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Gene: Aip MGI:109622

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

aryl-hydrocarbon receptor-interacting protein

Synonyms:

Xap2, Fkbp16, D19Bwg1412e, Ara9

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 Aip mutations

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

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

Human diseases associated with Aip (4 diseases)
Human diseases predicted to be associated with Aip (1117 diseases)

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

Disease	Matching phenotypes	Source
Prolactinoma	Pallor, Hypotension	ORPHA:2965
Pituitary Adenoma 1, Multiple Types	Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul...	OMIM:102200
Pituitary Gigantism	Elevated circulating growth hormone concentration, Increased circulating insulin-like growth fact...	ORPHA:99725
Acromegaly	Palpebral edema, Joint swelling, Hypertension, Mitral regurgitation, Hypertrophic cardiomyopathy	ORPHA:963

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

Disease	Matching phenotypes	Source
Patent Ductus Arteriosus 3	Patent ductus arteriosus	OMIM:617039
Patent Ductus Arteriosus 1	Patent ductus arteriosus	OMIM:607411
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency	Congenital adrenal hyperplasia, Increased circulating ACTH level	OMIM:613571
Patent Ductus Arteriosus 2	Patent ductus arteriosus	OMIM:617035
Pigmented Nodular Adrenocortical Disease, Primary, 3	Increased circulating cortisol level, Adrenal hyperplasia	OMIM:614190
Lipoid Congenital Adrenal Hyperplasia	Congenital adrenal hyperplasia, Adrenogenital syndrome	OMIM:201710
Immune Thrombocytopenia	Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruising suscepti...	ORPHA:3002
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, Abnormal left ventricula...	ORPHA:91387
Fallot Complex With Severe Mental And Growth Retardation	Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	OMIM:601127
Hyperaldosteronism, Familial, Type I	Adrenal hyperplasia, Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level	OMIM:103900
Cutaneous Collagenous Vasculopathy	Prominent superficial blood vessels, Erythema, Diffuse telangiectasia, Bruising susceptibility, V...	ORPHA:280779
Bleeding Disorder, Platelet-Type, 8	Abnormal bleeding, Epistaxis, Prolonged bleeding after surgery, Ecchymosis, Bruising susceptibili...	OMIM:609821
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality	Striae distensae, Mitral valve prolapse, Atypical scarring of skin, Bruising susceptibility, Pete...	OMIM:225310
Factor Xiii, B Subunit, Deficiency Of	Abnormal bleeding, Prolonged bleeding after surgery, Ecchymosis, Bruising susceptibility, Abnorma...	OMIM:613235
Cayler Cardiofacial Syndrome	Patent ductus arteriosus, Tetralogy of Fallot	OMIM:125520
Fetal And Neonatal Alloimmune Thrombocytopenia	Gastrointestinal hemorrhage, Abnormal bleeding, Subarachnoid hemorrhage, Cephalohematoma, Intracr...	ORPHA:853
Evans Syndrome	Epistaxis, Jaundice, Syncope, Pallor, Bruising susceptibility, Petechiae	ORPHA:1959
Congenital Heart Defects, Multiple Types, 5	Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao...	OMIM:617912
Bleeding Disorder, Platelet-Type, 14	Ecchymosis, Prolonged bleeding time, Epistaxis, Bruising susceptibility	OMIM:614158
Congenital Heart Block	Cyanosis, First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive he...	ORPHA:60041
Factor Xiii, A Subunit, Deficiency Of	Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Spontaneous hematomas, Abnormal umbilical ...	OMIM:613225
Acute Peripheral Arterial Occlusion	Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Stroke, Pallor, Suprave...	ORPHA:90064
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant	Purpura, Warfarin-induced skin necrosis, Pulmonary embolism	OMIM:612336
Congenital Factor Xiii Deficiency	Epistaxis, Cerebral hemorrhage, Prolonged bleeding after dental extraction, Poor wound healing, P...	ORPHA:331
Bleeding Disorder, Platelet-Type, 13, Susceptibility To	Ecchymosis, Bruising susceptibility, Epistaxis	OMIM:614009
Glanzmann Thrombasthenia	Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Prolonged bleeding time, Prolonged...	ORPHA:849
Purpura Simplex	Bruising susceptibility, Menorrhagia, Epistaxis, Purpura	OMIM:179000
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Omphalocele, Atrial flutter, Overriding aorta, Ventricular septal defect, Lymphedema, Patent duct...	OMIM:601927
Glanzmann Thrombasthenia 1	Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Intracrania...	OMIM:273800
Bleeding Disorder, Platelet-Type, 11	Prolonged bleeding time, Epistaxis, Menorrhagia, Ecchymosis, Bruising susceptibility	OMIM:614201
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl...	ORPHA:1686
Partial Atrioventricular Septal Defect	Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt...	ORPHA:1330
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a...	OMIM:613854
Cutaneous Small Vessel Vasculitis	Cutis marmorata, Erythema, Vasculitis, Urticaria, Purpura	ORPHA:889
Portal Hypertension, Noncirrhotic, 2	Epistaxis, Portal hypertension, Ecchymosis, Ascites, Petechiae	OMIM:619463
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive	Vitreous hemorrhage, Purpura, Pulmonary embolism	OMIM:612304
Dengue Fever	Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Bruising susceptibility, Gingival bl...	ORPHA:99828
Snakebite Envenomation	Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Edema, Angioedema, Erythema, In...	ORPHA:449285
Thrombocytopenia 5	Bruising susceptibility, Epistaxis, Petechiae	OMIM:616216
Orthostatic Hypotensive Disorder, Streeten Type	Orthostatic hypotension, Syncope, Bruising susceptibility, Facial erythema	OMIM:143850
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Abnormal cerebral vascular morphology, Pulmonary embolism, Venous insufficiency, Skin ulcer, Subc...	ORPHA:743
Complement Component 4A Deficiency	Cutaneous photosensitivity, Vasculitis, Purpura	OMIM:614380
Congenital Heart Defects, Multiple Types, 4	Ventricular septal defect, Left ventricular outflow tract obstruction, Coarctation of aorta, Hypo...	OMIM:615779
Congenital Sialidosis Type 2	Abnormal EKG, Inguinal hernia, Edema, Telangiectasia, Abnormal heart morphology, Umbilical hernia...	ORPHA:93400
Thrombocytopenia With Beta-Thalassemia, X-Linked	Prolonged bleeding time, Bruising susceptibility, Epistaxis, Petechiae	OMIM:314050
Pseudo-Torch Syndrome 2	Cerebral hemorrhage, Secundum atrial septal defect, Patent ductus arteriosus, Bradycardia, Pleura...	OMIM:617397
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Adrenal hyperplasia, Adrenogenital syndrome	OMIM:201910
Familial Hyperaldosteronism Type Ii	Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ...	ORPHA:404
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Warfarin-induced skin necrosis, Abnormal cerebral vascular morphology, Pulmonary embolism, Venous...	ORPHA:745
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Vasculitis in the skin, Petechiae, Purpura	OMIM:620296
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Bruising susceptibility, Persistent bleeding after trauma, Epistaxis, Petechiae	OMIM:300367
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Cardiac arrest, Congestive heart failure, Paroxysmal atrial tachycardi...	ORPHA:49827
Ovarian Hyperstimulation Syndrome	Generalized edema, Hypovolemia, Capillary leak, Peripheral edema, Pleural effusion, Ascites, Pulm...	ORPHA:64739
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Adrenal hyperplasia, Adrenogenital syndrome	OMIM:202110
Ventricular Septal Defect 1	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect...	OMIM:614429
Bernard-Soulier Syndrome	Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Abnormal bleeding, Hematemesis, Pr...	ORPHA:274
Bernard-Soulier Syndrome	Gastrointestinal hemorrhage, Prolonged bleeding time, Abnormal bleeding, Epistaxis, Prolonged ble...	OMIM:231200
Bleeding Disorder, Platelet-Type, 17	Gastrointestinal hemorrhage, Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged ble...	OMIM:187900
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Cutis marmorata, Vasculitis, Skin ulcer, Petechiae, Purpura	ORPHA:91138
Autoimmune Polyendocrinopathy Type 1	Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc...	ORPHA:3453
Prothrombin Deficiency, Congenital	Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno...	OMIM:613679
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Purpura, Cerebral hemorrhage, Pulmonary embolism	OMIM:614514
Familial Hyperaldosteronism Type I	Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ...	ORPHA:403
Fetal Encasement Syndrome	Omphalocele, Tetralogy of Fallot, Congenital diaphragmatic hernia	OMIM:613630
Scimitar Syndrome	Heart block, Pulmonary artery hypoplasia, Hernia, Atrial septal defect, Single ventricle, Patent ...	ORPHA:185
Pulmonary Atresia-Intact Ventricular Septum Syndrome	Pulmonary artery atresia, Patent ductus arteriosus	ORPHA:1208
Acquired Purpura Fulminans	Shock, Pyoderma gangrenosum, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura...	ORPHA:49566
Aortic Arch Interruption	Bicuspid aortic valve, Aortic valve atresia, Pedal edema, Aortopulmonary window, Absent pulse, Si...	ORPHA:2299
Acth-Independent Macronodular Adrenal Hyperplasia	Adrenal hyperplasia, Decreased circulating ACTH concentration, Increased circulating cortisol lev...	OMIM:219080
Drug-Induced Lupus Erythematosus	Pericardial effusion, Pericarditis, Prolonged QTc interval, Petechiae	ORPHA:231111
Hypothyroidism, Congenital, Nongoitrous, 4	Omphalocele, Umbilical hernia, Dry skin	OMIM:275100
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal coronary artery morphology, Cardiac shunt, Cardiomegaly, Abnormal aortic arch morphology...	ORPHA:860
Roch-Leri Mesosomatous Lipomatosis	Multiple lipomas, Purpura	ORPHA:529
Acute Promyelocytic Leukemia	Abnormal bleeding, Epistaxis, Diffuse alveolar hemorrhage, Oral cavity bleeding, Gingival bleedin...	ORPHA:520
Tricuspid Atresia	Cyanosis, Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persist...	ORPHA:1209
Primary Myelofibrosis	Abnormal bleeding, Portal hypertension, Pallor, Ecchymosis, Petechiae, Purpura	ORPHA:824
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Omphalocele, Ventricular septal defect, Diastasis recti, Polyhydramnios, Large placenta, Abnormal...	ORPHA:254534
Congenital Heart Defects, Multiple Types, 9	Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl...	OMIM:620294
Adams-Oliver Syndrome 4	Ventricular septal defect, Cutis marmorata, Patent ductus arteriosus, Atrial septal defect, Umbil...	OMIM:615297
Omphalocele	Omphalocele	ORPHA:660
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no...	OMIM:604169
Pseudo-Torch Syndrome 1	Patent ductus arteriosus, Jaundice, Umbilical hernia, Patent foramen ovale, Petechiae	OMIM:251290
Genitopalatocardiac Syndrome	Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the...	OMIM:231060
Sea-Blue Histiocytosis	Abnormal bleeding, Petechiae, Edema	ORPHA:158029
Microvillus Inclusion Disease	Hypovolemia, Dehydration	ORPHA:2290
Meningococcal Meningitis	Shock, Stroke, Hypotension, Petechiae, Purpura	ORPHA:33475
Cocaine Intoxication	Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola...	ORPHA:90068
Aicardi-Goutieres Syndrome 1	Erythema, Vasculitis, Cardiomyopathy, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura	OMIM:225750
Congenital Heart Defects, Multiple Types, 2	Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong...	OMIM:614980
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Epistaxis, Menorrhagia, Gingival bleeding, Ecchymosis, Bruising susceptibility, Prolonged bleedin...	OMIM:153670
Colchicine Poisoning	Myocarditis, Congestive heart failure, Hypovolemia, Dehydration, Hypotension, Cardiogenic shock, ...	ORPHA:31824
Hb Bart'S Hydrops Fetalis	Pericarditis, Polyhydramnios, Congestive heart failure, Hydrops fetalis, Pallor, Oligohydramnios	ORPHA:163596
Leukocyte Adhesion Deficiency, Type Iii	Abnormal bleeding, Epistaxis, Petechiae	OMIM:612840
Ehlers-Danlos Syndrome, Periodontal Type, 2	Prominent superficial veins, Inguinal hernia, Atypical scarring of skin, Gingival bleeding, Umbil...	OMIM:617174
Conotruncal Heart Malformations	Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran...	OMIM:217095
Hyperaldosteronism, Familial, Type Iii	Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level	OMIM:613677
Iga Nephropathy, Susceptibility To, 1	Hypertension, Purpura	OMIM:161950
Optic Atrophy 7 With Or Without Auditory Neuropathy	Hypertrophic cardiomyopathy, Pallor	OMIM:612989
Tufted Angioma	Petechiae, Purpura	ORPHA:1063
Bleeding Disorder, Platelet-Type, 16	Abnormal bleeding, Petechiae	OMIM:187800
Livedoid Vasculopathy	Telangiectasia of the skin, Abnormal capillary morphology, Poor wound healing, Cutis marmorata, V...	ORPHA:542643
Nephrogenic Diabetes Insipidus	Hypernatremic dehydration, Hypovolemia, Polyhydramnios	ORPHA:223
Epidermolysis Bullosa Simplex 5A, Ogna Type	Skin fragility with non-scarring blistering, Bruising susceptibility	OMIM:131950
Plasma Clot Retraction Factor, Deficiency Of	Gastrointestinal hemorrhage, Bruising susceptibility, Poor wound healing	OMIM:262800
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi...	OMIM:277450
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmonary artery, Patent...	OMIM:618845
Atrial Septal Defect 2	Aortic regurgitation, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Mitral r...	OMIM:607941
Pigmented Nodular Adrenocortical Disease, Primary, 4	Primary hypercortisolism, Diabetes mellitus, Increased circulating cortisol level, Adrenal hyperp...	OMIM:615830
Double Outlet Right Ventricle	Tachycardia, Cyanosis, Ventricular septal defect, Double outlet right ventricle, Heart murmur, Co...	ORPHA:3426
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Omphalocele, Ventricular septal defect, Parachute mitral valve, Patent ductus arteriosus, Atrial ...	OMIM:618316
Fixed Subaortic Stenosis	Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri...	ORPHA:3092
Aortic Valve Disease 1	Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou...	OMIM:109730
Sepsis In Premature Infants	Abnormal bleeding, Tachycardia, Cyanosis, Edema, Jaundice, Pallor, Bradycardia, Hypotension, Pete...	ORPHA:90051
Kagami-Ogata Syndrome	Omphalocele, Inguinal hernia, Ventricular septal defect, Diastasis recti, Polyhydramnios, Patent ...	OMIM:608149
Recombinant Chromosome 8 Syndrome	Ventricular septal defect, Patent ductus arteriosus, Joint contracture of the hand, Pulmonic sten...	OMIM:179613
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Pallor	ORPHA:46532
Marburg Hemorrhagic Fever	Shock, Abnormal bleeding, Pericarditis, Tachycardia, Excessive bleeding after a venipuncture, Jau...	ORPHA:99826
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Decreased circulating ACTH concentration, Macronodular adrenal ...	OMIM:615954
Omphalocele, X-Linked	Omphalocele	OMIM:310980
Omphalocele, Autosomal	Omphalocele	OMIM:164750
Familial Hyperaldosteronism Type Iii	Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Dexamethasone-suppres...	ORPHA:251274
Cranioacrofacial Syndrome	Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis	OMIM:122850
Gaisböck Syndrome	Plethora, Angina pectoris, Myocardial infarction, Hypovolemia, Peripheral arterial stenosis, Elev...	ORPHA:90041
Gaucher Disease, Perinatal Lethal	Nonimmune hydrops fetalis, Polyhydramnios, Cardiomegaly, Neonatal death, Arthrogryposis multiplex...	OMIM:608013
Heterotaxy, Visceral, 12, Autosomal	Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent...	OMIM:619702
Donnai-Barrow Syndrome	Omphalocele, Umbilical hernia, Ventricular septal defect, Congenital diaphragmatic hernia	ORPHA:2143
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Pallor	ORPHA:79283
Heterotaxy, Visceral, 1, X-Linked	Polyhydramnios, Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, At...	OMIM:306955
Hypothyroidism, Congenital, Nongoitrous, 6	Omphalocele, Dry skin	OMIM:614450
Boutonneuse Fever	Vasculitis, Petechiae	ORPHA:83313
Complement Component 2 Deficiency	Purpura	OMIM:217000
Congenital Heart Defects, Multiple Types, 3	Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle...	OMIM:614954
Primary Release Disorder Of Platelets	Abnormal bleeding, Spontaneous, recurrent epistaxis, Bruising susceptibility, Menorrhagia	OMIM:176630
Peripheral Cone Dystrophy	Pallor	OMIM:609021
Acute Adrenal Insufficiency	Orthostatic hypotension, Myocardial infarction, Hypovolemia, Stroke, Hypotension, Dry skin	ORPHA:95409
