| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
| Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
| Diamond-Blackfan Anemia-Like |
|
Pure red cell aplasia, Steroid-responsive anemia |
OMIM:617911 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| Hemoglobin D Disease |
|
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... |
ORPHA:90039 |
| Diamond-Blackfan Anemia 19 |
|
Erythroid hypoplasia, Anemia, Steroid-responsive anemia |
OMIM:618312 |
| Delta-Beta-Thalassemia |
|
Anemia, Abnormal hemoglobin, Microcytic anemia |
ORPHA:231237 |
| Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:231242 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Hemoglobin H Disease |
|
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:613978 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... |
OMIM:603902 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio |
OMIM:300448 |
| Alpha-Thalassemia |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:604131 |
| Beta-Thalassemia |
|
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
| Anemia, Sideroblastic, 4 |
|
Abnormal erythrocyte morphology, Sideroblastic anemia |
OMIM:182170 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
| Heinz Body Anemias |
|
Nonspherocytic hemolytic anemia, Heinz body anemia, Heinz bodies |
OMIM:140700 |
| Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... |
ORPHA:2133 |
| Congenital Pulmonary Lymphangiectasia |
|
Pulmonary arterial hypertension, Splenomegaly, Hydrops fetalis, Chylopericardium, Congestive hear... |
ORPHA:2414 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
| Hydrops Fetalis |
|
Polyhydramnios, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Abnormality of the l... |
ORPHA:1041 |
| Lymphangiectasia, Pulmonary, Congenital |
|
Polyhydramnios, Pedal edema, Pulmonary lymphangiectasia, Nonimmune hydrops fetalis, Pleural effus... |
OMIM:265300 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Sudden cardiac death, Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Cardiac a... |
OMIM:115197 |
| Diamond-Blackfan Anemia 3 |
|
Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
| Fetal Parvovirus Syndrome |
|
Hypertrophic cardiomyopathy, Ascites, Hydrops fetalis, Increased nuchal translucency |
ORPHA:295 |
| Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Anemia, Reticulocytosis |
OMIM:613977 |
| Woronets Trait |
|
Red blood cell keratocytosis |
OMIM:194320 |
| Familial Atrial Myxoma |
|
Pedal edema, Bacterial endocarditis, Exertional dyspnea, Heart murmur, Pulmonic valve myxoma, Con... |
ORPHA:615 |
| Cardiomyopathy, Familial Restrictive, 6 |
|
Restrictive cardiomyopathy, Pulmonary insufficiency, Hydrops fetalis, Hepatomegaly, Ascites, Pulm... |
OMIM:619433 |
| Cardiomyopathy, Familial Hypertrophic, 15 |
|
Pulmonary arterial hypertension, Myofiber disarray, Apical hypertrophic cardiomyopathy, Left vent... |
OMIM:613255 |
| Klippel-Trénaunay Syndrome |
|
Respiratory insufficiency, Pulmonary embolism, Patent ductus arteriosus, Hydrops fetalis, Congest... |
ORPHA:90308 |
| Nephrosialidosis |
|
Pericardial effusion, Ascites |
OMIM:256150 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anisocytosis, Anemia of inadequate production, Oval macrocytosis, Poikilocytosis |
OMIM:603529 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin |
ORPHA:3319 |
| Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
| Adenosine Triphosphatase Deficiency, Anemia Due To |
|
Nonspherocytic hemolytic anemia |
OMIM:102800 |
| Hemolytic Anemia With Thermal Sensitivity Of Red Cells |
|
Congenital hemolytic anemia |
OMIM:235370 |
| Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain |
|
Compensated hemolytic anemia |
OMIM:142309 |
| Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane |
|
Nonspherocytic hemolytic anemia |
OMIM:206300 |
| Adenylate Kinase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:612631 |
| 6-Phosphogluconolactonase Deficiency |
|
Hemolytic anemia |
OMIM:172150 |
| Cirrhotic Cardiomyopathy |
|
Elevated pulmonary artery pressure, Left ventricular diastolic dysfunction, Third heart sound, Re... |
ORPHA:57777 |
| Ascites, Chylous |
|
Chylous ascites |
OMIM:208300 |
| Ventricular Septal Defect 1 |
|
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Tetralogy of Fall... |
OMIM:614429 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... |
ORPHA:251380 |
| Infantile Sialic Acid Storage Disease |
|
Hydrops fetalis, Congestive heart failure, Hepatomegaly, Cardiomegaly, Ascites, Splenomegaly |
OMIM:269920 |
| Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
