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Gene: Tab1 MGI:1913763

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
TGF-beta activated kinase 1/MAP3K7 binding protein 1
Synonyms:
Map3k7ip1,  Tak1-binding protein 1,  b2b449Clo,  2310012M03Rik

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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 Tab1 mutations

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

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

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

The table below shows human diseases predicted to be associated to Tab1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot, Pulmonic stenosis OMIM:601127
Cayler Cardiofacial Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus OMIM:125520
Autosomal Dominant Coarctation Of Aorta
Abnormal aortic arch morphology, Aortic arch aneurysm, Patent ductus arteriosus, Ventricular sept... ORPHA:1455
Cleft-Limb-Heart Malformation Syndrome
Truncus arteriosus OMIM:215850
Conotruncal Heart Malformations
Transposition of the great arteries, Truncus arteriosus, Coarctation of aorta, Double outlet righ... OMIM:217095
Congenital Heart Defects, Multiple Types, 4
Atrioventricular canal defect, Aortic valve stenosis, Coarctation of aorta, Tetralogy of Fallot, ... OMIM:615779
Coarctation Of Aorta
Coarctation of aorta, Hypoplastic left heart OMIM:120000
Congenital Heart Defects, Multiple Types, 5
Bicuspid aortic valve, Aortic valve stenosis, Tetralogy of Fallot, Double outlet right ventricle,... OMIM:617912
Atrioventricular Septal Defect, Susceptibility To, 2
Right aortic arch with mirror image branching, Atrioventricular canal defect, Pulmonary artery at... OMIM:606217
Ventricular Septal Defect 1
Atrioventricular canal defect, Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Vent... OMIM:614429
Congenital Heart Defects, Multiple Types, 6
Transposition of the great arteries, Hypoplastic pulmonary veins, Right aortic arch, Pulmonary ar... OMIM:613854
Genitopalatocardiac Syndrome
Double outlet right ventricle, Right aortic arch, Transposition of the great arteries, Ventricula... OMIM:231060
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Tricuspid Atresia
Hypoplasia of right ventricle, Transposition of the great arteries, Tricuspid atresia, Patent for... ORPHA:1209
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia OMIM:178370
Congenital Heart Defects, Multiple Types, 7
Right aortic arch, Absence of the pulmonary valve, Pulmonary artery atresia, Double aortic arch, ... OMIM:618780
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve, Pseudocoarctation of the aorta, Patent ductus arteriosus ORPHA:228190
Heterotaxy, Visceral, 6, Autosomal
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Right aortic arch, Tot... OMIM:614779
Congenital Heart Defects, Multiple Types, 9
Arteria lusoria, Transposition of the great arteries, Single ventricle of indeterminate morpholog... OMIM:620294
Congenitally Uncorrected Transposition Of The Great Arteries
Biventricular hypertrophy, Abnormal ventriculoarterial connection, Abnormal aortic arch morpholog... ORPHA:860
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Coarctation of aorta, Hypoplastic left heart OMIM:241550
Heterotaxy, Visceral, 8, Autosomal
Congenitally corrected transposition of the great arteries with ventricular septal defect, Dextro... OMIM:617205
Heterotaxy, Visceral, 7, Autosomal
Hypoplasia of right ventricle, Situs inversus totalis, Transposition of the great arteries, Abnor... OMIM:616749
Atrial Septal Defect 4
Atrial septal defect, Coarctation of aorta, Patent foramen ovale OMIM:611363
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Bicuspid aortic valve, Pseudocoarctation of the aorta, Patent ductus arteriosus OMIM:604381
Hypoplastic Left Heart Syndrome
Patent ductus arteriosus, Hypoplastic aortic arch, Mitral stenosis, Mitral atresia, Atrial septal... ORPHA:2248
Aneurysm Of Interventricular Septum
Abnormal ventricular septum morphology, Vascular dilatation OMIM:105805
Heterotaxy, Visceral, 4, Autosomal
Transposition of the great arteries, Atrioventricular canal defect, Dextrocardia, Right aortic ar... OMIM:613751
Cardiomyopathy, Dilated, 1R
Congestive heart failure, Restrictive cardiomyopathy, Cardiomyocyte hypertrophy, Ventricular arrh... OMIM:613424
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Vascular ring, Patent ductus arteriosus, Overriding aorta, Atrial septal defect, Ventricular sept... OMIM:601927
Aortic Aneurysm, Familial Thoracic 7
Aortic rupture, Ascending aortic dissection, Descending aortic dissection, Aortic aneurysm OMIM:613780
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Whim Syndrome 2
Tetralogy of Fallot OMIM:619407
Aorto-Ventricular Tunnel
Aortic root aneurysm, Abnormal heart valve morphology, Ventricular hypertrophy, Abnormal aortic m... ORPHA:3400
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Ventricular septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot OMIM:617992
Aortic Valve Disease 1
Bicuspid aortic valve, Aortic valve calcification, Aortic valve stenosis, Mitral stenosis, Tetral... OMIM:109730
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Ventricular septal defect OMIM:601355
Aorta Coarctation
Bicuspid aortic valve, Perimembranous ventricular septal defect, Cardiomegaly, Hypoplastic aortic... ORPHA:1457
Congenital Heart Block
Peripheral edema, Congestive heart failure, Hydrops fetalis, Bradycardia, Prolonged QTc interval,... ORPHA:60041
Ventricular Septal Defect 3
Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:614432
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Left Ventricular Noncompaction 1
Congestive heart failure, Patent ductus arteriosus, Palpitations, Atrial fibrillation, Noncompact... OMIM:604169
Cardiac Septal Defects With Coarctation Of The Aorta
Coarctation of aorta, Secundum atrial septal defect, Perimembranous ventricular septal defect OMIM:212090
Distal Duplication 14Q
Abnormal aortic morphology, Patent ductus arteriosus ORPHA:1705
Chromosome 22Q11.2 Deletion Syndrome, Distal
Truncus arteriosus OMIM:611867
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmonary artery, Patent... OMIM:618845
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Interrupted aortic arch, Right aortic arch, Truncus arteriosus, Tetralogy of F... OMIM:617478
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Heterotaxy, Visceral, 12, Autosomal
Pulmonic stenosis, Discordant atrioventricular connection, Patent foramen ovale, Common atrium, P... OMIM:619702
Boomerang Dysplasia
Abnormal bone ossification, Abnormal femur morphology, Abnormal tibia morphology, Abnormal metaca... ORPHA:1263
Aortic Aneurysm, Familial Thoracic 8
Coronary artery dissection, Ascending aortic dissection, Descending aortic dissection, Coronary a... OMIM:615436
Indomethacin Embryofetopathy
Hydrops fetalis, Cardiomyopathy, Premature birth, Atrial septal defect, Ventricular septal defect... ORPHA:1909
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Congestive heart failure, Endocardial fibrosis, Left bundle branch block, Ventricular arrhythmia,... OMIM:601493
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Ventricular septal defect, Truncus arteriosus, Abnormal aortic morphology ORPHA:2516
Klippel-Trénaunay Syndrome
Congestive heart failure, Gastrointestinal hemorrhage, Hydrops fetalis, Abnormal tricuspid valve ... ORPHA:90308
Ciliary Dyskinesia, Primary, 40
Situs inversus totalis, Atrioventricular canal defect, Right aortic arch, Congenitally corrected ... OMIM:618300
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Reduced left ventricular ejection fraction, Cardiogenic shock, Dilated ... OMIM:613642
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Pulmonic stenosis, Tetralogy of Fallot, Patent ductus arteriosus, Persistent left superior vena c... ORPHA:3304
16P13.11 Microduplication Syndrome
Transposition of the great arteries, Coarctation of aorta, Tetralogy of Fallot, Atrial septal def... ORPHA:261243
Scimitar Syndrome
Mitral atresia, Abnormal heart morphology, Interrupted inferior vena cava with azygous continuati... ORPHA:185
Left Ventricular Noncompaction 10
Congestive heart failure, Pulmonary arterial hypertension, Syncope, Increased left ventricular en... OMIM:615396
Truncus Arteriosus
Pulmonic stenosis, Abnormal heart morphology, Cardiomegaly, Transposition of the great arteries, ... ORPHA:3384
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Endocardial fibrosis, Atrial fibrillation, Supraventricular tachycardia, Cardiac arrest, Hypertro... OMIM:612158
Congenital Heart Defects, Multiple Types, 2
Myxomatous mitral valve degeneration, Aortic aneurysm, Aortic valve stenosis, Tetralogy of Fallot... OMIM:614980
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Overriding aorta, Arteriovenous malformation, Abnormal aortic arch morphology ORPHA:1110
14Q24.1Q24.3 Microdeletion Syndrome
Truncus arteriosus, Pulmonary artery atresia, Abnormal heart morphology, Atrial septal defect, Ve... ORPHA:401935
Moyamoya Disease 5
Moyamoya phenomenon, Ascending tubular aorta aneurysm OMIM:614042
22Q11.2 Duplication Syndrome
Transposition of the great arteries, Interrupted aortic arch, Tetralogy of Fallot, Ventricular se... ORPHA:1727
Left Ventricular Noncompaction 8
Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Dilated cardiomyopat... OMIM:615373
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Fetal Parvovirus Syndrome
Hydrops fetalis, Ascites, Hypertrophic cardiomyopathy, Increased nuchal translucency ORPHA:295
Chondrodysplasia, Blomstrand Type
Stillbirth, Hydrops fetalis, Polyhydramnios, Flared metaphysis, Generalized osteosclerosis, Short... OMIM:215045
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Arteria lusoria, Anomalous origin of left pulmonary artery from ascending aorta, Transposition of... ORPHA:99050
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Bicuspid aortic valve, Aortic aneurysm, Patent foramen ovale, Abnormal heart morphology, Persiste... ORPHA:477817
Atrial Standstill
Bradycardia, Cardiomyopathy, Abnormal heart morphology, Mobitz I atrioventricular block, Ventricu... ORPHA:1344
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Single umbilical artery, Hydrops fetalis, Polyhydramnios, Flared metaphysis, Short ri... OMIM:616897
Aortic Aneurysm, Familial Thoracic 6
Moyamoya phenomenon, Premature coronary artery atherosclerosis, Aortic aneurysm, Ascending tubula... OMIM:611788
Fibromuscular Dysplasia, Arterial
Aortic dissection, Stroke, Arterial fibromuscular dysplasia OMIM:135580
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Polyhydramnios, Hydrops fetalis, Abnormal cortical bone morphology, Increased bone mineral densit... ORPHA:2204
Right Pulmonary Artery, Anomalous Origin Of, Familial
Anomalous origin of right pulmonary artery from ascending aorta, Patent foramen ovale, Coarctatio... OMIM:610338
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Transient isc... ORPHA:1330
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Ascending aortic dissection, Descending aortic dissection, Aortic aneurysm OMIM:617349
Mitochondrial Complex I Deficiency, Nuclear Type 35
Cardiomyopathy, Pulmonary arterial hypertension, Neonatal death, Pulmonary hypoplasia, Nonimmune ... OMIM:619003
Double Outlet Right Ventricle
Truncus arteriosus, Pulmonary artery atresia, Pulmonic stenosis, Coarctation of aorta, Tetralogy ... ORPHA:3426
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Patent ductus arteriosus, Bicuspid aortic valve, A... OMIM:618719
Ciliary Dyskinesia, Primary, 52
Situs inversus totalis, Transposition of the great arteries, Patent foramen ovale, Ventricular se... OMIM:620570
Cardiomyopathy, Familial Hypertrophic, 27
Congestive heart failure, Ventricular septal hypertrophy, Prolonged QT interval, Concentric hyper... OMIM:618052
Aortic Aneurysm, Familial Abdominal, 1
Abdominal aortic aneurysm OMIM:100070
Congenital Myopathy 1B, Autosomal Recessive
Muscular dystrophy, Hydrops fetalis, Type 1 and type 2 muscle fiber minicore regions, Polyhydramn... OMIM:255320
Transaldolase Deficiency
Hydrops fetalis, Coarctation of aorta, Edema, Atrial septal defect, Biventricular hypertrophy, Te... ORPHA:101028
Adams-Oliver Syndrome 6
Truncus arteriosus, Ventricular septal defect OMIM:616589
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Hydrops fetalis, Polyhydramnios, Upper limb undergrowth, Nonimmune hydrops fetalis, Pulmonary hyp... OMIM:613124
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hydrops fetalis, Bradycardia, Hypertrophic cardiomyopathy, Flexion contracture, Dilated cardiomyo... OMIM:618815
Aortic Aneurysm, Familial Thoracic 4
Bicuspid aortic valve, Coronary artery atherosclerosis, Stroke, Ascending tubular aorta aneurysm,... OMIM:132900
Aortic Valve Disease 3
Aortic root aneurysm, Aortic valve stenosis, Ascending aortic dissection, Bicuspid aortic valve, ... OMIM:618496
Cardiomyopathy, Dilated, 1S
Congestive heart failure, Perimembranous ventricular septal defect, Single umbilical artery, Redu... OMIM:613426
Familial Aortic Dissection
Mucoid extracellular matrix accumulation, Patent ductus arteriosus, Descending thoracic aorta ane... ORPHA:229
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Hydrops fetalis, Chylopericardium, Pleural effusion, Ascites, Pulmonary... ORPHA:2414
Atrial Septal Defect 2
Atrioventricular canal defect, Dextrocardia, Pulmonic stenosis, Patent ductus arteriosus, Atrial ... OMIM:607941
Infantile Sialic Acid Storage Disease
Osteopenia, Congestive heart failure, Hydrops fetalis, Ascites, Premature birth, Metaphyseal irre... OMIM:269920
Lethal Congenital Contracture Syndrome 10
Adducted thumb, Hydrops fetalis, Stiff neck, Torticollis, Fetal akinesia sequence, Femoral bowing... OMIM:617022
Congenital Disorder Of Glycosylation, Type Ik
Cardiomyopathy, Abnormality of the amniotic fluid, Joint contracture, Nonimmune hydrops fetalis, ... OMIM:608540
Hydrops Fetalis
Polyhydramnios, Capillary leak, Lymphedema, Pleural effusion, Ascites, Twin-to-twin transfusion, ... ORPHA:1041
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Overriding aorta, Ventricular septal defect, Patent ductus arteriosus OMIM:617021
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Abnormal cardiac septum morphology, Coarctation of aorta, Patent ductus arteriosus OMIM:601612