Ciliary Dyskinesia, Primary, 39	Double outlet right ventricle, Dextrocardia	OMIM:618254
Cone-Rod Dystrophy 11	Pallor	OMIM:610381
Ethylmalonic Encephalopathy	Acrocyanosis, Petechiae	ORPHA:51188
Autoimmune Lymphoproliferative Syndrome, Type Iia	Gastrointestinal hemorrhage, Urticaria, Vasculitis, Petechiae	OMIM:603909
Prolidase Deficiency	Petechiae, Diffuse telangiectasia, Skin ulcer, Prolonged neonatal jaundice	OMIM:170100
Wiskott-Aldrich Syndrome	Prolonged bleeding time, Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden cardiac death, He...	ORPHA:906
Miller-Dieker Syndrome	Omphalocele, Polyhydramnios	ORPHA:531
Hatipoglu Immunodeficiency Syndrome	Inguinal hernia, Poor wound healing, Premature graying of hair, Dry skin, Petechiae	OMIM:620331
Rheumatic Fever	Pericarditis, Abnormal heart valve morphology, Epistaxis, Myocarditis, Erythema, Aplasia/Hypoplas...	ORPHA:3099
Hemochromatosis, Type 3	Cardiomyopathy, Purpura	OMIM:604250
Lysosomal Acid Lipase Deficiency	Precocious atherosclerosis, Bone-marrow foam cells, Jaundice, Hypovolemia, Dehydration, Stroke, H...	ORPHA:275761
Encephalopathy, Ethylmalonic	Acrocyanosis, Petechiae	OMIM:602473
Heterotaxy, Visceral, 6, Autosomal	Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast...	OMIM:614779
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Omphalocele, Ventricular septal defect	ORPHA:93267
Familial Hypoaldosteronism	Orthostatic hypotension, Hypovolemia, Hypotension	ORPHA:427
Pituitary Adenoma 4, Acth-Secreting	Edema, Poor wound healing, Facial erythema, Hypertension, Ecchymosis, Bruising susceptibility, St...	OMIM:219090
Megabladder, Congenital	Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ...	OMIM:618719
Non-Syndromic Metopic Craniosynostosis	Omphalocele	ORPHA:3366
Hyperinsulinism Due To Ucp2 Deficiency	Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy	ORPHA:276556
Omphalocele-Cleft Palate Syndrome, Lethal	Omphalocele	OMIM:258320
Fetal Minoxidil Syndrome	Umbilical hernia, Ventricular septal defect	ORPHA:1918
Griscelli Syndrome Type 2	Premature graying of hair, Jaundice, Petechiae	ORPHA:79477
Ventricular Septal Defect 3	Pulmonary artery stenosis, Patent ductus arteriosus	OMIM:614432
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Decreased circ...	ORPHA:90793
Waldenström Macroglobulinemia	Gastrointestinal hemorrhage, Cutis marmorata, Epistaxis, Periorbital edema, Congestive heart fail...	ORPHA:33226
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Omphalocele, Ventricular septal defect, Anterior encephalocele	OMIM:601357
Pseudodiastrophic Dysplasia	Omphalocele	ORPHA:85174
Boomerang Dysplasia	Omphalocele, Aplasia/Hypoplasia of the abdominal wall musculature, Hydrops fetalis, Polyhydramnios	ORPHA:1263
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Overriding aorta, Cyanosis, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Do...	ORPHA:3304
Isolated Permanent Neonatal Diabetes Mellitus	Hypovolemia, Dehydration, Abnormal heart morphology, Lower-limb joint contracture, Arthrogryposis...	ORPHA:99885
Ehlers-Danlos Syndrome, Classic Type, 2	Cigarette-paper scars, Atrophic scars, Hernia, Bruising susceptibility, Fragile skin	OMIM:130010
Thrombocytopenia 3	Epistaxis, Petechiae	OMIM:273900
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta...	ORPHA:3282
Familial Hemophagocytic Lymphohistiocytosis	Jaundice, Ecchymosis, Bruising susceptibility, Petechiae, Purpura	ORPHA:540
Fucosidosis	Angiokeratoma, Cardiomegaly, Flexion contracture, Bruising susceptibility, Hernia, Cherry red spo...	OMIM:230000
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Hypertrophic cardiomyopathy, Pallor	OMIM:613561
Mesoaxial Hexadactyly And Cardiac Malformation	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis	OMIM:249670
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Omphalocele, Ventricular septal defect, Bicuspid aortic valve, Atrioventricular block, Mitral val...	ORPHA:371428
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Atrial septal defect, Neonatal dea...	OMIM:265380
Primary Unilateral Adrenal Hyperplasia	Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Decreased circulating...	ORPHA:231580
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy	ORPHA:276575
Congenital Factor V Deficiency	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after dental extraction, Prolonged ble...	ORPHA:326
Eng-Strom Syndrome	Abnormal cardiac septum morphology, Ventricular septal defect, Camptodactyly of finger	ORPHA:1937
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1	Inguinal hernia, Poor wound healing, Arterial rupture, Atrial septal defect, Bruising susceptibil...	OMIM:619115
Thrombocytopenia 1	Bruising susceptibility, Joint hemorrhage, Epistaxis, Petechiae	OMIM:313900
Ritscher-Schinzel Syndrome 1	Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenos...	OMIM:220210
Breath-Holding Spells	Cyanosis, Pallor	OMIM:607578
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy	ORPHA:276580
Fetal Valproate Spectrum Disorder	Omphalocele	ORPHA:1906
Bleeding Disorder In Hemophilia A Carriers	Abnormal bleeding, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolonged bleed...	ORPHA:177926
Congenital Gerbode Defect	Pedal edema, Holosystolic murmur, Bacterial endocarditis, Abnormal tricuspid valve leaflet morpho...	ORPHA:99095
Hemorrhagic Fever-Renal Syndrome	Shock, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, Hypertension...	ORPHA:340
Dermatitis, Atopic	Dry skin, Pallor, Facial erythema	OMIM:603165
Anti-Glomerular Basement Membrane Disease	Vasculitis, Purpura	ORPHA:375
Nut Midline Carcinoma	Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc...	ORPHA:443167
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Arteria lusoria, Abnormal aortic arch morphology, Aortopulmonary window, Atrial septal defect, Pu...	ORPHA:99050
Heterotaxy, Visceral, 8, Autosomal	Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm...	OMIM:617205
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Petechiae, Purpura	OMIM:605432
Hermansky-Pudlak Syndrome 1	Prolonged bleeding time, Epistaxis, Hematochezia, Cardiomyopathy, Gingival bleeding, Ecchymosis, ...	OMIM:203300
Optic Atrophy 1	Pallor	OMIM:165500
Pulmonary Atresia With Ventricular Septal Defect	Pulmonary artery atresia, Ventricular septal defect	OMIM:178370
Autoerythrocyte Sensitization Syndrome	Gastrointestinal hemorrhage, Epistaxis, Edema, Intracranial hemorrhage, Oral cavity bleeding, Men...	ORPHA:324636
Cyclic Vomiting Syndrome	Cardiomyopathy, Pallor	OMIM:500007
Rhabdoid Tumor Predisposition Syndrome 1	Medulloblastoma, Choroid plexus carcinoma	OMIM:609322
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Increased circu...	ORPHA:90790
Acalvaria	Omphalocele, Spina bifida	ORPHA:945
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ...	ORPHA:369929
Kanzaki Disease	Telangiectasia of the oral mucosa, Lymphedema, Lip telangiectasia, Angiokeratoma corporis diffusu...	OMIM:609242
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Omphalocele, Congenital diaphragmatic hernia	ORPHA:2141
Pancreatic Cancer, Susceptibility To, 1	Pancreatic adenocarcinoma	OMIM:606856
Benign Paroxysmal Torticollis Of Infancy	Pallor	ORPHA:71518
Osteopetrosis, Autosomal Recessive 4	Petechiae	OMIM:611490
Afibrinogenemia, Congenital	Abnormal bleeding, Epidural hemorrhage, Epistaxis, Hematemesis, Subdural hemorrhage, Prolonged bl...	OMIM:202400
American Trypanosomiasis	Edema, Periorbital edema, Myocarditis, Congestive heart failure, Cardiomyopathy, Pallor, Arrhythmia	ORPHA:3386
Gillessen-Kaesbach-Nishimura Syndrome	Omphalocele, Polyhydramnios, Congenital diaphragmatic hernia, Flexion contracture, Abnormal heart...	OMIM:263210
Hyperimmunoglobulinemia D With Periodic Fever	Gastrointestinal hemorrhage, Erythema, Vasculitis, Urticaria, Acrocyanosis, Purpura	ORPHA:343
Grange Syndrome	Aortic regurgitation, Ventricular septal defect, Patent ductus arteriosus, Arterial stenosis, Hyp...	ORPHA:79094
Trisomy 1Q	Omphalocele, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia,...	ORPHA:261344
Non-Functioning Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Flushing, Palpitations, Pallor, Positive regitine ...	ORPHA:94080
Indomethacin Embryofetopathy	Ventricular septal defect, Hydrops fetalis, Cardiomyopathy, Atrial septal defect, Oligohydramnios	ORPHA:1909
Hereditary Amyloidosis With Primary Renal Involvement	Gastrointestinal hemorrhage, Congestive heart failure, Hypertension, Petechiae, Purpura	ORPHA:85450
Glioma Susceptibility 3	Acute myeloid leukemia, Glioblastoma multiforme, Astrocytoma, B Acute Lymphoblastic Leukemia, Med...	OMIM:613029
Pleuropulmonary Blastoma	Medulloblastoma, Pleuropulmonary blastoma, Rhabdomyosarcoma	OMIM:601200
Aorta Coarctation	Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Congestive heart failure, Pa...	ORPHA:1457
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Patent ductus arteriosus, Part...	OMIM:619657
Mirage Syndrome	Intracranial hemorrhage, Patent ductus arteriosus, Petechiae	OMIM:617053
Carpenter Syndrome 1	Omphalocele, Ventricular septal defect, Patent ductus arteriosus, Spina bifida occulta, Joint con...	OMIM:201000
Moderate Hemophilia A	Gastrointestinal hemorrhage, Hip contracture, Epidural hemorrhage, Abnormal bleeding, Prolonged b...	ORPHA:169805
Eosinophilic Granulomatosis With Polyangiitis	Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Abnormal pericardium morphology, ...	ORPHA:183
Kallmann Syndrome-Heart Disease Syndrome	Aortic regurgitation, Cyanosis, Anomalous origin of left coronary artery from the pulmonary arter...	ORPHA:2326
Hermansky-Pudlak Syndrome 6	Abnormal bleeding, Prolonged bleeding time, Epistaxis, Ecchymosis, Bruising susceptibility	OMIM:614075
Fibrinolytic Defect	Spontaneous hematomas	OMIM:134900
Chromosome 9P Deletion Syndrome	Omphalocele, Inguinal hernia, Ventricular septal defect, Patent ductus arteriosus, Heart murmur, ...	OMIM:158170
Immunodeficiency 81	Petechiae	OMIM:619374
Chikungunya	Abnormal bleeding, Epistaxis, Raynaud phenomenon, Facial edema, Erythema, Pedal edema, Enthesitis...	ORPHA:324625
X-Linked Ehlers-Danlos Syndrome	Umbilical hernia, Inguinal hernia, Bruising susceptibility, Hernia	ORPHA:75497
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency	Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after dental extr...	ORPHA:465
Pancreatic Cancer, Susceptibility To, 2	Neoplasm of the pancreas	OMIM:613347
Bleeding Disorder, Platelet-Type, 9	Bruising susceptibility	OMIM:614200
Deafness-Lymphedema-Leukemia Syndrome	Prolonged bleeding time, Lymphedema, Intracranial hemorrhage, Pallor, Bruising susceptibility	ORPHA:3226
Classical Ehlers-Danlos Syndrome	Incisional hernia, Ecchymosis, Acrocyanosis, Prolonged bleeding time, Prematurely aged appearance...	ORPHA:287
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear...	ORPHA:216694
Thoracoabdominal Syndrome	Omphalocele, Ventral hernia, Congenital diaphragmatic hernia, Patent ductus arteriosus, Anencepha...	OMIM:313850
Thrombocytopenia 2	Bruising susceptibility	OMIM:188000
Maternal Uniparental Disomy Of Chromosome 6	Hydrocele testis, Congenital adrenal hyperplasia, Increased serum testosterone level	ORPHA:96181
Pheochromocytoma/Paraganglioma Syndrome 7	Pheochromocytoma, Paraganglioma	OMIM:618475
Kaposiform Lymphangiomatosis	Abnormal bleeding, Epidural hemorrhage, Epistaxis, Pericardial effusion, Abnormal lymphatic vesse...	ORPHA:464329
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Redundant neck skin, Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Sup...	OMIM:618164
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Decreased circulating cortisol level, Increased circulating androstenedione concentration, Crypto...	ORPHA:90791
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Pallor	ORPHA:2786
Ehlers-Danlos Syndrome, Cardiac Valvular Type	Aortic regurgitation, Inguinal hernia, Mitral valve prolapse, Atrophic scars, Mitral regurgitatio...	OMIM:225320
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr...	ORPHA:189427
Coenzyme Q10 Deficiency, Primary, 7	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Bradycardia, Hypertr...	OMIM:616276
Pentalogy Of Cantrell	Encephalocele, Omphalocele, Ventricular septal defect, Abnormal pericardium morphology, Congenita...	ORPHA:1335
Severe Hemophilia A	Gastrointestinal hemorrhage, Epidural hemorrhage, Limb joint contracture, Epistaxis, Poor wound h...	ORPHA:169802
Simple Cryoglobulinemia	Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Raynaud phenomenon, Congestive ...	ORPHA:91139
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter...	OMIM:108900
Focal Dermal Hypoplasia	Omphalocele, Inguinal hernia, Telangiectasia of the skin, Ventricular septal defect, Spina bifida...	ORPHA:2092
Long Qt Syndrome 16	Patent ductus arteriosus after birth at term, T-wave alternans, Second degree atrioventricular bl...	OMIM:618782
Spontaneous Periodic Hypothermia	Arrhythmia, Pallor	ORPHA:29822
Acute Myelomonocytic Leukemia	Abnormal bleeding, Pallor	ORPHA:517
Leber Congenital Amaurosis 14	Pallor	OMIM:613341
Immunoglobulin A Vasculitis	Gastrointestinal hemorrhage, Edema, Angioedema, Erythema, Vasculitis, Skin ulcer, Urticaria, Brui...	ORPHA:761
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Ventricular septal defect, Patent ductus arteriosus, Peripheral arterial stenosis, Pedal edema, S...	OMIM:126320
Nemaline Myopathy 9	Arthrogryposis multiplex congenita, Ventricular septal defect, Polyhydramnios	OMIM:615731
Von Willebrand Disease, Type 1	Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after dental ...	OMIM:193400
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Omphalocele, Inguinal hernia, Redundant neck skin, Diastasis recti, Polyhydramnios, Large placent...	ORPHA:254528
Congenital Factor X Deficiency	Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after dental ...	ORPHA:328
Lujo Hemorrhagic Fever	Shock, Generalized edema, Facial edema, Myocarditis, Periorbital edema, Excessive bleeding after ...	ORPHA:319213
Medulloblastoma	Medulloblastoma	OMIM:155255
Sonoda Syndrome	Ventricular septal defect	OMIM:270460
Right Atrial Isomerism	Right atrial isomerism, Inguinal hernia, Ventricular septal defect, Dextrocardia, Aortopulmonary ...	OMIM:208530
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hypovolemia, Hypotension, Dehydration	ORPHA:168558
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Tachycardia, Pallor	ORPHA:276608
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Hypovolemia, Hypotension, Dehydration	ORPHA:289548
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Pallor, ...	ORPHA:99125
Idiopathic Aplastic Anemia	Retinal hemorrhage, Ecchymosis, Epistaxis, Gingival bleeding	ORPHA:88
Bleeding Disorder, Platelet-Type, 18	Prolonged bleeding time, Epistaxis, Menorrhagia, Bruising susceptibility, Prolonged bleeding afte...	OMIM:615888
Factor Vii Deficiency	Abnormal bleeding, Epistaxis, Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Bruising su...	OMIM:227500
Familial Focal Epilepsy With Variable Foci	Pallor, Flushing	ORPHA:98820
Craniofaciofrontodigital Syndrome	Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Edema, Polyhydramnios...	ORPHA:363705
Proximal Renal Tubular Acidosis	Enamel hypomineralization, Hypovolemia, Dehydration, Subvalvular aortic stenosis	ORPHA:47159
Isolated Right Ventricular Hypoplasia	Tricuspid regurgitation, Cyanosis, Abnormal atrioventricular conduction, Cardiomegaly, Right vent...	ORPHA:439
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Adrenal hyperplasia, Cryptorchidism, Increased circulating dehydroepiandrosterone-sulfate concent...	OMIM:201810
Hemophilia A	Gastrointestinal hemorrhage, Intraventricular hemorrhage, Intracranial hemorrhage, Joint swelling...	ORPHA:98878
Bleeding Disorder, Platelet-Type, 20	Bruising susceptibility, Menorrhagia, Epistaxis	OMIM:616913
Von Willebrand Disease, Type 2	Bruising susceptibility, Menorrhagia, Epistaxis	OMIM:613554
Bleeding Disorder, Platelet-Type, 19	Abnormal bleeding, Spontaneous hematomas, Menorrhagia, Epistaxis	OMIM:616176
Congenital Fibrinogen Deficiency	Abnormal bleeding, Tachycardia, Cyanosis, Abnormal umbilical stump bleeding, Prolonged prothrombi...	ORPHA:335
Schisis Association	Encephalocele, Omphalocele, Congenital diaphragmatic hernia, Spina bifida, Anencephaly	ORPHA:63862
Autosomal Dominant Coarctation Of Aorta	Aortic arch aneurysm, Patent ductus arteriosus, Abnormal aortic arch morphology	ORPHA:1455