| Lymphatic Malformation 7 |
|
Pulmonary edema, Lymphedema, Pericardial effusion, Respiratory distress, Atrial septal defect, No... |
OMIM:617300 |
| Alpha-Thalassemia |
|
Anemia, Hemolytic anemia, Hypersplenism, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:846 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Oligohydramnios, Pleural effusion, Hypertrophic cardiomyopathy, Cardiomegal... |
OMIM:614702 |
| Congenital Toxoplasmosis |
|
Cardiomegaly, Ascites, Lymphadenopathy, Hepatomegaly |
ORPHA:858 |
| Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Respiratory insufficiency, Polyhydramnios, Oligohydramnios, Ascites, Splenomegaly |
ORPHA:1046 |
| Glycogen Storage Disease Iv |
|
Polyhydramnios, Hydrops fetalis, Hepatosplenomegaly, Edema, Ascites, Portal hypertension, Cardiom... |
OMIM:232500 |
| Hypocomplementemic Urticarial Vasculitis |
|
Angioedema, Splenomegaly, Small vessel vasculitis, Pericardial effusion, Emphysema, Pleural effus... |
ORPHA:36412 |
| Indomethacin Embryofetopathy |
|
Respiratory insufficiency, Hydrops fetalis, Ventricular septal defect, Atrial septal defect, Olig... |
ORPHA:1909 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Ascites, Gastrointestinal hemorrhage, Hepatomegaly |
ORPHA:2198 |
| Left Ventricular Noncompaction 1 |
|
Sudden cardiac death, Patent ductus arteriosus, Ventricular septal defect, Ventricular arrhythmia... |
OMIM:604169 |
| Alpha-Heavy Chain Disease |
|
Splenomegaly, Ascites, Lymphadenopathy, Hepatomegaly |
ORPHA:100025 |
| Fixed Subaortic Stenosis |
|
Atrioventricular canal defect, Systolic heart murmur, Left ventricular outflow tract obstruction,... |
ORPHA:3092 |
| Secondary Intestinal Lymphangiectasia |
|
Lymphedema, Intestinal lymphedema, Pleural effusion, Edema, Constrictive pericarditis, Intestinal... |
ORPHA:90363 |
| Congenital Gerbode Defect |
|
Pedal edema, Systolic heart murmur, Crackles, Palpitations, Peripheral edema, Elevated right atri... |
ORPHA:99095 |
| Spinal Muscular Atrophy, Type I |
|
Respiratory insufficiency, Respiratory failure, Ventricular septal defect, Atrial septal defect |
OMIM:253300 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Petechiae, Ecchymosis, Epistaxis, Hepatomegaly, Portal hypertension, Ascites, Splenomegaly |
OMIM:619463 |
| Hemochromatosis, Type 1 |
|
Telangiectasia, Congestive heart failure, Pleural effusion, Hepatomegaly, Arrhythmia, Cardiomegal... |
OMIM:235200 |
| Lymphatic Malformation 8 |
|
Polyhydramnios, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, Stillbirth, Ge... |
OMIM:618773 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory insufficiency, Polyhydramnios, Dilated cardiomyopathy, Congestive heart failure, Resp... |
ORPHA:367 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Abnormal cardiac septum morphology, Pericardial effusion, Hepatosplenomegaly, Edema, Hepatomegaly... |
OMIM:608776 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia |
ORPHA:231401 |
| Sialidosis Type 2 |
|
Pedal edema, Hydrops fetalis, Dyspnea, Hepatomegaly, Ascites, Splenomegaly |
ORPHA:87876 |
| Neuraminidase Deficiency |
|
Cardiomyopathy, Hydrops fetalis, Hepatomegaly, Cardiomegaly, Ascites, Splenomegaly, Facial edema |
OMIM:256550 |
| Atrial Septal Defect 2 |
|
Patent ductus arteriosus, Atrioventricular canal defect, Ventricular septal defect, Atrial septal... |
OMIM:607941 |
| Pseudomyxoma Peritonei |
|
Respiratory insufficiency, Ascites, Lymphadenopathy |
ORPHA:26790 |
| Heparin-Induced Thrombocytopenia |
|
Pulmonary embolism, Abnormal onset of bleeding, Myocardial infarction, Cerebral ischemia |
ORPHA:3325 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hypotension, Pericardial effusion, Pleural effusion, Hypertrophic cardiomyopathy, Shortened PR in... |
OMIM:261740 |
| Antithrombin Iii Deficiency |
|
Pulmonary embolism, Arterial occlusion |
OMIM:613118 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect |
OMIM:601127 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Atrioventricular canal defect, Ventricular septal defect, Hypoplastic left heart, Aortic valve st... |
OMIM:615779 |
| Hepatic Veno-Occlusive Disease |
|
Respiratory failure, Ascites, Hepatomegaly |
ORPHA:890 |
| Nemaline Myopathy 9 |
|
Respiratory insufficiency, Polyhydramnios, Ventricular septal defect |
OMIM:615731 |
| Mulibrey Nanism |
|
Hydrops fetalis, Pericardial constriction, Congestive heart failure, Myocardial fibrosis, Hepatom... |
OMIM:253250 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Plantar telangiectasia, Hydrops fetalis, Predominantly lower limb lymphedema, Abnormality of the ... |