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema, Elevated pulmonary artery pressure OMIM:178400
Mulibrey Nanism
Congestive heart failure, Hydrops fetalis, Recurrent lower respiratory tract infections, Ascites,... OMIM:253250
Mesoaxial Hexadactyly And Cardiac Malformation
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:249670
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Single umbilical artery, Polyhydramnios, Abnormal tricuspid valve morphology, Hydrops fetalis, Ab... ORPHA:3405
Neuraminidase Deficiency
Hydrops fetalis, Epiphyseal stippling, Bone-marrow foam cells, Cardiomyopathy, Ascites, Cherry re... OMIM:256550
Cardiomyopathy, Familial Restrictive, 6
Pulmonary insufficiency, Hydrops fetalis, Restrictive cardiomyopathy, Ascites, Tricuspid regurgit... OMIM:619433
Holt-Oram Syndrome
Broad thumb, Joint stiffness, Absent thumb, Abnormal metacarpal morphology, Patent ductus arterio... ORPHA:392
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Pulmonary artery atresia, Secundum atrial septal defect, Tetralogy of Fallot, Left ventricular hy... OMIM:108900
Grange Syndrome
Ventricular septal defect, Arterial stenosis, Patent ductus arteriosus ORPHA:79094
Heart Defects-Limb Shortening Syndrome
Abnormal tricuspid valve morphology, Abnormal mitral valve morphology, Abnormality of the pulmona... ORPHA:1354
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Right aortic arch, Dextrocardia OMIM:617577
Achondrogenesis Type 1A
Hydrops fetalis, Polyhydramnios, Recurrent fractures, Abnormal enchondral ossification, Thickened... ORPHA:93299
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Left superior vena cava draining directly to the left atrium, Pulmonar... OMIM:613759
Igg4-Related Aortitis
Abnormal aortic arch morphology, Thoracic aortic aneurysm, Ascending tubular aorta aneurysm, Aort... ORPHA:449400
Fadd-Related Immunodeficiency
Ventricular septal defect, Pulmonary artery atresia ORPHA:306550
Testicular Anomalies With Or Without Congenital Heart Disease
Tetralogy of Fallot OMIM:615542
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Atrial septal defect, Partial anomalous pulmonary venous return, Dextrocardia, Ventricular septal... OMIM:619657
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Varicose veins, Ventricular septal defect, Peripheral arterial stenosis, Patent ductus arteriosus OMIM:126320
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Tr... OMIM:616501
Glycogen Storage Disease Iv
Hydrops fetalis, Polyhydramnios, Bradycardia, Cardiomyopathy, Ascites, Portal hypertension, Flexi... OMIM:232500
Congenital Heart Defects, Multiple Types, 3
Persistent left superior vena cava, Atrial septal defect, Abnormal heart morphology, Tetralogy of... OMIM:614954
Heart Defects, Congenital, And Other Congenital Anomalies
Perimembranous ventricular septal defect, Transposition of the great arteries, Double outlet left... OMIM:600001
Achondrogenesis Type 1B
Hydrops fetalis, Polyhydramnios, Abnormal rib morphology, Thickened nuchal skin fold, Abnormal en... ORPHA:93298
Gillespie Syndrome
Truncus arteriosus OMIM:206700
Bronchopulmonary Dysplasia
Emphysema, Atelectasis, Tracheobronchomalacia, Pulmonary sequestration, Abnormal lung morphology,... ORPHA:70589
Velocardiofacial Syndrome
Right aortic arch with mirror image branching, Interrupted aortic arch, Pulmonary artery atresia,... OMIM:192430
Atrial Septal Defect 1
Bicuspid aortic valve, Atrial septal dilatation, Aortic valve stenosis, Tetralogy of Fallot with ... OMIM:108800
Ritscher-Schinzel Syndrome 1
Aortic valve stenosis, Pulmonic stenosis, Tetralogy of Fallot, Double outlet right ventricle, Atr... OMIM:220210
Recombinant Chromosome 8 Syndrome
Pulmonic stenosis, Tetralogy of Fallot, Patent ductus arteriosus, Double outlet right ventricle, ... OMIM:179613
Adams-Oliver Syndrome 4
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:615297
Heterotaxy, Visceral, 2, Autosomal
Situs inversus totalis, Atrioventricular canal defect, Transposition of the great arteries, Dextr... OMIM:605376
8P23.1 Duplication Syndrome
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot ORPHA:251076
Achondrogenesis
Polyhydramnios, Hydrops fetalis, Abnormality of bone mineral density, Abnormal enchondral ossific... ORPHA:932
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Polyhydramnios, Hydrops fetalis, Fetal pericardial effusion, Fetal pleural effusion, Fetal ascites OMIM:619462
Hydrops Fetalis, Nonimmune
Congestive heart failure, Hydrops fetalis, Nonimmune hydrops fetalis OMIM:236750
Achondrogenesis, Type Ib
Stillbirth, Absent or minimally ossified vertebral bodies, Polyhydramnios, Breech presentation, H... OMIM:600972
Nuchal Bleb, Familial
Stillbirth, Hydrops fetalis, Fetal cystic hygroma OMIM:257350
Lymphatic Malformation 8
Stillbirth, Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion, Nonimmune ... OMIM:618773
Microphthalmia, Syndromic 9
Right aortic arch with mirror image branching, Hypoplastic left atrium, Truncus arteriosus, Pulmo... OMIM:601186
Heart And Brain Malformation Syndrome
Interrupted aortic arch, Ventricular septal defect OMIM:616920
Aortic Arch Interruption
Bicuspid aortic valve, Transposition of the great arteries, Aortic valve atresia, Aortopulmonary ... ORPHA:2299
Tetralogy Of Fallot
Tetralogy of Fallot ORPHA:3303
Stankiewicz-Isidor Syndrome
Truncus arteriosus, Ventricular septal defect, Patent ductus arteriosus OMIM:617516
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Left ventricular noncompaction, Hypertrophic card... OMIM:617228
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue, Hypertrophic cardiomyopathy, Fl... OMIM:252011
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal QRS complex, Fetal distress, Hydrops fetalis, Redu... ORPHA:45452
Isolated Dandy-Walker Malformation
Tetralogy of Fallot ORPHA:217
Aortic Valve Disease 2
Calcification of the aorta, Aortic aneurysm, Patent foramen ovale, Aortic tortuosity, Pulmonic st... OMIM:614823
Right Atrial Isomerism
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Pulmonary artery atres... OMIM:208530
Cardiac Valvular Dysplasia 1
Left atrial enlargement, Pulmonic stenosis, Mitral valve prolapse, Edema, Hypoplasia of right ven... OMIM:212093
Fixed Subaortic Stenosis
Pulmonic stenosis, Abnormal heart morphology, Diastolic heart murmur, Cardiomegaly, Left ventricu... ORPHA:3092
Cranioacrofacial Syndrome
Pulmonic stenosis, Ventricular septal defect OMIM:122850
Ciliary Dyskinesia, Primary, 29
Bronchiectasis, Situs inversus totalis, Recurrent respiratory infections, Atelectasis OMIM:615872
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Respiratory Distress Syndrome In Premature Infants
Edema, Pulmonary edema, Atelectasis OMIM:267450
Cutis Laxa-Marfanoid Syndrome
Congenital diaphragmatic hernia, Emphysema, Abnormal heart valve morphology, Limitation of joint ... ORPHA:171719
Cardiomyopathy, Dilated, 1D
Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco... OMIM:601494
Capillary Malformation-Arteriovenous Malformation
Congestive heart failure, Abnormality of the musculature of the limbs, Abnormal bleeding, Arterio... ORPHA:137667
Fetal Gaucher Disease
Stillbirth, Hydrops fetalis, Neonatal death, Flexion contracture, Intracranial hemorrhage, Decrea... ORPHA:85212
Absence Of The Pulmonary Artery
Right aortic arch, Truncus arteriosus, Abnormal inferior vena cava morphology, Patent foramen ova... ORPHA:980
Lymphatic Malformation 7
Pulmonary edema, Facial edema, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuch... OMIM:617300
Lymphatic Malformation 12
Polyhydramnios, Pleural thickening, Lymphedema, Fetal pericardial effusion, Fetal pleural effusio... OMIM:620014
Dyssegmental Dysplasia, Silverman-Handmaker Type
Single umbilical artery, Hydrops fetalis, Clubbing of fingers, Hypoplastic pubic bone, Short ribs... ORPHA:1865
Trisomy 13
Abnormal lung lobation, Hydrops fetalis, Postaxial hand polydactyly, Abnormal pelvic girdle bone ... ORPHA:3378
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Abnormal aortic arch morphology, Abnormal cardiac ventricle morphology, Ab... ORPHA:2306
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Congenital diaphragmatic hernia, Abnormal lung lobation, Abnormal thumb morphology, Atrioventricu... ORPHA:1120
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect, Hypoplastic left heart OMIM:614474
Eng-Strom Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:1937
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Perimembranous ventricular septal defect, Cardiomegaly, Right aortic arch... OMIM:620642
Achondrogenesis, Type Ia
Hypoplasia of the radius, Stillbirth, Hydrops fetalis, Polyhydramnios, Unossified vertebral bodie... OMIM:200600
Gm1 Gangliosidosis
Abnormal metaphysis morphology, Congestive heart failure, Hydrops fetalis, Abnormal diaphysis mor... ORPHA:354
Sick Sinus Syndrome 2
Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P... OMIM:163800
Sialidosis Type 2
Hydrops fetalis, Ascites, Osteoporosis, Flexion contracture, Skeletal muscle atrophy, Pedal edema ORPHA:87876
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Pleural thickening, Atelectasis, Right ventricular fa... ORPHA:2302
Combined Oxidative Phosphorylation Deficiency 20
Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:615917
Congenital Enterovirus Infection
Myocarditis, Fetal distress, Abnormal bleeding, Hydrops fetalis, Polyhydramnios, Pleural effusion... ORPHA:292
Acrocardiofacial Syndrome
Truncus arteriosus, Coarctation of aorta, Mitral stenosis, Tetralogy of Fallot, Atrial septal def... ORPHA:2008
Greenberg Dysplasia
Short long bone, Short ribs, Short metacarpal, Decreased skull ossification, Multiple prenatal fr... OMIM:215140
Renal-Hepatic-Pancreatic Dysplasia 2
Situs inversus totalis, Truncus arteriosus, Hypertrophic cardiomyopathy, Pulmonic stenosis, Aorti... OMIM:615415
Fibrochondrogenesis 1
Narrow greater sciatic notch, Short ribs, Short long bone, Dumbbell-shaped long bone, Hypoplastic... OMIM:228520
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Congenital diaphragmatic hernia, Abnormal hip bone morphology, Abnormal aortic morphology, Joint ... ORPHA:1166
Verheij Syndrome
Truncus arteriosus, Ventricular septal defect OMIM:615583
Gm1-Gangliosidosis, Type I
Congestive heart failure, Hydrops fetalis, Abnormal heart valve morphology, Hypertrophic cardiomy... OMIM:230500
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Left ventricular systolic dysfunction, Patent foramen ovale, Aspiration pneumonia, Tricuspid regu... OMIM:619167
Cardiac-Urogenital Syndrome
Mesocardia, Patent ductus arteriosus, Dextrocardia, Interrupted aortic arch, Scimitar anomaly, Co... OMIM:618280
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Distal lower ... ORPHA:254361
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Nonimmune hydrops fetalis, Posterior rib fusion, Dysplastic tricuspid valve, Bicuspid aortic valv... OMIM:265380
Free Sialic Acid Storage Disease
Reduced bone mineral density, Hydrops fetalis, Ascites, Aplasia/Hypoplasia of the abdominal wall ... ORPHA:834
Skraban-Deardorff Syndrome
Right aortic arch, Ventricular septal defect OMIM:617616
Heterotaxy, Visceral, 5, Autosomal
Partial anomalous pulmonary venous return, Atrioventricular canal defect, Double inlet left ventr... OMIM:270100
Aortic Aneurysm, Familial Thoracic 9
Ascending aortic dissection, Mitral valve prolapse, Aortic tortuosity, Thoracic aortic aneurysm OMIM:616166
Platyspondylic Dysplasia, Torrance Type
Abnormal carpal morphology, Hydrops fetalis, Polyhydramnios, Metaphyseal cupping, Bowing of the l... ORPHA:85166
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent lower respiratory tract infections, Recurrent bronchitis, Recurrent pneumo... OMIM:616726
15Q11.2 Microdeletion Syndrome
Total anomalous pulmonary venous return, Coarctation of aorta, Abnormal heart morphology, Tetralo... ORPHA:261183
Trisomy 1Q
Congenital diaphragmatic hernia, Hydrops fetalis, Polyhydramnios, Abnormal rib morphology, Increa... ORPHA:261344
Mucopolysaccharidosis Type 7
Diaphyseal undertubulation, Hydrops fetalis, Arteriovenous malformation, Abnormal hip bone morpho... ORPHA:584
Phenobarbital Embryopathy
Abnormal mitral valve morphology, Tetralogy of Fallot ORPHA:1919
Gm1 Gangliosidosis Type 1
Abnormal placenta morphology, Hydrops fetalis, Spatulate ribs, Broad long bone diaphyses, Short l... ORPHA:79255
Mosaic Trisomy 9
Abnormal lung lobation, Rocker bottom foot, Single umbilical artery, Finger clinodactyly, Hydrops... ORPHA:99776
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Parachute mitral valve, Patent foramen ovale, Pulmonary artery atresia, Tetralogy of Fallot, Pate... OMIM:618316
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplasia of right ventricle, Transposition of the great arteries, Double outlet left ventricle,... ORPHA:2255
Long-Olsen-Distelmaier Syndrome
Congestive heart failure, Secundum atrial septal defect, Nonimmune hydrops fetalis, Severely redu... OMIM:620609
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Polyhydramnios, Hydrops fetalis, Pericarditis, Oligohydramnios ORPHA:163596
Phaver Syndrome
Coarctation of aorta, Ventricular septal defect, Pulmonary artery atresia, Hypoplastic aortic arch ORPHA:2876
Meacham Syndrome
Bicuspid aortic valve, Transposition of the great arteries, Partial anomalous pulmonary venous re... OMIM:608978
Long Qt Syndrome 15
2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi... OMIM:616249
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Prolonged prothrombin time, Congestive heart failure, Polyhydramnios, Fetal akinesia sequence, As... ORPHA:367
Cardiac Diverticulum
Abnormal coronary artery origin, Premature ventricular contraction, Aortic valve stenosis, Abnorm... ORPHA:1686
Heterotaxy, Visceral, 1, X-Linked
Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Bilateral superior vena cava, Transposit... OMIM:306955
Tetrasomy 15Q26
Atrial septal defect, Hypoplastic aortic arch, Patent ductus arteriosus OMIM:614846
Familial Cerebral Saccular Aneurysm
Aortic root aneurysm, Transient ischemic attack, Aortic dissection, Subarachnoid hemorrhage, Intr... ORPHA:231160
Mucopolysaccharidosis, Type Vii
Narrow greater sciatic notch, Genu valgum, Hydrops fetalis, Spatulate ribs, Abnormal heart valve ... OMIM:253220