Cardiomyopathy, Dilated, 2H	Neonatal death, Secundum atrial septal defect, Muscular ventricular septal defect, Reduced left v...	OMIM:620203
Hyperinsulinism Due To Hnf1A Deficiency	Tachycardia, Syncope, Palpitations, Pallor	ORPHA:324575
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Increased circulating androstenedione concentration, Decreased circulating aldosterone level, Adr...	OMIM:202010
Distal Duplication 15Q	Omphalocele, Camptodactyly of finger	ORPHA:1707
Lethal Congenital Contracture Syndrome 10	Omphalocele, Overriding aorta, Ventricular septal defect, Cardiomegaly, Hydrops fetalis, Oligohyd...	OMIM:617022
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis	OMIM:617992
Aortic Aneurysm, Familial Thoracic 4	Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Th...	OMIM:132900
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Redundant neck skin, Ventricular septal defect, Polyhydramnios, Abnormal left ventricular functio...	OMIM:301056
Lambert Syndrome	Branchial anomaly, Ventricular septal defect, Inguinal hernia, Jaundice	ORPHA:1296
Bacterial Toxic-Shock Syndrome	Shock, Tachycardia, Fasciitis, Edema, Myocarditis, Capillary leak, Scaling skin, Hypotension, Cel...	ORPHA:36234
Beta-Thalassemia	Hypertrophic cardiomyopathy, Pallor, Skin ulcer	ORPHA:848
Myopathic Ehlers-Danlos Syndrome	Multiple joint contractures, Foot joint contracture, Shoulder flexion contracture, Ankle flexion ...	ORPHA:536516
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
C Syndrome	Omphalocele, Patent ductus arteriosus, Ventricular septal defect, Cutis laxa	OMIM:211750
Juvenile Nephropathic Cystinosis	Hypovolemia, Dehydration	ORPHA:411634
Idiopathic Pulmonary Hemosiderosis	Heart murmur, Pallor, Diffuse alveolar hemorrhage, Cardiomegaly	ORPHA:99931
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Omphalocele, Ventricular septal defect	OMIM:617895
16P13.11 Microduplication Syndrome	Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept...	ORPHA:261243
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Abnormal left ventricular function, Ecchymosis, Internal hemorrhage, Pericar...	ORPHA:99827
Hemoglobin D Disease	Pallor	ORPHA:90039
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Pe...	ORPHA:477817
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ...	ORPHA:786
Acquired Von Willebrand Syndrome	Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Gastrointestinal angiodysplasia, In...	ORPHA:99147
Primary Lateral Sclerosis, Juvenile	Pallor	OMIM:606353
Pseudoxanthoma Elasticum	Abnormal endocardium morphology, Gastrointestinal hemorrhage, Striae distensae, Angina pectoris, ...	ORPHA:758
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Omphalocele, Ventricular septal defect, Polyhydramnios, Hematochezia, Enamel hypoplasia	OMIM:243150
Trigonocephaly 1	Omphalocele	OMIM:190440
Immunodeficiency, Common Variable, 6	Purpura	OMIM:613496
Myelofibrosis	Pallor, Purpura	OMIM:254450
Neurooculocardiogenitourinary Syndrome	Tricuspid regurgitation, Ventricular septal defect, Redundant neck skin, Cardiomegaly, Patent duc...	OMIM:618652
Cardiomyopathy, Familial Hypertrophic, 4	First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo...	OMIM:115197
8P23.1 Duplication Syndrome	Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	ORPHA:251076
Congenital Factor Vii Deficiency	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,...	ORPHA:327
Triploidy	Omphalocele, Meningocele, Abnormal cardiac septum morphology, Polyhydramnios	ORPHA:3376
Gray Platelet Syndrome	Abnormal bleeding, Bruising susceptibility, Epistaxis	ORPHA:721
Drug-Induced Autoimmune Hemolytic Anemia	Congestive heart failure, Tachycardia, Pallor	ORPHA:90037
Microphthalmia, Syndromic 12	Neonatal death, Hypoplastic left atrium, Ventricular septal defect, Congenital diaphragmatic hernia	OMIM:615524
Cardiac Valvular Dysplasia 1	Edema, Arteria lusoria, Hydrops fetalis, Atrial septal defect, Pulmonary artery atresia, Patent f...	OMIM:212093
Heterotaxy, Visceral, 5, Autosomal	Atrial reentry tachycardia, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Pate...	OMIM:270100
Teebi Hypertelorism Syndrome 1	Atrial septal defect, Omphalocele, Aortic root aneurysm, Ventricular septal defect	OMIM:145420
Pseudotrisomy 13 Syndrome	Encephalocele, Omphalocele, Ventricular septal defect, Dextrocardia, Complete atrioventricular ca...	OMIM:264480
Classical-Like Ehlers-Danlos Syndrome Type 1	Gastrointestinal hemorrhage, Precocious atherosclerosis, Mitral valve prolapse, Stroke, Arrhythmi...	ORPHA:230839
Cutis Laxa, Autosomal Dominant 1	Aortic regurgitation, Inguinal hernia, Ventricular septal defect, Redundant skin, Poor wound heal...	OMIM:123700
Spinal Muscular Atrophy, Type I	Atrial septal defect, Ventricular septal defect	OMIM:253300
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Atrophic scars, Bruising susceptibility, Arterial rupture, Hernia	ORPHA:300179
Peroxisome Biogenesis Disorder 8A (Zellweger)	Jaundice, Ventricular septal defect	OMIM:614876
Glanzmann Thrombasthenia 2	Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery, Menorrha...	OMIM:619267
X-Linked Sideroblastic Anemia	Pallor	ORPHA:75563
Truncus Arteriosus	Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort...	ORPHA:3384
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to...	OMIM:613759
Caudal Duplication	Omphalocele, Myelomeningocele, Spina bifida	ORPHA:1756
Short-Rib Thoracic Dysplasia 12	Omphalocele, Inguinal hernia, Ventricular septal defect, Edema, Polyhydramnios, Patent ductus art...	OMIM:269860
Laubry-Pezzi Syndrome	Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab...	ORPHA:99094
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Prolonged bleeding time, Pericarditis, Myocarditis, Xerostomia, Join...	ORPHA:809
Arterial Tortuosity Syndrome	Ventricular hypertrophy, Aortic regurgitation, Inguinal hernia, Carotid artery dissection, Congen...	OMIM:208050
Giant platelet syndrome with thrombocytopenia	Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged bleeding after dental extraction	OMIM:137560
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Omphalocele, Congenital diaphragmatic hernia	OMIM:601163
Dyskeratosis Congenita, Autosomal Recessive 8	Petechiae	OMIM:620133
Heart Defects-Limb Shortening Syndrome	Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormal tricu...	ORPHA:1354
Stormorken-Sjaastad-Langslet Syndrome	Purpura	ORPHA:3204
Donnai-Barrow Syndrome	Omphalocele, Umbilical hernia, Ventricular septal defect, Congenital diaphragmatic hernia	OMIM:222448
Cardiomyopathy, Dilated, 2D	Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def...	OMIM:619371
Familial Aortic Dissection	Descending thoracic aorta aneurysm, Patent ductus arteriosus, Mucoid extracellular matrix accumul...	ORPHA:229
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Atrial septal defect, Ventricular septal defect	OMIM:614249
Intellectual Developmental Disorder, Autosomal Recessive 73	Patent ductus arteriosus, Ventricular septal defect	OMIM:619717
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Ventricular septal defect, Spina bifida, Anencephaly, Hypoplastic left heart, Gastroschisis	ORPHA:2476
Heterotaxy, Visceral, 7, Autosomal	Cyanosis, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of righ...	OMIM:616749
Structural Heart Defects And Renal Anomalies Syndrome	Cyanosis, Ventricular septal defect, Partial anomalous pulmonary venous return, Right aortic arch...	OMIM:617478
Adams-Oliver Syndrome 6	Tricuspid regurgitation, Cutis marmorata, Ventricular septal defect, Portal hypertension, Truncus...	OMIM:616589
Criss-Cross Heart	Cyanosis, Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pul...	ORPHA:1461
Wiskott-Aldrich Syndrome	Prolonged bleeding time, Epistaxis, Hematemesis, Large vessel vasculitis, Melena, Gingival bleedi...	OMIM:301000
Cutis Marmorata Telangiectatica Congenita	Telangiectasia of the skin, Cutis marmorata, Patent ductus arteriosus, Arterial stenosis, Arterio...	ORPHA:1556
Factor V Deficiency	Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Menorrhagia, B...	OMIM:227400
Bilateral Striopallidodentate Calcinosis	Subcutaneous hemorrhage	ORPHA:1980
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fi...	ORPHA:137675
Developmental Delay With Or Without Dysmorphic Facies And Autism	Omphalocele, Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ...	OMIM:618454
Microcephaly-Cardiomyopathy Syndrome	Dilated cardiomyopathy, Ventricular septal defect	ORPHA:2515
Noonan Syndrome 8	Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Pleural effusion, Mitral reg...	OMIM:615355
Timothy Syndrome	Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Ventric...	OMIM:601005
Noonan Syndrome 12	Tetralogy of Fallot, Ventricular septal defect, Polyhydramnios, Supravalvular aortic stenosis	OMIM:618624
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Ventricular septal defect, Pulmonic stenosis, Camptodactyly, Atrial septal defect, Arthrogryposis...	OMIM:614262
Atrial Septal Defect 1	Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec...	OMIM:108800
Ehlers-Danlos Syndrome, Classic-Like, 2	Ventral hernia, Prominent superficial veins, Inguinal hernia, Prematurely aged appearance, Redund...	OMIM:618000
Mosaic Trisomy 1	Omphalocele, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia,...	ORPHA:1692
Fibrochondrogenesis 1	Omphalocele, Hydrops fetalis, Stillbirth, Camptodactyly, Joint contracture of the hand, Patent fo...	OMIM:228520
Catel-Manzke Syndrome	Atrial septal defect, Ventricular septal defect, Camptodactyly of finger	ORPHA:1388
Cushing Disease	Plethora, Dorsocervical fat pad, Myocardial infarction, Poor wound healing, Skin ulcer, Pedal ede...	ORPHA:96253
3Mc Syndrome 1	Conjunctival telangiectasia, Omphalocele, Ventricular septal defect, Diastasis recti, Patent duct...	OMIM:257920
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros...	ORPHA:95699
Primary Ciliary Dyskinesia	Abnormal atrial arrangement, Atrial situs ambiguous, Situs inversus totalis, Anomalous pulmonary ...	ORPHA:244
Varicose Veins	Varicose veins	OMIM:192200
Combined Deficiency Of Factor V And Factor Viii	Gastrointestinal hemorrhage, Epistaxis, Joint hemorrhage, Prolonged bleeding after surgery, Prolo...	ORPHA:35909
Ehlers-Danlos Syndrome, Vascular Type	Dermal translucency, Inguinal hernia, Recurrent intrapulmonary hemorrhage, Diffuse alveolar hemor...	OMIM:130050
Congenital Alpha2-Antiplasmin Deficiency	Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,...	ORPHA:79
X-Linked Intellectual Disability, Nascimento Type	Ventricular septal defect, Patent ductus arteriosus, Abnormal vena cava morphology, Double outlet...	ORPHA:163956
Feingold Syndrome Type 2	Ventricular septal defect	ORPHA:391646
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Tachycardia, Ventricular septal defect, Patent ductus arteriosus, Flexion contracture, Interphala...	OMIM:613870
Robinow Syndrome, Autosomal Dominant 3	Omphalocele, Tricuspid regurgitation, Ventricular septal defect, Hypoplastic right heart, Patent ...	OMIM:616894
Pagod Syndrome	Encephalocele, Omphalocele, Sudden cardiac death, Spina bifida, Situs inversus totalis, Congenita...	ORPHA:991
Heterotaxy, Visceral, 2, Autosomal	Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Left atrial isomerism, Trans...	OMIM:605376
Meacham Syndrome	Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Aplasia of ...	OMIM:608978
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Aortic regurgitation, Tricuspid regurgitation, Scarring, Diastasis recti, Hiatus hernia, Mitral v...	OMIM:601776
Giant Cell Arteritis	Pericarditis, Epistaxis, Sudden cardiac death, Vasculitis, Skin ulcer, Cerebral ischemia, Aortic ...	ORPHA:397
Absence Of The Pulmonary Artery	Abnormal coronary artery morphology, Cardiomegaly, Pedal edema, Atrial septal defect, Patent fora...	ORPHA:980
Fryns Syndrome	Omphalocele, Congenital diaphragmatic hernia, Polyhydramnios, Abnormal aortic arch morphology, Ab...	ORPHA:2059
Kcnq2-Related Epileptic Encephalopathy	Pallor, Cerebral edema, Facial erythema	ORPHA:439218
Kasabach-Merritt Syndrome	Purpura, Prolonged prothrombin time, Petechiae, Abnormal lymphatic vessel morphology	ORPHA:2330
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Mitral regurgitation, Abnormal cardiac septum morphology, Ventricular septal defect	ORPHA:83473
Opitz Gbbb Syndrome	Omphalocele, Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ...	ORPHA:2745
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Shock, Hypovolemia, Hypotension, Dehydration	ORPHA:90794
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolap...	OMIM:612561
Ehlers-Danlos Syndrome, Classic-Like	Quadricuspid aortic valve, Poor wound healing, Hiatus hernia, Increased connective tissue, Mitral...	OMIM:606408
Autoimmune Hemolytic Anemia, Warm Type	Congestive heart failure, Tachycardia, Pallor, Jaundice	ORPHA:90033
Chromosome 10Q26 Deletion Syndrome	Atrial septal defect, Patent ductus arteriosus, Omphalocele	OMIM:609625
Vacterl/Vater Association	Omphalocele, Occipital encephalocele, Congenital diaphragmatic hernia, Polyhydramnios, Anencephal...	ORPHA:887
Isolated Anencephaly	Omphalocele, Congenital diaphragmatic hernia	ORPHA:563609
Double Outlet Left Ventricle	Double outlet left ventricle, Cyanosis, Ventricular septal defect, Abnormal coronary artery cours...	ORPHA:3427
Cinca Syndrome	Urticaria, Edema, Purpura	ORPHA:1451
Q Fever	Pericarditis, Abnormal heart valve morphology, Pericardial effusion, Myocarditis, Abnormal vascul...	ORPHA:781
Sporadic Pheochromocytoma/Secreting Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Flushing, Palpitations, Pallor, Positive regitine ...	ORPHA:276621
Scorpion Envenomation	Bundle branch block, Tachycardia, Pulmonary edema, Cardiac conduction abnormality, Edema, Myocard...	ORPHA:466677
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Omphalocele, Prune belly	OMIM:601389
14Q11.2 Microdeletion Syndrome	Patent ductus arteriosus, Ventricular septal defect	ORPHA:261120
Fanconi Anemia, Complementation Group I	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Pallor	OMIM:609053
Cutis Laxa, Autosomal Recessive, Type Ia	Inguinal hernia, Redundant skin, Congenital diaphragmatic hernia, Vascular tortuosity, Oligohydra...	OMIM:219100
Hemophilia A	Bruising susceptibility, Joint hemorrhage, Persistent bleeding after trauma, Muscle hemorrhage	OMIM:306700
Maternal Phenylketonuria	Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Hypoplastic left hear...	ORPHA:2209
Esophageal Atresia	Omphalocele, Cyanosis, Ventricular septal defect, Polyhydramnios, Coarctation of aorta, Pallor, T...	ORPHA:1199
Slc35A1-Cdg	Abnormal bleeding, Prolonged bleeding time, Cellulitis, Subcutaneous hemorrhage, Pulmonary hemorr...	ORPHA:238459
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Renal artery aneurysm, Cutis marmorata, Portal hypertension, Raynaud phenomenon, Vasculitis, Dila...	OMIM:615688
Feingold Syndrome 2	Ventricular septal defect	OMIM:614326
Familial Multinodular Goiter	Hyperthyroidism, Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Multinodular...	ORPHA:276399
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Omphalocele, Neoplasm of the heart, Umbilical hernia, Polyhydramnios	ORPHA:2241
Von Willebrand Disease, Type 3	Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery, Menorrha...	OMIM:277480
Specc1L-Related Hypertelorism Syndrome	Omphalocele, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Umbilical...	ORPHA:1519
Robinow Syndrome, Autosomal Recessive 2	Ventral hernia, Omphalocele, Bicuspid aortic valve, Camptodactyly	OMIM:618529
Fadd-Related Immunodeficiency	Pulmonary artery atresia, Ventricular septal defect	ORPHA:306550
Yuan-Harel-Lupski Syndrome	Ventricular septal defect, Double outlet right ventricle, Bicuspid aortic valve, Aortic root aneu...	OMIM:616652
Anemia, Congenital Dyserythropoietic, Type Ib	Jaundice, Pallor	OMIM:615631
Retinitis Pigmentosa 51	Pallor	OMIM:613464
Congenital Dyserythropoietic Anemia Type Iii	Post-partum hemorrhage, Melena, Oral cavity bleeding, Pallor, Gingival bleeding	ORPHA:98870
Bladder Exstrophy	Omphalocele, Umbilical hernia, Inguinal hernia, Bladder exstrophy	ORPHA:93930
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2	Bruising susceptibility, Arterial rupture, Poor wound healing, Dermal translucency	OMIM:619120
Melnick-Needles Syndrome	Omphalocele, Abnormal cardiac septum morphology	ORPHA:2484
Acquired Idiopathic Sideroblastic Anemia	Abnormal bleeding, Congestive heart failure, Pallor	ORPHA:75564
