitral regurgitation, Mitral valve prolapse, Bicus... ORPHA:555877
Dextrocardia
Abnormal EKG, Abnormal heart morphology, Abnormal lung lobation, Situs inversus totalis, Abnormal... ORPHA:1666
Prune Belly Syndrome
Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, Aplasia/Hypoplasia of the l... ORPHA:2970
Long-Olsen-Distelmaier Syndrome
Dilated cardiomyopathy, Secundum atrial septal defect, Congestive heart failure, Ventricular sept... OMIM:620609
Bone Dysplasia, Lethal Holmgren Type
Hypertrophic cardiomyopathy, Patent ductus arteriosus, Atrial septal defect, Recurrent respirator... ORPHA:1842
Intellectual Developmental Disorder, Autosomal Dominant 66
Cerebral cavernous malformation, Secundum atrial septal defect, Aortic root aneurysm, Transpositi... OMIM:619910
Diamond-Blackfan Anemia 4
Atrial septal defect OMIM:612527
Unilateral Polymicrogyria
Abnormal heart morphology, Epistaxis, Stroke, Pulmonary arteriovenous malformation ORPHA:268943
Trisomy X
Atrial septal defect, Ventricular septal defect ORPHA:3375
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Atrial septal defect OMIM:615160
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Secundum atrial septal defect, Cardiomyopathy, Congestive heart failure, Patent foramen ovale, Pa... OMIM:616866
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Atrial septal defect, Congestive heart failure ORPHA:500533
Transaldolase Deficiency
Patent foramen ovale, Ventricular septal defect, Telangiectasia, Coarctation of aorta, Atrial sep... OMIM:606003
Even-Plus Syndrome
Atrial septal defect, Patent foramen ovale OMIM:616854
Eisenmenger Syndrome
Ventricular septal defect, Elevated jugular venous pressure, Atrial septal defect, Patent ductus ... ORPHA:97214
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Patent ductus arteriosus, Pulmonary arterial hypertension, Coarctation of aorta, Atrial septal de... OMIM:614857
Developmental And Epileptic Encephalopathy 66
Atrial septal defect, Dextrocardia, Ventricular septal defect OMIM:618067
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Arterial rupture, Atrial septal defect OMIM:619115
Polysyndactyly With Cardiac Malformation
Atrial septal defect, Ventricular septal defect OMIM:263630
Waardenburg Syndrome Type 3
Atrial septal defect, Atelectasis ORPHA:896
Al-Raqad Syndrome
Atrial septal defect OMIM:616459
Seizures-Scoliosis-Macrocephaly Syndrome
Atrial septal defect ORPHA:466926
Lissencephaly Syndrome, Norman-Roberts Type
Atrial septal defect, Patent foramen ovale ORPHA:89844
Suleiman-El-Hattab Syndrome
Recurrent respiratory infections, Atrial septal defect, Patent foramen ovale, Ventricular septal ... OMIM:618950
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Pulmonary artery hypoplasia, Dilated cardiomyopathy, Congestive heart failu... ORPHA:2326
Abruzzo-Erickson Syndrome
Atrial septal defect ORPHA:921
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Pat... ORPHA:329224
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Tricuspid regurgitation, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, P... OMIM:618870
Autosomal Recessive Spondylocostal Dysostosis
Anomalous pulmonary venous return ORPHA:2311
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Patent ductus arteriosus, Pulmonary arterial hypertension, Atrial septal defect, Ventricular sept... ORPHA:2519
Coffin-Siris Syndrome 5
Atrial septal defect OMIM:616938
Tyshchenko Syndrome
Atrial septal defect, Pulmonic stenosis, Ventricular septal defect OMIM:615102
Microcephaly-Capillary Malformation Syndrome
Right ventricular hypertrophy, Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:614261
Schuurs-Hoeijmakers Syndrome
Bicuspid aortic valve, Patent foramen ovale, Patent ductus arteriosus, Abnormal cardiac septum mo... OMIM:615009
Beta-Mercaptolactate Cysteine Disulfiduria
Atrial septal defect ORPHA:1035
Noonan Syndrome 10
Hypertrophic cardiomyopathy, Pleural effusion, Mitral regurgitation, Mitral valve prolapse, Mitra... OMIM:616564
17Q12 Microduplication Syndrome
Atrial septal defect ORPHA:261272
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Recurrent pneumonia, Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, ... ORPHA:500159
Seckel Syndrome 9
Pulmonary artery hypoplasia, Atrial septal defect, Recurrent respiratory infections, Ventricular ... OMIM:616777
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Abnormal heart morphology, Muscular ventricular septal defect, Perimembranous ventricular septal ... ORPHA:363444
Meckel Syndrome, Type 7
Aortic valve stenosis, Situs inversus totalis, Portal hypertension, Patent ductus arteriosus, Atr... OMIM:267010
3C Syndrome
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... ORPHA:7
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrioventricular block, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, ... ORPHA:371428
Thanatophoric Dysplasia Type 2
Patent ductus arteriosus, Atrial septal defect, Aplasia/Hypoplasia of the lungs ORPHA:93274
Kagami-Ogata Syndrome
Ventricular septal defect, Pulmonary arterial hypertension, Atrial septal defect, Patent ductus a... OMIM:608149
Tetrasomy 15Q26
Hypoplastic aortic arch, Atrial septal defect, Patent ductus arteriosus OMIM:614846
Potocki-Lupski Syndrome
Atrial septal defect, Patent foramen ovale OMIM:610883
Tempi Syndrome
Telangiectasia, Intracranial hemorrhage, Abnormality of the pulmonary vasculature, Transudative p... ORPHA:284227
Thanatophoric Dysplasia
Patent ductus arteriosus, Atrial septal defect, Pulmonary hypoplasia ORPHA:2655
Tatton-Brown-Rahman Syndrome
Tricuspid regurgitation, Atrial septal defect, Mitral regurgitation, Ventricular septal defect OMIM:615879
Paternal Uniparental Disomy Of Chromosome 5
Secundum atrial septal defect ORPHA:96190
Tatton-Brown-Rahman Syndrome
Aortic root aneurysm, Tricuspid regurgitation, Mitral regurgitation, Supraventricular tachycardia... ORPHA:404443
Chromosome 6Q24-Q25 Deletion Syndrome
Tricuspid regurgitation, Mitral valve prolapse, Dysplastic tricuspid valve, Persistent fetal circ... OMIM:612863
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Patent foramen ovale OMIM:615156
Stevenson-Carey Syndrome
Atrial septal defect, Left superior vena cava draining to coronary sinus OMIM:611961
Snijders Blok-Campeau Syndrome
Perimembranous ventricular septal defect, Atrial septal defect, Pulmonic stenosis OMIM:618205
Noonan Syndrome 5
Hypertrophic cardiomyopathy, Arrhythmia, Atrial septal defect, Pulmonic stenosis OMIM:611553
White Forelock With Malformations
Atrial septal defect ORPHA:2475
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Pericardial effusion, Aortic aneurysm, Multiple muscular ventricular septal defects, Atrial septa... OMIM:620070
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Atrial septal defect OMIM:619356
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Endocardial fibroelastosis, Right atrial enlargement, Restrictive cardiomyopathy, Pericardial eff... OMIM:619313
Cardiac-Valvular Ehlers-Danlos Syndrome
Aortic regurgitation, Aortic root aneurysm, Tricuspid regurgitation, Abnormal heart valve morphol... ORPHA:230851