Naxos Disease
Congestive heart failure, Right ventricular cardiomyopathy, Paroxysmal ventricular tachycardia, P... OMIM:601214
Infant Acute Respiratory Distress Syndrome
Pulmonary edema, Atelectasis, Bradycardia, Tachycardia, Cardiac arrest, Hypotension, Respiratory ... ORPHA:70587
Criss-Cross Heart
Transposition of the great arteries, Tricuspid stenosis, Pulmonic stenosis, Abnormal mitral valve... ORPHA:1461
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Congenital diaphragmatic hernia, Emphysema, Arachnodactyly, Abnormal heart morphology, Hip disloc... OMIM:614100
Long Qt Syndrome 3
Torsade de pointes, Hydrops fetalis, Prolonged QTc interval, Ventricular flutter, Ventricular fib... OMIM:603830
Osteogenesis Imperfecta, Type Ii
Absent ossification of calvaria, Pulmonary insufficiency, Congestive heart failure, Crumpled long... OMIM:166210
Methimazole Embryofetopathy
Coarctation of aorta, Ventricular septal defect, Abnormal aortic morphology ORPHA:1923
Ciliary Dyskinesia, Primary, 21
Bronchiectasis, Recurrent pneumonia, Atelectasis OMIM:615294
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Descending thoracic aorta aneurysm, Hypertension, Arachnodactyly, Descending aortic dissection, P... ORPHA:91387
Coenzyme Q10 Deficiency, Primary, 7
Hypoplastic left heart, Ventricular septal defect, Hypertrophic cardiomyopathy, Patent ductus art... OMIM:616276
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Distal lower limb muscle weakness, Joint hypermobility, Scapular winging, Tendon rupture, Fiber t... OMIM:620080
Emanuel Syndrome
Truncus arteriosus, Pulmonic stenosis, Aortic valve stenosis, Patent ductus arteriosus, Atrial se... OMIM:609029
Familial Isolated Dilated Cardiomyopathy
Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Edema, Dilated cardi... ORPHA:154
Ulnar Agenesis And Endocardial Fibroelastosis
Aplasia of the ulna, Hydrops fetalis, Finger aplasia, Neonatal death, Endocardial fibroelastosis OMIM:276822
Diffuse Neonatal Hemangiomatosis
Hydrops fetalis, Polyhydramnios, Ascites, Premature birth, Patent ductus arteriosus ORPHA:2123
Achondrogenesis, Type Ii
Short tubular bones of the hand, Stillbirth, Hydrops fetalis, Polyhydramnios, Hypoplastic iliac w... OMIM:200610
Mgat2-Cdg
Osteopenia, Abnormal bleeding, Hydrops fetalis, Patent ductus arteriosus, Reflex asystolic syncop... ORPHA:79329
Yuan-Harel-Lupski Syndrome
Aortic root aneurysm, Bicuspid aortic valve, Ventricular septal defect, Double outlet right ventr... OMIM:616652
Familial Bicuspid Aortic Valve
Abnormal left ventricular outflow tract morphology, Aortic arch aneurysm, Aortic valve stenosis, ... ORPHA:402075
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Recurrent respiratory infections, Atelectasis OMIM:619466
Kallmann Syndrome-Heart Disease Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Right aortic arch, Pulmonary ... ORPHA:2326
Phosphoribosylpyrophosphate Synthetase Superactivity
Cardiomyopathy, Abnormal aortic morphology ORPHA:3222
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Atelectasis OMIM:300455
Maternal Phenylketonuria
Coarctation of aorta, Abnormal heart morphology, Tetralogy of Fallot, Double outlet right ventric... ORPHA:2209
Lymphatic Malformation 11
Lymphedema, Pedal edema OMIM:619401
Idiopathic Bronchiectasis
Emphysema, Recurrent lower respiratory tract infections, Acute infectious pneumonia, Respiratory ... ORPHA:60033
Gaucher Disease Type 3
Abnormal pulmonary interstitial morphology, Hydrops fetalis, Increased bone mineral density, Abno... ORPHA:77261
Combined Oxidative Phosphorylation Deficiency 57
Cardiac arrest, Hypertrophic cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Fetal... OMIM:620167
Aortic Aneurysm, Familial Thoracic 10
Fusiform ascending tubular aorta aneurysm, Coronary artery atherosclerosis, Aortic root aneurysm,... OMIM:617168
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Patent ductus arteriosus OMIM:617044
Combined Oxidative Phosphorylation Defect Type 27
Ragged-red muscle fibers, Nonimmune hydrops fetalis ORPHA:477774
Intellectual Developmental Disorder, Autosomal Recessive 73
Ventricular septal defect, Patent ductus arteriosus OMIM:619717
Primary Ciliary Dyskinesia
Situs inversus totalis, Transposition of the great arteries, Abnormal atrial arrangement, Abnorma... ORPHA:244
Farber Disease
Short finger, Hydrops fetalis, Atelectasis, Arthritis, Ascites, Osteoporosis, Short toe, Flexion ... ORPHA:333
Feingold Syndrome Type 1
Tricuspid atresia, Interrupted aortic arch, Tricuspid stenosis, Multiple muscular ventricular sep... ORPHA:391641
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Vascular ring, Ventricular septal defect OMIM:603387
Lymphatic Malformation 6
Facial edema, Intestinal lymphangiectasia, Polyhydramnios, Chylothorax, Genital edema, Lymphedema... OMIM:616843
Acute Interstitial Pneumonia
Peripheral edema, Atelectasis, Hypertension, Pleural effusion, Bronchiectasis, Pericardial effusi... ORPHA:79126
Congenital Disorder Of Glycosylation, Type Il
Hydrops fetalis, Ascites, Fetal skin edema, Pericardial effusion, Decreased fetal movement, Atria... OMIM:608776
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Bicuspid aortic valve, Coarctation of aorta, Mitral valve prolapse, Double outlet right ventricle... ORPHA:371428
Spinal Muscular Atrophy, Type I
Atrial septal defect, Ventricular septal defect OMIM:253300
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Aortic valve stenosis, Lower eyelid edema, Arrhythmia, Premature bir... ORPHA:363705
Fetal Trimethadione Syndrome
Ventricular septal defect, Atrial septal defect, Transposition of the great arteries, Tetralogy o... ORPHA:1913
Lymphatic Malformation 13
Single umbilical artery, Patent foramen ovale, Lymphedema, Ascites, Pulmonary arterial hypertensi... OMIM:620244
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect OMIM:618782
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Reduced bone mineral density, Joint stiffness, Coarctation of aorta, Joint hypermobility, Recurre... OMIM:620210
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Arrhythmia, Tetralogy of Fallot, No... OMIM:153400
Ciliary Dyskinesia, Primary, 20
Situs inversus totalis, Dextrocardia, Persistent left superior vena cava, Pulmonary artery stenos... OMIM:615067
Intellectual Developmental Disorder, Autosomal Dominant 66
Cerebral cavernous malformation, Secundum atrial septal defect, Transposition of the great arteri... OMIM:619910
Craniofacioskeletal Syndrome
Interrupted aortic arch, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:300712
Smooth Muscle Dysfunction Syndrome
Dilatation of the cerebral artery, Vascular dilatation, Common carotid artery aneurysm, Brachioce... OMIM:613834
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Atrial septal defect, Ventricular septal defect, Histiocytoid cardiomyopathy OMIM:309801
Emanuel Syndrome
Truncus arteriosus, Pulmonic stenosis, Aortic valve stenosis, Patent ductus arteriosus, Atrial se... ORPHA:96170
Alg9-Cdg
Narrow greater sciatic notch, Abnormal bone ossification, Short long bone, Abnormal heart morphol... ORPHA:79328
Hadziselimovic Syndrome
Ventricular hypertrophy, Pulmonary artery atresia, Tetralogy of Fallot, Atrial septal defect, Ven... OMIM:612946
Familial Isolated Restrictive Cardiomyopathy
Left atrial enlargement, Pulmonary edema, Recurrent respiratory infections, Atrial fibrillation, ... ORPHA:75249
Schneckenbecken Dysplasia
Stillbirth, Polyhydramnios, Snail-like ilia, Short ribs, Flat acetabular roof, Short long bone, D... OMIM:269250
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Intestinal lymphangiectasia, Hypoplastic iliac wing, Pleural lympha... OMIM:235510
Blomstrand Lethal Chondrodysplasia
Hydrops fetalis, Polyhydramnios, Flared metaphysis, Metaphyseal cupping, Increased bone mineral d... ORPHA:50945
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Moyamoya phenomenon, Abnormal left ventricle morphology, Premature coronary artery atherosclerosi... OMIM:300845
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Generalized Arterial Calcification Of Infancy
Calcification of the aorta, Ventricular hypertrophy, Hypertension, Ascites, Abnormal retinal arte... ORPHA:51608
Myofibrillar Myopathy 11
Decreased fetal movement, Type 1 muscle fiber predominance, Calf muscle hypertrophy, EMG: myopath... OMIM:619178
Fetal Minoxidil Syndrome
Ventricular septal defect ORPHA:1918
1Q21.1 Microdeletion Syndrome
Interrupted aortic arch, Abnormal cardiac septum morphology, Patent ductus arteriosus ORPHA:250989
Noonan Syndrome 2
Abnormal coronary artery origin, Atrioventricular canal defect, Polyhydramnios, Patent foramen ov... OMIM:605275
Mitochondrial Trifunctional Protein Deficiency 1
Congestive heart failure, Hydrops fetalis, Abnormality of the amniotic fluid, Rhabdomyolysis, Arr... OMIM:609015
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polydactyly, Hydrops fetalis, Short long bone, Flat acetabular roof, Short ribs, Bowing of the lo... OMIM:614091
Fetal Encasement Syndrome
Tetralogy of Fallot OMIM:613630
Developmental And Epileptic Encephalopathy 96
Hydrops fetalis OMIM:619340
Congenital Gerbode Defect
Congestive heart failure, Perimembranous ventricular septal defect, Abnormal tricuspid valve leaf... ORPHA:99095
Hydrocephaly-Low Insertion Umbilicus Syndrome
Anomalous pulmonary venous return, Tetralogy of Fallot, Patent ductus arteriosus ORPHA:2184
14Q11.2 Microdeletion Syndrome
Ventricular septal defect, Patent ductus arteriosus ORPHA:261120
Renal Tubular Dysgenesis
Tetralogy of Fallot ORPHA:3033
Fliedner-Zweier Syndrome
Bicuspid aortic valve, Ventricular septal defect, Hypoplastic aortic arch OMIM:620511
Congenital Lobar Emphysema
Emphysema ORPHA:1928
Encephalocraniocutaneous Lipomatosis
Tricuspid valve prolapse, Interrupted aortic arch, Abnormal aortic morphology, Aortic valve steno... ORPHA:2396
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Palpebral edema, Hydrops fetalis, Predominantly lower limb lymphedema, Pleural effusion, Ascites,... ORPHA:69735
Waardenburg Syndrome Type 3
Atelectasis, Tracheomalacia, Abnormal finger morphology, Synostosis of carpal bones, Joint stiffn... ORPHA:896
Sarcoidosis, Susceptibility To, 2
Pneumothorax, Abnormal pulmonary interstitial morphology, Emphysema, Pleural effusion, Elevated b... OMIM:612387
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Noonan Syndrome 9
Pulmonic stenosis, Coarctation of aorta, Ventricular septal defect OMIM:616559
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Hydrops fetalis, Disproportionate shortening of the tibia, Postaxial polysyndactyly of foot, Shor... OMIM:263520
Combined Oxidative Phosphorylation Deficiency 42
Premature birth, Nonimmune hydrops fetalis, Neonatal death, Cardiomyopathy OMIM:618839
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Tetralogy of Fallot, Mitral valve prolapse, Patent ductus arteriosus, At... OMIM:612561
Congenital Myopathy 22B, Severe Fetal
Breech presentation, Ascites, Nonimmune hydrops fetalis, Decreased fetal movement, Elbow flexion ... OMIM:620369
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Slender long bone, Thin ribs, Decreased calvarial ossification, Nonimmune hydrops fetalis, Brachy... OMIM:618265
Combined Oxidative Phosphorylation Deficiency 40
Nonimmune hydrops fetalis, Neonatal death, Premature birth, Hypertrophic cardiomyopathy OMIM:618835
Gaucher Disease, Perinatal Lethal
Purpura, Polyhydramnios, Petechiae, Ascites, Neonatal death, Pulmonary hypoplasia, Premature birt... OMIM:608013
You-Hoover-Fong Syndrome
Coarctation of aorta, Vascular ring, Double aortic arch OMIM:616954
Myotubular Myopathy With Abnormal Genital Development
Polyhydramnios, Atelectasis, Thin ribs, Centrally nucleated skeletal muscle fibers, Neonatal deat... OMIM:300219
Global Developmental Delay With Or Without Impaired Intellectual Development
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:618330
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Vitreous hemorrhage, Atelectasis, Hammertoe, Limb hypertonia, Retinal arterial tortuosity, Hydrop... OMIM:620371
Isotretinoin Embryopathy-Like Syndrome
Conotruncal defect OMIM:243440
Noonan Syndrome 12
Ventricular septal defect, Tetralogy of Fallot OMIM:618624
Bardet-Biedl Syndrome 19
Partial atrioventricular canal defect, Patent ductus arteriosus, Atrial septal defect, Ventricula... OMIM:615996
Li-Campeau Syndrome
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Patent ductus arteriosus OMIM:619189
Alpha-Thalassemia
Congestive heart failure, Hydrops fetalis, Pleural effusion, Generalized edema, Pericardial effusion ORPHA:846
Peroxisome Biogenesis Disorder 12A (Zellweger)
Double outlet right ventricle, Atrial septal defect, Patent ductus arteriosus OMIM:614886
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Interrupted aortic arch, Intracranial hemorrhage, Patent ductus arteriosus, Atrial septal defect,... ORPHA:163979
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Perimembranous ventricular septal defect, Sandal gap, Short 2nd finger, 2-3 toe syndactyly, Cutan... OMIM:600987
Meconium Aspiration Syndrome
Pneumothorax, Pulmonary insufficiency, Fetal distress, Atelectasis, Pulmonary arterial hypertensi... ORPHA:70588
Bronchogenic Cyst
Bronchogenic cyst, Abnormality of the diaphragm, Atelectasis, Abnormal pericardium morphology, Ab... ORPHA:2357
Congenital Tracheomalacia
Tracheobronchomalacia, Abnormal heart morphology, Premature birth, Cardiomegaly, Pulmonary arteri... ORPHA:95430
Multiple Pterygium Syndrome, Escobar Variant
Congenital diaphragmatic hernia, Rocker bottom foot, Dislocated radial head, Arachnodactyly, Synd... OMIM:265000
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Facial edema, Polyhydramnios, Chylothorax, Lymphedema, Pleural effusion, Ascites... OMIM:265300
Cardiomyopathy, Familial Restrictive, 3
Myocardial sarcomeric disarray, Restrictive cardiomyopathy, Right atrial enlargement, Aortic aneu... OMIM:612422
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Tetralogy of Fallot ORPHA:1381
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Overriding aorta, Tetralogy of Fallot ORPHA:3186
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Coarctation of aorta, Subvalvular aortic stenosis, Complete atrioventricular canal defect OMIM:217085