Pericardial And Diaphragmatic Defect	Bicuspid aortic valve, Congenital diaphragmatic hernia, Patent ductus arteriosus, Abnormal heart ...	ORPHA:2847
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia	OMIM:616277
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Abnormal bleeding, Prolonged bleeding time, Epistaxis, Myocardial infarction, Menorrhagia, Bruisi...	OMIM:155100
Peroxisome Biogenesis Disorder 12A (Zellweger)	Atrial septal defect, Double outlet right ventricle, Patent ductus arteriosus	OMIM:614886
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Atrial septal defect, Ventricular septal defect	OMIM:608227
Ciliary Dyskinesia, Primary, 20	Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary...	OMIM:615067
Down Syndrome	Redundant neck skin, Ventricular septal defect, Complete atrioventricular canal defect, Patent du...	OMIM:190685
Bardet-Biedl Syndrome 19	Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Hypop...	OMIM:615996
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Tetralogy of Fallot, Ventricular septal defect, Congenital diaphragmatic hernia, Abnormal aortic ...	ORPHA:1166
Mixed-Type Autoimmune Hemolytic Anemia	Tachycardia, Pallor	ORPHA:90036
Microscopic Polyangiitis	Gastrointestinal hemorrhage, Pericarditis, Cutis marmorata, Epistaxis, Congestive heart failure, ...	ORPHA:727
Alg9-Cdg	Omphalocele, Tricuspid regurgitation, Ventricular septal defect, Lipodystrophy, Pericardial effus...	ORPHA:79328
Meckel Syndrome, Type 2	Encephalocele, Omphalocele, Meningocele, Anencephaly	OMIM:603194
Congenital Heart Defects, Multiple Types, 7	Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s...	OMIM:618780
Constricting Bands, Congenital	Encephalocele, Omphalocele, Gastroschisis, Ectopia cordis, Bladder exstrophy	OMIM:217100
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Overriding aorta, Ventricular septal defect, Nonimmune hydrops fetalis, Patent ductus arteriosus,...	OMIM:617021
Holt-Oram Syndrome	Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, P...	ORPHA:392
Axial Mesodermal Dysplasia Spectrum	Omphalocele, Congenital diaphragmatic hernia, Oligohydramnios	ORPHA:1834
Trisomy 18	Omphalocele, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia,...	ORPHA:3380
Bleeding Disorder, Platelet-Type, 12	Epistaxis, Intestinal bleeding, Menorrhagia, Bruising susceptibility, Joint hemorrhage	OMIM:605735
Craniorachischisis	Omphalocele, Congenital diaphragmatic hernia, Cervical spina bifida, Myelomeningocele, Anencephal...	ORPHA:63260
Hadziselimovic Syndrome	Ventricular hypertrophy, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Pu...	OMIM:612946
Attenuated Chédiak-Higashi Syndrome	Bruising susceptibility, Epistaxis, Skin ulcer, Gingival bleeding	ORPHA:352723
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy...	ORPHA:99889
Bleeding Disorder, Platelet-Type, 22	Subcutaneous hemorrhage, Excessive bleeding from superficial cuts	OMIM:618462
Primary Non-Essential Cutis Verticis Gyrata	Atrial septal defect, Keloids, Ventricular septal defect	ORPHA:357225
Mmep Syndrome	Ventricular septal defect	ORPHA:3434
Eisenmenger Syndrome	Ventricular tachycardia, Pedal edema, Aortopulmonary window, Bacterial endocarditis, Supraventric...	ORPHA:97214
Xk Aprosencephaly Syndrome	Atrial septal defect, Ventricular septal defect, Polyhydramnios	ORPHA:3469
Leishmaniasis	Abnormal bleeding, Pallor, Skin ulcer	ORPHA:507
Lethal Congenital Contracture Syndrome 2	Ventricular septal defect, Polyhydramnios, Edema, Dilated cardiomyopathy, Arthrogryposis multiple...	OMIM:607598
Weill-Marchesani Syndrome	Aortic valve stenosis, Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis	ORPHA:3449
Granulomatosis With Polyangiitis	Gastrointestinal hemorrhage, Pericarditis, Recurrent intrapulmonary hemorrhage, Angina pectoris, ...	ORPHA:900
Miller-Dieker Lissencephaly Syndrome	Omphalocele, Inguinal hernia, Polyhydramnios, Abnormality of the abdominal wall, Abnormal heart m...	OMIM:247200
Kawasaki Disease	Pericarditis, Abnormal heart valve morphology, Edema, Myocarditis, Congestive heart failure, Vasc...	ORPHA:2331
Li-Campeau Syndrome	Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale	OMIM:619189
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Hematochezia, Abnormal bleeding, Anemic pallor, Edema	ORPHA:329971
22Q11.2 Deletion Syndrome	Polyhydramnios, Abnormal aortic arch morphology, Atrial septal defect, Abnormal dental enamel mor...	ORPHA:567
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Cutis marmorata, Ventricular septal defect, Hernia	OMIM:602501
Refractory Anemia With Excess Blasts	Abnormal bleeding, Anemic pallor, Retinal hemorrhage, Pedal edema, Palpitations	ORPHA:86839
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D...	OMIM:613426
Wolcott-Rallison Syndrome	Jaundice, Dehydration, Atrial septal defect, Double outlet right ventricle, Ascites	ORPHA:1667
Ehlers-Danlos Syndrome, Periodontal Type, 1	Prominent superficial veins, Inguinal hernia, Poor wound healing, Hiatus hernia, Atrophic scars, ...	OMIM:130080
Hydrocephaly-Low Insertion Umbilicus Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary venous return, Hernia of the a...	ORPHA:2184
46,Xx Sex Reversal 5	Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect, Aplasia of the ...	OMIM:618901
Holoprosencephaly	Encephalocele, Omphalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Conge...	ORPHA:2162
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Inguinal hernia, Ventricular septal defect, Pulmonary artery stenosis, Dry skin, Contracture of t...	OMIM:280000
Global Developmental Delay With Or Without Impaired Intellectual Development	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:618330
Microphthalmia, Syndromic 9	Atrial septal defect, Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia...	OMIM:601186
Right Pulmonary Artery, Anomalous Origin Of, Familial	Patent ductus arteriosus, Anomalous origin of right pulmonary artery from ascending aorta, Coarct...	OMIM:610338
Short Stature, Developmental Delay, And Congenital Heart Defects	Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect	OMIM:617044
Dravet Syndrome	Cyanotic episode, Pallor	ORPHA:33069
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Hydranencephaly, Truncus arteriosus, Ventricular septal defect	OMIM:601355
Colonic Atresia	Omphalocele, Gastroschisis	ORPHA:1198
Codas Syndrome	Omphalocele, Ventricular septal defect, Polyhydramnios, Atrial septal defect, Atrioventricular ca...	OMIM:600373
Trigonocephaly With Short Stature And Developmental Delay	Inguinal hernia, Ventricular septal defect	OMIM:314320
Osteopathia Striata With Cranial Sclerosis	Omphalocele, Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Spina bifida oc...	OMIM:300373
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Stroke, Atrial septal defect, ...	OMIM:249270
Acute Generalized Exanthematous Pustulosis	Skin vesicle, Facial edema, Scaling skin, Purpura	ORPHA:293173
Hereditary Hemorrhagic Telangiectasia	Conjunctival telangiectasia, Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Trans...	ORPHA:774
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Abnormal aortic morphology, Abnormal ...	ORPHA:3405
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Omphalocele, Atrial septal defect, Inguinal hernia, Perianal erythema, Hypertension, Ectodermal d...	OMIM:308205
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Inguinal hernia, Ventricular septal defect	ORPHA:3369
Rin2 Syndrome	Redundant skin, Upper eyelid edema, Umbilical hernia, Bruising susceptibility, Aortic aneurysm	ORPHA:217335
Hermansky-Pudlak Syndrome 3	Abnormal bleeding, Spontaneous, recurrent epistaxis, Bruising susceptibility, Gingival bleeding	OMIM:614072
Ehlers-Danlos Syndrome, Classic Type, 1	Inguinal hernia, Poor wound healing, Cigarette-paper scars, Mitral valve prolapse, Aortic root an...	OMIM:130000
Marshall-Smith Syndrome	Omphalocele, Ventricular septal defect, Patent ductus arteriosus, Premature ventricular contracti...	OMIM:602535
Non-Syndromic Posterior Hypospadias	Omphalocele, Congenital diaphragmatic hernia	ORPHA:95706
Simpson-Golabi-Behmel Syndrome	Prolonged QT interval, Bundle branch block, Inguinal hernia, Omphalocele, Ventricular septal defe...	ORPHA:373
Meacham Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Patent ductus...	ORPHA:3097
Hereditary Spherocytosis	Restrictive cardiomyopathy, Jaundice, Pallor, Skin ulcer	ORPHA:822
Cardiac-Valvular Ehlers-Danlos Syndrome	Aortic regurgitation, Pulmonary insufficiency, Inguinal hernia, Tricuspid regurgitation, Abnormal...	ORPHA:230851
Hereditary Pheochromocytoma-Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Flushing, Palpitations, Pallor, Positive regitine ...	ORPHA:29072
Ogden Syndrome	Inguinal hernia, Ventricular septal defect, Pulmonary artery stenosis, Cutis laxa, Cardiogenic sh...	ORPHA:276432
Beta-Ketothiolase Deficiency	Edema, Dehydration, Hypertension, Pallor, Hypotension	ORPHA:134
3-Hydroxy-3-Methylglutaric Aciduria	Cardiac arrest, Edema, Jaundice, Dilated cardiomyopathy, Dehydration, Prolonged prothrombin time,...	ORPHA:20
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Spontaneous, recurrent epistaxis, Mitral valve calcification, Poor wound healing, Aortic valve ca...	ORPHA:2072
Shigellosis	Myocarditis, Dehydration, Urticaria, Hypovolemic shock, Purpura	ORPHA:810
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Jaundice, Pallor	OMIM:613839
Heart Defects, Congenital, And Other Congenital Anomalies	Double outlet left ventricle, Inguinal hernia, Ventricular septal defect, Congenital diaphragmati...	OMIM:600001
Hermansky-Pudlak Syndrome 7	Prolonged bleeding time, Epistaxis, Post-partum hemorrhage, Menorrhagia, Bruising susceptibility,...	OMIM:614076
14Q24.1Q24.3 Microdeletion Syndrome	Ventricular septal defect, Abnormal heart morphology, Atrial septal defect, Truncus arteriosus, P...	ORPHA:401935
Irida Syndrome	Pallor	ORPHA:209981
Transposition Of The Great Arteries, Dextro-Looped	Transposition of the great arteries	OMIM:608808
Li-Ghorbani-Weisz-Hubshman Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:618974
Alpha-2-Plasmin Inhibitor Deficiency	Bruising susceptibility, Joint hemorrhage, Persistent bleeding after trauma, Hemothorax	OMIM:262850
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arterios...	ORPHA:284169
Fetal Trimethadione Syndrome	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ...	ORPHA:1913
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Abnormal bleeding, Inguinal hernia, Widened atrophic scar, Poor wound healing, Congestive heart f...	ORPHA:1900
Lymphedema-Distichiasis Syndrome	Ventricular septal defect, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphe...	OMIM:153400
Developmental And Epileptic Encephalopathy 89	Neonatal death, Flexion contracture, Omphalocele	OMIM:619124
Tay-Sachs Disease	Cherry red spot of the macula, Pallor	OMIM:272800
Otopalatodigital Syndrome Type 2	Encephalocele, Omphalocele, Abnormal heart valve morphology, Camptodactyly of finger, Myelomening...	ORPHA:90652
Quebec Platelet Disorder	Menorrhagia, Bruising susceptibility, Joint hemorrhage, Epistaxis	OMIM:601709
Cone-Rod Dystrophy 8	Retinal arteriolar constriction, Pallor	OMIM:605549
Idiopathic Hypereosinophilic Syndrome	Transient ischemic attack, Cutis marmorata, Supraventricular arrhythmia, Pulmonary embolism, Rayn...	ORPHA:3260
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Ventricular septal defect, Cutis marmorata, Patent ductus arteriosus, Umbilical hernia, Hypertrop...	OMIM:612938
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Omphalocele, Polyhydramnios, Abnormal cardiac septum morphology, Umbilical hernia	ORPHA:2166
Kagami-Ogata Syndrome	Omphalocele, Inguinal hernia, Diastasis recti, Polyhydramnios, Large placenta	ORPHA:254519
Atelis Syndrome 1	Atrial septal defect, Dry skin, Ventricular septal defect	OMIM:620184
Polysyndactyly With Cardiac Malformation	Atrial septal defect, Stillbirth, Ventricular septal defect, Polyhydramnios	OMIM:263630
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Omphalocele, Redundant neck skin, Ventricular septal defect, Interphalangeal joint contracture of...	ORPHA:96334
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Encephalocele, Patent ductus arteriosus, Stillbirth, Omphalocele	OMIM:616300
Polycythemia Vera	Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Pulmonary embolism,...	ORPHA:729
Pyruvate Kinase Deficiency Of Red Cells	Jaundice, Nonimmune hydrops fetalis, Pallor	OMIM:266200
Chromosome 5Q12 Deletion Syndrome	Ventricular septal defect, Patent ductus arteriosus, Increased nuchal translucency, Hypotension, ...	OMIM:615668
Relapsing Polychondritis	Abnormal endocardium morphology, Pericarditis, Myocarditis, Erythema, Large vessel vasculitis, Ab...	ORPHA:728
Intellectual Developmental Disorder, Autosomal Recessive 79	Ventricular septal defect	OMIM:620393
Fryns Syndrome	Omphalocele, Ventricular septal defect, Polyhydramnios, Stillbirth, Aplasia of the left hemidiaph...	OMIM:229850
Dominant Beta-Thalassemia	High-output congestive heart failure, Jaundice, Dilated cardiomyopathy, Skin ulcer, Pallor, Arrhy...	ORPHA:231226
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Tachycardia, Pallor	ORPHA:263455
Loeys-Dietz Syndrome 4	Inguinal hernia, Bicuspid aortic valve, Arterial tortuosity, Mitral valve prolapse, Ascending tub...	OMIM:614816
Agel Amyloidosis	Edema, Xerostomia, Bruising susceptibility, Cutis laxa, Cardiomyopathy, Blepharochalasis, Arrhyth...	ORPHA:85448
Al Amyloidosis	Gastrointestinal hemorrhage, Abnormal EKG, Abnormal cardiac ventricle morphology, Jaw claudicatio...	ORPHA:85443
Congenital Alveolar Capillary Dysplasia	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Pulmonary valve atres...	ORPHA:210122
Viss Syndrome	Tortuous cerebral arteries, Epidural hemorrhage, Prominent superficial blood vessels, Polyhydramn...	OMIM:619472
Melnick-Needles Syndrome	Omphalocele, Mitral valve prolapse, Stillbirth, Tricuspid valve prolapse, Pulmonary arterial hype...	OMIM:309350
Frank-Ter Haar Syndrome	Redundant neck skin, Ventricular septal defect, Secundum atrial septal defect, Mitral valve prola...	OMIM:249420
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Pallor	OMIM:611590
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Patent ductus arteriosus, Contracture of the proximal interphalangeal joint of the 4th finger, Pu...	OMIM:618223
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Redundant neck skin, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, P...	ORPHA:2519
Bartsocas-Papas Syndrome 1	Omphalocele, Inguinal hernia, Flexion contracture, Arthrogryposis multiplex congenita, Dry skin, ...	OMIM:263650
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Ventricular septal defect, Hiatus hernia, Patent ductus arteriosus, Atrial septal defect, Umbilic...	OMIM:619769
Von Hippel-Lindau Disease	Myocardial infarction, Myocarditis, Macular edema, Abnormal left ventricular function, Cardiomyop...	ORPHA:892
Diabetic Embryopathy	Ventricular septal defect, Aplasia/Hypoplasia of the abdominal wall musculature, Spinal dysraphis...	ORPHA:1926
Beta-Thalassemia Intermedia	High-output congestive heart failure, Jaundice, Skin ulcer, Pallor, Pulmonary arterial hypertension	ORPHA:231222
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Neonatal death, Ventricular septal defect	OMIM:613730
Otopalatodigital Syndrome, Type I	Omphalocele	OMIM:311300
Okamoto Syndrome	Omphalocele, Redundant neck skin, Ventricular septal defect, Abnormal left ventricle morphology, ...	ORPHA:2729
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Contracture of the proximal interphalangeal joint of the 2nd finger, Poor wound healing, Atrophic...	OMIM:130060
Ablepharon Macrostomia Syndrome	Omphalocele, Redundant skin, Camptodactyly of finger, Excessive wrinkled skin, Umbilical hernia, ...	ORPHA:920
Senior-Loken Syndrome 8	Pallor, Vascular dilatation	OMIM:616307
Isotretinoin-Like Syndrome	Inguinal hernia, Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Patent ductus arte...	ORPHA:2306
Fumarase Deficiency	Reduced subcutaneous adipose tissue, Polyhydramnios, Perimembranous ventricular septal defect, Pa...	OMIM:606812
Serkal Syndrome	Congenital diaphragmatic hernia, Ventricular septal defect, Pulmonic stenosis, Oligohydramnios	ORPHA:139466
Myoectodermal Gonadal Dysgenesis Syndrome	Omphalocele, Diastasis recti, Dry skin, Scaling skin	OMIM:618419
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Fetal ascites, Ascending aorta hypoplasia, Flexion contracture, Facial erythema, Knee flexion con...	OMIM:619503