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abnormal pulmonary interstitial morphology, Atelectasis, Tricuspid regurgitation, Pleural effusio... OMIM:620233
16P12.1P12.3 Triplication Syndrome
Abnormal heart morphology, Tachycardia, Abnormal tricuspid valve morphology, Atrial septal defect ORPHA:485405
Zechi-Ceide Syndrome
Abnormal heart morphology, Atrial septal defect ORPHA:217017
Pseudo-Torch Syndrome 2
Secundum atrial septal defect, Pleural effusion, Bradycardia, Cerebral hemorrhage, Patent ductus ... OMIM:617397
Ferguson-Bonni Neurodevelopmental Syndrome
Coronary-pulmonary artery fistula, Patent foramen ovale OMIM:619699
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Situs inversus totalis, Primum atrial septal defect, Partial atrioventricular canal defect OMIM:619608
Pontocerebellar Hypoplasia, Type 17
Secundum atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:619909
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic valve stenosis, Ventricular hypertrophy, Aortic root aneurysm, Congestive heart failure, E... ORPHA:363618
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Patent foramen ovale, Mitral regurgitation, Mitral valve prolapse OMIM:615539
Chronic Thromboembolic Pulmonary Hypertension
Right ventricular failure, Pulmonary embolism, Congestive heart failure, Abnormal T-wave, Palpita... ORPHA:70591
Heart Defects, Congenital, And Other Congenital Anomalies
Interrupted aortic arch, Total absence of the pericardium, Hypoplastic tricuspid valve, Tetralogy... OMIM:600001
Chromosome 6Pter-P24 Deletion Syndrome
Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Telangiectasia, Atrial sept... OMIM:612582
Combined Oxidative Phosphorylation Deficiency 9
Hypertrophic cardiomyopathy, Patent foramen ovale OMIM:614582
Desmosterolosis
Patent ductus arteriosus, Anomalous pulmonary venous return ORPHA:35107
Burn-Mckeown Syndrome
Atrial septal defect, Ventricular septal defect OMIM:608572
Emanuel Syndrome
Aortic valve stenosis, Recurrent sinusitis, Truncus arteriosus, Ventricular septal defect, Atrial... OMIM:609029
Coffin-Siris Syndrome 6
Atrial septal defect OMIM:617808
Contractural Arachnodactyly, Congenital
Aortic root aneurysm, Mitral regurgitation, Mitral valve prolapse, Ventricular septal defect, Bic... OMIM:121050
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale OMIM:620327
Rhizomelic Limb Shortening With Dysmorphic Features
Patent foramen ovale OMIM:618821
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Aortic valve stenosis, Atrial septal defect, Hypoplastic left heart, Mitral stenosis OMIM:617660
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Hypoplastic left heart, Bicuspid aortic valve, Atrial septal defect OMIM:619721
Greig Cephalopolysyndactyly Syndrome
Abnormal heart morphology, Atrial septal defect OMIM:175700
Encephalocraniocutaneous Lipomatosis
Peripheral pulmonary artery stenosis, Subvalvular aortic stenosis, Atrial septal defect, Ventricu... OMIM:613001
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Atrial septal defect OMIM:611087
Ritscher-Schinzel Syndrome 2
Pulmonary artery hypoplasia, Patent ductus arteriosus, Atrial septal defect, Ventricular septal d... OMIM:300963
Lujan-Fryns Syndrome
Atrial septal defect ORPHA:776
20Q13.33 Microdeletion Syndrome
Hematochezia, Abnormal cardiac ventricle morphology, Dilation of Virchow-Robin spaces, Atrial sep... ORPHA:261311
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion
Atrial septal defect, Ventricular septal defect ORPHA:261190
3P25.3 Microdeletion Syndrome
Coronary artery atherosclerosis, Ventricular septal defect, Atrial septal defect, Patent ductus a... ORPHA:435638
Trisomy 13
Patent ductus arteriosus, Abnormal lung lobation, Atrial septal defect, Ventricular septal defect ORPHA:3378
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Atrial septal defect ORPHA:521308
Hypermethioninemia Due To Adenosine Kinase Deficiency
Coarctation of aorta, Secundum atrial septal defect, Pulmonic stenosis OMIM:614300
Agnathia-Otocephaly Complex
Situs inversus totalis, Secundum atrial septal defect, Pulmonary hypoplasia OMIM:202650
Teebi Hypertelorism Syndrome 1
Pulmonary hypoplasia, Aortic root aneurysm, Atrial septal defect, Ventricular septal defect OMIM:145420
Buratti-Harel Syndrome
Recurrent pneumonia, Dilation of Virchow-Robin spaces, Atrial septal defect OMIM:619314
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Transposition of the great arteries, Patent foramen ovale OMIM:616789
Houge-Janssens Syndrome 3
Muscular ventricular septal defect, Atrial septal defect OMIM:618354
Cardioacrofacial Dysplasia 2
Atrioventricular canal defect, Common atrium, Left superior vena cava draining to coronary sinus OMIM:619143
Hardikar Syndrome
Portal hypertension, Patent foramen ovale, Ventricular septal defect, Pulmonary artery stenosis, ... OMIM:301068
Alagille Syndrome
Peripheral pulmonary artery stenosis, Ventricular septal defect, Telangiectasia of the skin, Atri... ORPHA:52
Noonan Syndrome With Multiple Lentigines
Hypertrophic cardiomyopathy, Bundle branch block, Atrioventricular canal defect, Abnormal pulmona... ORPHA:500
Brain-Lung-Thyroid Syndrome
Recurrent pneumonia, Patent foramen ovale, Ventricular septal defect, Pulmonary arterial hyperten... ORPHA:209905
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Mitral regurgitation, Ventricular septal defect, Arrhythmia, Atrial septal ... ORPHA:254346
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Hypertrophic cardiomyopathy, Recurrent respiratory infections, Atrial septal defect OMIM:619383
Peters Plus Syndrome
Hypoplastic left heart, Abnormality of the pulmonary artery, Abnormal pulmonary vein morphology, ... ORPHA:709
Chromosome 18Q Deletion Syndrome
Aortic valve stenosis, Absence of the pulmonary valve, Congestive heart failure, Ventricular sept... OMIM:601808
Joubert Syndrome 3
Atrial septal defect OMIM:608629
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Atrial septal defect, Patent foramen ovale OMIM:620075
Pentalogy Of Cantrell
Tetralogy of Fallot, Abnormal pericardium morphology, Ventricular septal defect, Atrial septal de... ORPHA:1335
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect OMIM:220500
Distal Xq28 Microduplication Syndrome
Epistaxis, Recurrent upper respiratory tract infections, Patent ductus arteriosus, Patent foramen... ORPHA:293939
Sifrim-Hitz-Weiss Syndrome
Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Atrial septal defect, Paten... OMIM:617159
Noonan Syndrome 7
Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis OMIM:613706
Intellectual Developmental Disorder, Autosomal Recessive 65
Secundum atrial septal defect, Atrial septal defect OMIM:618109
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Right ventricular hypertrophy, Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:208085
Chromosome 17Q12 Duplication Syndrome
Atrial septal defect OMIM:614526
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Heart murmur, Atrial septal defect ORPHA:2728
Lymphatic Malformation 13
Mitral regurgitation, Patent foramen ovale, Pulmonary arterial hypertension, Atrial septal defect... OMIM:620244
Mosaic Variegated Aneuploidy Syndrome 2
Aortic regurgitation, Abnormal lung lobation, Ventricular septal defect, Coarctation of aorta, Su... OMIM:614114