Alg8-Cdg
Hydrops fetalis, Ascites, Camptodactyly, Premature birth, Brachydactyly, Edema, Macroglossia, Oli... ORPHA:79325
Yunis-Varon Syndrome
Rocker bottom foot, Absent sternal ossification, Abnormal finger morphology, Hypertension, Cardio... ORPHA:3472
Nemaline Myopathy 9
Ventricular septal defect OMIM:615731
Inflammatory Skin And Bowel Disease, Neonatal, 2
Polyhydramnios, Hypertension, Dehydration, Coarctation of aorta, Recurrent pneumonia, Recurrent b... OMIM:616069
Meacham Syndrome
Situs inversus totalis, Transposition of the great arteries, Ventricular septal defect, Anomalous... ORPHA:3097
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect OMIM:614876
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Hypoplastic left heart, Abnormal aortic morphology, Patent ductus arteriosus ORPHA:2001
Diabetic Embryopathy
Transposition of the great arteries, Abnormal aortic morphology, Tetralogy of Fallot, Abnormality... ORPHA:1926
Gaucher Disease
Joint stiffness, Pathologic fracture, Osteolysis, Abnormal bleeding, Hydrops fetalis, Increased b... ORPHA:355
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Restrictive cardiomyopathy, Right atrial enlargement, Pericardial effusion, Nonimmune hydrops fet... OMIM:619313
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Interrupted aortic arch, Patent foramen ovale, Hypertrophic cardiomyopathy, Coarctation of aorta,... ORPHA:17
Allergic Bronchopulmonary Aspergillosis
Bronchiectasis, Emphysema, Pulmonary arterial hypertension ORPHA:1164
Congenital Syphilis
Myocarditis, Periostitis, Purpura, Large placenta, Hydrops fetalis, Petechiae, Tibial bowing, Syn... ORPHA:499009
Aortic Aneurysm, Familial Thoracic 12
Aortic regurgitation, Aortic root aneurysm, Arthritis, Ascending tubular aorta aneurysm, Spontane... OMIM:619825
C1Q Deficiency 2
Atelectasis, Recurrent lower respiratory tract infections, Arthritis, Vasculitis in the skin, Bro... OMIM:620321
Apert Syndrome
Overriding aorta, Ventricular septal defect OMIM:101200
Catel-Manzke Syndrome
Overriding aorta, Coarctation of aorta, Ventricular septal defect, Dextrocardia OMIM:616145
Congenital Total Pulmonary Venous Return Anomaly
Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o... ORPHA:99125
Mycophenolate Mofetil Embryopathy
Congenital diaphragmatic hernia, Hydrops fetalis, Tracheomalacia, Foot polydactyly, Short palm, C... ORPHA:268249
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Congenital diaphragmatic hernia, Preaxial polydactyly, Hydrops fetalis, Polyhydramnios, Short rib... OMIM:616546
Phace Association
Vascular dilatation, Aortic aneurysm, Coarctation of aorta, Arterial stenosis, Patent ductus arte... OMIM:606519
Hypoplastic Left Heart Syndrome 2
Hypoplastic left heart, Mitral atresia, Ventricular septal defect, Aortic valve atresia OMIM:614435
Feingold Syndrome 1
Tricuspid atresia, Interrupted aortic arch, Tricuspid stenosis, Patent ductus arteriosus, Ventric... OMIM:164280
Cranioectodermal Dysplasia 2
Polydactyly, Hydrops fetalis, Polyhydramnios, Patent ductus arteriosus, Patent foramen ovale, Hyp... OMIM:613610
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Premature birth, Nonimmune hydrops fetalis OMIM:618838
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
S-Adenosylhomocysteine Hydrolase Deficiency
Prolonged prothrombin time, Muscular dystrophy, Hydrops fetalis, Cardiomyopathy ORPHA:88618
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Distal 22Q11.2 Microdeletion Syndrome
Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Aortic aneurysm ORPHA:261330
Mmep Syndrome
Ventricular septal defect ORPHA:3434
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Joint hypermobility, Patent foramen ovale, Prominent fingertip pads, Increased nuchal translucenc... OMIM:618494
Lymphatic Malformation 1
Hyperkeratosis over edematous areas, Hypoplasia of lymphatic vessels, Predominantly lower limb ly... OMIM:153100
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
20Q13.33 Microdeletion Syndrome
Abnormal cardiac ventricle morphology, Atrial septal defect, Dilation of Virchow-Robin spaces, Hy... ORPHA:261311
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:618974
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect OMIM:608227
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Repeated pneumothoraces, Arachnodactyly, Slender long bones with narrow diaphyses, Mitral valve p... ORPHA:536467
8P23.1 Microdeletion Syndrome
Congenital diaphragmatic hernia, Atrioventricular canal defect, Transposition of the great arteri... ORPHA:251071
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Double outlet right ventricle, Ventricular septal defect, Pulmonary artery atresia, Pulmonic sten... OMIM:301056
Alg3-Cdg
Cardiomyopathy, Coarctation of the descending aortic arch ORPHA:79321
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Pulmonic stenosis, Coarctation of aorta, Abnormal heart morphology, Pate... ORPHA:284169
Loeys-Dietz Syndrome 4
Pneumothorax, Emphysema, Torticollis, Arterial tortuosity, Joint hypermobility, Aortic root aneur... OMIM:614816
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Campomelia, Cumming Type
Hydrops fetalis, Lymphedema, Bowing of the long bones, Abnormal rib morphology, Abnormally ossifi... ORPHA:1318
Glycogen Storage Disease Due To Acid Maltase Deficiency
Heart murmur, Left ventricular hypertrophy, Cardiomegaly, Thoracic aortic aneurysm, Lower limb mu... ORPHA:365
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Arterial dissection, Mitral valve prolapse, Joint hypermobility, Hip dislocation, Abnormal bleedi... ORPHA:1900
Catel-Manzke Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:1388
Short-Rib Thoracic Dysplasia 12
Short finger, Polyhydramnios, Atelectasis, Patent ductus arteriosus, Patent foramen ovale, Short ... OMIM:269860
Perlman Syndrome
Interrupted aortic arch OMIM:267000
Cutis Laxa, Autosomal Recessive, Type Ia
Congenital diaphragmatic hernia, Emphysema, Aortic regurgitation, Ascending tubular aorta aneurys... OMIM:219100
Laubry-Pezzi Syndrome
Perimembranous ventricular septal defect, Patent ductus arteriosus, Subarterial ventricular septa... ORPHA:99094
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Patent ductus arteriosus, Cardiomegaly, Atrial septal defect, Ventricular s... OMIM:618652
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Stroke, Ventricular septal defect ORPHA:49827
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Hypersensitivity pneumonitis, Emphysema, Honeycomb lung, Respiratory tract infection, Bronchiecta... ORPHA:79127
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Coarctation of abdominal aorta, Cardiomyopathy, Endocardial fibroelastosis OMIM:226100
Double Outlet Left Ventricle
Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv... ORPHA:3427
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Perimembranous ventricular septal defect, Atrioventricular canal defect, Truncus arteriosus, Coar... ORPHA:508498
Fetal Akinesia Deformation Sequence 1
Rocker bottom foot, Wrist flexion contracture, Premature birth, Nonimmune hydrops fetalis, Decrea... OMIM:208150
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hydrops fetalis, Short middle phalanx of the 4th finger, Limited pronation/supination of forearm,... OMIM:616738
Hypocomplementemic Urticarial Vasculitis
Small vessel vasculitis, Emphysema, Abnormal heart valve morphology, Arthritis, Pleural effusion,... ORPHA:36412
Hennekam Syndrome
Hydrops fetalis, Arteriovenous malformation, Chylothorax, Finger syndactyly, Lymphedema, Ascites,... ORPHA:2136
Arterial Tortuosity Syndrome
Rocker bottom foot, Abnormal carotid artery morphology, Hypertension, Arachnodactyly, Joint hyper... ORPHA:3342
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Pulmonic stenosis, Abnormal heart morphology, Discordant atrioventricular connection,... ORPHA:216694
Mosaic Trisomy 16
Single umbilical artery, Large placenta, Patent ductus arteriosus, Single coronary artery origin,... ORPHA:1708
Hemochromatosis, Neonatal
Oligohydramnios, Abnormal bleeding, Nonimmune hydrops fetalis OMIM:231100
Fryns Syndrome
Abnormal cardiac septum morphology, Abnormal aortic morphology, Abnormal aortic arch morphology, ... ORPHA:2059
Down Syndrome
Atrioventricular canal defect, Patent ductus arteriosus, Patent foramen ovale, Ebstein anomaly of... OMIM:190685
Cutis Laxa, Autosomal Recessive, Type Ic
Osteopenia, Emphysema, Atelectasis, Sandal gap, Vascular dilatation, Breech presentation, Morgagn... OMIM:613177
Congenital Disorder Of Glycosylation, Type Ia
Prolonged prothrombin time, Osteopenia, Cardiomyopathy, Abnormality of the amniotic fluid, Perica... OMIM:212065
Loeys-Dietz Syndrome 6
Congenital diaphragmatic hernia, Arterial tortuosity, Ventricular hypertrophy, Aortic tortuosity,... OMIM:619656
Familial Nasal Acilia
Bronchiectasis, Atelectasis, Recurrent upper respiratory tract infections ORPHA:922
Atrial Septal Defect, Ostium Primum Type
Left atrial enlargement, Third heart sound, Left ventricular hypertrophy, Right ventricular dilat... ORPHA:99106
Thiamine-Responsive Megaloblastic Anemia Syndrome
Situs inversus totalis, Stroke, Cardiomyopathy, Atrial septal defect, Ventricular septal defect OMIM:249270
Bare Lymphocyte Syndrome, Type I
Bronchiectasis, Recurrent bronchitis, Emphysema, Bronchiolitis OMIM:604571
Mosaic Trisomy 1
Congenital diaphragmatic hernia, Rocker bottom foot, Broad 2nd toe, Arachnodactyly, Long toe, Dev... ORPHA:1692
Timothy Syndrome
Patent foramen ovale, Tetralogy of Fallot, Patent ductus arteriosus, Cardiomegaly, Ventricular se... OMIM:601005
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect OMIM:614262
46,Xx Sex Reversal 5
Secundum atrial septal defect, Ventricular septal defect, Hypoplastic left heart OMIM:618901
Recurrent Respiratory Papillomatosis
Atelectasis, Abnormal lung morphology, Recurrent pneumonia, Recurrent upper respiratory tract inf... ORPHA:60032
Birt-Hogg-Dubé Syndrome
Pneumothorax, Pulmonary sequestration, Emphysema ORPHA:122
Diaphragmatic Hernia 4, With Cardiovascular Defects
Polyhydramnios, Clinodactyly of the 5th finger, 11 pairs of ribs, Finger syndactyly, Aortic root ... OMIM:620025
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Fetal distress, Pulmonary arterial hypertension, Coarctation of aorta, Patent ductus arteriosus, ... OMIM:614857
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Atelectasis, Recurrent respiratory infections, Elevated bronchoalveolar lavage fluid lymphocyte p... OMIM:610978
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Coarctation of aorta, Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect, A... OMIM:600460
Distal Triplication 15Q
Atrial septal defect, Abnormal heart morphology, Hypoplastic aortic arch, Patent ductus arteriosus ORPHA:314588
Giant Cell Arteritis
Vasculitis, Double outlet right ventricle with subpulmonary ventricular septal defect without pul... ORPHA:397
Noonan Syndrome 10
Patent ductus arteriosus, Pleural effusion, Hypertrophic cardiomyopathy, Increased nuchal translu... OMIM:616564
Autosomal Recessive Cutis Laxa Type 1
Pneumothorax, Congestive heart failure, Emphysema, Vascular dilatation, Abnormal cardiac ventricu... ORPHA:90349
Congenital Fibrinogen Deficiency
Prolonged prothrombin time, Abnormal bleeding, Clubbing of fingers, Gingival bleeding, Internal h... ORPHA:335
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Aortic root aneurysm, Atrial septal defect, Ventricular septal defect OMIM:301039
Wolcott-Rallison Syndrome
Double outlet right ventricle, Atrial septal defect ORPHA:1667
Xk Aprosencephaly Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:3469
Lmna-Related Cardiocutaneous Progeria Syndrome
Congestive heart failure, Emphysema, Coronary artery atherosclerosis, Aortic root aneurysm, Ventr... ORPHA:363618
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:613870
Yunis-Varon Syndrome
Absent sternal ossification, Cardiomyopathy, Flat acetabular roof, Decreased skull ossification, ... OMIM:216340
Ehlers-Danlos Syndrome, Vascular Type
Hypermobility of distal interphalangeal joints, Repeated pneumothoraces, Descending aortic dissec... OMIM:130050
X-Linked Intellectual Disability, Nascimento Type
Abnormal vena cava morphology, Patent foramen ovale, Mitral stenosis, Tetralogy of Fallot, Patent... ORPHA:163956
Congenital Factor X Deficiency
Prolonged prothrombin time, Spontaneous hematomas, Gastrointestinal hemorrhage, Intramuscular hem... ORPHA:328
Alpha-1-Antitrypsin Deficiency
Bronchiectasis, Chronic bronchitis, Panacinar emphysema OMIM:613490
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:83473
Neonatal Marfan Syndrome
Tricuspid valve prolapse, Emphysema, Abnormal cardiac ventricle morphology, Aortic root aneurysm,... ORPHA:284979
Pericardial And Diaphragmatic Defect
Abnormal heart morphology, Tetralogy of Fallot, Mitral stenosis, Patent ductus arteriosus, Bicusp... ORPHA:2847
Distal Deletion 15Q
Abnormal aortic arch morphology, Coarctation of aorta, Double outlet right ventricle with doubly ... ORPHA:1596
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema, Portal hypertension OMIM:210050
Cutis Laxa, Autosomal Recessive, Type Ib
Congenital diaphragmatic hernia, Pulmonary artery aneurysm, Arterial tortuosity, Bradycardia, Hyp... OMIM:614437
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Atrioventricular canal defect, Aortic valve stenosis, Tetralogy of Fallo... ORPHA:210122
Hypophosphatasia
Abnormal metaphysis morphology, Emphysema, Bowing of the long bones, Abnormal rib morphology, Cra... ORPHA:436
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hydrops fetalis, Stroke, Dehydration, Pulmonary arterial hypertension, Abnormal heart morphology,... ORPHA:79282
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Bicuspid aortic valve, Pulmonary artery atresia, Ventricular septal defect, Supravalvar pulmonary... OMIM:618164
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Muscular dystrophy, Atelectasis, Recurrent lower respiratory tract infections, Reduced left ventr... ORPHA:258
Lujo Hemorrhagic Fever
Myocarditis, Purpura, Stiff neck, Atelectasis, Bradycardia, Hypotension, Generalized edema, Ecchy... ORPHA:319213
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Telangiectasia of extensor surfaces, Palpebral edema, Lymphedema, Facial telangiectasia in butter... OMIM:137940