Iniencephaly	Encephalocele, Omphalocele, Spina bifida, Congenital diaphragmatic hernia, Polyhydramnios, Myelom...	ORPHA:63259
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Inguinal hernia, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Atri...	ORPHA:329224
Prune Belly Syndrome	Ventricular septal defect, Patent ductus arteriosus, Aplasia of the abdominal wall musculature, A...	ORPHA:2970
Cardiofaciocutaneous Syndrome 3	Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis	OMIM:615279
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Omphalocele	ORPHA:3035
Postinfectious Vasculitis	Cerebral vasculitis, Palpable purpura, Cutis marmorata, Raynaud phenomenon, Cardiomyopathy, Hyper...	ORPHA:48435
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Ventricular septal defect	OMIM:235750
Cold Agglutinin Disease	Pallor	ORPHA:56425
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morpho...	ORPHA:500159
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Truncus arteriosus, Abnormal aortic morphology, Ventricular septal defect	ORPHA:2516
Transaldolase Deficiency	Ventricular septal defect, Patent ductus arteriosus, Telangiectasia, Coarctation of aorta, Atrial...	OMIM:606003
Myh9-Related Disease	Spontaneous, recurrent epistaxis, Prolonged bleeding time, Myocardial infarction, Menorrhagia, Br...	ORPHA:182050
Noonan Syndrome 2	Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Polyhydramnios, Pate...	OMIM:605275
Noonan Syndrome 9	Prolonged prothrombin time, Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta	OMIM:616559
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ...	OMIM:620066
8P23.1 Microdeletion Syndrome	Congenital diaphragmatic hernia, Patent ductus arteriosus, Pulmonary artery stenosis, Hypertrophi...	ORPHA:251071
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hypertension, Purpura	OMIM:235400
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pallor	OMIM:600462
Chromosome 15Q14 Deletion Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:616898
Cutis Laxa, Autosomal Recessive, Type Iib	Prominent superficial veins, Inguinal hernia, Redundant skin, Lack of skin elasticity, Excessive ...	OMIM:612940
Noonan Syndrome 10	Mitral stenosis, Ventricular septal defect, Patent ductus arteriosus, Increased nuchal translucen...	OMIM:616564
Systemic Mastocytosis With Associated Hematologic Neoplasm	Tachycardia, Urticaria, Syncope, Pallor, Hypotension, Flushing	ORPHA:98849
Tatton-Brown-Rahman Syndrome	Tricuspid regurgitation, Ventricular septal defect, Mitral regurgitation, Atrial septal defect, U...	OMIM:615879
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation	Ventricular septal defect	OMIM:209770
Alternating Hemiplegia Of Childhood	Cardiac conduction abnormality, Dehydration, Cardiomyopathy, Pallor, Abnormal T-wave, Arrhythmia,...	ORPHA:2131
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Pallor	OMIM:246450
15Q11.2 Microdeletion Syndrome	Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo...	ORPHA:261183
Spondyloenchondrodysplasia With Immune Dysregulation	Raynaud phenomenon, Joint swelling, Purpura	OMIM:607944
Congenital Disorder Of Glycosylation, Type Iif	Aortic regurgitation, Subcutaneous hemorrhage, Pulmonary hemorrhage	OMIM:603585
Hypotonia, Infantile, With Psychomotor Retardation	Ventricular septal defect	OMIM:616816
Retinitis Pigmentosa 75	Pallor	OMIM:617023
Chromosome 6Pter-P24 Deletion Syndrome	Ventricular septal defect, Patent ductus arteriosus, Telangiectasia, Atrial septal defect, Umbili...	OMIM:612582
Elliptocytosis 1	Jaundice, Pallor	OMIM:611804
Beta-Thalassemia Major	High-output congestive heart failure, Jaundice, Dilated cardiomyopathy, Skin ulcer, Pallor, Arrhy...	ORPHA:231214
Emanuel Syndrome	Inguinal hernia, Ventricular septal defect, Truncus arteriosus, Congenital diaphragmatic hernia, ...	OMIM:609029
Anemia, Sideroblastic, 1	Anemic pallor	OMIM:300751
Anemia, Hypochromic Microcytic, With Iron Overload 2	Pallor	OMIM:615234
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Ventricular septal defect	OMIM:618506
Tibial Aplasia-Ectrodactyly Syndrome	Omphalocele	ORPHA:3329
Congenital Rubella Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Jaundice	ORPHA:290
Congenital Disorder Of Glycosylation, Type Iil	Abnormal bleeding, Peau d'orange, Ventricular septal defect, Patent ductus arteriosus, Atrial sep...	OMIM:614576
8Q12 Microduplication Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:228399
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Inguinal hernia, Redundant skin, Atrophic scars, Blepharochalasis, Gingival bleeding, Umbilical h...	OMIM:225410
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Inguinal hernia, Tricuspid regurgitation, Redundant umbilical skin, Polyhydramnios, Patent ductus...	OMIM:614557
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic right heart	OMIM:618142
Beckwith-Wiedemann Syndrome	Omphalocele, Inguinal hernia, Redundant skin, Congenital diaphragmatic hernia, Cardiomegaly, Dias...	ORPHA:116
Chromosome 1P36 Deletion Syndrome, Proximal	Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov...	OMIM:619343
Emanuel Syndrome	Inguinal hernia, Redundant neck skin, Ventricular septal defect, Truncus arteriosus, Multiple joi...	ORPHA:96170
Cardiac-Urogenital Syndrome	Prolonged bleeding time, Cor triatrium sinister, Tachycardia, Ventricular septal defect, Dextroca...	OMIM:618280
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Pallor	ORPHA:13
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Atypical scarring of skin, Varicose veins, Atrophic scars, Camptodactyly, Pulmonic stenosis, Aort...	OMIM:618343
3C Syndrome	Inguinal hernia, Ventricular septal defect, Abnormal mitral valve morphology, Abnormal tricuspid ...	ORPHA:7
Combined Immunodeficiency-Enteropathy Spectrum	Omphalocele, Ventricular septal defect, Polyhydramnios	ORPHA:436252
Aregenerative Anemia	Abnormal bleeding, Bruising susceptibility, Pallor	ORPHA:101096
Meckel Syndrome, Type 1	Omphalocele, Occipital encephalocele, Camptodactyly of finger, Large placenta, Patent ductus arte...	OMIM:249000
Contractural Arachnodactyly, Congenital	Hip contracture, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Elbo...	OMIM:121050
Distal Deletion 15Q	Bicuspid aortic valve, Mitral atresia, Congenital diaphragmatic hernia, Double outlet right ventr...	ORPHA:1596
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Spina bifida occulta, Perimembranous ventricular septal defect, Transposition of the great arteri...	OMIM:617877
Noonan Syndrome 4	Abnormal bleeding, Ventricular septal defect, Polyhydramnios, Pulmonic stenosis, Atrial septal de...	OMIM:610733
Aneurysm-Osteoarthritis Syndrome	Abdominal aortic aneurysm, Arterial tortuosity, Patent ductus arteriosus, Pulmonic stenosis, Uter...	ORPHA:284984
Costello Syndrome	Ventricular septal defect, Redundant skin, Abnormal dental enamel morphology, Polyhydramnios, Lac...	ORPHA:3071
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Omphalocele, Overriding aorta, Tetralogy of Fallot	ORPHA:3186
Intellectual Developmental Disorder, Autosomal Dominant 48	Patent ductus arteriosus, Umbilical hernia, Ventricular septal defect, Bicuspid aortic valve	OMIM:617751
Menkes Disease	Gastrointestinal hemorrhage, Inguinal hernia, Venous insufficiency, Aplasia/Hypoplasia of the abd...	ORPHA:565
Fibrochondrogenesis	Omphalocele, Camptodactyly of finger	ORPHA:2021
Noonan Syndrome 13	Lymphedema, Mitral valve prolapse, Mitral regurgitation, Atrial septal defect, Dry skin, Bruising...	OMIM:619087
Adiposis Dolorosa	Xerostomia, Dry skin, Telangiectasia of the skin, Bruising susceptibility	ORPHA:36397
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10	Descending aortic dissection, Bruising susceptibility, Ascending aortic dissection	OMIM:620080
Imerslund-Gräsbeck Syndrome	Abnormal bleeding, Tachycardia, Pallor	ORPHA:35858
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Ventricular septal defect	ORPHA:94066
Fructose-1,6-Bisphosphatase Deficiency	Tachycardia, Pallor	ORPHA:348
Inverted Duplicated Chromosome 15 Syndrome	Tetralogy of Fallot, Ventricular septal defect, Hernia	ORPHA:3306
Loeys-Dietz Syndrome 3	Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys...	OMIM:613795
Desbuquois Syndrome	Aplasia/Hypoplasia of the abdominal wall musculature, Ventricular septal defect, Camptodactyly of...	ORPHA:1425
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Double outlet left ventricle, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ...	ORPHA:2255
Macs Syndrome	Prolonged bleeding time, Dilation of Virchow-Robin spaces, Palpebral edema, Redundant skin, Cutis...	OMIM:613075
Congenital Tracheomalacia	Cyanosis, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pu...	ORPHA:95430
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Tachycardia, Ventricular septal defect, Pericardial effusion, Jaundice, Di...	ORPHA:26793
Kleefstra Syndrome Due To 9Q34 Microdeletion	Aortic regurgitation, Inguinal hernia, Femoral hernia, Conotruncal defect, Coarctation of aorta, ...	ORPHA:96147
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Ventricular septal defect, Increased nuchal translucency, Coarctation of aorta, Abnormal heart mo...	OMIM:618494
Hermansky-Pudlak Syndrome 4	Abnormal bleeding, Bruising susceptibility, Menorrhagia, Epistaxis	OMIM:614073
Charge Syndrome	Omphalocele, Overriding aorta, Ventricular septal defect, Polyhydramnios, Secundum atrial septal ...	OMIM:214800
Classical-Like Ehlers-Danlos Syndrome Type 2	Ventral hernia, Inguinal hernia, Widened atrophic scar, Redundant skin, Carotid artery stenosis, ...	ORPHA:536532
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Ventricular septal defect, Knee flexion contracture, Vascular ring, Mitral regurgitation, Atrial ...	OMIM:603387
Hydrolethalus Syndrome 1	Omphalocele, Ventricular septal defect, Polyhydramnios, Complete atrioventricular canal defect, A...	OMIM:236680
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Inguinal hernia, Redundant neck skin, Ventricular septal defect, Polyhydramnios, Thyroid lymphang...	OMIM:235255
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Ventricular septal defect, Mitral regurgitation, Aortic root aneurysm, Camptodactyly, Atrial sept...	OMIM:301039
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula...	OMIM:615474
Pauci-Immune Glomerulonephritis	Purpura, Small vessel vasculitis, Arteritis, Pulmonary hemorrhage	ORPHA:93126
Cloacal Exstrophy	Omphalocele, Spina bifida, Myelomeningocele, Bladder exstrophy, Cloacal exstrophy	ORPHA:93929
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Dextrocardia, Polyhydramnios, Transposition of the great arteries, Neonatal death, Atrioventricul...	OMIM:314390
Cooper-Jabs Syndrome	Umbilical hernia, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic he...	ORPHA:1488
Common Variable Immunodeficiency	Vasculitis, Purpura	ORPHA:1572
Microphthalmia, Syndromic 2	Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Hypoplastic aortic arch, Flexi...	OMIM:300166
De Barsy Syndrome	Inguinal hernia, Ventricular septal defect, Lipodystrophy, Progeroid facial appearance, Patent du...	ORPHA:2962
Oculoauriculofrontonasal Syndrome	Encephalocele, Pericallosal lipoma, Ventricular septal defect	ORPHA:398156
Hypoplastic Left Heart Syndrome 2	Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia	OMIM:614435
Holoprosencephaly 13, X-Linked	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Double outlet right ...	OMIM:301043
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Tricuspid regurgitation, Ventricular septal defect, Patent ductus arteriosus, Increased nuchal tr...	OMIM:618870
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Ventricular septal defect, Polyhydramnios, Cardiomegaly, Flexion contracture, Hydrops fetalis, Pl...	OMIM:616897
Burn-Mckeown Syndrome	Atrial septal defect, Inguinal hernia, Ventricular septal defect	OMIM:608572
Loeys-Dietz Syndrome 5	Reduced subcutaneous adipose tissue, Inguinal hernia, Ventricular septal defect, Hiatus hernia, M...	OMIM:615582
22Q11.2 Duplication Syndrome	Ventricular septal defect, Hypoplastic left heart, Transposition of the great arteries, Interrupt...	ORPHA:1727
Myopathy, Mitochondrial, And Ataxia	Multiple lipomas, Pallor	OMIM:617675
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Ventricular septal defect, Coarctation of aorta	OMIM:620210
Warsaw Breakage Syndrome	Tetralogy of Fallot, Ventricular septal defect, Cutis marmorata	OMIM:613398
Acrocephalopolydactylous Dysplasia	Omphalocele, Ascites	OMIM:200995
Letterer-Siwe Disease	Jaundice, Pallor	OMIM:246400
Keutel Syndrome	Pulmonary arterial hypertension, Pulmonary artery stenosis, Ventricular septal defect	ORPHA:85202
Methimazole Embryofetopathy	Abnormal aortic morphology, Ventricular septal defect, Polyhydramnios, Coarctation of aorta	ORPHA:1923
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Ventricular septal defect, Abnormal heart morphology, Arthrogryposis-like hand anomaly, Camptodac...	ORPHA:369891
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Hyper...	OMIM:618775
Non-Functioning Pituitary Adenoma	Increased intraabdominal fat, Pallor, Hypotension	ORPHA:91349
Marfanoid-Progeroid-Lipodystrophy Syndrome	Reduced subcutaneous adipose tissue, Lipoatrophy, Progeroid facial appearance, Absence of subcuta...	OMIM:616914
Diamond-Blackfan Anemia 1	Ventricular septal defect, Tricuspid stenosis, Congestive heart failure, Coarctation of aorta, Pa...	OMIM:105650
Musculocontractural Ehlers-Danlos Syndrome	Abnormal bleeding, Inguinal hernia, Abnormal heart valve morphology, Redundant skin, Abnormal hea...	ORPHA:2953
Jansen-De Vries Syndrome	Ventricular septal defect, Bicuspid aortic valve, Central diaphragmatic hernia	OMIM:617450
Bannayan-Riley-Ruvalcaba Syndrome	Angina pectoris, Cutis marmorata, Lymphedema, Telangiectasia, Intracranial hemorrhage, Arterioven...	ORPHA:109
Suleiman-El-Hattab Syndrome	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Inguinal hernia	OMIM:618950
Gm1 Gangliosidosis	Inguinal hernia, Ventricular septal defect, Camptodactyly of finger, Congestive heart failure, Pa...	ORPHA:354
Meester-Loeys Syndrome	Poor wound healing, Mitral valve prolapse, Ascending tubular aorta aneurysm, Dilatation of the ce...	OMIM:300989
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Abnormal bleeding, Ventricular septal defect, Jaundice, Oligohydramnios, Dehydration, Atrial sept...	OMIM:208085
Exstrophy-Epispadias Complex	Omphalocele, Inguinal hernia, Spina bifida, Cystocele, Abnormality of the abdominal wall, Abnorma...	ORPHA:322
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Ventricular septal defect, Hypoplastic left heart	ORPHA:2772
Noonan Syndrome 14	Aortic regurgitation, Polyhydramnios, Mitral valve prolapse, Pulmonic stenosis, Hypertrophic card...	OMIM:619745
Autosomal Recessive Malignant Osteopetrosis	Abnormal pulmonary valve morphology, Pulmonary artery stenosis, Pallor, Pulmonary arterial hypert...	ORPHA:667
Joubert Syndrome 18	Occipital encephalocele, Ventricular septal defect, Camptodactyly	OMIM:614815
Primary Sjögren Syndrome	Cutis marmorata, Raynaud phenomenon, Vasculitis, Xerostomia, Skin ulcer, Arteritis, Dry skin, Pur...	ORPHA:289390
Tyshchenko Syndrome	Atrial septal defect, Polyhydramnios, Ventricular septal defect, Pulmonic stenosis	OMIM:615102
Periventricular Nodular Heterotopia 7	Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular septal defect, E...	OMIM:617201
Cat Eye Syndrome	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Total anomalous pulm...	OMIM:115470
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Abnormal vena cava morphology, Inguinal hernia, Ventricular septal defect, Heart murmur	ORPHA:166035
Fanconi Anemia, Complementation Group C	Flexion contracture, Ventricular septal defect, Anemic pallor, Bruising susceptibility	OMIM:227645
15Q14 Microdeletion Syndrome	Atrial septal defect, Inguinal hernia, Ventricular septal defect	ORPHA:261190
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Ventricular septal defect, Situs inversus totalis, Meningocele, Anencephaly, Spina...	ORPHA:1908
Gray Platelet Syndrome	Abnormal bleeding, Prolonged bleeding time, Epistaxis, Menorrhagia, Bruising susceptibility	OMIM:139090
Sheehan Syndrome	Orthostatic hypotension, Palpitations, Bradycardia, Pallor, Dry skin	ORPHA:91355
Pituitary Apoplexy	Hypertension, Pallor, Hypotension	ORPHA:95613
Ablepharon-Macrostomia Syndrome	Ventral hernia, Omphalocele, Redundant skin, Camptodactyly, Premature skin wrinkling, Dry skin	OMIM:200110