Peroxisome Biogenesis Disorder 12A (Zellweger)
Patent ductus arteriosus, Double outlet right ventricle, Atrial septal defect OMIM:614886
Emanuel Syndrome
Aortic valve stenosis, Truncus arteriosus, Ventricular septal defect, Atrial septal defect, Recur... ORPHA:96170
Acrocardiofacial Syndrome
Tetralogy of Fallot, Mitral stenosis, Truncus arteriosus, Ventricular septal defect, Coarctation ... ORPHA:2008
Chromosome 9P Deletion Syndrome
Ventricular septal defect, Perimembranous ventricular septal defect, Atrial septal defect, Heart ... OMIM:158170
Meckel Syndrome, Type 4
Atrial septal defect, Ventricular septal defect OMIM:611134
Adams-Oliver Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Bi... OMIM:100300
Congenital Disorder Of Glycosylation, Type Iil
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect OMIM:614576
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Atrial septal defect, Ventricular septal defect OMIM:617452
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Interrupted aortic arch, Hypoplastic tricuspid valve, Congenital defect of the pericardium, Tetra... ORPHA:2255
Fanconi Anemia, Complementation Group I
Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:609053
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Peripheral pulmonary artery stenosis, Aortic root aneurysm, Hypertrophic cardiomyopathy, Tricuspi... OMIM:617506
Basel-Vanagaite-Smirin-Yosef Syndrome
Recurrent pneumonia, Pulmonary arterial hypertension, Atrial septal defect, Ventricular septal de... OMIM:616449
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Peripheral pulmonary artery stenosis, Atrial septal defect OMIM:614749
Noonan Syndrome 4
Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect OMIM:610733
Mucopolysaccharidosis-Plus Syndrome
Recurrent pneumonia, Congestive heart failure, Hypertrophic cardiomyopathy, Atrial septal defect,... OMIM:617303
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect OMIM:617061
Noonan Syndrome 2
Cardiomyopathy, Hypertrophic cardiomyopathy, Atrioventricular canal defect, Mitral stenosis, Mitr... OMIM:605275
Loeys-Dietz Syndrome 2
Aortic root aneurysm, Generalized arterial tortuosity, Abdominal aortic aneurysm, Mitral valve pr... OMIM:610168
Orotic Aciduria
Atrial septal defect, Ventricular septal defect OMIM:258900
Histiocytosis-Lymphadenopathy Plus Syndrome
Facial telangiectasia, Mitral valve prolapse, Ventricular septal defect, Cardiomegaly, Pulmonary ... OMIM:602782
Desmosterolosis
Total anomalous pulmonary venous return, Patent ductus arteriosus OMIM:602398
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect ORPHA:457193
Congenital Disorder Of Glycosylation, Type Il
Pericardial effusion, Atrial septal defect OMIM:608776
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies
Recurrent lower respiratory tract infections, Secundum atrial septal defect OMIM:620194
Alazami Syndrome
Atrial septal defect ORPHA:319671
Noonan Syndrome 3
Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal defect, Patent foramen ova... OMIM:609942
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome
Abnormality of the pulmonary artery ORPHA:1065
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Bicuspid aortic valve, Dilation of Virchow-Robin spaces, Atrial septal defect OMIM:619720
Shashi-Pena Syndrome
Patent ductus arteriosus, Dilation of Virchow-Robin spaces, Atrial septal defect OMIM:617190
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome
Left ventricular hypertrophy, Atrial septal defect, Left-to-right shunt OMIM:620510
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:505237
Carpenter Syndrome 1
Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries, Atrial septa... OMIM:201000
Axenfeld-Rieger Syndrome, Type 3
Patent ductus arteriosus, Atrial septal defect OMIM:602482
Pseudotrisomy 13 Syndrome
Complete atrioventricular canal defect, Ventricular septal defect, Coarctation of aorta, Atrial s... OMIM:264480
Thanatophoric Dysplasia Type 1
Patent ductus arteriosus, Atrial septal defect, Aplasia/Hypoplasia of the lungs ORPHA:1860
Mosaic Trisomy 16
Abnormal heart morphology, Ventricular septal defect, Single coronary artery origin, Coarctation ... ORPHA:1708
Recombinant 8 Syndrome
Tetralogy of Fallot, Ventricular septal defect, Pulmonary artery stenosis, Atrial septal defect, ... ORPHA:96167
Distal Triplication 15Q
Abnormal heart morphology, Atrial septal defect, Hypoplastic aortic arch, Patent ductus arteriosu... ORPHA:314588
Congenital Heart Defects And Skeletal Malformations Syndrome
Aortic root aneurysm, Ventricular septal defect, Coarctation of aorta, Atrial septal defect, Repe... OMIM:617602
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Abnormal cerebral vascular morphology, Arterial stenosis, Stroke, Vascular dilatation, Atrial sep... ORPHA:2637
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve... ORPHA:457279
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Arrhythmia, Atrial septal defect, Patent foramen ovale OMIM:619184
Contractures-Developmental Delay-Pierre Robin Syndrome
Peripheral pulmonary artery stenosis, Atrial septal defect ORPHA:436003
Juvenile Polyposis Syndrome
Hematochezia, Gastrointestinal hemorrhage, Epistaxis, Arteriovenous malformation, Transient ische... ORPHA:2929
17Q23.1Q23.2 Microdeletion Syndrome
Patent ductus arteriosus, Pulmonary arterial hypertension, Atrial septal defect ORPHA:261279
Monosomy 18Q
Aortic valve stenosis, Secundum atrial septal defect, Absence of the pulmonary valve, Congestive ... ORPHA:1600
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Recurrent respiratory infections, Secundum atrial septal defect, Hypertension OMIM:619758
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Intestinal lymphangiectasia, Pleural effusion, Ventricular septal defect, Thyroid lymphangiectasi... OMIM:235510
Intellectual Developmental Disorder, Autosomal Recessive 72
Secundum atrial septal defect OMIM:618665
Noonan Syndrome 13
Atrial septal defect, Mitral regurgitation, Mitral valve prolapse OMIM:619087
Hypomandibular Faciocranial Dysostosis
Patent ductus arteriosus, Atrial septal defect, Recurrent respiratory infections ORPHA:1790
Nestor-Guillermo Progeria Syndrome
Sinus tachycardia, Atherosclerosis, Mitral regurgitation, Right bundle branch block, Left atrial ... OMIM:614008
Insulin-Like Growth Factor I, Resistance To
Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:270450
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Congestive heart failure, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Abnormal heart mo... ORPHA:505248
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Dilated cardiomyopathy, Transposition of the great arteries, Atrial septal defect, Pulmonic steno... OMIM:253800
Proximal 16P11.2 Microdeletion Syndrome
Abnormal heart morphology, Abnormal aortic valve morphology, Atrial septal defect, Dextrocardia ORPHA:261197
Intellectual Developmental Disorder, X-Linked, Syndromic 35
Pulmonary artery stenosis, Dilation of Virchow-Robin spaces, Atrial septal defect, Ventricular se... OMIM:300998
Mandibulofacial Dysostosis-Microcephaly Syndrome
Atrial septal defect ORPHA:79113