ORPHA:69735 |
| Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Ascites, Dyspnea |
OMIM:174050 |
| Tropical Endomyocardial Fibrosis |
|
Pedal edema, Systolic heart murmur, Restrictive cardiomyopathy, Left ventricular diastolic dysfun... |
ORPHA:75565 |
| Pseudo-Torch Syndrome 2 |
|
Respiratory insufficiency, Patent ductus arteriosus, Petechiae, Cerebral hemorrhage, Secundum atr... |
OMIM:617397 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomy... |
OMIM:617912 |
| Cranioacrofacial Syndrome |
|
Pulmonic stenosis, Ventricular septal defect |
OMIM:122850 |
| Coronary Arterial Fistula |
|
Pedal edema, Systolic heart murmur, Angina pectoris, Abnormal left ventricular function, Palpitat... |
ORPHA:2041 |
| Thrombophilia Due To Thrombomodulin Defect |
|
Pulmonary embolism |
OMIM:614486 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Patent ductus arteriosus, Perimembranous ventricular septal defect, Oligohydramnios, Edema, Hepat... |
OMIM:608104 |
| Pulmonary Capillary Hemangiomatosis |
|
Elevated pulmonary artery pressure, Pedal edema, Exertional dyspnea, Hemothorax, Pulmonary edema,... |
ORPHA:199241 |
| Left Ventricular Noncompaction 10 |
|
Pulmonary arterial hypertension, Syncope, Congestive heart failure, Dilated cardiomyopathy, Incre... |
OMIM:615396 |
| Megabladder, Congenital |
|
Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect,... |
OMIM:618719 |
| Gaucher Disease Type 1 |
|
Pulmonary arterial hypertension, Pedal edema, Pericardial effusion, Hypersplenism, Bruising susce... |
ORPHA:77259 |
| Thrombophilia, X-Linked, Due To Factor Viii Defect |
|
Pulmonary embolism |
OMIM:301071 |
| Eng-Strom Syndrome |
|
Ventricular septal defect, Abnormal cardiac septum morphology |
ORPHA:1937 |
| Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive |
|
Macrocytic anemia, Macrocytic dyserythropoietic anemia |
OMIM:619789 |
| Splenoportal Vascular Anomalies |
|
Ascites, Splenomegaly |
OMIM:271500 |
| Eisenmenger Syndrome |
|
Atrioventricular canal defect, Pedal edema, Aortopulmonary window, Ventricular arrhythmia, Suprav... |
ORPHA:97214 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Subvalvular aortic stenosis, Left ventricular outflow tract obstruction, Myxomatous mitral valve ... |
OMIM:614980 |
| Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Pulmonary arterial hypertension, Pedal edema, Heart murmur, Elevated jugular venous pressure, Syn... |
ORPHA:422 |
| Dengue Fever |
|
Hypotension, Petechiae, Cerebral hemorrhage, Bruising susceptibility, Epistaxis, Cardiorespirator... |
ORPHA:99828 |
| Familial Isolated Restrictive Cardiomyopathy |
|
Interstitial cardiac fibrosis, Pulmonary edema, Supraventricular arrhythmia, Syncope, Hypertrophi... |
ORPHA:75249 |
| Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Polyhydramnios, Hydrops fetalis, Fetal ascites, Hepatomegaly, Splenomegaly |
OMIM:619462 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Respiratory insufficiency, Patent ductus arteriosus, Ventricular septal defect, Hypertension, Oli... |
OMIM:617021 |
| Diffuse Neonatal Hemangiomatosis |
|
Patent ductus arteriosus, Polyhydramnios, Hydrops fetalis, Hepatomegaly, Ascites |
ORPHA:2123 |
| Lymphatic Malformation 6 |
|
Polyhydramnios, Lymphedema, Nonimmune hydrops fetalis, Atrial septal defect, Pleural effusion, Ed... |
OMIM:616843 |
| Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Elliptocytosis, Anemia of inadequate production, Hemolytic anemia |
OMIM:166910 |
| Mesoaxial Hexadactyly And Cardiac Malformation |
|
Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Ventricular septal defect |
OMIM:249670 |
| Thrombophilia Due To Protein C Deficiency, Autosomal Dominant |
|
Pulmonary embolism |
OMIM:176860 |
| Ovarian Hyperstimulation Syndrome |
|
Ascites |
OMIM:608115 |
| Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
| Spherocytosis, Type 3 |
|
Hemolytic anemia, Spherocytosis |
OMIM:270970 |
| Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Pulmonary embolism, Hypertension, Congestive heart failure, Hypertrophic cardiomyopathy, Arrhythm... |
ORPHA:1345 |
| Cardiomyopathy, Dilated, 2D |
|
Pulmonary arterial hypertension, Patent foramen ovale, Interstitial cardiac fibrosis, Reduced lef... |
OMIM:619371 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Left ventricular outflow tract obstruction, Biventricular hypertrophy, Hepatomegaly, Ventricular ... |
ORPHA:860 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pneumothorax, Bronchiectasis, Pericardial effusion, Respiratory distress, Chronic pulmonary obstr... |