Developmental And Epileptic Encephalopathy 66	Atrial septal defect, Ventricular septal defect, Dextrocardia	OMIM:618067
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Prominent superficial veins, Camptodactyly of finger, Cigarette-paper scars, Joint contracture of...	OMIM:612350
Roifman Syndrome	Hip contracture, Noncompaction cardiomyopathy, Ventricular septal defect	OMIM:616651
Plummer-Vinson Syndrome	Pallor	ORPHA:54028
Chromosome 18Q Deletion Syndrome	Inguinal hernia, Absence of the pulmonary valve, Ventricular septal defect, Congestive heart fail...	OMIM:601808
Noonan Syndrome 3	Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Mitral valve prolapse, Pulmo...	OMIM:609942
Gaucher Disease Type 1	Pericardial effusion, Pedal edema, Pulmonary arterial hypertension, Gingival bleeding, Abnormal m...	ORPHA:77259
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Flexion contracture, Bruising susceptibility	ORPHA:157965
Doors Syndrome	Adrenal hyperplasia, Capillary hemangioma, Congenital hypothyroidism	ORPHA:79500
Childhood Absence Epilepsy	Pallor	ORPHA:64280
Classic Homocystinuria	Gastrointestinal hemorrhage, Pulmonary embolism, Intracranial hemorrhage, Hypertension, Urticaria...	ORPHA:394
Incontinentia Pigmenti	Scarring, Pallor, Erythema, Retinal hemorrhage	OMIM:308300
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Tachycardia, Ventricular septal defect, Erythema, Flexion contracture, Retinal hemorrhage, Cornea...	OMIM:614653
Intellectual Developmental Disorder, Autosomal Recessive 71	Prune belly, Ventricular septal defect	OMIM:618504
Fanconi Anemia, Complementation Group E	Bruising susceptibility, Anemic pallor, Abnormal heart morphology	OMIM:600901
Brittle Cornea Syndrome 2	Umbilical hernia, Inguinal hernia, Bruising susceptibility	OMIM:614170
Brucellosis	Pericarditis, Transient ischemic attack, Myocarditis, Endocarditis, Abnormal aortic valve morphol...	ORPHA:1304
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Jaundice, Pallor, Prolonged neonatal jaundice	OMIM:300908
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Pericardial lymphangiectasia, Ventricular septal defect, Nonimmune hydrops fetalis, Thyroid lymph...	OMIM:235510
Velocardiofacial Syndrome	Inguinal hernia, Ventricular septal defect, Interrupted aortic arch, Pulmonary artery atresia, Um...	OMIM:192430
Adenohypophysitis	Orthostatic hypotension, Pallor	ORPHA:95512
Infection-Related Hemolytic Uremic Syndrome	Edema, Myocarditis, Hypertension, Pleural empyema, Pallor, Hypertensive crisis, Generalized edema	ORPHA:544482
Syndromic Diarrhea	Aortic regurgitation, Inguinal hernia, Ventricular septal defect, Bicuspid aortic valve, Patent d...	ORPHA:84064
Trisomy 13	Ventricular septal defect, Patent ductus arteriosus, Hydrops fetalis, Hernia, Atrial septal defect	ORPHA:3378
Intellectual Developmental Disorder, Autosomal Dominant 66	Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra...	OMIM:619910
Degcags Syndrome	Tachycardia, Ventricular septal defect, Polyhydramnios, Hiatus hernia, Patent ductus arteriosus, ...	OMIM:619488
Beckwith-Wiedemann Syndrome	Omphalocele, Cardiomyopathy, Diastasis recti, Cardiomegaly	OMIM:130650
Tsh-Secreting Pituitary Adenoma	Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Hypertension, Palpit...	ORPHA:91347
Filippi Syndrome	Ventricular septal defect	OMIM:272440
Histiocytosis-Lymphadenopathy Plus Syndrome	Ventricular septal defect, Camptodactyly of finger, Cardiomegaly, Patent ductus arteriosus, Elbow...	OMIM:602782
Recombinant 8 Syndrome	Ventricular septal defect, Redundant skin, Camptodactyly of finger, Pulmonary artery stenosis, Pa...	ORPHA:96167
Phaver Syndrome	Ventricular septal defect, Camptodactyly of finger, Myelomeningocele, Hypoplastic aortic arch, Co...	ORPHA:2876
Hereditary Folate Malabsorption	Pallor	ORPHA:90045
Weill-Marchesani Syndrome 2	Ventricular septal defect, Congestive heart failure, Patent ductus arteriosus, Elbow flexion cont...	OMIM:608328
Fanconi Anemia, Complementation Group A	Bruising susceptibility, Anemic pallor, Abnormal heart morphology	OMIM:227650
Panhypophysitis	Orthostatic hypotension, Pallor	ORPHA:95513
Lethal Omphalocele-Cleft Palate Syndrome	Omphalocele	ORPHA:2736
Stormorken Syndrome	Abnormal bleeding, Epistaxis, Subarachnoid hemorrhage, Stroke-like episode, Bruising susceptibility	OMIM:185070
Loeys-Dietz Syndrome	Abnormal bleeding, Striae distensae, Cardiac arrest, Camptodactyly of finger, Arterial tortuosity...	ORPHA:60030
Acitretin/Etretinate Embryopathy	Third degree atrioventricular block, Atrioventricular canal defect, Bradycardia, Conotruncal defect	ORPHA:40366
Diamond-Blackfan Anemia	Radial artery aplasia, Ventricular septal defect, Nonimmune hydrops fetalis, Coarctation of aorta...	ORPHA:124
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Ventricular septal defect, Polyhydramnios	ORPHA:2256
Coffin-Siris Syndrome 7	Ventricular septal defect, Bicuspid aortic valve, Polyhydramnios, Patent foramen ovale, Oligohydr...	OMIM:618027
Skraban-Deardorff Syndrome	Right aortic arch, Ventricular septal defect	OMIM:617616
Pelger-Huet Anomaly	Umbilical hernia, Ventricular septal defect	OMIM:169400
Alpha-Thalassemia-Myelodysplastic Syndrome	Abnormal bleeding, Bruising susceptibility	ORPHA:231401
3P25.3 Microdeletion Syndrome	Ventricular septal defect, Patent ductus arteriosus, Knee flexion contracture, Pulmonic stenosis,...	ORPHA:435638
Delpire-Mcneill Syndrome	Ventricular septal defect	OMIM:619083
Focal Dermal Hypoplasia	Omphalocele, Inguinal hernia, Diastasis recti, Congenital diaphragmatic hernia, Hiatus hernia, My...	OMIM:305600
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Pallor	OMIM:194380
Pontocerebellar Hypoplasia, Type 17	Secundum atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:619909
C Syndrome	Omphalocele, Redundant skin, Polyhydramnios, Congenital diaphragmatic hernia, Aplasia/Hypoplasia ...	ORPHA:1308
Isolated Klippel-Feil Syndrome	Ventricular septal defect, Spina bifida	ORPHA:2345
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Ventricular septal defect, Secundum atrial septal defect, Coarctation of aorta, Perimembranous ve...	OMIM:600987
Manitoba Oculotrichoanal Syndrome	Omphalocele	OMIM:248450
Weiss-Kruszka Syndrome	Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi...	OMIM:618619
Transketolase Deficiency	Ventricular septal defect, Abnormal coronary artery course, Patent ductus arteriosus, Abnormal he...	ORPHA:488618
Acrocardiofacial Syndrome	Ventricular septal defect, Mitral stenosis, Camptodactyly of finger, Coarctation of aorta, Atrial...	ORPHA:2008
Stankiewicz-Isidor Syndrome	Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect	OMIM:617516
Craniofacial Dyssynostosis With Short Stature	Patent ductus arteriosus, Ventricular septal defect	OMIM:218350
Prolactinoma	Pallor, Hypotension	ORPHA:2965
Kapur-Toriello Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	ORPHA:2328
Klippel-Feil Syndrome 2, Autosomal Recessive	Ventricular septal defect	OMIM:214300
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Prolonged bleeding time, Bruising susceptibility, Epistaxis	OMIM:601399
Adams-Oliver Syndrome 1	Encephalocele, Bicuspid aortic valve, Ventricular septal defect, Cutis marmorata, Pulmonary arter...	OMIM:100300
Holoprosencephaly 14	Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia	OMIM:619895
Verheij Syndrome	Branchial cyst, Truncus arteriosus, Ventricular septal defect	OMIM:615583
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Tricuspid regurgitation, Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Hyp...	OMIM:617506
Zika Virus Disease	Subcutaneous hemorrhage, Edema	ORPHA:448237
Diamond-Blackfan Anemia 7	Ventricular septal defect, Polyhydramnios, Secundum atrial septal defect, Patent ductus arteriosu...	OMIM:612562
Brachydactyly, Type B1	Joint contracture of the hand, Ventricular septal defect, Camptodactyly	OMIM:113000
Ogden Syndrome	Redundant neck skin, Bicuspid aortic valve, Redundant skin, Cardiomegaly, Secundum atrial septal ...	OMIM:300855
Hermansky-Pudlak Syndrome 11	Bruising susceptibility, Menorrhagia, Epistaxis, Gingival bleeding	OMIM:619172
19P13.12 Microdeletion Syndrome	Aortic regurgitation, Ventricular septal defect, Mitral regurgitation, Atrial septal defect, Arth...	ORPHA:254346
Joubert Syndrome 14	Encephalocele, Ventricular septal defect, Meningocele, Intracranial hemorrhage, Hypertension	OMIM:614424
Pigmented Nodular Adrenocortical Disease, Primary, 2	Hypertension, Bruising susceptibility, Striae distensae	OMIM:610475
Combined Oxidative Phosphorylation Deficiency 15	Wolff-Parkinson-White syndrome, Inguinal hernia, Ventricular septal defect, Shortened PR interval...	OMIM:614947
Pearson Marrow-Pancreas Syndrome	Erythema, Pallor, Hydrops fetalis, Dehydration	OMIM:557000
Kyphoscoliotic Ehlers-Danlos Syndrome	Inguinal hernia, Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, Poor wound healing, Su...	ORPHA:536545
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Pallor	ORPHA:331206
Hermansky-Pudlak Syndrome 5	Prolonged bleeding time, Bruising susceptibility, Menorrhagia, Epistaxis	OMIM:614074
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Adrenal gland agenesis	OMIM:611812
Microcephaly-Capillary Malformation Syndrome	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Right ventricular hypertrophy	OMIM:614261
Woods Syndrome	Ventricular septal defect	OMIM:615236
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Pallor	ORPHA:300298
Braddock-Carey Syndrome 1	Enamel hypoplasia, Aortic valve prolapse, Ventricular septal defect, Camptodactyly	OMIM:619980
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Patent foramen ovale, Transposition of the great arteries	OMIM:616789
Congenital Heart Defects And Skeletal Malformations Syndrome	Ventricular septal defect, Cutis marmorata, Congenital diaphragmatic hernia, Coarctation of aorta...	OMIM:617602
Congenital Disorder Of Glycosylation, Type It	Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Dilated cardiomyopath...	OMIM:614921
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Inguinal hernia, Redundant neck skin, Ventricular septal defect, Polyhydramnios, Pancreatic lymph...	ORPHA:1655
Otopalatodigital Syndrome, Type Ii	Omphalocele, Elbow contracture, Spina bifida, Stillbirth, Atrial septal defect, Umbilical hernia,...	OMIM:304120
Phace Association	Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu...	OMIM:606519
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Umbilical hernia, Ventricular septal defect	ORPHA:1770
Distal Deletion 19P	Vaginal hernia, Ventricular septal defect, Keloids, Tricuspid valve prolapse, Umbilical hernia, P...	ORPHA:96129
Lateral Meningocele Syndrome	Inguinal hernia, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Meni...	OMIM:130720
Encephalocraniocutaneous Lipomatosis	Ventricular septal defect, Subcutaneous lipoma, Lipoma, Subvalvular aortic stenosis, Atrial septa...	OMIM:613001
Dentinogenesis Imperfecta	Generalized hypoplasia of dental enamel, Prolonged bleeding time, Odontodysplasia, Grayish enamel...	ORPHA:49042
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Pericarditis, Fasciitis, Periorbital edema, Vasculitis, Erythema, Cellulitis, Abnormal myocardium...	ORPHA:32960
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Redundant neck skin, Ventricular septal defect, Polyhydramnios, Camptodactyly, Atrial septal defe...	OMIM:617360
Basel-Vanagaite-Smirin-Yosef Syndrome	Atrial septal defect, Pulmonary arterial hypertension, Inguinal hernia, Ventricular septal defect	OMIM:616449
Sifrim-Hitz-Weiss Syndrome	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ...	OMIM:617159
Alagille Syndrome	Telangiectasia of the skin, Ventricular septal defect, Hypertension, Atrial septal defect, Spina ...	ORPHA:52
Galloway-Mowat Syndrome 7	Dilated cardiomyopathy, Ventricular septal defect, Edema	OMIM:618348
19P13.3 Microduplication Syndrome	Pulmonary arterial hypertension, Ventricular septal defect	ORPHA:447980
Pyruvate Dehydrogenase E1-Alpha Deficiency	Flexion contracture, Ventricular septal defect	ORPHA:79243
Intellectual Developmental Disorder, Autosomal Dominant 47	Increased nuchal translucency, Ventricular septal defect	OMIM:617635
Fanconi Anemia, Complementation Group D2	Patent ductus arteriosus, Bruising susceptibility, Anemic pallor, Abnormal heart morphology	OMIM:227646
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Omphalocele, Inguinal hernia, Camptodactyly of finger, Abnormal dental enamel morphology, Erythem...	ORPHA:2273
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Arthrogryposis multiplex congenita, Jaundice, Ventricular septal defect, Right ventricular hypert...	OMIM:613404
Seckel Syndrome 9	Ventricular septal defect, Polyhydramnios, Congenital diaphragmatic hernia, Pulmonary artery hypo...	OMIM:616777
Ciliary Dyskinesia, Primary, 30	Situs inversus totalis, Ventricular septal defect, Dextrocardia	OMIM:616037
X-Linked Lissencephaly With Abnormal Genitalia	Patent ductus arteriosus, Ventricular septal defect	ORPHA:452
Brittle Cornea Syndrome	Corneal scarring, Mitral valve prolapse, Hernia, Camptodactyly, Pulmonic stenosis, Bruising susce...	ORPHA:90354
Pontocerebellar Hypoplasia, Type 8	Arthrogryposis multiplex congenita, Ventricular septal defect, Patent foramen ovale	OMIM:614961
Nephrotic Syndrome, Type 11	Dilated cardiomyopathy, Ventricular septal defect	OMIM:616730
Aase-Smith Syndrome I	Flexion contracture, Ventricular septal defect	OMIM:147800
Beaulieu-Boycott-Innes Syndrome	Patent ductus arteriosus, Ventricular septal defect	OMIM:613680
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect	ORPHA:75389
Radio-Tartaglia Syndrome	Dry skin, Ventricular septal defect, Striae distensae	OMIM:619312
Meckel Syndrome, Type 4	Encephalocele, Ventricular septal defect, Meningocele, Anencephaly, Atrial septal defect	OMIM:611134
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Ventricular septal defect, Dextrotransposition of the great arteries	OMIM:619995
Insulin-Like Growth Factor I, Resistance To	Reduced subcutaneous adipose tissue, Ventricular septal defect, Lipodystrophy, Atrial septal defe...	OMIM:270450
Lambotte Syndrome	Ventricular septal defect	OMIM:245552
Ritscher-Schinzel Syndrome 2	Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, Pulmonary artery hy...	OMIM:300963
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:220500
Retinitis Pigmentosa And Erythrocytic Microcytosis	Pallor	OMIM:616959
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Atrial septal defect, Flexion contracture, Ventricular septal defect	OMIM:617452
Short Stature And Facioauriculothoracic Malformations	Ventricular septal defect	OMIM:609654
Char Syndrome	Patent ductus arteriosus, Ventricular septal defect	ORPHA:46627
Kleefstra Syndrome	Ventricular septal defect, Bicuspid aortic valve, Pulmonary artery stenosis, Coarctation of aorta...	ORPHA:261494
Mgat2-Cdg	Abnormal bleeding, Ventricular septal defect, Patent ductus arteriosus, Hydrops fetalis, Abnormal...	ORPHA:79329
Mosaic Trisomy 9	Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Spina bifida, Camptodac...	ORPHA:99776
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Dilated cardiomyopathy, Flexion contracture, Myocardial fibrosis, Transposition of...	OMIM:253800
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Inguinal hernia, Dilation of Virchow-Robin spaces, Ventricular septal defect, Contracture of the ...	OMIM:300998
Multiple Endocrine Neoplasia Type 2	Reduced subcutaneous adipose tissue, Pallor, Palpitations, Hypertensive crisis, Hypertension asso...	ORPHA:653
King-Denborough Syndrome	Ventricular septal defect	OMIM:619542
Heart And Brain Malformation Syndrome	Polyhydramnios, Ventricular septal defect, Camptodactyly of finger, Interrupted aortic arch	OMIM:616920
Thakker-Donnai Syndrome	Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries, Congenital d...	ORPHA:1780
Koolen-De Vries Syndrome	Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Aortic root aneurysm,...	OMIM:610443
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Contracture of the proximal interphalangeal joint of the 2nd finger, Elbow flexion contracture, A...	OMIM:612394
Pallister-Killian Syndrome	Omphalocele, Inguinal hernia, Edema of the dorsum of feet, Ventricular septal defect, Congenital ...	OMIM:601803
Spondyloepimetaphyseal Dysplasia, Krakow Type	Elbow contracture, Patent ductus arteriosus, Knee flexion contracture, Atrial septal defect, Brui...	OMIM:618162
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:617061