Fabry Disease
Abnormal femur morphology, Reduced bone mineral density, Hypertension, Left ventricular hypertrop... ORPHA:324
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Congestive heart failure, Cardiomegaly, Aortic regurgitation, Partial atrioventricular canal defe... OMIM:620066
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Digeorge Syndrome
Right aortic arch with mirror image branching, Interrupted aortic arch, Truncus arteriosus, Tetra... OMIM:188400
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abnormal pulmonary interstitial morphology, Atelectasis, Recurrent lower respiratory tract infect... OMIM:620233
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Ventricular septal defect OMIM:616898
Charge Syndrome
Right aortic arch, Pulmonary artery atresia, Dysplastic tricuspid valve, Pulmonic stenosis, Secun... OMIM:214800
Fraser Syndrome 3
Abnormal lung lobation, Stillbirth, Sonographic non-visualized fetal bladder, Ascites, Short toe,... OMIM:617667
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Atrial septal defect, Hypoplastic right heart, Ventricular septal defect, Patent ductus arteriosus OMIM:618142
Alagille Syndrome 2
Pulmonic stenosis, Atrial septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot OMIM:610205
Holoprosencephaly 13, X-Linked
Patent foramen ovale, Patent ductus arteriosus, Double outlet right ventricle, Ventricular septal... OMIM:301043
Marfan Syndrome
Limited elbow movement, Reduced bone mineral density, Aortic tortuosity, Arterial dissection, Ara... ORPHA:558
Familial Idiopathic Dilatation Of The Right Atrium
Peripheral edema, Paroxysmal atrial fibrillation, Reduced left ventricular ejection fraction, Abn... ORPHA:1677
Intellectual Developmental Disorder, Autosomal Dominant 21
Atrial septal defect, Coarctation of aorta, Patent ductus arteriosus OMIM:615502
Congenital Rubella Syndrome
Abnormality of the pulmonary artery, Atrial septal defect, Ventricular septal defect, Patent duct... ORPHA:290
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Dextrotransposition of the great arteries, Ventricular septal defect OMIM:619995
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Hypoplastic aortic arch, Aortic root aneurysm, Patent foramen ovale, Hypertrophic cardiomyopathy,... OMIM:617506
Arterial Tortuosity Syndrome
Congenital diaphragmatic hernia, Ischemic stroke, Aortic regurgitation, Aortic root aneurysm, Ven... OMIM:208050
Transketolase Deficiency
Patent foramen ovale, Abnormal coronary artery course, Abnormal heart morphology, Patent ductus a... ORPHA:488618
Warsaw Breakage Syndrome
Ventricular septal defect, Tetralogy of Fallot OMIM:613398
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Hallux valgus, Patent foramen ovale, Ventricular septal defect, Synostosis of the proximal phalan... OMIM:300967
Fanconi Anemia, Complementation Group B
Abnormal lung lobation, Single umbilical artery, Bilateral radial aplasia, Coarctation of aorta, ... OMIM:300514
22Q11.2 Deletion Syndrome
Atrial septal defect, Tricuspid atresia, Abnormal aortic valve morphology, Abnormal aortic arch m... ORPHA:567
Williams Syndrome
Abnormal carotid artery morphology, Retinal arteriolar tortuosity, Abnormal endocardium morpholog... ORPHA:904
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Fetal distress, Bilateral fetal pyelectasis, Hydrops fetalis, Breech presentation, Patent ductus ... OMIM:300868
Noonan Syndrome 8
Patent ductus arteriosus, Hypertrophic cardiomyopathy, Pulmonic stenosis, Left ventricular hypert... OMIM:615355
Intellectual Developmental Disorder, Autosomal Recessive 79
Ventricular septal defect OMIM:620393
Kapur-Toriello Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus ORPHA:2328
Congenital Aortic Valve Stenosis
Abnormal T-wave, Abnormal left ventricular function, Reduced left ventricular ejection fraction, ... ORPHA:3093
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Spontaneous neonatal pneumothorax, Abnormal pulmonary interstitial morphology, Intraalveolar phos... ORPHA:217563
Fanconi Renotubular Syndrome 5
Hypertension, Lung adenocarcinoma, Emphysema, Pulmonary fibrosis OMIM:618913
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Double outlet right ventricle, Atrial septal defect, Pulmonic stenosis, Patent ductus arteriosus OMIM:618223
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Patent foramen ovale, Transposition of the great arteries OMIM:616789
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Perimembranous ventricular septal defect, Transposition of the great arteries, Muscular ventricul... OMIM:612474
Weill-Marchesani Syndrome
Pulmonic stenosis, Ventricular septal defect, Aortic valve stenosis ORPHA:3449
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Ventricular septal defect OMIM:615524
Weiss-Kruszka Syndrome
Bicuspid aortic valve, Dextrotransposition of the great arteries, Ventricular septal defect, Left... OMIM:618619
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Hydrops fetalis ORPHA:766
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect OMIM:616816
Homozygous Familial Hypercholesterolemia
Calcification of the aorta, Hypertension, Precocious atherosclerosis, Peripheral arterial stenosi... ORPHA:391665
Charge Syndrome
Abnormal aortic valve morphology, Interrupted aortic arch, Aortic arch aneurysm, Tetralogy of Fal... ORPHA:138
Chromosome 1P36 Deletion Syndrome, Proximal
Atrial septal defect, Patent ductus arteriosus, Coronary artery fistula, Patent foramen ovale, Ve... OMIM:619343
Transaldolase Deficiency
Patent foramen ovale, Coarctation of aorta, Patent ductus arteriosus, Atrial septal defect, Ventr... OMIM:606003
Keutel Syndrome
Pulmonary artery stenosis, Ventricular septal defect ORPHA:85202
Inverted Duplicated Chromosome 15 Syndrome
Ventricular septal defect, Tetralogy of Fallot ORPHA:3306
Lymphangioleiomyomatosis
Pneumothorax, Gastrointestinal hemorrhage, Atelectasis, Emphysema, Recurrent respiratory infectio... ORPHA:538
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Patent foramen ovale, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Hypop... OMIM:618748
Keutel Syndrome
Emphysema, Premature fusion of phalangeal epiphyses, Short hallux, Epiphyseal stippling, Recurren... OMIM:245150
De Barsy Syndrome
Hypoplastic aortic arch, Prominent veins on trunk, Patent ductus arteriosus, Persistent left supe... ORPHA:2962
Ciliary Dyskinesia, Primary, 1
Situs inversus totalis, Absent outer dynein arms, Atelectasis, Recurrent bronchitis, Nasal polypo... OMIM:244400
Tracheobronchopathia Osteochondroplastica
Atelectasis, Bronchitis, Recurrent pneumonia, Pneumonia, Recurrent respiratory infections ORPHA:3348
Congenital Heart Defects And Skeletal Malformations Syndrome
Congenital diaphragmatic hernia, Clinodactyly of the 5th finger, Sandal gap, Repeated pneumothora... OMIM:617602
8Q24.3 Microdeletion Syndrome
Atrioventricular canal defect, Hypoplastic aortic arch, Truncus arteriosus, Dysplastic aortic val... ORPHA:508488
Autoinflammatory Disease, Systemic, With Vasculitis
Small vessel vasculitis, Purpura, Hydrops fetalis, Arthritis, Ascending tubular aorta aneurysm, P... OMIM:620376
Sifrim-Hitz-Weiss Syndrome
Fused cervical vertebrae, Short clavicles, Flat acetabular roof, Coarctation of aorta, Tetralogy ... OMIM:617159
Loeys-Dietz Syndrome 2
Pulmonary artery aneurysm, Arterial tortuosity, Descending thoracic aorta aneurysm, Arachnodactyl... OMIM:610168
Cholestasis, Progressive Familial Intrahepatic, 5
Prolonged prothrombin time, Nonimmune hydrops fetalis, Pleural effusion, Ascites OMIM:617049
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Hepatic arteriovenous malformation, Aortic aneurysm, Telangiectasia, Stroke, Clubbing, Aortic dis... OMIM:175050
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Hypoplastic left heart ORPHA:2476
Holoprosencephaly 14
Double outlet right ventricle, Ventricular septal defect, Aortic valve atresia OMIM:619895
Mosaic Variegated Aneuploidy Syndrome 2
Abnormal lung lobation, Clinodactyly of the 5th finger, Aortic regurgitation, Clinodactyly, Coarc... OMIM:614114
Mosaic Variegated Aneuploidy Syndrome
Abnormal lung lobation, Muscular dystrophy, Rhabdomyosarcoma, Polyhydramnios, Clinodactyly of the... ORPHA:1052
Loeys-Dietz Syndrome 3
Arterial tortuosity, Ventricular hypertrophy, Tortuous cerebral arteries, Aortic tortuosity, Pulm... OMIM:613795
Pontocerebellar Hypoplasia, Type 17
Secundum atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:619909
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Ventricular septal defect, Hypertrophic cardiomyopathy OMIM:616277
Ventriculomegaly With Cystic Kidney Disease
Ventricular septal defect, Vascular dilatation OMIM:219730
8Q12 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:228399
Cutis Laxa, Autosomal Dominant 1
Congestive heart failure, Emphysema, Aortic regurgitation, Mitral regurgitation, Bronchiectasis, ... OMIM:123700
Microgastria-Limb Reduction Defect Syndrome
Atrial septal defect, Truncus arteriosus ORPHA:2538
Prune Belly Syndrome
Atrial septal defect, Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus ORPHA:2970
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect ORPHA:75389
Frank-Ter Haar Syndrome
Patent foramen ovale, Secundum atrial septal defect, Mitral valve prolapse, Double outlet right v... OMIM:249420
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Osteopenia, Vascular dilatation, Atelectasis, Joint hypermobility, Craniosynostosis, Recurrent re... ORPHA:2314
Zygomycosis
Myocarditis, Pneumothorax, Hematemesis, Gastrointestinal hemorrhage, Atelectasis, Melena, Osteoly... ORPHA:73263
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Persistent left superior vena cava, Atrioventricular canal defect, Transposition of the great art... OMIM:314390
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ventricular septal defect ORPHA:94066
Aneurysm Of Sinus Of Valsalva
Congestive heart failure, Aortic regurgitation, Bacterial endocarditis, Heart murmur, Edema ORPHA:1054
Surfactant Metabolism Dysfunction, Pulmonary, 3
Reticular pattern on pulmonary HRCT, Paraseptal emphysema, Honeycomb lung, Intraalveolar phosphol... OMIM:610921
Anemia, Congenital Dyserythropoietic, Type Iv
Hydrops fetalis, Hypertrophic cardiomyopathy OMIM:613673
Craniofacial Dyssynostosis With Short Stature
Ventricular septal defect, Patent ductus arteriosus OMIM:218350
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Ventricular septal defect OMIM:618506
Marfan Syndrome
Arachnodactyly, Equinus calcaneus, Mitral valve prolapse, Mitral annular calcification, Bicuspid ... OMIM:154700
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Clinodactyly of the 5th toe, Clinodactyly of the 5th finger, Proximal placement of thumb, Patent ... OMIM:620113
Thrombocytopenia-Absent Radius Syndrome
Femoral bowing, Prolonged bleeding following circumcision, Bilateral radial aplasia, Broad thumb,... OMIM:274000
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:619769
X-Linked Lissencephaly With Abnormal Genitalia
Ventricular septal defect, Patent ductus arteriosus ORPHA:452
Lambert Syndrome
Ventricular septal defect ORPHA:1296
Femoral-Facial Syndrome
Truncus arteriosus, Pulmonic stenosis, Coarctation of aorta, Patent ductus arteriosus, Ventricula... OMIM:134780
Congenital Tracheal Stenosis
Anomalous origin of left pulmonary artery from ascending aorta, Pulmonary artery atresia, Ascendi... ORPHA:141127
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Patent foramen ovale, Abnormal heart morphology, Patent ductus arteriosus, Bicuspid aortic valve,... ORPHA:500159
Chromosome 5Q12 Deletion Syndrome
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Patent ductus arteriosus OMIM:615668
Multifocal Atrial Tachycardia
Hypertrophic cardiomyopathy, Pulmonic stenosis, Left ventricular dilatation, Atrial septal defect... ORPHA:3282
Pagod Syndrome
Congenital diaphragmatic hernia, Situs inversus totalis, Abnormal aortic morphology, Abnormal rib... ORPHA:991
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Pulmonic stenosis, Perimembranous ventricular septal defect, Transposition of the great arteries OMIM:617877
Diamond-Blackfan Anemia
Abnormality of the thenar eminence, Triphalangeal thumb, Partial duplication of thumb phalanx, Ab... ORPHA:124
Osteopathia Striata-Cranial Sclerosis Syndrome
Abnormal metaphysis morphology, Osteopetrosis, Increased bone mineral density, Large iliac wing, ... ORPHA:2780
Noonan Syndrome
Osteopenia, Abnormal bleeding, Clinodactyly of the 5th finger, Patent ductus arteriosus, Lymphede... ORPHA:648
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Transposition of the great arteries, Pulmonary artery stenosis, Tetralogy of Fallot, Double outle... OMIM:280000
Cardiofaciocutaneous Syndrome 3
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Hypertrophic cardiomyopathy OMIM:615279
Idiopathic Chronic Eosinophilic Pneumonia
Pleural effusion, Hypersensitivity pneumonitis, Atelectasis ORPHA:2902
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema OMIM:618307
Galactosialidosis
Conjunctival telangiectasia, Nonimmune hydrops fetalis, Cherry red spot of the macula OMIM:256540
Beaulieu-Boycott-Innes Syndrome
Ventricular septal defect, Patent ductus arteriosus OMIM:613680
Delpire-Mcneill Syndrome
Ventricular septal defect OMIM:619083
Celiac Artery Stenosis From Compression By Median Arcuate Ligament Of Diaphragm
Celiac artery compression OMIM:116870
Surfactant Metabolism Dysfunction, Pulmonary, 2
Intraalveolar phospholipid accumulation, Nonspecific interstitial pneumonia, Intralobular septal ... OMIM:610913
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent left superior vena cava, Pericardial effusion, Ventricular septal defect, Hypertrophic... OMIM:618775
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Ventricular septal defect, Pulmonary artery atresia, Tetralogy of Fallot ORPHA:1908
Monosomy 18Q
Pulmonary valve defects, Aortic aneurysm, Dysplastic pulmonary valve, Absence of the pulmonary va... ORPHA:1600
Mucopolysaccharidosis Type 2, Severe Form
Diaphyseal undertubulation, Abnormal tricuspid valve morphology, Abnormal heart valve morphology,... ORPHA:217085
Aneurysm-Osteoarthritis Syndrome