ORPHA:411703 |
| Chylous Ascites |
|
Ascites, Lymphedema |
ORPHA:1160 |
| Long Qt Syndrome 13 |
|
Torsade de pointes, Pulmonary embolism, Permanent atrial fibrillation, Reduced left ventricular e... |
OMIM:613485 |
| Lymphoproliferative Syndrome 2 |
|
Hepatosplenomegaly, Recurrent pneumonia, Lymphadenopathy, Hepatomegaly, Ascites, Splenomegaly |
OMIM:615122 |
| Complete Atrioventricular Septal Defect |
|
Systolic heart murmur, Crackles, Displacement of the papillary muscles, Hepatomegaly, Abnormal P ... |
ORPHA:1329 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Pulmonary embolism, Edema, Hepatomegaly, Budd-Chiari syndrome, Ascites, Intestinal lymphangiectas... |
OMIM:226300 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Respiratory insufficiency, Patent ductus arteriosus, Ventricular septal defect, Hypoplastic left ... |
OMIM:616276 |
| Pyropoikilocytosis, Hereditary |
|
Elliptocytosis, Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis |
OMIM:266140 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Retinal hemorrhage, Vitreous hemorrhage, Cerebral hemorrhage, Central sleep apnea, Intracranial h... |
ORPHA:464321 |
| Primary Effusion Lymphoma |
|
Pleural effusion, Dyspnea, Pericardial effusion |
ORPHA:48686 |
| Combined Oxidative Phosphorylation Deficiency 5 |
|
Hypertrophic cardiomyopathy, Ascites, Edema |
OMIM:611719 |
| Thrombophilia Due To Thrombin Defect |
|
Pulmonary embolism |
OMIM:188050 |
| Isolated Right Ventricular Hypoplasia |
|
Bidirectional shunt, Systolic heart murmur, Right bundle branch block, Abnormal atrioventricular ... |
ORPHA:439 |
| Heart Defects-Limb Shortening Syndrome |
|
Abnormal tricuspid valve morphology, Atrial septal defect, Ventricular septal defect, Abnormal mi... |
ORPHA:1354 |
| Ovalocytosis, Southeast Asian |
|
Elliptocytosis, Hemolytic anemia |
OMIM:166900 |
| Poems Syndrome |
|
Pulmonary arterial hypertension, Pericardial effusion, Pleural effusion, Edema, Lymphadenopathy, ... |
ORPHA:2905 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Persistence of hemoglobin F, Chronic hemolytic anemia, Thrombo... |
ORPHA:232 |
| Peripartum Cardiomyopathy |
|
Pedal edema, Sinus tachycardia, Cardiogenic shock, Crackles, Palpitations, Peripheral edema, Exer... |
ORPHA:563 |
| Familial Dilated Cardiomyopathy |
|
Elevated pulmonary artery pressure, Reduced left ventricular ejection fraction, Ventricular arrhy... |
ORPHA:217607 |
| Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:178370 |
| Gaucher Disease, Perinatal Lethal |
|
Polyhydramnios, Petechiae, Purpura, Respiratory distress, Nonimmune hydrops fetalis, Hepatospleno... |
OMIM:608013 |
| Congenital Sialidosis Type 2 |
|
Telangiectasia, Petechiae, Abnormal EKG, Hepatosplenomegaly, Edema, Abnormal heart morphology, He... |
ORPHA:93400 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells, Erythroid hy... |
OMIM:613673 |
| Primary Intestinal Lymphangiectasia |
|
Pericardial effusion, Pleural effusion, Edema, Intestinal lymphangiectasia, Ascites, Abnormal lym... |
ORPHA:90362 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Polyhydramnios, Hydrops fetalis, Ventricular septal defect, Pleural effusion, Hypertrophic cardio... |
OMIM:616897 |
| Tricuspid Atresia |
|
Patent foramen ovale, Ventricular septal defect, Transposition of the great arteries, Atrial sept... |
ORPHA:1209 |
| Free Sialic Acid Storage Disease |
|
Ascites, Hydrops fetalis, Splenomegaly, Hepatomegaly |
ORPHA:834 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Ventricular septal defect, Hepatomegaly |
OMIM:614876 |
| Pulmonary Arteriovenous Malformation |
|
Pulmonary arterial hypertension, Pulmonary hemorrhage, Telangiectasia, Bacterial endocarditis, Is... |
ORPHA:2038 |
| Congenital Disorder Of Glycosylation, Type Iir |
|
Ascites, Hepatomegaly |
OMIM:301045 |
| Lymphangioleiomyomatosis |
|
Pneumothorax, Lymphedema, Chylopericardium, Abnormality of the lymphatic system, Emphysema, Lymph... |
ORPHA:538 |
| Erythrocytosis, Familial, 3 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:609820 |
| Pediatric Systemic Lupus Erythematosus |
|
Pericardial effusion, Raynaud phenomenon, Pleural effusion, Edema, Lymphadenopathy, Dyspnea, Ascites |
ORPHA:93552 |
| Necrotizing Enterocolitis |
|
Hypotension, Apnea, Shock, Edema, Abnormal heart morphology, Ascites, Bradycardia |
ORPHA:391673 |
| Adams-Oliver Syndrome 4 |
|
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect |
OMIM:615297 |
| Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Ventricular septal defect, Atrial septal defect |
OMIM:614249 |
| Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
| Tempi Syndrome |
|
Telangiectasia, Hypoxemia, Intracranial hemorrhage, Transudative pleural effusion, Ascites |
ORPHA:284227 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Polyhydramnios, Ventricular septal defect, Lymphedema, Thyroid lymphangiectasia, Pulmonary lympha... |
OMIM:235255 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase level, Macrocytic anemia... |
OMIM:300946 |
| Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Pericarditis, Ascites, Mitral valve prolapse, Mitral regurgitation |
ORPHA:2848 |
| Aortic Arch Interruption |
|
Pedal edema, Systolic heart murmur, Left ventricular outflow tract obstruction, Truncus arteriosu... |
ORPHA:2299 |
| Aggressive Systemic Mastocytosis |
|
Hypotension, Hypersplenism, Hepatosplenomegaly, Lymphadenopathy, Gastrointestinal hemorrhage, Por... |
ORPHA:98850 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Systolic heart murmur, Supraventricular arrhythmia, Premature atrial contractions, Airway obstruc... |
ORPHA:99105 |
| Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:617980 |
| Hepatoportal Sclerosis |
|
Hypersplenism, Abnormal bleeding, Prolonged prothrombin time, Gastrointestinal hemorrhage, Portal... |
ORPHA:64743 |
| Microcephaly-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:2515 |
| Cryohydrocytosis |
|
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:185020 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Ventricular septal defect, Apnea, Hypertrophic cardiomyopathy, Respiratory failure, Bradycardia |
OMIM:616277 |
| Xk Aprosencephaly Syndrome |
|
Polyhydramnios, Ventricular septal defect, Atrial septal defect |
ORPHA:3469 |
| Bone Marrow Failure Syndrome 6 |
|
Anemia, Lymphopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia |
OMIM:618849 |
| Cardiomyopathy, Dilated, 1A |
|
Sudden cardiac death, Third degree atrioventricular block, Pericardial effusion, Ventricular arrh... |
OMIM:115200 |
| Factor V Excess With Spontaneous Thrombosis |
|
Pulmonary embolism |
OMIM:134400 |
| Congenital Tricuspid Valve Dysplasia |
|
Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Pericardial effusion, Hypoxemia, Abnor... |
ORPHA:555874 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sudden cardiac death, Supraventricular tachycardia, Sinoatrial block, Pericardial effusion, Ventr... |
ORPHA:300751 |
| Polysyndactyly With Cardiac Malformation |
|
Polyhydramnios, Stillbirth, Ventricular septal defect, Atrial septal defect |
OMIM:263630 |
| Fetal Minoxidil Syndrome |
|
Ventricular septal defect |
ORPHA:1918 |
| Niemann-Pick Disease, Type A |
|
Ascites, Lymphadenopathy, Splenomegaly, Hepatomegaly |
OMIM:257200 |
| Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Asthma, Pulmonic stenosis, Atrial septal defect, Ventricular septal defect |
OMIM:614262 |
| Malignant Peritoneal Mesothelioma |
|
Pedal edema, Ascites, Dyspnea |
ORPHA:168811 |
| Crimean-Congo Hemorrhagic Fever |
|
Hypotension, Hemoperitoneum, Pericardial effusion, Tachycardia, Abnormal left ventricular functio... |
ORPHA:99827 |
| Right Atrial Isomerism |
|
Right atrial isomerism, Asplenia, Ventricular septal defect, Common atrium, Polysplenia, Atrial s... |
OMIM:208530 |
| Griscelli Syndrome |
|
Pedal edema, Lymphadenopathy, Hepatomegaly, Ascites, Splenomegaly |
ORPHA:381 |
| Catel-Manzke Syndrome |
|
Ventricular septal defect, Atrial septal defect |
ORPHA:1388 |
| Ovarian Hyperstimulation Syndrome |
|
Hypovolemia, Pulmonary edema, Pleural effusion, Peripheral edema, Capillary leak, Ascites, Genera... |
ORPHA:64739 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Pedal edema, Systolic heart murmur, Supraventricular arrhythmia, Breathing dysregulation, Abnorma... |
ORPHA:99103 |
| Feingold Syndrome Type 2 |
|
Ventricular septal defect |
ORPHA:391646 |
| Desmoplastic Small Round Cell Tumor |
|
Ascites, Lymphadenopathy, Mediastinal lymphadenopathy, Hepatomegaly |
ORPHA:83469 |
| Idiopathic Pulmonary Arterial Hypertension |
|
Pulmonary arterial hypertension, Elevated pulmonary artery pressure, Pedal edema, Heart murmur, S... |
ORPHA:275766 |
| Red Cell Permeability Defect |
|
Elliptocytosis |
OMIM:179650 |
| Wolman Disease |
|
Ascites, Splenomegaly, Hepatomegaly |
ORPHA:75233 |
| Thrombophilia Due To Protein C Deficiency, Autosomal Recessive |
|
Pulmonary embolism, Vitreous hemorrhage, Purpura |
OMIM:612304 |
| Ciliary Dyskinesia, Primary, 30 |
|
Respiratory insufficiency, Decreased nasal nitric oxide, Ventricular septal defect, Bronchiectasi... |
OMIM:616037 |
| Aicardi-Goutieres Syndrome 9 |