Diamond-Blackfan Anemia 7
Tetralogy of Fallot, Secundum atrial septal defect, Patent ductus arteriosus, Ventricular septal ... OMIM:612562
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Aortic valve stenosis, Atrial septal defect ORPHA:459061
Bdv Syndrome
Atrial septal defect OMIM:619326
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Atrial septal defect, Mitral valve prolapse OMIM:300986
Kapur-Toriello Syndrome
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect OMIM:244300
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Pulmonary artery atresia, Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect OMIM:620113
Al Kaissi Syndrome
Atrial septal defect OMIM:617694
Proximal Spinal Muscular Atrophy
Recurrent infections due to aspiration, Recurrent aspiration pneumonia, Atrial septal defect, Bra... ORPHA:70
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Patent foramen ovale, Pulmonic stenosis OMIM:618914
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Ascending tubular aorta aneurysm, Atrial septal defect, Ventricular septal defect OMIM:309520
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Abnormal heart morphology, Total anomalous pulmonary venous return, Patent ductus arteriosus ORPHA:487796
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent upper respiratory tract infections, Secundum atrial septal defect, Recurrent respirator... OMIM:612541
7Q31 Microdeletion Syndrome
Patent ductus arteriosus after birth at term, Recurrent respiratory infections, Atrial septal defect ORPHA:251061
Brachytelephalangic Chondrodysplasia Punctata
Ventricular septal defect, Pulmonary artery stenosis, Atrial septal defect, Recurrent respiratory... ORPHA:79345
Kabuki Syndrome 2
Atrioventricular canal defect, Coarctation of aorta, Atrial septal defect, Pulmonic stenosis OMIM:300867
Mosaic Trisomy 9
Abnormal lung lobation, Abnormal heart valve morphology, Endocardial fibroelastosis, Ventricular ... ORPHA:99776
Lymphatic Malformation 6
Chylothorax, Intestinal lymphangiectasia, Pleural effusion, Atrial septal defect, Varicose veins OMIM:616843
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Right atrial enlargement, Atrial septal defect OMIM:615219
Lymphedema-Distichiasis Syndrome
Abnormality of the pulmonary vasculature, Arrhythmia, Patent ductus arteriosus, Varicose veins ORPHA:33001
Aica-Ribosiduria Due To Atic Deficiency
Secundum atrial septal defect OMIM:608688
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Recurrent lower respiratory tract infections, Patent ductus arteriosus, Atrial septal defect OMIM:618005
Monosomy 13Q34
Hematochezia, Epistaxis, Pulmonic stenosis, Common atrium ORPHA:96168
Intellectual Disability-Strabismus Syndrome
Patent ductus arteriosus, Atrial septal defect ORPHA:363528
Juvenile Polyposis Of Infancy
Hematochezia, Gastrointestinal hemorrhage, Intestinal bleeding, Abnormal heart morphology, Atrial... ORPHA:79076
Scleromyxedema
Abnormal pulmonary artery morphology, Abnormal coronary artery morphology, Transient ischemic att... ORPHA:167635
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Peripheral pulmonary artery stenosis, Valvular pulmonary stenosis, Patent foramen ovale, Bicuspid... OMIM:300707
Mckusick-Kaufman Syndrome
Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, Pat... ORPHA:2473
Hypothyroidism, Congenital, Nongoitrous, 5
Mitral regurgitation, Patent foramen ovale OMIM:225250
X-Linked Intellectual Disability, Nascimento Type
Peripheral pulmonary artery stenosis, Recurrent respiratory infections, Tetralogy of Fallot, Mitr... ORPHA:163956
Syndromic Diarrhea
Aortic regurgitation, Peripheral pulmonary artery stenosis, Abnormal heart morphology, Tetralogy ... ORPHA:84064
Fg Syndrome Type 1
Coarctation of aorta, Pulmonary arterial hypertension, Atrial septal defect, Mitral valve prolapse ORPHA:93932
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Hypertrophic cardiomyopathy, Secundum atrial septal defect OMIM:619121
Sotos Syndrome
Muscular ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Ventricular s... OMIM:117550
Coffin-Siris Syndrome 4
Mitral atresia, Ventricular septal defect, Atrial septal defect, Pulmonary artery atresia, Patent... OMIM:614609
Loeys-Dietz Syndrome 5
Aortic root aneurysm, Mitral regurgitation, Patent foramen ovale, Ventricular septal defect, Atri... OMIM:615582
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Partial anomalous pulmonary venous return, Atrial septal defect, Ventricular septal defect OMIM:301044
Tarp Syndrome
Tetralogy of Fallot, Atrial septal defect, Subdural hemorrhage OMIM:311900
Ellis Van Creveld Syndrome
Atrioventricular canal defect, Abnormal heart valve morphology, Emphysema, Situs inversus totalis... ORPHA:289
Mogs-Cdg
Cardiomegaly, Pulmonary edema, Left ventricular hypertrophy, Atrial septal defect ORPHA:79330
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Total anomalous pulmonary venous return, Atrial septal defect OMIM:609945
Koolen-De Vries Syndrome
Aortic root aneurysm, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Pat... OMIM:610443
Lipodystrophy, Familial Partial, Type 7
Spontaneous pneumothorax, Pleural effusion, Pulmonary arteriovenous malformation, Pulmonary arter... OMIM:606721
Basel-Vanagaite-Smirin-Yosef Syndrome
Recurrent pneumonia, Ventricular septal defect, Pulmonary arterial hypertension, Atrial septal de... ORPHA:464738
Mandibulofacial Dysostosis, Guion-Almeida Type
Atrial septal defect, Ventricular septal defect OMIM:610536
Fetal Alcohol Syndrome
Atrial septal defect ORPHA:1915
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Patent ductus arteriosus, Atrial septal defect ORPHA:397709
Pagod Syndrome
Hypoplastic left heart, Pulmonary artery hypoplasia, Situs inversus totalis, Abnormal aortic morp... ORPHA:991
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Atrial septal defect, Abnormal mitral valve morphology ORPHA:1292
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Aortic root aneurysm, Mitral valve prolapse, Patent foramen ovale, Cardiomegaly, Bicuspid aortic ... OMIM:245600
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Atrial septal defect, Ventricular septal defect OMIM:617360
Pseudo-Torch Syndrome 1
Patent ductus arteriosus, Patent foramen ovale OMIM:251290
Loeys-Dietz Syndrome 3
Ventricular hypertrophy, Tortuous cerebral arteries, Abdominal aortic aneurysm, Mitral regurgitat... OMIM:613795
Linear Skin Defects With Multiple Congenital Anomalies 1
Junctional ectopic tachycardia, Histiocytoid cardiomyopathy, Ventricular septal defect, Arrhythmi... OMIM:309801
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Aortic valve stenosis, Hypoplastic left heart, Pulmonary artery atresia, Mitral atresia, Ventricu... OMIM:618164
Wiedemann-Steiner Syndrome
Patent ductus arteriosus, Atrial septal defect OMIM:605130
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Tricuspid regurgitation, Pulmonary arterial hypertension, Atrial septal defect, Ventricular septa... OMIM:620663
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Abnormal heart morphology, Atrioventricular canal defect, Pleural effusion, Ventricular septal de... ORPHA:453499