Arterial tortuosity, Arterial dissection, Pulmonic stenosis, Arachnodactyly, Abnormal heart morph... ORPHA:284984
Phocomelia, Schinzel Type
Hypoplasia of the radius, Fibular aplasia, Aplasia of the ulna, Abnormal tibia morphology, Hydrop... ORPHA:2879
Diamond-Blackfan Anemia 7
Ventricular septal defect, Secundum atrial septal defect, Tetralogy of Fallot, Patent ductus arte... OMIM:612562
Hypermethioninemia Due To Adenosine Kinase Deficiency
Prolonged prothrombin time, Pulmonic stenosis, Coarctation of aorta, Secundum atrial septal defec... OMIM:614300
Mucopolysaccharidosis Type 2, Attenuated Form
Diaphyseal undertubulation, Abnormal tricuspid valve morphology, Abnormal heart valve morphology,... ORPHA:217093
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Vascular dilatation, Camptodactyly, Slender finger, Pulmonic stenosis, Aortic dissection, Long fi... OMIM:618343
Ellis Van Creveld Syndrome
Situs inversus totalis, Atrioventricular canal defect, Emphysema, Dextrocardia, Genu valgum, Abno... ORPHA:289
Trigonocephaly With Short Stature And Developmental Delay
Ventricular septal defect OMIM:314320
Microphthalmia, Syndromic 2
Dextrocardia, Hypoplastic aortic arch, Aortic valve stenosis, Pulmonic stenosis, Mitral valve pro... OMIM:300166
Viss Syndrome
Pulmonary artery aneurysm, Iliac artery aneurysm, Arterial tortuosity, Tortuous cerebral arteries... OMIM:619472
Intellectual Developmental Disorder, Autosomal Dominant 48
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus OMIM:617751
Relapsing Polychondritis
Myocarditis, Abnormal endocardium morphology, Large vessel vasculitis, Abnormal aortic valve morp... ORPHA:728
Tetraamelia Syndrome 2
Hypoplastic pulmonary veins, Ventricular septal defect OMIM:618021
Meester-Loeys Syndrome
Pulmonary artery aneurysm, Broad distal phalanx of finger, Dilatation of the cerebral artery, Aor... OMIM:300989
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Ventricular septal defect ORPHA:3369
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Palmar telangiectasia, Palpebral edema, Nonimmune hydrops fetalis, Predominantly lower limb lymph... OMIM:607823
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Patent foramen ovale, Patent ductus arteriosus, Bicuspid aortic valve, Atrial septal defect, Vent... ORPHA:329224
Teebi Hypertelorism Syndrome 1
Aortic root aneurysm, Atrial septal defect, Ventricular septal defect OMIM:145420
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Ventricular septal defect, Hypoplastic left heart ORPHA:2772
Niemann-Pick Disease Type C
Hydrops fetalis, Foam cells, Bone-marrow foam cells, Ascites, Aspiration pneumonia, Abnormal lung... ORPHA:646
Mucopolysaccharidosis Type 2
Abnormal tricuspid valve morphology, Hip osteoarthritis, Flexion contracture of digit, Abnormal h... ORPHA:580
Thoracoabdominal Syndrome
Ectopia cordis, Transposition of the great arteries, Patent ductus arteriosus OMIM:313850
Ververi-Brady Syndrome
Transposition of the great arteries OMIM:617982
Autoimmune Lymphoproliferative Syndrome
Abnormal bleeding, Hydrops fetalis, Vasculitis, Arthritis, Pulmonary fibrosis, Bruising susceptib... ORPHA:3261
Congenital Disorder Of Glycosylation, Type It
Prolonged prothrombin time, Tachycardia, Pulmonary arterial hypertension, Aborted sudden cardiac ... OMIM:614921
3C Syndrome
Atrioventricular canal defect, Abnormal tricuspid valve morphology, Pulmonic stenosis, Abnormal m... ORPHA:7
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Conotruncal defect ORPHA:40366
Thakker-Donnai Syndrome
Ventricular septal defect, Transposition of the great arteries, Tetralogy of Fallot ORPHA:1780
Kleefstra Syndrome Due To 9Q34 Microdeletion
Aortic valve stenosis, Coarctation of aorta, Tetralogy of Fallot, Conotruncal defect, Abnormal ca... ORPHA:96147
Contractural Arachnodactyly, Congenital
Aortic root aneurysm, Mitral valve prolapse, Patent ductus arteriosus, Bicuspid aortic valve, Atr... OMIM:121050
2Q37 Microdeletion Syndrome
Congenital diaphragmatic hernia, Clinodactyly of the 5th finger, Tracheomalacia, Finger syndactyl... ORPHA:1001
Autosomal Dominant Cutis Laxa
Osteopenia, Congestive heart failure, Emphysema, Aortic regurgitation, Joint hypermobility, Aorti... ORPHA:90348
Myhre Syndrome
Radial deviation of finger, Hypoplastic iliac wing, Hypertension, Short long bone, Aortic valve s... OMIM:139210
Intellectual Developmental Disorder, X-Linked 112
Bicuspid aortic valve, Right aortic arch, Abnormal heart morphology OMIM:301111
Fg Syndrome Type 1
Abnormal thumb morphology, Clinodactyly of the 2nd finger, Finger syndactyly, Broad toe, Limited ... ORPHA:93932
Osteogenesis Imperfecta
Abnormal femur morphology, Reduced bone mineral density, Abnormal hip bone morphology, Dislocated... ORPHA:666
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect OMIM:214300
Pearson Syndrome
Hydrops fetalis, Corneal stromal edema, Cardiomyopathy, Dehydration, Abnormal heart morphology, C... ORPHA:699
Autosomal Recessive Robinow Syndrome
Abnormal tricuspid valve morphology, Abnormal hip bone morphology, Recurrent respiratory infectio... ORPHA:1507
Pentalogy Of Cantrell
Abnormal pericardium morphology, Atrial septal defect, Ventricular septal defect, Tetralogy of Fa... ORPHA:1335
Woods Syndrome
Ventricular septal defect OMIM:615236
Char Syndrome
Ventricular septal defect, Patent ductus arteriosus ORPHA:46627
Kleefstra Syndrome
Tracheomalacia, Limitation of joint mobility, Pulmonary artery stenosis, Coarctation of aorta, Te... ORPHA:261494
Diamond-Blackfan Anemia 12
Ventricular septal defect OMIM:615550
Cocaine Intoxication
Pneumothorax, Pulmonary edema, Ischemic stroke, Prolonged QT interval, Supraventricular arrhythmi... ORPHA:90068
Meier-Gorlin Syndrome 1
Breech presentation, Absent sternal ossification, Short ribs, Joint hypermobility, Genu varum, Co... OMIM:224690
Bent Bone Dysplasia Syndrome 2
Osteopenia, Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Short tibia, Short ribs, Femoral... OMIM:620076
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Ventricular septal defect, Dextrocardia OMIM:616037
Cat Eye Syndrome
Tricuspid atresia, Total anomalous pulmonary venous return, Pulmonic stenosis, Tetralogy of Fallo... OMIM:115470
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus ORPHA:2519
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Dextrocardia, Coarctation of aorta, Atrial septal defect, Ventricular septal d... OMIM:264480
Chromosome 6Pter-P24 Deletion Syndrome
Patent foramen ovale, Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Ventri... OMIM:612582
Whim Syndrome
Atelectasis, Bronchiectasis, Recurrent pneumonia, Tetralogy of Fallot, Respiratory tract infectio... ORPHA:51636
Developmental And Epileptic Encephalopathy 66
Atrial septal defect, Ventricular septal defect, Dextrocardia OMIM:618067
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventricular septal defect OMIM:602501
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ventricular septal defect OMIM:613730
Trisomy X
Atrial septal defect, Ventricular septal defect ORPHA:3375
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Patent ductus arteriosus OMIM:618870
Atelis Syndrome 1
Atrial septal defect, Ventricular septal defect OMIM:620184
Kawasaki Disease
Myocarditis, Vasculitis, Ascending tubular aorta aneurysm, Abnormal heart valve morphology, Doubl... ORPHA:2331
3P25.3 Microdeletion Syndrome
Coronary artery atherosclerosis, Pulmonic stenosis, Patent ductus arteriosus, Atrial septal defec... ORPHA:435638
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Small proximal tibial epiphyses, Broad distal phalanx of finger, Abnormal aortic arch morphology,... ORPHA:96334
Kabuki Syndrome 2
Atrioventricular canal defect, Prominent fingertip pads, Pulmonic stenosis, Coarctation of aorta,... OMIM:300867
Seckel Syndrome 9
Atrial septal defect, Ventricular septal defect, Pulmonary artery hypoplasia OMIM:616777
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Ventricular septal defect, Patent ductus arteriosus ORPHA:52055
Septopreoptic Holoprosencephaly
Coarctation of aorta, Abnormal rib morphology ORPHA:280195
Cardiospondylocarpofacial Syndrome
Muscular ventricular septal defect, Hypoplastic aortic arch, Patent foramen ovale, Dysplastic tri... OMIM:157800
Lowry-Maclean Syndrome
Congenital diaphragmatic hernia, Osteopenia, Atrioventricular canal defect, Osteoporosis, Coarcta... ORPHA:2409
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ventricular septal defect ORPHA:93267
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Coarctation of aorta, Atrioventricular canal defect, Dextrocardia, Tricuspid regurgitation OMIM:618929
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Ventricular septal defect, Hypertrophic cardiomyopathy, Patent ductus arteriosus OMIM:612938
Ritscher-Schinzel Syndrome 2
Atrial septal defect, Ventricular septal defect, Pulmonary artery hypoplasia, Patent ductus arter... OMIM:300963
Gaucher Disease, Type Ii
Double aortic arch OMIM:230900
Phace Syndrome
Abnormal carotid artery morphology, Aortic root aneurysm, Coarctation of aorta, Abnormal heart mo... ORPHA:42775
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Decreased fetal movement, Osteopenia, Polyhydramnios, Tricuspid regurgitation, Aortic rupture, Sk... OMIM:614557
Mckusick-Kaufman Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect, H... ORPHA:2473
Encephalocraniocutaneous Lipomatosis
Atrial septal defect, Ventricular septal defect, Peripheral pulmonary artery stenosis, Subvalvula... OMIM:613001
Sarcoidosis, Susceptibility To, 1
Abnormal pulmonary interstitial morphology, Emphysema, Bone cyst, Arthritis, Clubbing, Pleural ef... OMIM:181000
Fanconi Anemia
Abnormal carotid artery morphology, Abnormal femur morphology, Arteriovenous malformation, Reduce... ORPHA:84
Jansen-De Vries Syndrome
Bicuspid aortic valve, Ventricular septal defect OMIM:617450
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Ventricular septal defect OMIM:607598
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Ventricular septal defect, Patent ductus arteriosus ORPHA:77298
Carpenter Syndrome 1
Transposition of the great arteries, Pulmonic stenosis, Tetralogy of Fallot, Patent ductus arteri... OMIM:201000
Lambotte Syndrome
Ventricular septal defect OMIM:245552
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hypoplastic aortic arch ORPHA:457284
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Osteopenia, Emphysema, Portal hypertension, Pulmonary fibrosis OMIM:620365
Polysyndactyly With Cardiac Malformation
Atrial septal defect, Ventricular septal defect OMIM:263630
Oculoauriculofrontonasal Syndrome
Ventricular septal defect ORPHA:398156
Ctcf-Related Neurodevelopmental Disorder
Osteopenia, Fetal distress, Clinodactyly of the 5th finger, Recurrent lower respiratory tract inf... ORPHA:363611
Orofaciodigital Syndrome Vi
Fibular aplasia, Radial deviation of finger, 11 pairs of ribs, Tibial bowing, Postaxial hand poly... OMIM:277170
Desbuquois Syndrome
Ventricular septal defect ORPHA:1425
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Atrial septal defect, Ascending tubular aorta aneurysm, Ventricular septal defect OMIM:309520
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:220500
Esophageal Atresia
Polyhydramnios, Bronchitis, Laryngotracheomalacia, Coarctation of aorta, Pulmonary hypoplasia, Te... ORPHA:1199
Recombinant 8 Syndrome
Pulmonary artery stenosis, Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, V... ORPHA:96167
Kagami-Ogata Syndrome
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:608149
Neurodevelopmental Disorder With Language Delay And Seizures
Ventricular septal defect OMIM:619908
Crimean-Congo Hemorrhagic Fever
Hematemesis, Spontaneous hematomas, Bradycardia, Hypertension, Ascites, Epistaxis, Diffuse alveol... ORPHA:99827
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect OMIM:609654
Netherton Syndrome
Recurrent respiratory infections, Emphysema, Dehydration ORPHA:634
Holt-Oram Syndrome
Hypoplasia of right ventricle, Abnormal coronary artery origin, Perimembranous ventricular septal... OMIM:142900
Joubert Syndrome 18
Ventricular septal defect OMIM:614815
Anemia, Congenital Dyserythropoietic, Type Ia
Hydrops fetalis, Syndactyly OMIM:224120
Ogden Syndrome
Pulmonary artery stenosis, Ventricular septal defect ORPHA:276432
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Atrioventricular canal defect, Polyhydramnios, Short clavicles, Short ribs, Short long bone, Post... OMIM:617088
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus ORPHA:457193
T-Cell Immunodeficiency With Thymic Aplasia
Bronchiectasis, Recurrent pneumonia, Emphysema, Recurrent bronchopulmonary infections OMIM:242700
Noonan Syndrome 1
Abnormal bleeding, Radial deviation of finger, Chylothorax, Lymphedema, Hypertrophic cardiomyopat... OMIM:163950
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Ventricular septal defect ORPHA:2256
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Pulmonary artery stenosis, Ventricular septal defect OMIM:611812
Microcephaly-Capillary Malformation Syndrome
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Right ventricular hypertrophy OMIM:614261
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Breech presentation, Enlarged metaphyses, Hypertension, Femoral bowing, Bifid first metacarpal, S... OMIM:210710
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect OMIM:618504
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Ventricular septal defect, Intracranial hemorrhage ORPHA:369929
Congenital Disorder Of Glycosylation, Type Iil
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:614576
Tyshchenko Syndrome
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect OMIM:615102
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Ischemic stroke, Transposition of the great arteries, Muscular ventricular septal defect, Hypopla... OMIM:619503
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Transposition of the great arteries, Pulmonic stenosis, Myocardial fibrosis, Atrial septal defect... OMIM:253800
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Abnormal vena cava morphology, Ventricular septal defect ORPHA:166035
Isolated Klippel-Feil Syndrome
Ventricular septal defect ORPHA:2345
X Small Rings
Aortic root aneurysm, Bicuspid aortic valve, Mitral stenosis, Ventricular septal defect ORPHA:96201