|
Pericardial effusion, Left ventricular hypertrophy, Hypertension, Hepatosplenomegaly, Pericarditi... |
OMIM:619487 |
| Grange Syndrome |
|
Aortic regurgitation, Ventricular septal defect, Hypertension, Patent ductus arteriosus |
ORPHA:79094 |
| Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Ascites, Splenomegaly |
ORPHA:131 |
| Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect, Abnormal abdomen morphology |
OMIM:209770 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Mitral regurgitation, Ventricular septal defect, Abnormal cardiac septum morphology |
ORPHA:83473 |
| Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Ventricular septal defect, Atrial septal defect |
OMIM:608227 |
| Eosinophilic Gastroenteritis |
|
Allergic rhinitis, Asthma, Edema, Ascites, Hematochezia |
ORPHA:2070 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Pulmonary embolism, Pedal edema, Hypertension, Pleural effusion, Edema, Dyspnea, Palpebral edema,... |
ORPHA:567546 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Neonatal death, Ventricular septal defect, Hepatomegaly |
OMIM:613730 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Abnormal left ventricular outflow tract morphology, Premature atr... |
ORPHA:216694 |
| Feingold Syndrome 2 |
|
Ventricular septal defect |
OMIM:614326 |
| Long Qt Syndrome 16 |
|
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect, T-wave al... |
OMIM:618782 |
| Bardet-Biedl Syndrome 19 |
|
Patent ductus arteriosus, Hypoplastic left heart, Ventricular septal defect, Atrial septal defect |
OMIM:615996 |
| Adams-Oliver Syndrome |
|
Pulmonary arterial hypertension, Abnormal pulmonary valve morphology, Gastrointestinal hemorrhage... |
ORPHA:974 |
| Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:619717 |
| Primary Hepatic Neuroendocrine Carcinoma |
|
Facial telangiectasia, Heart murmur, Bronchospasm, Right ventricular failure, Palpitations, Dyspn... |
ORPHA:100085 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Subvalvular aortic stenosis, Ventricular septal defect, Secundum atrial septal defect, Left ventr... |
OMIM:108900 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Polyhydramnios, Ventricular septal defect, Pulmonary lymphangiectasia, Hepatosplenomegaly, Pancre... |
ORPHA:1655 |
| Short-Rib Thoracic Dysplasia 12 |
|
Respiratory insufficiency, Patent foramen ovale, Patent ductus arteriosus, Polyhydramnios, Ventri... |
OMIM:269860 |
| Ventricular Septal Defect 3 |
|
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect |
OMIM:614432 |
| Timothy Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Prolonged QT interval,... |
OMIM:601005 |
| Carney Triad |
|
Hypertension, Lymphadenopathy, Gastrointestinal hemorrhage, Arrhythmia, Mediastinal lymphadenopat... |
ORPHA:139411 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Atrioventricular canal defect, Ventricular septal defect, Transposition of the great arteries, Po... |
OMIM:613751 |
| Choanal Atresia And Lymphedema |
|
Pericardial effusion, Lymphedema |
OMIM:613611 |
| Noonan Syndrome 12 |
|
Supravalvular aortic stenosis, Polyhydramnios, Tetralogy of Fallot, Ventricular septal defect |
OMIM:618624 |
| Beta-Thalassemia |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:848 |
| 8P23.1 Duplication Syndrome |
|
Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect |
ORPHA:251076 |
| Lethal Congenital Contracture Syndrome 2 |
|
Polyhydramnios, Ventricular septal defect, Dilated cardiomyopathy, Edema, Respiratory failure |
OMIM:607598 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Restrictive cardiomyopathy, Hypoplasia of the thymus, Pericardial effusion, Nonimmune hydrops fet... |
OMIM:619313 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Paroxysmal atrial tachycardia, Ventricular septal defect, Cardiac arrest, Congestive heart failur... |
ORPHA:49827 |
| Adams-Oliver Syndrome 6 |
|
Ventricular septal defect, Truncus arteriosus, Portal hypertension, Splenomegaly, Tricuspid regur... |
OMIM:616589 |
| Hb Bart'S Hydrops Fetalis |
|
Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
| Ovarian Fibroma |
|
Pleural effusion, Ascites |
ORPHA:314473 |
| Thrombophilia Due To Protein S Deficiency, Autosomal Dominant |
|
Pulmonary embolism, Purpura |
OMIM:612336 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Pulmonary hemorrhage, Recurrent aspiration pneumonia, Hepatosplenomegaly, Absence of lymph node g... |
ORPHA:79124 |
| Mmep Syndrome |
|
Ventricular septal defect |
ORPHA:3434 |
| Noonan Syndrome 8 |
|