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Patent ductus arteriosus, Atrial septal defect, Dextrocardia OMIM:277380
Ogden Syndrome
Peripheral pulmonary artery stenosis, Secundum atrial septal defect, Torsade de pointes, Prematur... OMIM:300855
Alzahrani-Kuwahara Syndrome
Coronary sinus enlargement, Patent foramen ovale, Ventricular septal defect, Pulmonary artery sli... OMIM:619268
Microcephaly 30, Primary, Autosomal Recessive
Secundum atrial septal defect OMIM:620183
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Patent ductus arteriosus,... OMIM:610759
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Absent pulmonary artery, Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Pa... OMIM:600460
Renal-Hepatic-Pancreatic Dysplasia 1
Aortic valve stenosis, Situs inversus totalis, Portal hypertension, Atrial septal defect, Patent ... OMIM:208540
Mucolipidosis Type Ii
Abnormal atrioventricular valve physiology, Aortic regurgitation, Cardiomyopathy, Mitral regurgit... ORPHA:576
Opitz Gbbb Syndrome
Aortic root aneurysm, Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect,... ORPHA:2745
Wolcott-Rallison Syndrome
Double outlet right ventricle, Atrial septal defect ORPHA:1667
Microcephaly 26, Primary, Autosomal Dominant
Recurrent pneumonia, Patent foramen ovale OMIM:619179
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Atrial septal defect ORPHA:93947
Chromosome 10Q26 Deletion Syndrome
Patent ductus arteriosus, Atrial septal defect OMIM:609625
White-Sutton Syndrome
Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale OMIM:616364
Hoxha-Aliu Syndrome
Perimembranous ventricular septal defect, Atrial septal defect OMIM:620662
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Interrupted aortic arch, Ventricular septal defect, Atrial septal defect, Heart murmur, Intracran... ORPHA:163979
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Hypoplastic left heart, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Coa... OMIM:618748
Osteogenesis Imperfecta, Type Vii
Absent pulmonary artery, Hypoplastic pulmonary veins OMIM:610682
Cutis Laxa, Autosomal Recessive, Type Iid
Congestive heart failure, Hypertrophic cardiomyopathy, Right bundle branch block, Pneumothorax, A... OMIM:617403
Congenital Disorder Of Glycosylation, Type Ig
Recurrent upper respiratory tract infections, Recurrent pneumonia, Patent ductus arteriosus, Pate... OMIM:607143
Distal 22Q11.2 Microdeletion Syndrome
Aortic regurgitation, Truncus arteriosus, Ventricular septal defect, Aortic aneurysm, Atrial sept... ORPHA:261330
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Coronary artery fistula, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect OMIM:620024
Cutis Laxa, Autosomal Recessive, Type Ic
Peripheral pulmonary artery stenosis, Recurrent pneumonia, Atelectasis, Emphysema, Patent foramen... OMIM:613177
Fanconi Anemia, Complementation Group F
Pneumonia, Patent ductus arteriosus, Atrial septal defect OMIM:603467
Diaphragmatic Hernia 4, With Cardiovascular Defects
Aortopulmonary collateral arteries, Pulmonary artery hypoplasia, Aortic root aneurysm, Ventricula... OMIM:620025
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Secundum atrial septal defect, Dilation of Virchow-Robin spaces OMIM:619951
Alg9-Cdg
Abnormal lung lobation, Tricuspid regurgitation, Abnormal heart morphology, Abnormal renal artery... ORPHA:79328
Genitopatellar Syndrome
Atrial septal defect, Pulmonary hypoplasia ORPHA:85201
Duodenal Atresia
Abnormality of the pulmonary artery ORPHA:1203
Congenital Tracheal Stenosis
Hypoplastic left heart, Abnormal lung morphology, Abnormal lung lobation, Anomalous origin of lef... ORPHA:141127
Focal Dermal Hypoplasia
Ventricular septal defect, Abnormality of the pulmonary vasculature, Telangiectasia of the skin, ... ORPHA:2092
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Peripheral pulmonary artery stenosis, Aortic root aneurysm, Patent foramen ovale, Patent ductus a... ORPHA:280633
Robinow Syndrome, Autosomal Dominant 3
Tricuspid regurgitation, Patent foramen ovale, Ventricular septal defect, Pulmonary artery atresi... OMIM:616894
Distal Deletion 10Q
Patent ductus arteriosus, Atrial septal defect ORPHA:96148
Meier-Gorlin Syndrome 7
Pulmonary hypoplasia, Second degree atrioventricular block, Complete atrioventricular canal defec... OMIM:617063
Trichorhinophalangeal Syndrome, Type Ii
Recurrent pneumonia, Recurrent upper respiratory tract infections, Internal carotid artery dissec... OMIM:150230
Lethal Kniest-Like Dysplasia
Atrial septal defect ORPHA:2347
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Patent ductus arteriosus, Double outlet right ventricle, Atrial septal defect, Pulmonic stenosis OMIM:618223
Oculoectodermal Syndrome
Hypertrophic cardiomyopathy, Transient ischemic attack, Coarctation of aorta, Atrial septal defec... OMIM:600268
Hamamy Syndrome
Atrial septal defect, Prolonged QRS complex, Complete atrioventricular canal defect, Mitral regur... OMIM:611174
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Recurrent upper respiratory tract infections, Medial calcification of large arteries, Congestive ... ORPHA:391487
Van Esch-O'Driscoll Syndrome
Pulmonary artery stenosis, Pulmonary valve atresia, Atrial septal defect, Ventricular septal defect OMIM:301030
Frank-Ter Haar Syndrome
Secundum atrial septal defect, Mitral valve prolapse, Ventricular septal defect, Patent foramen o... OMIM:249420
16P13.11 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:261236
Fanconi Anemia, Complementation Group N
Atrial septal defect, Ventricular septal defect OMIM:610832
Holt-Oram Syndrome
Atrioventricular dissociation, Mitral regurgitation, Mitral valve prolapse, Sinus bradycardia, Ve... OMIM:142900
8P11.2 Deletion Syndrome
Patent ductus arteriosus, Atrial septal defect, Mitral valve prolapse ORPHA:251066
Simpson-Golabi-Behmel Syndrome, Type 1
Total anomalous pulmonary venous return, Cardiomyopathy, Abnormal lung lobation, Ventricular sept... OMIM:312870
Cutis Laxa, Autosomal Recessive, Type Iic
Aortic regurgitation, Biventricular hypertrophy, Tricuspid regurgitation, Mitral valve prolapse, ... OMIM:617402
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Patent ductus arteriosus, Atrial septal defect, Recurrent respiratory infections OMIM:300968
Peroxisome Biogenesis Disorder 5A (Zellweger)
Aortic regurgitation, Tricuspid regurgitation, Mitral regurgitation, Ventricular septal defect, A... OMIM:614866
Noonan Syndrome
Abnormal EKG, Hypertrophic cardiomyopathy, Abnormal pulmonary valve morphology, Pulmonary artery ... ORPHA:648
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Abnormal lung lobation, Abnormal aortic morphology, Coarctation of aorta, S... ORPHA:1052
Vici Syndrome
Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Left ventricular hypertrophy, A... OMIM:242840
Ellis-Van Creveld Syndrome
Common atrium, Atrial septal defect OMIM:225500
Bohring-Opitz Syndrome
Atrial septal defect, Ventricular septal defect OMIM:605039
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Restrictive cardiomyopathy, Abnormal lung lobation, Abnormal heart morphology, Atrial septal defe... ORPHA:369837