Opitz Gbbb Syndrome
Congenital diaphragmatic hernia, Tracheomalacia, Aortic root aneurysm, Patent foramen ovale, Coar... ORPHA:2745
Chromosome 18Q Deletion Syndrome
Dysplastic pulmonary valve, Ascending tubular aorta aneurysm, Absence of the pulmonary valve, Dys... OMIM:601808
Serkal Syndrome
Pulmonic stenosis, Ventricular septal defect ORPHA:139466
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:617061
Burn-Mckeown Syndrome
Atrial septal defect, Ventricular septal defect OMIM:608572
Chromosome 15Q25 Deletion Syndrome
Coronary artery fistula, Ventricular septal defect, Dextrocardia, Abnormal cardiac septum morphology OMIM:614294
Aase-Smith Syndrome I
Ventricular septal defect OMIM:147800
Common Variable Immunodeficiency
Purpura, Emphysema, Recurrent bronchitis, Vasculitis, Bronchiectasis, Pneumonia, Recurrent respir... ORPHA:1572
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Ventricular septal defect OMIM:601357
Acquired Purpura Fulminans
Prolonged prothrombin time, Macular purpura, Internal hemorrhage, Intracranial hemorrhage, Shock ORPHA:49566
Hepatoerythropoietic Porphyria
Osteopenia, Abnormal bleeding, Osteoporosis, Abnormality of the amniotic fluid, Nonimmune hydrops... ORPHA:95159
Wiskott-Aldrich Syndrome
Hematemesis, Spontaneous hematomas, Purpura, Petechiae, Vasculitis, Hyperostosis, Arthritis, Ging... ORPHA:906
Diamond-Blackfan Anemia 5
Ventricular septal defect OMIM:612528
Holoprosencephaly
Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the lungs, Abnormal aortic morphology, Han... ORPHA:2162
Jacobsen Syndrome
Finger syndactyly, Missing ribs, Aortic valve stenosis, Toe clinodactyly, Hypoplastic left heart,... ORPHA:2308
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Abnormal metaphysis morphology, Absent or minimally ossified vertebral bodies, Hydrops fetalis, A... ORPHA:93271
Kapur-Toriello Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:244300
Toriello-Carey Syndrome
Cardiomyopathy, Pulmonic stenosis, Coarctation of aorta, Tetralogy of Fallot, Brachydactyly, Pate... ORPHA:3338
Developmental Delay With Or Without Dysmorphic Facies And Autism
Congenital diaphragmatic hernia, 2-3 toe cutaneous syndactyly, Clinodactyly of the 5th finger, Pa... OMIM:618454
Loeys-Dietz Syndrome
Abnormal bleeding, Vascular dilatation, Arterial tortuosity, Craniosynostosis, Aortic aneurysm, C... ORPHA:60030
Donnai-Barrow Syndrome
Ventricular septal defect ORPHA:2143
Oculoectodermal Syndrome
Lymphedema, Transient ischemic attack, Hypertrophic cardiomyopathy, Coarctation of aorta, Patent ... OMIM:600268
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Abnormal heart morphology, Ventricular septal defect ORPHA:254534
Hellp Syndrome
Prolonged prothrombin time, Pulmonary edema, Pleural effusion, Hypotension, Internal hemorrhage, ... ORPHA:244242
Lateral Meningocele Syndrome
Bicuspid aortic valve, Aortic aneurysm, Ventricular septal defect, Patent ductus arteriosus OMIM:130720
Alpha-1-Antitrypsin Deficiency
Bronchiectasis, Bronchitis, Emphysema ORPHA:60
Brachydactyly, Type B1
Ventricular septal defect OMIM:113000
Rajab Interstitial Lung Disease With Brain Calcifications 1
Rickets, Osteopenia, Abnormal pulmonary interstitial morphology, Reduced bone mineral density, Em... OMIM:613658
Rubinstein-Taybi Syndrome 1
Broad distal phalanx of finger, Dislocated radial head, Hypoplastic iliac wing, Prominent fingert... OMIM:180849
Smith-Lemli-Opitz Syndrome
Breech presentation, Proximal placement of thumb, Hypertension, Premature birth, Decreased fetal ... OMIM:270400
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Ventricular septal defect, Patent ductus arteriosus OMIM:300472
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Coronary artery fistula, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:620024
Nocardiosis
Pneumothorax, Emphysema, Pleuritis, Abnormal heart valve morphology, Pleural effusion, Pericardit... ORPHA:31204
Galloway-Mowat Syndrome 3
Hypertension, Camptodactyly, Arachnodactyly, Coarctation of aorta, Edema, Oligohydramnios, Hip di... OMIM:617729
Intellectual Developmental Disorder, Autosomal Dominant 47
Ventricular septal defect OMIM:617635
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Pulmonic stenosis, Aortic valve stenosis, Coarctation of aorta, Abnormal heart morphology, Vascul... ORPHA:353281
Braddock-Carey Syndrome 1
Ventricular septal defect, Aortic valve prolapse OMIM:619980
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion
Atrial septal defect, Ventricular septal defect ORPHA:261190
Congenital Disorder Of Glycosylation, Type Iiaa
Patent ductus arteriosus after premature birth, Ventricular septal defect OMIM:620454
Gabriele-De Vries Syndrome
Sandal gap, Facial hypotonia, Patent foramen ovale, Long fingers, Distal arthrogryposis, Aortopul... OMIM:617557
Pallister-Hall Syndrome
Preductal coarctation of the aorta, Ventricular septal defect, Patent ductus arteriosus OMIM:146510
17Q11 Microdeletion Syndrome
Rhabdomyosarcoma, Hypertension, Pulmonic stenosis, Abnormal heart morphology, Cerebral artery ste... ORPHA:97685
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Atelectasis, Ventricular hypertrophy, Pulmonary fibrosis, Cardiomegaly, Recurrent respiratory inf... OMIM:618278
Malignant Migrating Focal Seizures Of Infancy
Aortopulmonary collateral arteries ORPHA:293181
Chromosome 9P Deletion Syndrome
Atrial septal defect, Perimembranous ventricular septal defect, Ventricular septal defect, Patent... OMIM:158170
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Patent foramen ovale, Biventricular hypertrophy, Ventricular septal defect, Left ventricular hype... OMIM:615474
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Cervical ribs, Ischemic stroke, Fetal distress, Hyperextensible hand joints, Emphysema, Slender l... ORPHA:500150
Turner Syndrome Due To Structural X Chromosome Anomalies
Reduced bone mineral density, Prolonged QT interval, Hypertension, Arterial dissection, Abnormal ... ORPHA:99413
Mosaic Monosomy X
Reduced bone mineral density, Prolonged QT interval, Hypertension, Arterial dissection, Abnormal ... ORPHA:99228
Monosomy X
Reduced bone mineral density, Prolonged QT interval, Hypertension, Arterial dissection, Abnormal ... ORPHA:99226
Turner Syndrome
Reduced bone mineral density, Prolonged QT interval, Hypertension, Arterial dissection, Abnormal ... ORPHA:881
Immunodeficiency 89 And Autoimmunity
Bronchiectasis, Pleural thickening, Recurrent lower respiratory tract infections, Pulmonary bulla OMIM:619632
Noonan Syndrome 3
Tricuspid valve prolapse, Patent foramen ovale, Hypertrophic cardiomyopathy, Pulmonic stenosis, M... OMIM:609942
Meckel Syndrome, Type 1
Single umbilical artery, Large placenta, Radial deviation of finger, Vascular dilatation, Breech ... OMIM:249000
Orofaciodigital Syndrome V
Ventricular septal defect, Tetralogy of Fallot OMIM:174300
Diamond-Blackfan Anemia 1
Congestive heart failure, Hypoplasia of the radius, Triphalangeal thumb, 11 pairs of ribs, Tricus... OMIM:105650
Adams-Oliver Syndrome 1
Pulmonary artery stenosis, Aortic valve stenosis, Pulmonic stenosis, Tetralogy of Fallot, Bicuspi... OMIM:100300
Tatton-Brown-Rahman Syndrome
Atrial septal defect, Ventricular septal defect OMIM:615879
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Patent foramen ovale, Right atrial enlargement, Pericardial effusion, Myocardial fibrosis, Myofib... OMIM:620519
Pyruvate Kinase Deficiency Of Red Cells
Nonimmune hydrops fetalis OMIM:266200
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Ventricular septal defect OMIM:616730
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Widened distal phalanges, Abnormal subclavian artery morphology, Broad distal phalanx of finger, ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Widened distal phalanges, Abnormal subclavian artery morphology, Broad distal phalanx of finger, ... ORPHA:353277
Koolen-De Vries Syndrome
Aortic root aneurysm, Pulmonic stenosis, Patent ductus arteriosus, Bicuspid aortic valve, Atrial ... OMIM:610443
Loeys-Dietz Syndrome 5
Aortic root aneurysm, Patent foramen ovale, Ascending aortic dissection, Atrial septal defect, Ve... OMIM:615582
Robinow Syndrome
Fused thoracic vertebrae, Pulmonary valve atresia, Tricuspid atresia, Missing ribs, Pulmonic sten... ORPHA:97360
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hydrops fetalis, Polyhydramnios, Fetal polyuria, Premature birth, Edema OMIM:602522
Chops Syndrome
Patent foramen ovale, Anomalous pulmonary venous return, Ventricular septal defect, Patent ductus... OMIM:616368
Alagille Syndrome
Atrial septal defect, Ventricular septal defect, Peripheral pulmonary artery stenosis ORPHA:52
Intellectual Developmental Disorder, X-Linked, Syndromic 35
Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect, Dilation of Virchow-R... OMIM:300998
Hemorrhagic Fever-Renal Syndrome
Hematemesis, Pulmonary edema, Melena, Tachycardia, Petechiae, Capillary leak, Hypertension, Pleur... ORPHA:340
Schimmelpenning-Feuerstein-Mims Syndrome
Osteopenia, Hypophosphatemic rickets, Abnormal finger morphology, Coarctation of aorta, Abnormal ... OMIM:163200
Hardikar Syndrome
Hematemesis, Patent ductus arteriosus, Patent foramen ovale, Hypertension, Portal hypertension, O... OMIM:301068
Pearson Marrow-Pancreas Syndrome
Hydrops fetalis, Dehydration OMIM:557000
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Aortic root aneurysm, Ventricular hypertrophy, Pulmonic stenosis, Patent ductus arteriosus, Bicus... OMIM:620654
Sotos Syndrome
Atrial septal defect, Muscular ventricular septal defect, Ventricular septal defect, Patent ductu... OMIM:117550
Congenital Erythropoietic Porphyria
Osteopenia, Abnormal bleeding, Osteoporosis, Abnormality of the amniotic fluid, Nonimmune hydrops... ORPHA:79277
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Right aortic arch, Ventricular septal defect ORPHA:513456
Alzahrani-Kuwahara Syndrome
Patent foramen ovale, Coronary sinus enlargement, Persistent left superior vena cava, Atrial sept... OMIM:619268
Diamond-Blackfan Anemia 10
Ventricular septal defect, Patent ductus arteriosus OMIM:613309
Simpson-Golabi-Behmel Syndrome, Type 1
Congenital diaphragmatic hernia, Narrow greater sciatic notch, Short greater sciatic notch, Short... OMIM:312870
Cooper-Jabs Syndrome
Ventricular septal defect ORPHA:1488
Vascular Ehlers-Danlos Syndrome
Pulmonary artery aneurysm, Arteriovenous fistulas of celiac and mesenteric vessels, Arteriovenous... ORPHA:286
Joubert Syndrome 14
Ventricular septal defect, Intracranial hemorrhage OMIM:614424
Histiocytosis-Lymphadenopathy Plus Syndrome
Atrial septal defect, Pulmonic stenosis, Mitral valve prolapse, Patent ductus arteriosus, Cardiom... OMIM:602782
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Thyroid lymphangiectasia, Pancreatic lymphangiectasis, Ventricular septal defect, Pulmonary lymph... OMIM:235255
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Atrioventricular canal defect, Ascending tubular aorta aneurysm, Abnormal heart morphology, Bicus... ORPHA:453499
Meckel Syndrome, Type 4
Atrial septal defect, Ventricular septal defect OMIM:611134
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Right ventricular hypertrophy OMIM:208085
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Alport Syndrome
Renal glomerular foam cells, Aortic aneurysm, Recurrent bronchitis, Hypertension, Abnormal aortic... ORPHA:63
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Ventricular septal defect OMIM:616901
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Coarctation of aorta, Mitral stenosis, Patent ductus arteriosus OMIM:617260
Hereditary Elliptocytosis
Hydrops fetalis ORPHA:288
Fanconi Anemia, Complementation Group I
Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:609053
Syndromic Diarrhea
Abnormal heart morphology, Tetralogy of Fallot, Patent ductus arteriosus, Bicuspid aortic valve, ... ORPHA:84064
Weill-Marchesani Syndrome 1
Pulmonic stenosis, Ventricular septal defect, Aortic valve stenosis, Patent ductus arteriosus OMIM:277600
Brachytelephalangic Chondrodysplasia Punctata
Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus ORPHA:79345
Meier-Gorlin Syndrome 4
Patellar aplasia, Emphysema, Slender long bone OMIM:613804
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Ventricular septal defect, Right ventricular hypertrophy OMIM:613404
Kaufman Oculocerebrofacial Syndrome
Clinodactyly of the 5th finger, Congenital hip dislocation, Metatarsus adductus, Coarctation of a... OMIM:244450
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Ventricular septal defect OMIM:617895
Noonan Syndrome 4
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Hypertrophic cardiomyopathy OMIM:610733
Alagille Syndrome 1
Hypoplasia of the ulna, Stroke, Renal artery stenosis, Abnormal rib morphology, Coarctation of ao... OMIM:118450
Coffin-Siris Syndrome 4
Pulmonary artery atresia, Mitral atresia, Pulmonic stenosis, Patent ductus arteriosus, Atrial sep... OMIM:614609
Floating-Harbor Syndrome
Mesocardia, Ivory epiphyses of the distal phalanges of the hand, Clinodactyly of the 5th finger, ... OMIM:136140
C Syndrome
Ventricular septal defect, Patent ductus arteriosus OMIM:211750
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Patent foramen ovale, Abnormal heart morphology, Bicuspid aortic valve, Atrial septal defect, Ven... ORPHA:457279
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Pulmonary edema, Fetal distress, Aortic valve atresia, Hypertension, Hypertrophic cardiomyopathy,... OMIM:220111
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Ventricular septal defect OMIM:618348
Pallister-Hall Syndrome
Mesoaxial polydactyly, Oligodactyly, Broad thumb, Polydactyly affecting the 3rd finger, Overlappi... ORPHA:672
Chime Syndrome
Ventricular septal defect, Pulmonary valve atresia, Transposition of the great arteries, Tetralog... ORPHA:3474
Igg4-Related Kidney Disease
Arteritis, Pleuritis, Abnormal aortic morphology, Pericarditis, Abnormal lung morphology, Interst... ORPHA:449395
Orotic Aciduria
Atrial septal defect, Ventricular septal defect OMIM:258900
Proteus Syndrome
Macrodactyly, Bronchogenic cyst, Arteriovenous malformation, Abnormal finger morphology, Calvaria... ORPHA:744
Cardiofacioneurodevelopmental Syndrome