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Atrial septal defect, Limb joint contracture, Ventricular septal defect	ORPHA:505237
19Q13.11 Microdeletion Syndrome	Dry skin, Ventricular septal defect	ORPHA:217346
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Flexion contracture, Bruising susceptibility	ORPHA:98791
Vascular Ehlers-Danlos Syndrome	Redundant skin, Internal hemorrhage, Abnormal bleeding, Peripheral arteriovenous fistula, Prematu...	ORPHA:286
Distal 22Q11.2 Microdeletion Syndrome	Aortic regurgitation, Branchial fistula, Inguinal hernia, Ventricular septal defect, Camptodactyl...	ORPHA:261330
Pigmented Nodular Adrenocortical Disease, Primary, 1	Hypertension, Bruising susceptibility, Striae distensae	OMIM:610489
Diaphragmatic Hernia 4, With Cardiovascular Defects	Ventricular septal defect, Aortopulmonary collateral arteries, Polyhydramnios, Aortopulmonary win...	OMIM:620025
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Ventricular septal defect, Patent ductus arteriosus, Pulmonary artery atresia, Patent foramen ova...	OMIM:620113
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Hip contracture, Inguinal hernia, Ventricular septal defect, Elbow contracture, Elbow flexion con...	OMIM:178110
Lateral Meningocele Syndrome	Umbilical hernia, Inguinal hernia, Meningocele, Ventricular septal defect	ORPHA:2789
Neurodevelopmental Disorder With Language Delay And Seizures	Ventricular septal defect	OMIM:619908
Chromosome 15Q25 Deletion Syndrome	Inguinal hernia, Ventricular septal defect, Dextrocardia, Congenital diaphragmatic hernia, Corona...	OMIM:614294
Kapur-Toriello Syndrome	Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, Atrial septal defec...	OMIM:244300
Holoprosencephaly 7	Omphalocele, Occipital meningocele	OMIM:610828
Codas Syndrome	Ventricular septal defect, Abnormal dental enamel morphology	ORPHA:1458
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Ectodermal dysplasia, Patent ductus arteriosus, Ventricular septal defect	OMIM:106260
Cardiofacioneurodevelopmental Syndrome	Atrioventricular canal defect, Ventricular septal defect, Pulmonic stenosis, Camptodactyly	OMIM:619123
Oeis Complex	Omphalocele, Myelomeningocele, Bladder exstrophy, Cloacal exstrophy	OMIM:258040
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Gastrointestinal hemorrhage, Inguinal hernia, Poor wound healing, Congestive heart failure, Arter...	OMIM:225400
Hermansky-Pudlak Syndrome 8	Epistaxis, Excessive bleeding after a venipuncture, Menorrhagia, Gingival bleeding, Excessive ble...	OMIM:614077
Severe X-Linked Intellectual Disability, Gustavson Type	Contractures of the large joints, Ventricular septal defect	ORPHA:3078
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Ventricular septal defect, Bicuspid aortic valve, Cutis marmorata, Patent ductus arteriosus, Pulm...	OMIM:610759
Osteogenesis Imperfecta, Type I	Aortic aneurysm, Dentinogenesis imperfecta, Bruising susceptibility, Mitral valve prolapse	OMIM:166200
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	ORPHA:457193
Bohring-Opitz Syndrome	Ventricular septal defect, Polyhydramnios, Flexion contracture, Cutis laxa, Camptodactyly, Atrial...	OMIM:605039
Rere-Related Neurodevelopmental Syndrome	Ventricular septal defect, Abnormal heart morphology	ORPHA:494344
Noonan Syndrome 1	Abnormal bleeding, Ventricular septal defect, Lymphedema, Patent ductus arteriosus, Coarctation o...	OMIM:163950
Sotos Syndrome	Ventricular septal defect, Muscular ventricular septal defect, Patent ductus arteriosus, Prolonge...	OMIM:117550
Diamond-Blackfan Anemia 12	Ventricular septal defect	OMIM:615550
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Ventricular septal defect	OMIM:615630
Biliary, Renal, Neurologic, And Skeletal Syndrome	Edema, Polyhydramnios, Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricu...	OMIM:619534
Diets-Jongmans Syndrome	Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia, Polyhydramnios, Inte...	OMIM:618846
Spondylo-Ocular Syndrome	Ventricular septal defect	ORPHA:85194
Genitourinary And/Or Brain Malformation Syndrome	Omphalocele	OMIM:618820
Congenital Tracheal Stenosis	Cyanosis, Ventricular septal defect, Polyhydramnios, Fetal ascites, Ascending aorta hypoplasia, P...	ORPHA:141127
Ventriculomegaly With Cystic Kidney Disease	Polyhydramnios, Ventricular septal defect, Vascular dilatation	OMIM:219730
Paternal Uniparental Disomy Of Chromosome 6	Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Dehydration, Umbilical hernia,...	ORPHA:96191
Cholestasis, Progressive Familial Intrahepatic, 6	Bruising susceptibility, Bleeding requiring red cell transfusion	OMIM:619484
Hermansky-Pudlak Syndrome	Gastrointestinal hemorrhage, Abnormal bleeding, Abnormal dental enamel morphology, Epistaxis, Car...	ORPHA:79430
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Coronary artery fistul...	OMIM:620024
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Ventricular septal defect, Absent pulmonary artery, Patent ductus arteriosus, Coarctation of aort...	OMIM:600460
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Contracture of the p...	ORPHA:457279
Diamond-Blackfan Anemia 10	Patent ductus arteriosus, Ventricular septal defect, Congenital diaphragmatic hernia, Morgagni di...	OMIM:613309
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Patent ductus arteriosus, Ventricular septal defect	ORPHA:52055
Trichothiodystrophy	Multiple joint contractures, Ventricular septal defect, Prematurely aged appearance, Absence of s...	ORPHA:33364
Basel-Vanagaite-Smirin-Yosef Syndrome	Inguinal hernia, Ventricular septal defect, Left superior vena cava draining to coronary sinus, A...	ORPHA:464738
Mosaic Variegated Aneuploidy Syndrome 2	Aortic regurgitation, Ventricular septal defect, Coarctation of aorta, Subvalvular aortic stenosi...	OMIM:614114
Limb Body Wall Complex	Encephalocele, Thoracoabdominal wall defect, Ventral hernia, Ventricular septal defect, Diastasis...	ORPHA:2369
Wilson Disease	Joint swelling, Jaundice, Bruising susceptibility	ORPHA:905
Myopathy With Extrapyramidal Signs	Ventricular septal defect	OMIM:615673
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Ventricular septal defect, Congenital diaphragmatic hernia, Junctional ectopic ...	OMIM:309801
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Multiple joint contractures, Thoracic aortic aneurysm, Oligohydramnios, Mitral valve prolapse, As...	ORPHA:536467
Kury-Isidor Syndrome	Ventricular septal defect	OMIM:619762
Neu-Laxova Syndrome 1	Hydranencephaly, Ventricular septal defect, Spina bifida, Polyhydramnios, Patent ductus arteriosu...	OMIM:256520
Cerebellar-Facial-Dental Syndrome	Inguinal hernia, Ventricular septal defect, Foot joint contracture, Mitral valve prolapse, Ascend...	ORPHA:444072
Hajdu-Cheney Syndrome	Inguinal hernia, Ventricular septal defect, Mitral stenosis, Patent ductus arteriosus, Skin ulcer...	ORPHA:955
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Ventricular septal defect, Abnormal heart morphology	ORPHA:404440
Chime Syndrome	Ventricular septal defect, Erythema, Tetralogy of Fallot, Skin ulcer, Transposition of the great ...	ORPHA:3474
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Flexion contracture, Dry skin, Ventricular septal defect	OMIM:619306
Weill-Marchesani Syndrome 1	Ventricular septal defect, Patent ductus arteriosus, Mitral regurgitation, Pulmonic stenosis, Aor...	OMIM:277600
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Patent ductus arteriosus, Ventricular septal defect	ORPHA:77298
Fraser Syndrome	Encephalocele, Umbilical hernia, Myelomeningocele, Omphalocele	ORPHA:2052
7Q11.23 Microduplication Syndrome	Inguinal hernia, Ventricular septal defect, Cutis marmorata, Congenital diaphragmatic hernia, Pat...	ORPHA:96121
Ververi-Brady Syndrome	Transposition of the great arteries	OMIM:617982
Rabson-Mendenhall Syndrome	Reduced subcutaneous adipose tissue, Ventricular septal defect, Premature graying of hair, Cardio...	ORPHA:769
Phelan-Mcdermid Syndrome	Ventricular septal defect, Palpebral edema, Lymphedema, Patent ductus arteriosus, Cellulitis	OMIM:606232
Den Hoed-De Boer-Voisin Syndrome	Ventricular septal defect, Amelogenesis imperfecta, Enamel hypoplasia, Dry skin, Oligohydramnios	OMIM:619229
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Ventricular septal defect, Patent ductus arteriosus, Heart murmur, Intracranial hemorrhage, Inter...	ORPHA:163979
Beck-Fahrner Syndrome	Ventricular septal defect, Cardiomegaly	OMIM:618798
Hardikar Syndrome	Ventricular septal defect, Portal hypertension, Hematemesis, Patent ductus arteriosus, Partial an...	OMIM:301068
Omphalocele Syndrome, Shprintzen-Goldberg Type	Omphalocele	ORPHA:3164
Fanconi Anemia, Complementation Group B	Patent ductus arteriosus, Ventricular septal defect, Coarctation of aorta	OMIM:300514
Lissencephaly 9 With Complex Brainstem Malformation	Ventricular septal defect	OMIM:618325
Trichohepatoenteric Syndrome 1	Aortic regurgitation, Ventricular septal defect, Polyhydramnios, Large placenta, Jaundice, Pulmon...	OMIM:222470
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Atrial septal defect, Ascending tubular aorta aneurysm, Flexion contracture, Ventricular septal d...	OMIM:309520
Distal Duplication 5Q	Ventricular septal defect, Dextrocardia, Hernia	ORPHA:96097
Dysosteosclerosis	Ventricular septal defect, Abnormal dental enamel morphology	ORPHA:1782
Chédiak-Higashi Syndrome	Abnormal bleeding, Epistaxis, Edema, Pericardial effusion, Jaundice, Gingival bleeding, Pleural e...	ORPHA:167
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Ventricular septal defect, Bicuspid aortic valve, Increased nuchal translucency, Abnormal heart m...	ORPHA:453499
Cog8-Cdg	Spontaneous hematomas, Prolonged prothrombin time	ORPHA:95428
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Ventricular septal defect	OMIM:616901
Shprintzen Omphalocele Syndrome	Omphalocele	OMIM:182210
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Aortic regurgitation, Inguinal hernia, Ventricular septal defect, Polyhydramnios, Pulmonic stenos...	OMIM:607721
Ulnar-Mammary Syndrome	Arrhythmia, Hernia of the abdominal wall, Ventricular septal defect, Camptodactyly of finger	ORPHA:3138
Peroxisome Biogenesis Disorder 5A (Zellweger)	Aortic regurgitation, Tricuspid regurgitation, Ventricular septal defect, Palpebral edema, Jaundi...	OMIM:614866
X Small Rings	Ventricular septal defect, Bicuspid aortic valve, Aortic root aneurysm, Mitral stenosis, Oligohyd...	ORPHA:96201
Opitz Gbbb Syndrome	Umbilical hernia, Inguinal hernia, Ventricular septal defect	OMIM:300000
Chromosome 14Q11-Q22 Deletion Syndrome	Patent ductus arteriosus, Ventricular septal defect, Patent foramen ovale, Inguinal hernia	OMIM:613457
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Ventricular septal defect	OMIM:620073
Diamond-Blackfan Anemia 5	Ventricular septal defect	OMIM:612528
Isotretinoin Embryopathy-Like Syndrome	Conotruncal defect	OMIM:243440
Mckusick-Kaufman Syndrome	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Atrial septal defect...	ORPHA:2473
Filippi Syndrome	Ventricular septal defect	ORPHA:3255
Renal Agenesis	Hypertension, Ventricular septal defect, Oligohydramnios	ORPHA:411709
Chromosome 1Q41-Q42 Deletion Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia	OMIM:612530
Restrictive Dermopathy	Multiple joint contractures, Dextrocardia, Camptodactyly of finger, Polyhydramnios, Large placent...	ORPHA:1662
Mosaic Trisomy 16	Ventricular septal defect, Large placenta, Patent ductus arteriosus, Abnormal heart morphology, C...	ORPHA:1708
Brachytelephalangic Chondrodysplasia Punctata	Ventricular septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Increased nuchal ...	ORPHA:79345
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Patent ductus arteriosus, Ventricular septal defect	OMIM:300472
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Aortic regurgitation, Bicuspid aortic valve, Truncus arteriosus, Ventricular septal defect, Spina...	ORPHA:508498
16Q24.3 Microdeletion Syndrome	Mitral regurgitation, Dilated cardiomyopathy, Ventricular septal defect	ORPHA:261250
Brain-Lung-Thyroid Syndrome	Ventricular septal defect, Abnormal cardiac septum morphology, Atrial septal defect, Pulmonary ar...	ORPHA:209905
Chops Syndrome	Patent ductus arteriosus, Ventricular septal defect, Patent foramen ovale, Anomalous pulmonary ve...	OMIM:616368
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Aortic regurgitation, Ventricular septal defect, Ankle flexion contracture, Polyhydramnios, Paten...	ORPHA:464311
Peroxisome Biogenesis Disorder 1A (Zellweger)	Patent ductus arteriosus, Redundant neck skin, Ventricular septal defect, Prolonged neonatal jaun...	OMIM:214100
Osteogenesis Imperfecta	Abnormal endocardium morphology, Aortic regurgitation, Inguinal hernia, Abnormal dental enamel mo...	ORPHA:666
Autosomal Recessive Robinow Syndrome	Inguinal hernia, Ventricular septal defect, Abnormal pulmonary valve morphology, Camptodactyly of...	ORPHA:1507
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Ventricular septal defect, Dysplastic pulmonary valve	OMIM:619103
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Hip contracture, Ventricular septal defect, Shoulder flexion contracture, Muscular ventricular se...	OMIM:210710
Holt-Oram Syndrome	Secundum atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic l...	OMIM:142900
Short Stature-Micrognathia Syndrome	Ventricular septal defect	OMIM:617164
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Atrophic scars, Bruising susceptibility, Fragile skin	OMIM:617821
Oculodentodigital Dysplasia	Ventricular septal defect, Abnormal dental enamel morphology, Camptodactyly of finger, Umbilical ...	ORPHA:2710
Tetraamelia Syndrome 2	Ventricular septal defect, Hypoplastic pulmonary veins	OMIM:618021
Zellweger Syndrome	Jaundice, Ventricular septal defect	ORPHA:912
Williams Syndrome	Bicuspid aortic valve, Redundant skin, Myocardial infarction, Cardiomegaly, Abnormal cerebral vas...	ORPHA:904
Mycophenolate Mofetil Embryopathy	Ventricular septal defect, Hydrops fetalis, Congenital diaphragmatic hernia, Coarctation of aorta	ORPHA:268249
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Atrial septal defect, Ventricular septal defect	OMIM:610978
Acrofacial Dysostosis 1, Nager Type	Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Urticaria, ...	OMIM:154400
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Patent ductus arteriosus, Ventricular septal defect, Cerebral hemorrhage, Hiatus hernia	OMIM:616682
Coffin-Siris Syndrome 4	Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Pulmonic stenosis, Atrial se...	OMIM:614609
Occipital Horn Syndrome	Orthostatic hypotension, Redundant skin, Hiatus hernia, Bruising susceptibility, Carotid artery t...	OMIM:304150
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Umbilical hernia, Perimembranous ventricular septal defect, Ventricular septal defect	OMIM:301040
8Q24.3 Microdeletion Syndrome	Gastrointestinal hemorrhage, Branchial cyst, Inguinal hernia, Ventricular septal defect, Complete...	ORPHA:508488
Liver Disease, Severe Congenital	Inguinal hernia, Pulmonary edema, Ventricular septal defect, Left atrial enlargement, Cardiomegal...	OMIM:619991
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Aortic regurgitation, Bicuspid aortic valve, Muscular ventricular septal defect, Patent ductus ar...	OMIM:612474
Alzahrani-Kuwahara Syndrome	Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Persistent left su...	OMIM:619268
Cornelia De Lange Syndrome 1	Inguinal hernia, Ventricular septal defect, Cutis marmorata, Congenital diaphragmatic hernia, Hia...	OMIM:122470
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Tetralogy of Fallot, Pat...	OMIM:618748
Mandibulofacial Dysostosis, Guion-Almeida Type	Atrial septal defect, Ventricular septal defect	OMIM:610536
Catel-Manzke Syndrome	Inguinal hernia, Overriding aorta, Ventricular septal defect, Dextrocardia, Coarctation of aorta,...	OMIM:616145
Thrombocytopenia-Absent Radius Syndrome	Edema of the dorsum of feet, Ventricular septal defect, Spina bifida, Edema of the dorsum of hand...	OMIM:274000
Tbck-Related Intellectual Disability Syndrome	Ventricular septal defect, Diastasis recti, Pulmonic stenosis, Oligohydramnios	ORPHA:488632
Coffin-Siris Syndrome	Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Hernia, Atrial se...	ORPHA:1465
Leigh Syndrome	Congestive heart failure, Hypertrophic cardiomyopathy, Multiple joint contractures, Ventricular s...	ORPHA:506