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Patent foramen ova... OMIM:300967
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Atelectasis, Tricuspid regurgitation, Retinal arterial tortuosity, Patent foramen ovale, Cardiome... OMIM:620371
Craniofacioskeletal Syndrome
Interrupted aortic arch, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect OMIM:300712
Immunodeficiency 87 And Autoimmunity
Dilated cardiomyopathy, Third degree atrioventricular block, Biventricular hypertrophy, Atriovent... OMIM:619573
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Tricuspid regurgitation, Pulmonary hypoplasia, Atrial septal defect, Ventricular septal defect OMIM:263520
Marshall-Smith Syndrome
Recurrent upper respiratory tract infections, Aspiration pneumonia, Ventricular septal defect, Pr... OMIM:602535
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Patent ductus arteriosus, Atrial septal defect, Pulmonary hypoplasia OMIM:614080
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Atrial septal defect OMIM:614207
Spondyloepimetaphyseal Dysplasia, Krakow Type
Patent ductus arteriosus, Atrial septal defect OMIM:618162
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Atrial septal defect ORPHA:457351
Cardiofaciocutaneous Syndrome
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Atrial septal defect, Pulmonic sten... ORPHA:1340
Duane-Radial Ray Syndrome
Vascular dilatation, Atrial septal defect, Ventricular septal defect OMIM:607323
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Atrial septal defect OMIM:207410
Kaufman Oculocerebrofacial Syndrome
Coarctation of aorta, Atrial septal defect, Ventricular septal defect OMIM:244450
Neurocardiofaciodigital Syndrome
Tetralogy of Fallot, Double inlet left ventricle, Atrial septal defect, Patent ductus arteriosus OMIM:619869
Loeys-Dietz Syndrome 1
Descending thoracic aorta aneurysm, Pulmonary artery aneurysm, Aortic root aneurysm, Arterial tor... OMIM:609192
Viss Syndrome
Iliac artery aneurysm, Aortic root aneurysm, Tortuous cerebral arteries, Mitral valve prolapse, V... OMIM:619472
Coffin-Siris Syndrome
Recurrent upper respiratory tract infections, Aspiration pneumonia, Abnormal heart morphology, Te... ORPHA:1465
Tarp Syndrome
Tetralogy of Fallot, Persistent left superior vena cava, Atrial septal defect, Pulmonary hypoplasia ORPHA:2886
22Q11.2 Deletion Syndrome
Hypertensive crisis, Gastrointestinal hemorrhage, Abnormal aortic arch morphology, Atelectasis, A... ORPHA:567
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Tricuspid regurgitation, Abnormal left ventricle morphology, Patent foramen ovale, Ventricular se... ORPHA:466791
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Aortic regurgitation, Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal defec... OMIM:607721
Cardiofaciocutaneous Syndrome 1
Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis OMIM:115150
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Portal hypertension, Patent foramen ovale, Pulmonary arterial hypertension, Atrial septal defect,... OMIM:620005
3Mc Syndrome 1
Conjunctival telangiectasia, Patent ductus arteriosus, Atrial septal defect, Ventricular septal d... OMIM:257920
Ramos-Arroyo Syndrome
Patent ductus arteriosus, Atrial septal defect ORPHA:1051
Mosaic Variegated Aneuploidy Syndrome 1
Atrial septal defect, Pulmonic stenosis OMIM:257300
Keutel Syndrome
Peripheral pulmonary artery stenosis, Pulmonary artery hypoplasia, Emphysema, Recurrent bronchiti... OMIM:245150
7Q11.23 Microduplication Syndrome
Aortic valve stenosis, Ventricular septal defect, Aortic aneurysm, Atrial septal defect, Patent d... ORPHA:96121
Mayer-Rokitansky-Küster-Hauser Syndrome
Atrial septal defect, Pulmonic stenosis ORPHA:3109
Developmental Delay With Or Without Dysmorphic Facies And Autism
Patent foramen ovale, Ventricular septal defect, Coarctation of aorta, Pulmonary arterial hyperte... OMIM:618454
Autosomal Recessive Robinow Syndrome
Tetralogy of Fallot, Abnormal pulmonary valve morphology, Abnormal tricuspid valve morphology, Ab... ORPHA:1507
Combined Oxidative Phosphorylation Deficiency 3
Dilated cardiomyopathy, Patent ductus arteriosus, Patent foramen ovale, Concentric hypertrophic c... OMIM:610505
Specc1L-Related Hypertelorism Syndrome
Tetralogy of Fallot, Ventricular septal defect, Arrhythmia, Atrial septal defect, Patent ductus a... ORPHA:1519
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect OMIM:620558
Spondylodysplastic Ehlers-Danlos Syndrome
Aortic valve stenosis, Abnormal heart valve morphology, Prominent scalp veins, Atrial septal defe... ORPHA:536471
21Q22.11Q22.12 Microdeletion Syndrome
Atrial septal defect ORPHA:261323
Codas Syndrome
Atrioventricular canal defect, Atrial septal defect, Ventricular septal defect OMIM:600373
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Aortic root aneurysm, Atrial septal defect OMIM:618891
Rabson-Mendenhall Syndrome
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:769
Magel2-Related Prader-Willi-Like Syndrome
Recurrent respiratory infections, Atrial septal defect ORPHA:398069
Robinow Syndrome
Abnormal heart morphology, Ventricular septal defect, Coarctation of aorta, Pulmonary valve atres... ORPHA:97360
Diamond-Blackfan Anemia 21
Aortic regurgitation, Secundum atrial septal defect OMIM:620072
Myhre Syndrome
Aortic valve stenosis, Ventricular septal defect, Coarctation of aorta, Atrial septal defect, Per... OMIM:139210
Alagille Syndrome 1
Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Renal artery stenosis, Ventricular sep... OMIM:118450
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Aortic valve stenosis, Pneumonia, Vascular ring, Abnormal heart morphology, Cardiac conduction ab... ORPHA:353281
Khan-Khan-Katsanis Syndrome
Tricuspid regurgitation, Bilateral superior vena cava with no bridging vein, Patent ductus arteri... OMIM:618460
Fontaine Progeroid Syndrome
Tricuspid regurgitation, Abnormal heart morphology, Bicuspid aortic valve, Left ventricular hyper... OMIM:612289
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Atrial septal defect, Pulmonary hypoplasia OMIM:616546
Biliary, Renal, Neurologic, And Skeletal Syndrome
Unbalanced atrioventricular canal defect, Ventricular septal defect, Dextrocardia, Recurrent lowe... OMIM:619534
2Q31.1 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:251014
Jacobsen Syndrome
Recurrent respiratory infections, Atrial septal defect, Ventricular septal defect OMIM:147791
Cardiospondylocarpofacial Syndrome
Muscular ventricular septal defect, Mitral regurgitation, Patent foramen ovale, Dysplastic tricus... OMIM:157800
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Interrupted aortic arch, Hypertrophic cardiomyopathy, Patent foramen ovale, Coarctation of aorta,... ORPHA:17
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Heart murmur, Arteria lusoria, Patent foramen ovale OMIM:618653
Holoprosencephaly 13, X-Linked
Hypoplastic left heart, Patent foramen ovale, Ventricular septal defect, Double outlet right vent... OMIM:301043
Cranioectodermal Dysplasia 2
Recurrent pneumonia, Patent foramen ovale, Left ventricular hypertrophy, Atrial septal defect, Hy... OMIM:613610
Short-Rib Thoracic Dysplasia 12