Pulmonic stenosis, Atrioventricular canal defect, Ventricular septal defect OMIM:619123
Cerebellar-Facial-Dental Syndrome
Ascending tubular aorta aneurysm, Ventricular septal defect, Mitral valve prolapse ORPHA:444072
Robinow Syndrome, Autosomal Dominant 3
Patent foramen ovale, Pulmonary artery atresia, Patent ductus arteriosus, Hypoplastic right heart... OMIM:616894
Oculocerebrorenal Syndrome Of Lowe
Abnormal metaphysis morphology, Genu valgum, Atelectasis, Arthritis, Osteomalacia, Dehydration, A... ORPHA:534
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Pulmonic stenosis, Patent ductus arteriosus, Bicuspid aortic valve, Atrial septal defect, Ventric... OMIM:610759
Weill-Marchesani Syndrome 2
Pulmonic stenosis, Aortic valve stenosis, Ascending aortic dissection, Patent ductus arteriosus, ... OMIM:608328
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Ventricular septal defect ORPHA:1770
Biliary, Renal, Neurologic, And Skeletal Syndrome
Situs inversus totalis, Atrioventricular canal defect, Inlet ventricular septal defect, Dextrocar... OMIM:619534
Dysosteosclerosis
Ventricular septal defect ORPHA:1782
Sarcoidosis
Pneumothorax, Heart block, Emphysema, Chylothorax, Abnormal cardiac ventricular function, Abnorma... ORPHA:797
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrial septal defect, Patent foramen ovale, Pericardial effusion, Dilated cardiomyopathy, Ventric... ORPHA:26793
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Pulmonary hypoplasia, Knee flexion contracture, Bronchiectasis, Interstitial emphysema, Overlappi... OMIM:619708
Meier-Gorlin Syndrome 6
Emphysema, Sandal gap, Tracheobronchomalacia, Short middle phalanx of finger, Patellar aplasia, H... OMIM:616835
Doors Syndrome
Double outlet right ventricle ORPHA:79500
Granulomatous Disease, Chronic, X-Linked
Pleural effusion, Recurrent pneumonia, Atelectasis, Ascites OMIM:306400
Superficial Siderosis
Abnormal bleeding, Arteriovenous malformation, Abnormal vertebral artery morphology, Internal hem... ORPHA:247245
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:620558
Basel-Vanagaite-Smirin-Yosef Syndrome
Atrial septal defect, Left superior vena cava draining to coronary sinus, Ventricular septal defect ORPHA:464738
Down Syndrome
Ventricular septal defect, Atrioventricular canal defect, Secundum atrial septal defect, Tetralog... ORPHA:870
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Pancreatic lymphangiectasis, Ventricular septal defect, Pulmonary lymphangiectasia ORPHA:1655
Tuberous Sclerosis Complex
Cardiac rhabdomyoma, Aortic aneurysm, Hypertension, Internal hemorrhage, Respiratory tract infect... ORPHA:805
Chromosome 14Q11-Q22 Deletion Syndrome
Patent foramen ovale, Ventricular septal defect, Patent ductus arteriosus OMIM:613457
Mandibulofacial Dysostosis, Guion-Almeida Type
Atrial septal defect, Ventricular septal defect OMIM:610536
Van Esch-O'Driscoll Syndrome
Pulmonary artery stenosis, Pulmonary valve atresia, Atrial septal defect, Ventricular septal defect OMIM:301030
Duane-Radial Ray Syndrome
Atrial septal defect, Ventricular septal defect, Vascular dilatation OMIM:607323
Mullegama-Klein-Martinez Syndrome
Congenital diaphragmatic hernia, Polydactyly, Clinodactyly of the 5th finger, Facial palsy, Coarc... OMIM:301022
Zimmermann-Laband Syndrome 1
Aortic root aneurysm, Cardiomyopathy, Aortic arch aneurysm, Patent ductus arteriosus OMIM:135500
Marburg Hemorrhagic Fever
Prolonged prothrombin time, Abnormal bleeding, Bradycardia, Petechiae, Capillary leak, Arthritis,... ORPHA:99826
Coffin-Siris Syndrome
Abnormal heart morphology, Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, V... ORPHA:1465
Distal Deletion 19P
Pulmonary valve atresia, Tricuspid valve prolapse, Ventricular septal defect ORPHA:96129
Specc1L-Related Hypertelorism Syndrome
Atrial septal defect, Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus ORPHA:1519
Larsen Syndrome
Atrial septal defect, Ventricular septal defect, Aortic aneurysm OMIM:150250
Diets-Jongmans Syndrome
Ventricular septal defect, Interrupted inferior vena cava with azygous continuation OMIM:618846
Kabuki Syndrome
Congenital diaphragmatic hernia, Abnormal cardiac septum morphology, Coarctation of aorta, Short ... ORPHA:2322
Trichothiodystrophy 4, Nonphotosensitive
Ventricular septal defect OMIM:234050
Distal Duplication 5Q
Ventricular septal defect, Dextrocardia ORPHA:96097
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Ventricular septal defect, Patent ductus arteriosus OMIM:106260
Tetrasomy 9P
Dextrocardia, Juxtaductal coarctation of the aorta, Patent foramen ovale, Abnormal mitral valve m... ORPHA:3310
7Q11.23 Microduplication Syndrome
Aortic aneurysm, Aortic valve stenosis, Patent ductus arteriosus, Atrial septal defect, Ventricul... ORPHA:96121
Trichohepatoenteric Syndrome 1
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot OMIM:222470
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:619575
Nicolaides-Baraitser Syndrome
Broad distal phalanx of finger, Short metatarsal, Sandal gap, Long toe, Broad 2nd toe, Hallux val... OMIM:601358
Floating-Harbor Syndrome
Mesocardia, 11 pairs of ribs, Dislocated radial head, Short clavicles, Short metacarpal, Coarctat... ORPHA:2044
Paternal Uniparental Disomy Of Chromosome 6
Cardiomegaly, Ventricular septal defect, Patent ductus arteriosus ORPHA:96191
Kabuki Syndrome 1
Prominent fingertip pads, Congenital hip dislocation, Coarctation of aorta, Recurrent aspiration ... OMIM:147920
Cornelia De Lange Syndrome 6
Ventricular septal defect, Atrioventricular canal defect, Pulmonary artery atresia OMIM:620568
Vater/Vacterl Association
Ventricular septal defect, Transposition of the great arteries, Tetralogy of Fallot, Patent ductu... OMIM:192350
Thauvin-Robinet-Faivre Syndrome
Varicose veins, Ventricular septal defect, Mitral valve prolapse OMIM:617107
3Mc Syndrome 1
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:257920
Craniofacial Microsomia 1
Right aortic arch, Coarctation of aorta, Tetralogy of Fallot, Patent ductus arteriosus, Ventricul... OMIM:164210
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Unilateral facial palsy, Atrioventricular canal defect, Torticollis, Coarctation of aorta, Patent... OMIM:619480
Craniorachischisis
Congenital diaphragmatic hernia, Bifid sternum ORPHA:63260
Eisenmenger Syndrome
Atrioventricular canal defect, Bacterial endocarditis, Stroke, Aortopulmonary window, Abnormal he... ORPHA:97214
16P13.11 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:261236
Brain-Lung-Thyroid Syndrome
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Abnormal cardiac septum mo... ORPHA:209905
Hand-Foot-Genital Syndrome
Ventricular septal defect ORPHA:2438
Pallister-Killian Syndrome
Congenital diaphragmatic hernia, Aortic valve stenosis, Edema of the dorsum of feet, Hip dislocat... OMIM:601803
Fanconi Anemia, Complementation Group N
Atrial septal defect, Ventricular septal defect OMIM:610832
45,X/46,Xy Mixed Gonadal Dysgenesis
Short 4th metacarpal, Prolonged QT interval, Short metatarsal, Tachycardia, Coarctation of aorta,... ORPHA:1772
3Q29 Microduplication Syndrome
Ventricular septal defect ORPHA:251038
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Aortic aneurysm, Abnormal heart morphology, Bicuspid aortic valve, Atrial septal defect, Ventricu... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Aortic aneurysm, Abnormal heart morphology, Bicuspid aortic valve, Atrial septal defect, Ventricu... ORPHA:352665
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic valve stenosis, Ventricular septal defect, Patent ductus arteriosus ORPHA:464311
Microphthalmia, Syndromic 3
Ventricular septal defect, Patent ductus arteriosus OMIM:206900
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Varicose veins, Mitral valve prolapse, Ventricular septal defect, Abnormal right ventricle morpho... ORPHA:500095
Acrofacial Dysostosis 1, Nager Type
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus OMIM:154400
Omodysplasia 1
Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect OMIM:258315
Cerebellofaciodental Syndrome
Ventricular septal defect, Mitral valve prolapse OMIM:616202
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Atrial septal defect, Atrioventricular canal defect, Ventricular septal defect, Patent ductus art... ORPHA:3047
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Aortic root aneurysm, Patent foramen ovale, Abnormal heart morphology, Patent ductus arteriosus, ... ORPHA:444077
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Ventricular septal defect OMIM:615503
Sotos Syndrome
Ankle flexion contracture, Small cell lung carcinoma, Aortic aneurysm, Bilateral camptodactyly, 2... ORPHA:821
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal hypertrophy, Ventricular septal defect OMIM:614947
Chromosome 16P13.3 Duplication Syndrome
Atrial septal defect, Ventricular septal defect, Tetralogy of Fallot OMIM:613458
Histiocytoid Cardiomyopathy
Cardiomegaly, Stroke-like episode, Ventricular septal defect ORPHA:137675
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Ventricular septal defect, Cerebral hemorrhage, Patent ductus arteriosus OMIM:616682
Renpenning Syndrome 1
Situs inversus totalis, Atrial septal defect, Ventricular septal defect, Tetralogy of Fallot OMIM:309500
Codas Syndrome
Atrial septal defect, Atrioventricular canal defect, Ventricular septal defect OMIM:600373
Coffin-Lowry Syndrome
Bifid sternum, Hyperextensibility of the finger joints, Narrow iliac wing, Short metacarpal, Drum... OMIM:303600
Restrictive Dermopathy
Transposition of the great arteries, Dextrocardia, Ascending tubular aorta aneurysm, Patent ductu... ORPHA:1662
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Abnormal left ventricle morphology, Patent ductus arteriosus, Patent foramen ovale, Ebstein anoma... ORPHA:466791
Renal Agenesis
Ventricular septal defect ORPHA:411709
Distal 22Q11.2 Microduplication Syndrome
Tricuspid valve prolapse, Ventricular septal defect, Patent ductus arteriosus ORPHA:261337
1P36 Deletion Syndrome
Abnormal heart valve morphology, Aortic arch aneurysm, Tetralogy of Fallot, Patent ductus arterio... ORPHA:1606
Chand Syndrome
Short fifth metatarsal, Atelectasis ORPHA:1401
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect, Dilatation of the ven... ORPHA:459070
Hajdu-Cheney Syndrome
Ventricular septal defect, Patent ductus arteriosus OMIM:102500
Acrofacial Dysostosis, Cincinnati Type
Biventricular hypertrophy, Pulmonary artery aneurysm, Anomalous origin of right coronary artery f... OMIM:616462
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Pulmonic stenosis, Aortic valve stenosis, Hyphema, Abnormal heart morphology, Arachnodactyly, Syn... ORPHA:261552
Neu-Laxova Syndrome 1
Patent foramen ovale, Transposition of the great arteries, Ventricular septal defect, Patent duct... OMIM:256520
Cerebrocostomandibular Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:117650
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Atrial septal defect, Ventricular septal defect, Partial anomalous pulmonary venous return OMIM:301044
Chromosome 1P36 Deletion Syndrome, Distal
Atrial septal defect, Aortic root aneurysm, Noncompaction cardiomyopathy, Patent foramen ovale, E... OMIM:607872
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Patent foramen ovale, Anomalous origin of left subclavian artery, Pulmonic stenosis, Abnormal hea... ORPHA:438213
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Pulmonic stenosis, Aortic valve stenosis, Arachnodactyly, Abnormal heart morphology, Syndactyly, ... ORPHA:261537
Mowat-Wilson Syndrome
Pulmonary artery stenosis, Pulmonic stenosis, Abnormal heart morphology, Patent ductus arteriosus... OMIM:235730
Congenital Disorder Of Glycosylation, Type Iiw
Ventricular septal defect, Tetralogy of Fallot OMIM:619525
Mosaic Trisomy 20
Abnormal mitral valve morphology, Ventricular septal defect, Dysplastic tricuspid valve ORPHA:1724
Carpenter Syndrome 2
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Patent ductus arterios... OMIM:614976
Costello Syndrome
Lymphangiectasis, Hypertrophic cardiomyopathy, Pulmonic stenosis, Mitral valve prolapse, Atrial s... OMIM:218040
Mowat-Wilson Syndrome
Genu valgum, Patent ductus arteriosus, Hallux valgus, Recurrent fractures, Calcaneovalgus deformi... ORPHA:2152
Orofaciodigital Syndrome Type 14
Ventricular septal defect, Patent ductus arteriosus ORPHA:434179
Cerebrocostomandibular Syndrome
Ventricular septal defect ORPHA:1393
Orofaciodigital Syndrome Xiv
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:615948
Okamoto Syndrome
Abnormal left ventricle morphology, Primum atrial septal defect, Aortic valve stenosis, Abnormal ... ORPHA:2729
Williams-Beuren Syndrome
Myxomatous mitral valve degeneration, Stroke, Renal artery stenosis, Ventricular septal defect, C... OMIM:194050
Liver Disease, Severe Congenital
Left atrial enlargement, Patent foramen ovale, Dilatation of the ventricular cavity, Patent ductu... OMIM:619991
Proboscis Lateralis
Ventricular septal defect, Patent ductus arteriosus ORPHA:141099
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Patent foramen ovale, Hypertrophic cardiomyopathy, Pulmonic stenosis, Abnormal heart morphology, ... ORPHA:363700
Combined Immunodeficiency-Enteropathy Spectrum
Ventricular septal defect ORPHA:436252
Limb Body Wall Complex
Ectopia cordis, Atrial septal defect, Abnormal heart morphology, Ventricular septal defect ORPHA:2369
Chromosome 13Q14 Deletion Syndrome
Patent foramen ovale, Ventricular septal defect OMIM:613884
Townes-Brocks Syndrome 1
Atrial septal defect, Ventricular septal defect, Tetralogy of Fallot OMIM:107480
Penile Agenesis
Atrial septal defect, Ventricular septal defect ORPHA:49
Johanson-Blizzard Syndrome
Situs inversus totalis, Atrial septal defect, Vascular dilatation, Dilated cardiomyopathy, Ventri... OMIM:243800

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 Tab1

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 Tab1.

No publications found that use IMPC mice or data for Tab1.

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MGI Allele Allele Type Produced
Tab1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Tab1em1(IMPC)Ccpcz Exon Deletion Mice
Tab1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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