Marshall-Smith Syndrome	Bruising susceptibility	ORPHA:561
Fanconi Anemia, Complementation Group N	Ventricular septal defect	OMIM:610832
Thauvin-Robinet-Faivre Syndrome	Inguinal hernia, Ventricular septal defect, Pedal edema, Mitral valve prolapse, Varicose veins	OMIM:617107
Trichothiodystrophy 4, Nonphotosensitive	Ventricular septal defect	OMIM:234050
Occipital Horn Syndrome	Inguinal hernia, Femoral hernia, Scarring, Hiatus hernia, Venous insufficiency, Jaundice, Atypica...	ORPHA:198
Chediak-Higashi Syndrome	Spontaneous, recurrent epistaxis, Jaundice, Bruising susceptibility	OMIM:214500
Smith-Lemli-Opitz Syndrome	Ventricular septal defect, Abnormal dental enamel morphology, Congenital diaphragmatic hernia, Po...	ORPHA:818
2Q31.1 Microdeletion Syndrome	Atrial septal defect, Inguinal hernia, Ventricular septal defect, Camptodactyly of finger	ORPHA:251014
16P13.11 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect, Camptodactyly of finger	ORPHA:261236
Orotic Aciduria	Atrial septal defect, Ventricular septal defect	OMIM:258900
Dyrk1A-Related Intellectual Disability Syndrome	Aortic regurgitation, Multiple joint contractures, Ventricular septal defect, Patent ductus arter...	ORPHA:464306
Robinow Syndrome	Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Pulmonic stenosis, At...	ORPHA:97360
Orofaciodigital Syndrome V	Tetralogy of Fallot, Ventricular septal defect	OMIM:174300
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Omphalocele, Hydrops fetalis	ORPHA:93271
Yunis-Varon Syndrome	Redundant neck skin, Ventricular septal defect, Polyhydramnios, Cardiomegaly, Increased nuchal tr...	ORPHA:3472
Williams-Beuren Syndrome	Inguinal hernia, Bicuspid aortic valve, Ventricular septal defect, Portal hypertension, Retinal a...	OMIM:194050
Pallister-Hall Syndrome	Neonatal death, Patent ductus arteriosus, Ventricular septal defect, Preductal coarctation of the...	OMIM:146510
Myhre Syndrome	Ventricular septal defect, Pericardial effusion, Patent ductus arteriosus, Coarctation of aorta, ...	OMIM:139210
Tetraamelia Syndrome 1	Adrenal gland agenesis	OMIM:273395
Goodpasture Syndrome	Cyanosis, Pallor, Pulmonary hemorrhage	OMIM:233450
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Hematochezia, Ventricular septal defect, Peripheral pulmonary artery stenosis	OMIM:619575
Carpenter Syndrome 2	Tricuspid regurgitation, Dextrocardia, Situs inversus totalis, Patent ductus arteriosus, Cutis la...	OMIM:614976
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Premature graying of hair, Bruising susceptibility	OMIM:112250
3Q29 Microduplication Syndrome	Camptodactyly of toe, Ventricular septal defect	ORPHA:251038
Distal 22Q11.2 Microduplication Syndrome	Branchial fistula, Tricuspid regurgitation, Ventricular septal defect, Camptodactyly of finger, P...	ORPHA:261337
Osteogenesis Imperfecta, Type Xvi	Prolonged bleeding time, Bruising susceptibility	OMIM:616229
Acute Liver Failure	Shock, Gastrointestinal hemorrhage, Abnormal bleeding, Jaundice, Intracranial hemorrhage, Prolong...	ORPHA:90062
Trichohepatoneurodevelopmental Syndrome	Patent ductus arteriosus, Distal arthrogryposis, Ventricular septal defect, Polyhydramnios	OMIM:618268
Costello Syndrome	Redundant neck skin, Ventricular septal defect, Polyhydramnios, Achilles tendon contracture, Mitr...	OMIM:218040
Craniofacioskeletal Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Interrupted aortic arch	OMIM:300712
Feingold Syndrome 1	Ventricular septal defect, Tricuspid stenosis, Polyhydramnios, Patent ductus arteriosus, Interrup...	OMIM:164280
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Inguinal hernia, Ventricular septal defect, Abnormal right ventricle morphology, Mitral valve pro...	ORPHA:500095
Jacobsen Syndrome	Inguinal hernia, Ventricular septal defect, Spina bifida, Coarctation of aorta, Hypoplastic left ...	ORPHA:2308
Teebi-Shaltout Syndrome	Aortic valve stenosis, Ventricular septal defect, Camptodactyly	OMIM:272950
Duane-Radial Ray Syndrome	Atrial septal defect, Spina bifida occulta, Ventricular septal defect, Vascular dilatation	OMIM:607323
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du...	OMIM:300967
Meier-Gorlin Syndrome 7	Ventricular septal defect, Heart block, Complete atrioventricular canal defect, Second degree atr...	OMIM:617063
Autoimmune Lymphoproliferative Syndrome	Abnormal bleeding, Vasculitis, Hydrops fetalis, Urticaria, Panniculitis, Bruising susceptibility	ORPHA:3261
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Abnormal cardiac ventricular function, Tricuspid regurgitation, Ventricular septal defect, Patent...	ORPHA:466791
Hajdu-Cheney Syndrome	Umbilical hernia, Patent ductus arteriosus, Ventricular septal defect, Inguinal hernia	OMIM:102500
Chromosome 13Q14 Deletion Syndrome	Umbilical hernia, Ventricular septal defect, Patent foramen ovale, Inguinal hernia	OMIM:613884
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Ventricular septal defect, Polyhydramnios	OMIM:615503
Goldberg-Shprintzen Syndrome	Aortic regurgitation, Ventricular septal defect	OMIM:609460
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Ventricular septal defect	ORPHA:251028
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Ventricular hypertrophy, Aortic regurgitation, Tricuspid regurgitation, Ventricular septal defect...	OMIM:143095
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Atrial septal defect, Tricuspid regurgitation, Ventricular septal defect, Hydrops fetalis	OMIM:263520
Congenital Disorder Of Glycosylation, Type Iia	Ventricular septal defect	OMIM:212066
Ellis Van Creveld Syndrome	Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,...	ORPHA:289
Koolen-De Vries Syndrome Due To A Point Mutation	Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Intraventricular hemorrhage, Abno...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Intraventricular hemorrhage, Abno...	ORPHA:363958
Kaufman Oculocerebrofacial Syndrome	Atrial septal defect, Ventricular septal defect, Coarctation of aorta	OMIM:244450
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Pallor	OMIM:253280
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Patent ductus a...	ORPHA:353281
Rubinstein-Taybi Syndrome 1	Ventricular septal defect, Spina bifida, Polyhydramnios, Patent ductus arteriosus, Flexion contra...	OMIM:180849
Cardiospondylocarpofacial Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Muscular ventricular septal defect, D...	OMIM:157800
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Inguinal hernia, Ventricular septal defect, Polyhydramnios, Pulmonary artery stenosis, Dilatation...	ORPHA:459070
Hand-Foot-Genital Syndrome	Ventricular septal defect	ORPHA:2438
Alagille Syndrome 1	Ventricular septal defect, Coarctation of aorta, Stroke, Renal artery stenosis, Prolonged neonata...	OMIM:118450
Intellectual Developmental Disorder, Autosomal Dominant 53	Ventricular septal defect	OMIM:617798
Chromosome 16P13.3 Duplication Syndrome	Inguinal hernia, Ventricular septal defect, Camptodactyly, Atrial septal defect, Tetralogy of Fallot	OMIM:613458
Cohen Syndrome	Ventricular septal defect, Mitral valve prolapse	ORPHA:193
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Abnormal bleeding, Epistaxis, Prolonged bleeding following procedure, Hypertension, Pulmonary ven...	ORPHA:79259
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Ventricular septal defect, Congestive heart failure, Patent ductus arteriosus, Abnormal heart mor...	ORPHA:444077
Van Esch-O'Driscoll Syndrome	Ventricular septal defect, Pulmonary artery stenosis, Pulmonary valve atresia, Atrial septal defe...	OMIM:301030
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Ventricular septal defect, Bicuspid aortic valve, Flexion contracture, Mitral regurgitation, Atri...	OMIM:271640
Cerebellofaciodental Syndrome	Ventricular septal defect, Mitral valve prolapse	OMIM:616202
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Ventricular septal defect, Bicuspid aortic valve, Increased nuchal translucency, Abnormal heart m...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Ventricular septal defect, Bicuspid aortic valve, Increased nuchal translucency, Abnormal heart m...	ORPHA:352665
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Aortic regurgitation, Inguinal hernia, Ventricular septal defect, Abnormal pulmonary valve morpho...	ORPHA:268261
Femoral-Facial Syndrome	Truncus arteriosus, Ventricular septal defect, Inguinal hernia, Pulmonic stenosis	OMIM:134780
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Patent ductus arteriosus, Atr...	ORPHA:3047
Cerebrocostomandibular Syndrome	Ventricular septal defect, Spina bifida, Myelomeningocele, Meningocele, Hydranencephaly	ORPHA:1393
Simpson-Golabi-Behmel Syndrome, Type 1	Inguinal hernia, Ventricular septal defect, Diastasis recti, Congenital diaphragmatic hernia, Pol...	OMIM:312870
Arboleda-Tham Syndrome	Prominent umbilicus, Ventricular septal defect, Secundum atrial septal defect, Patent ductus arte...	OMIM:616268
Congenital Disorder Of Glycosylation, Type Iiw	Inguinal hernia, Ventricular septal defect, Prolonged prothrombin time, Bleeding with minor or no...	OMIM:619525
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Ventricular septal defect	OMIM:250410
Omodysplasia 1	Atrial septal defect, Umbilical hernia, Pulmonary artery stenosis, Ventricular septal defect	OMIM:258315
Digeorge Syndrome	Inguinal hernia, Ventricular septal defect, Femoral hernia, Patent ductus arteriosus, Interrupted...	OMIM:188400
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Polyhydramnios,...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Polyhydramnios,...	ORPHA:353277
Coffin-Siris Syndrome 1	Inguinal hernia, Ventricular septal defect, Cutis marmorata, Congenital diaphragmatic hernia, Pat...	OMIM:135900
Apert Syndrome	Overriding aorta, Ventricular septal defect	OMIM:101200
Zttk Syndrome	Aortic regurgitation, Ventricular septal defect, Patent ductus arteriosus, Flexion contracture, A...	OMIM:617140
Marden-Walker Syndrome	Ventricular septal defect, Dextrocardia, Camptodactyly of finger, Situs inversus totalis, Abnorma...	ORPHA:2461
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Aortic regurgitation, Ventricular septal defect, Bicuspid aortic valve, Palpebral edema, Congesti...	OMIM:619475
Larsen Syndrome	Atrial septal defect, Spina bifida occulta, Ventricular septal defect, Aortic aneurysm	OMIM:150250
Vater/Vacterl Association	Occipital encephalocele, Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Trans...	OMIM:192350
Jacobsen Syndrome	Atrial septal defect, Flexion contracture, Ventricular septal defect	OMIM:147791
Smith-Lemli-Opitz Syndrome	Ventricular septal defect, Patent ductus arteriosus, Severe photosensitivity, Coarctation of aort...	OMIM:270400
Cerebrocostomandibular Syndrome	Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Elbow flexion contracture, A...	OMIM:117650
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Uterine prolapse, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Ano...	ORPHA:438213
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Patent ductus arteriosus, Ventricular septal defect, Patent foramen ovale	OMIM:616975
Chromosome 1P36 Deletion Syndrome, Distal	Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Camptodactyly of ...	OMIM:607872
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Ventricular septal defect, Congenital diaphragmatic hernia, Partial anomalous pulmonary venous re...	OMIM:301044
Hereditary Sensory And Autonomic Neuropathy Type 4	Fasciitis, Bruising susceptibility, Corneal scarring, Atypical scarring of skin, Syncope, Dry ski...	ORPHA:642
Keutel Syndrome	Ventricular septal defect, Hypertension, Pulmonary artery hypoplasia, Pulmonic stenosis, Peripher...	OMIM:245150
Carney Complex	Dorsocervical fat pad, Cardiac myxoma, Congestive heart failure, Hypertension, Dilatation of the ...	ORPHA:1359
Microphthalmia, Syndromic 3	Patent ductus arteriosus, Ventricular septal defect	OMIM:206900
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse, Mitral regurgitation...	ORPHA:363700
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Ventricular septal defect, Prolonged neonatal jaundice	OMIM:619418
Early Infantile Epileptic Encephalopathy	Umbilical hernia, Ventricular septal defect	ORPHA:1934
Renpenning Syndrome 1	Ventricular septal defect, Situs inversus totalis, Tetralogy of Fallot, Camptodactyly, Atrial sep...	OMIM:309500
Mosaic Trisomy 20	Abnormal mitral valve morphology, Dysplastic tricuspid valve, Ventricular septal defect	ORPHA:1724
Ulnar-Mammary Syndrome	Elbow flexion contracture, Arrhythmia, Ventricular septal defect, Inguinal hernia	OMIM:181450
Sotos Syndrome	Hip contracture, Inguinal hernia, Ventricular septal defect, Ankle flexion contracture, Patent du...	ORPHA:821
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Ventricular septal defect, Abnormal dental enamel morphology	ORPHA:1071
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Ventricular septal defect, Ventricular septal hypertrophy, Oligohydramnios	OMIM:608670
Pallister-Hall Syndrome	Inguinal hernia, Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Dista...	ORPHA:672
Mowat-Wilson Syndrome	Ventricular septal defect, Pulmonary artery sling, Patent ductus arteriosus, Pulmonary artery ste...	OMIM:235730
Penile Agenesis	Atrial septal defect, Ventricular septal defect, Cloacal abnormality, Oligohydramnios	ORPHA:49
Peters-Plus Syndrome	Ventricular septal defect, Diastasis recti, Polyhydramnios, Patent ductus arteriosus, Pulmonic st...	OMIM:261540
Cornelia De Lange Syndrome	Cutis marmorata, Ventricular septal defect, Congenital diaphragmatic hernia, Increased nuchal tra...	ORPHA:199
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Right aortic arch, Lower-limb joint contracture, Ventricular septal defect	ORPHA:513456
Roberts-Sc Phocomelia Syndrome	Ventricular septal defect, Ankle flexion contracture, Polyhydramnios, Patent ductus arteriosus, F...	OMIM:268300
Yunis-Varon Syndrome	Redundant neck skin, Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Heart murmur, Ca...	OMIM:216340
Orofaciodigital Syndrome Xiv	Atrial septal defect, Occipital encephalocele, Patent ductus arteriosus, Ventricular septal defect	OMIM:615948
Townes-Brocks Syndrome 1	Atrial septal defect, Umbilical hernia, Tetralogy of Fallot, Ventricular septal defect	OMIM:107480
Craniotubular Dysplasia, Ikegawa Type	Ventricular septal defect	OMIM:619727
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Umbilical hernia, Ventricular septal defect	OMIM:620330
Orofaciodigital Syndrome Type 14	Patent ductus arteriosus, Ventricular septal defect	ORPHA:434179
Proboscis Lateralis	Patent ductus arteriosus, Ventricular septal defect	ORPHA:141099
Johanson-Blizzard Syndrome	Ventricular septal defect, Portal hypertension, Situs inversus totalis, Dilated cardiomyopathy, A...	OMIM:243800
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bicuspid aortic valve, Ventricular septal defect, Abnormal pulmonary valve morphology, Pulmonary ...	ORPHA:261552
Osteoporosis-Pseudoglioma Syndrome	Ventricular septal defect	OMIM:259770
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:619522
Genitopatellar Syndrome	Hip contracture, Ventricular septal defect, Polyhydramnios, Knee flexion contracture, Atrial sept...	OMIM:606170
Kabuki Syndrome 1	Atrial septal defect, Ventricular septal defect, Coarctation of aorta	OMIM:147920
Wolf-Hirschhorn Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:194190
Craniofacial Microsomia 1	Occipital encephalocele, Ventricular septal defect, Patent ductus arteriosus, Coarctation of aort...	OMIM:164210
Pituitary Adenoma 1, Multiple Types	Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul...	OMIM:102200
Pituitary Gigantism	Elevated circulating growth hormone concentration, Increased circulating insulin-like growth fact...	ORPHA:99725
Acromegaly	Palpebral edema, Joint swelling, Hypertension, Mitral regurgitation, Hypertrophic cardiomyopathy	ORPHA:963

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 Aip

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 Aip.

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

Order Mouse and ES Cells

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MGI Allele	Allele Type	Produced
Aip^{tm2a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Aip^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	Mice, ES Cells
Aip^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Aip^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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