Atelectasis, Patent foramen ovale, Ventricular septal defect, Patent ductus arteriosus, Pulmonary... OMIM:269860
Distal Deletion 6P
Atrial septal defect ORPHA:96125
Omodysplasia 1
Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect OMIM:258315
Fanconi Anemia
Arteriovenous malformation, Hypertrophic cardiomyopathy, Tetralogy of Fallot, Abnormal aortic mor... ORPHA:84
Spondyloocular Syndrome
Atrial septal defect, Mitral valve prolapse, Dysplastic aortic valve OMIM:605822
Williams Syndrome
Mitral regurgitation, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, Ov... ORPHA:904
Ring Chromosome 12 Syndrome
Secundum atrial septal defect ORPHA:1439
Koolen-De Vries Syndrome Due To A Point Mutation
Cardiomyopathy, Abnormal heart morphology, Ventricular septal defect, Bicuspid aortic valve, Intr... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Cardiomyopathy, Abnormal heart morphology, Ventricular septal defect, Bicuspid aortic valve, Intr... ORPHA:363958
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Recurrent respira... ORPHA:3047
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Aortic regurgitation, Tricuspid regurgitation, Mitral regurgitation, Mitral valve prolapse, Tricu... OMIM:601776
Helsmoortel-Van Der Aa Syndrome
Abnormal heart morphology, Mitral regurgitation, Mitral valve prolapse, Atrial septal defect, Hea... OMIM:615873
Rubinstein-Taybi Syndrome 1
Hypoplastic left heart, Recurrent upper respiratory tract infections, Aortic isthmus hypoplasia, ... OMIM:180849
Larsen Syndrome
Aortic aneurysm, Atrial septal defect, Ventricular septal defect OMIM:150250
Diamond-Blackfan Anemia 1
Congestive heart failure, Ventricular septal defect, Coarctation of aorta, Atrial septal defect, ... OMIM:105650
Costello Syndrome
Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal defect, Arrhythmia, Pneumo... OMIM:218040
Trisomy 18
Atrial septal defect, Ventricular septal defect ORPHA:3380
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Abnormal heart morphology, Ventricular septal defect, Bicuspid aortic valve, Aortic aneurysm, Atr... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Abnormal heart morphology, Ventricular septal defect, Bicuspid aortic valve, Aortic aneurysm, Atr... ORPHA:352665
Oculodentodigital Dysplasia
Arrhythmia, Atrial septal defect OMIM:164200
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Patent ductus arteriosus, Atrial septal defect, Recurrent sinusitis OMIM:213980
Osteopathia Striata With Cranial Sclerosis
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect OMIM:300373
Turnpenny-Fry Syndrome
Aortic regurgitation, Carotid artery tortuosity, Mitral valve prolapse, Tricuspid valve prolapse,... OMIM:618371
Bardet-Biedl Syndrome 20
Atrial septal defect OMIM:619471
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Patent foramen ovale, Pulmonary arterial hypertension, Atrial septal defect, Recurrent respirator... OMIM:620186
Thrombocytopenia-Absent Radius Syndrome
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Coarctation of aor... OMIM:274000
Degcags Syndrome
Pneumonia, Patent foramen ovale, Ventricular septal defect, Persistent left superior vena cava, D... OMIM:619488
Arboleda-Tham Syndrome
Recurrent aspiration pneumonia, Secundum atrial septal defect, Ventricular septal defect, Atrial ... OMIM:616268
Wolf-Hirschhorn Syndrome
Abnormal heart valve morphology, Atrial septal defect, Abnormal cardiac septum morphology, Aplasi... ORPHA:280
Ctcf-Related Neurodevelopmental Disorder
Pulmonary hemorrhage, Mitral regurgitation, Coarctation of aorta, Pulmonary arterial hypertension... ORPHA:363611
Microphthalmia, Syndromic 2
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Double outlet right vent... OMIM:300166
Microgastria-Limb Reduction Defect Syndrome
Abnormal lung lobation, Atrial septal defect, Truncus arteriosus ORPHA:2538
Zttk Syndrome
Aortic regurgitation, Ventricular septal defect, Unilateral lung agenesis, Atrial septal defect, ... OMIM:617140
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Dilation of Virchow-Robin spaces, Atrial septal defect OMIM:619512
Pauci-Immune Glomerulonephritis
Abnormality of the pulmonary vasculature, Pulmonary hemorrhage, Arteritis, Small vessel vasculitis ORPHA:93126
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Aortic regurgitation, Muscular ventricular septal defect, Truncus arteriosus, Bicuspid aortic val... OMIM:612474
Smith-Lemli-Opitz Syndrome
Abnormal lung lobation, Atrioventricular canal defect, Ventricular septal defect, Atrial septal d... ORPHA:818
Diamond-Blackfan Anemia
Abnormal heart morphology, Radial artery aplasia, Ventricular septal defect, Coarctation of aorta... ORPHA:124
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Aortic valve stenosis, Pneumonia, Vascular ring, Abnormal heart morphology, Cardiac conduction ab... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Aortic valve stenosis, Pneumonia, Vascular ring, Abnormal heart morphology, Cardiac conduction ab... ORPHA:353277
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Aortic root aneurysm, Congestive heart failure, Abnormal heart morphology, Aspiration pneumonia, ... ORPHA:444077
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Anomalous origin of left subclavian artery, Aspiration pneumonia, Abnormal heart morphology, Pate... ORPHA:438213
Liver Disease, Severe Congenital
Pneumonia, Dilatation of the ventricular cavity, Patent foramen ovale, Ventricular septal defect,... OMIM:619991
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Bicuspid aortic valve, Pulmonary arterial hypertension, Secundum atrial septal defect, Patent duc... OMIM:613355
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Pulmonary artery stenosis, Dilatation of the ventricular cavity, Atrial septal defect, Ventricula... ORPHA:459070
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Hypertrophic cardiomyopathy, Abnormal heart morphology, Mitral regurgitation, Mitral valve prolap... ORPHA:363700
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Atrial septal defect ORPHA:522077
Smith-Lemli-Opitz Syndrome
Abnormal lung lobation, Hypertrophic cardiomyopathy, Ventricular septal defect, Coarctation of ao... OMIM:270400
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Bicuspid aortic valve, Atrial septal defect, Mitral regurgitation, Ventricular septal defect OMIM:271640
Noonan Syndrome 1
Chylothorax, Hypertrophic cardiomyopathy, Ventricular septal defect, Coarctation of aorta, Atrial... OMIM:163950
Fryns Syndrome
Pulmonary hypoplasia, Chylothorax, Atrial septal defect, Ventricular septal defect OMIM:229850
Yunis-Varon Syndrome
Cardiomyopathy, Tetralogy of Fallot, Renal artery stenosis, Ventricular septal defect, Cardiomega... ORPHA:3472
Bent Bone Dysplasia Syndrome 2
Atrial septal defect OMIM:620076
Frontometaphyseal Dysplasia 2
Bicuspid aortic valve, Patent foramen ovale, Patent ductus arteriosus, Pulmonic stenosis OMIM:617137
Turner Syndrome Due To Structural X Chromosome Anomalies
Hypoplastic left heart, Arterial dissection, Aortic dissection, Aortic arch aneurysm, Gastrointes... ORPHA:99413
Turner Syndrome
Hypoplastic left heart, Arterial dissection, Aortic dissection, Aortic arch aneurysm, Gastrointes... ORPHA:881