Patent ductus arteriosus, Polyhydramnios, Ventricular septal defect, Left ventricular hypertrophy... |
OMIM:615355 |
| Laubry-Pezzi Syndrome |
|
Elevated pulmonary artery pressure, Patent foramen ovale, Patent ductus arteriosus, Right ventric... |
ORPHA:99094 |
| Acute Interstitial Pneumonia |
|
Bronchiectasis, Pericardial effusion, Hypoxemia, Hypertension, Pleural effusion, Crackles, Lympha... |
ORPHA:79126 |
| Congenital Alveolar Capillary Dysplasia |
|
Pulmonary arterial hypertension, Atrioventricular canal defect, Pulmonary valve atresia, Patent d... |
ORPHA:210122 |
| Immunodeficiency 87 And Autoimmunity |
|
Pulmonary arterial hypertension, Atrioventricular canal defect, Third degree atrioventricular blo... |
OMIM:619573 |
| Atrial Septal Defect, Ostium Primum Type |
|
Systolic heart murmur, Airway obstruction, Palpitations, Peripheral edema, Abnormal P wave, Tricu... |
ORPHA:99106 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Polyhydramnios, Pericardial effusion, Pleural effusion, Anasarca, Ascites, Hematochezia |
OMIM:618183 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Galactosemia |
|
Ascites, Abnormal bleeding, Hepatomegaly |
ORPHA:352 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Patent ductus arteriosus, Hydrops fetalis, Ventricular septal defect, Lymphedema, Atrial septal d... |
OMIM:601927 |
| Kaposiform Lymphangiomatosis |
|
Epidural hemorrhage, Pericardial effusion, Abnormal spleen morphology, Abnormal bleeding, Abnorma... |
ORPHA:464329 |
| Lymphatic Malformation 12 |
|
Polyhydramnios, Lymphedema, Nonimmune hydrops fetalis, Fetal ascites, Neonatal respiratory distre... |
OMIM:620014 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Ascites, Splenomegaly, Hepatomegaly |
OMIM:602347 |
| Immunodeficiency 22 |
|
Pericarditis, Ascites, Capillary leak |
OMIM:615758 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Pulmonary arterial hypertension, Systolic heart murmur, Exertional dyspnea, Unroofed coronary sin... |
ORPHA:99104 |
| Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Ventricular septal defect |
OMIM:613759 |
| Reynolds Syndrome |
|
Respiratory insufficiency, Mucosal telangiectasiae, Xerostomia, Hepatomegaly, Telangiectasia of t... |
ORPHA:779 |
| Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Pulmonary embolism, Purpura, Cerebral hemorrhage |
OMIM:614514 |
| Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Patent ductus arteriosus, Pedal edema, Ventricular septal defect, Sinus bradycardia |
OMIM:126320 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Left ventricular outflow tract obstruction, Ventricular septal def... |
OMIM:613854 |
| Congenital Alpha2-Antiplasmin Deficiency |
|
Hemothorax, Persistent bleeding after trauma, Abnormal umbilical stump bleeding, Abnormal bleedin... |
ORPHA:79 |
| Atrial Septal Defect 9 |
|
Pulmonary arterial hypertension, Bicuspid aortic valve, Secundum atrial septal defect |
OMIM:614475 |
| Primary Familial Polycythemia |
|
Abnormal hemoglobin, Polycythemia |
ORPHA:90042 |
| 14Q11.2 Microdeletion Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:261120 |
| Cirrhosis, Familial |
|
Pulmonary arterial hypertension, Ascites, Hypertension |
OMIM:215600 |
| Roifman Syndrome |
|
Ventricular septal defect, Noncompaction cardiomyopathy, Recurrent pneumonia, Lymphadenopathy, He... |
OMIM:616651 |
| Craniofaciofrontodigital Syndrome |
|
Pulmonary arterial hypertension, Patent ductus arteriosus, Polyhydramnios, Cardiomegaly, Persiste... |
ORPHA:363705 |
| Weill-Marchesani Syndrome |
|
Aortic valve stenosis, Mitral regurgitation, Pulmonic stenosis, Ventricular septal defect |
ORPHA:3449 |
| Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Pleural effusion, Ascites, Nonimmune hydrops fetalis, Prolonged prothrombin time |
OMIM:617049 |
| Atrioventricular septal defect 3 |
|
Pulmonary arterial hypertension, Atrioventricular canal defect, Inlet ventricular septal defect, ... |
OMIM:600309 |
| Diamond-Blackfan Anemia 6 |
|
Patent ductus arteriosus, Ventricular hypertrophy, Ventricular septal defect, Mitral valve prolap... |
OMIM:612561 |
| Criss-Cross Heart |
|
Respiratory insufficiency, Ventricular septal defect, Abnormal mitral valve morphology, Mitral st... |
ORPHA:1461 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Ventricular septal defect, Respiratory insufficiency due to muscle weakness |
OMIM:616816 |
| Wolcott-Rallison Syndrome |
|
Double outlet right ventricle, Atrial septal defect, Hepatomegaly, Dehydration, Ascites |
ORPHA:1667 |
| Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Elevated pulmonary artery pressure, Edema, Pulmonary edema |