Mosaic Monosomy X
Hypoplastic left heart, Arterial dissection, Aortic dissection, Aortic arch aneurysm, Gastrointes... ORPHA:99228
Monosomy X
Hypoplastic left heart, Arterial dissection, Aortic dissection, Aortic arch aneurysm, Gastrointes... ORPHA:99226
Penile Agenesis
Pulmonary hypoplasia, Bilateral lung agenesis, Atrial septal defect, Ventricular septal defect ORPHA:49
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Chylothorax, Pleural effusion, Atrial septal defect ORPHA:2526
Chromosome 16P13.3 Duplication Syndrome
Tetralogy of Fallot, Atrial septal defect, Ventricular septal defect OMIM:613458
Simpson-Golabi-Behmel Syndrome
Cardiomyopathy, Bundle branch block, Ventricular septal defect, Atrial septal defect, Prolonged Q... ORPHA:373
Chromosome 1P36 Deletion Syndrome, Distal
Dilated cardiomyopathy, Aortic root aneurysm, Abnormal lung lobation, Tetralogy of Fallot, Patent... OMIM:607872
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Abnormal aortic arch morphology, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonar... ORPHA:96334
Williams-Beuren Syndrome
Peripheral pulmonary artery stenosis, Myxomatous mitral valve degeneration, Coronary artery steno... OMIM:194050
Neurooculorenal Syndrome
Tetralogy of Fallot with pulmonary stenosis, Patent foramen ovale, Mitral valve prolapse, Dextroc... OMIM:620305
Mowat-Wilson Syndrome
Abnormal heart morphology, Ventricular septal defect, Pulmonary artery sling, Pulmonary artery st... OMIM:235730
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Tetralogy of Fallot, Muscular ventricular septal defect, Patent foramen ovale, Ventricular septal... OMIM:210710
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Patent ductus arteriosus, Atrial septal defect OMIM:300868
Cerebrocostomandibular Syndrome
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect OMIM:117650
Renpenning Syndrome 1
Tetralogy of Fallot, Situs inversus totalis, Atrial septal defect, Ventricular septal defect OMIM:309500
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Arrhythmia, Atrial septal defect OMIM:250220
Charge Syndrome
Secundum atrial septal defect, Tetralogy of Fallot, Right aortic arch, Ventricular septal defect,... OMIM:214800
Carpenter Syndrome 2
Tricuspid regurgitation, Situs inversus totalis, Transposition of the great arteries, Atrial sept... OMIM:614976
Restrictive Dermopathy
Pulmonary hypoplasia, Transposition of the great arteries, Atrial septal defect, Dextrocardia, Pa... ORPHA:1662
Tetrasomy 9P
Pulmonary hypoplasia, Juxtaductal coarctation of the aorta, Abnormal mitral valve morphology, Pat... ORPHA:3310
Limb Body Wall Complex
Abnormal heart morphology, Atrial septal defect, Ectopia cordis, Ventricular septal defect ORPHA:2369
Mandibuloacral Dysplasia Progeroid Syndrome
Tricuspid regurgitation, Mitral regurgitation, Patent foramen ovale, Left ventricular hypertrophy... OMIM:619127
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Abnormal heart morphology, Emphysema, Transient ischemic attack, Ischemic stroke, Abnormal common... ORPHA:500150
Neurofibromatosis-Noonan Syndrome
Secundum atrial septal defect, Pulmonic stenosis OMIM:601321
Floating-Harbor Syndrome
Mesocardia, Coarctation of aorta, Atrial septal defect, Persistent left superior vena cava OMIM:136140
Pancreatic And Cerebellar Agenesis
Secundum atrial septal defect OMIM:609069
Acrofacial Dysostosis, Cincinnati Type
Pulmonary artery aneurysm, Biventricular hypertrophy, Partial atrioventricular canal defect, Pate... OMIM:616462
Floating-Harbor Syndrome
Tetralogy of Fallot, Mesocardia, Persistent left superior vena cava, Coarctation of aorta, Atrial... ORPHA:2044
Congenital Disorder Of Glycosylation, Type Iim
Hypertension, Atrial septal defect OMIM:300896
Schinzel-Giedion Midface Retraction Syndrome
Atrial septal defect OMIM:269150
Kabuki Syndrome 1
Recurrent aspiration pneumonia, Coarctation of aorta, Atrial septal defect, Ventricular septal de... OMIM:147920
Diphallia
Abnormal heart morphology, Atrial septal defect ORPHA:227
Restrictive Dermopathy 1
Patent ductus arteriosus, Atrial septal defect, Pulmonary hypoplasia OMIM:275210
Orofaciodigital Syndrome Xiv
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect OMIM:615948
Coffin-Siris Syndrome 1
Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, Recurrent respiratory infec... OMIM:135900
Poland Syndrome
Atrial septal defect, Dextrocardia ORPHA:2911
Faciocardiomelic Syndrome
Common atrium OMIM:612731
Chromosome 13Q14 Deletion Syndrome
Patent foramen ovale, Ventricular septal defect OMIM:613884
Neu-Laxova Syndrome 1
Patent foramen ovale, Ventricular septal defect, Transposition of the great arteries, Patent duct... OMIM:256520
Pallister-Hall Syndrome
Abnormal lung lobation, Atrioventricular canal defect, Ventricular septal defect, Coarctation of ... ORPHA:672
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Patent ductus arteriosus, Atrial septal defect, Cardiomyopathy, Recurrent upper and lower respira... ORPHA:480880
Genitopatellar Syndrome
Pulmonary hypoplasia, Atrial septal defect, Ventricular septal defect OMIM:606170
Townes-Brocks Syndrome
Tetralogy of Fallot, Abnormal pulmonary valve morphology, Atrial septal defect, Abnormal cardiac ... ORPHA:857
Wolf-Hirschhorn Syndrome
Atrial septal defect, Ventricular septal defect OMIM:194190
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect OMIM:619522
Cornelia De Lange Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:199
Peters-Plus Syndrome
Patent ductus arteriosus, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect OMIM:261540
Johanson-Blizzard Syndrome
Dilated cardiomyopathy, Portal hypertension, Situs inversus totalis, Ventricular septal defect, A... OMIM:243800
Sotos Syndrome
Small cell lung carcinoma, Abnormal heart morphology, Ventricular septal defect, Aortic aneurysm,... ORPHA:821
Townes-Brocks Syndrome 1
Tetralogy of Fallot, Atrial septal defect, Ventricular septal defect OMIM:107480
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Atrial septal defect, Recurrent upper respiratory tract infections, Hypertension, Corneal neovasc... OMIM:308205
Otopalatodigital Syndrome, Type Ii
Dilatation of the sinus of Valsalva, Atrial septal defect OMIM:304120
Tetraamelia Syndrome 1
Peripheral pulmonary vessel aplasia, Pulmonary hypoplasia OMIM:273395
Roberts-Sc Phocomelia Syndrome
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect OMIM:268300
Pallister-Killian Syndrome
Aortic valve stenosis, Hypertrophic cardiomyopathy, Ventricular septal defect, Coarctation of aor... OMIM:601803
Hirschsprung Disease
ORPHA:388

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 Sema3d

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 Sema3d.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Subepicardial endothelial cells invade the embryonic ventricle wall to form coronary arteries. Cell research (June 2013) Sema3dtm1a(KOMP)Bz PMC3760626

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Sema3dtm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Sema3dtm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Tissue

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