OMIM:178400 |
| Transaldolase Deficiency |
|
Patent ductus arteriosus, Patent foramen ovale, Telangiectasia, Ventricular septal defect, Asthma... |
OMIM:606003 |
| Hennekam Syndrome |
|
Respiratory insufficiency, Hydrops fetalis, Lymphedema, Pericardial effusion, Pulmonary lymphangi... |
ORPHA:2136 |
| Primary Non-Essential Cutis Verticis Gyrata |
|
Ventricular septal defect, Atrial septal defect |
ORPHA:357225 |
| Double Outlet Right Ventricle |
|
Double outlet right ventricle, Truncus arteriosus, Ventricular septal defect, Heart murmur, Aplas... |
ORPHA:3426 |
| Scimitar Syndrome |
|
Pneumothorax, Truncus arteriosus, Heart block, Double outlet right ventricle, Ventricular septal ... |
ORPHA:185 |
| Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:617992 |
| Neurooculocardiogenitourinary Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, ... |
OMIM:618652 |
| Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Atrial septal defect |
OMIM:617044 |
| Autoimmune Hepatitis |
|
Spider hemangioma, Ascites, Splenomegaly, Gastrointestinal hemorrhage |
ORPHA:2137 |
| 16P13.11 Microduplication Syndrome |
|
Tetralogy of Fallot, Transposition of the great arteries, Ventricular septal defect, Atrial septa... |
ORPHA:261243 |
| Fadd-Related Immunodeficiency |
|
Ventricular septal defect |
ORPHA:306550 |
| Polycythemia Vera |
|
Respiratory insufficiency, Pulmonary embolism, Intermittent claudication, Angina pectoris, Bruisi... |
ORPHA:729 |
| Li-Campeau Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Atrial septal defect |
OMIM:619189 |
| Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Polyhydramnios, Hydrops fetalis, Abnormal tricuspid valve morphology, Ventricular septal defect |
ORPHA:3405 |
| Atrial Septal Defect 1 |
|
Subvalvular aortic stenosis, Ventricular septal defect, Tetralogy of Fallot with pulmonary atresi... |
OMIM:108800 |
| Alg8-Cdg |
|
Edema, Ascites, Hydrops fetalis, Oligohydramnios |
ORPHA:79325 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Patent foramen ovale, Ventricular septal defect, Episodic tachypnea, Pericardial effusion, Respir... |
ORPHA:26793 |
| Chondrodysplasia, Blomstrand Type |
|
Polyhydramnios, Hydrops fetalis, Stillbirth, Fetal ascites |
OMIM:215045 |
| Gracile Bone Dysplasia |
|
Hypoplastic spleen, Asplenia, Ascites |
OMIM:602361 |
| Classic Galactosemia |
|
Ascites, Hepatomegaly |
ORPHA:79239 |
| Familial Mediterranean Fever |
|
Pedal edema, Pericarditis, Myocardial infarction, Lymphadenopathy, Arrhythmia, Ascites, Splenomeg... |
ORPHA:342 |
| Microphthalmia, Syndromic 12 |
|
Hypoplastic left atrium, Ventricular septal defect |
OMIM:615524 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Atrial septal defect, Situs inversus totalis, Arrhythmia, Cardiomyopathy |
OMIM:249270 |
| Congenital Rubella Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Hepatomegaly, Splenome... |
ORPHA:290 |
| Ovarian Fibrothecoma |
|
Pleural effusion, Ascites |
ORPHA:314478 |
| Kagami-Ogata Syndrome |
|
Pulmonary arterial hypertension, Patent ductus arteriosus, Polyhydramnios, Splenomegaly, Ventricu... |
OMIM:608149 |
| Mucopolysaccharidosis Type 7 |
|
Ascites, Hydrops fetalis, Splenomegaly, Lymphedema |
ORPHA:584 |
| Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect |
OMIM:618330 |
| Congenital Tracheomalacia |
|
Respiratory insufficiency, Pneumothorax, Bronchiectasis, Productive cough, Pneumonia, Wheezing, V... |
ORPHA:95430 |
| Chromosome 15Q14 Deletion Syndrome |
|
Ventricular septal defect, Atrial septal defect |
OMIM:616898 |
| Cardiac Diverticulum |
|
Angina pectoris, Bicuspid pulmonary valve, Palpitations, Endocarditis, Patent foramen ovale, Vent... |
ORPHA:1686 |
| Farber Disease |
|
Respiratory insufficiency, Hydrops fetalis, Respiratory distress, Hepatosplenomegaly, Lymphadenop... |
ORPHA:333 |
| Leigh Syndrome With Leukodystrophy |
|
Apnea, Hypertrophic cardiomyopathy, Ventricular septal defect |
ORPHA:255241 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Patent ductus arteriosus, Ventricular septal defect, Hypertension, Atrial septal defect, Tachycardia |
OMIM:613870 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Pulmonary arterial hypertension, Pulmonary embolism, Abnormal T-wave, Right bundle branch block, ... |
ORPHA:70591 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hepatosplenomegaly, Stillbirth, Hepatomegaly, Respiratory failure, Ascites, Splenomegaly |
OMIM:259720 |
| Sclerosing Cholangitis, Neonatal |
|
Ascites, Portal hypertension, Splenomegaly, Hepatomegaly |
OMIM:617394 |
| 46,Xx Sex Reversal 5 |
|
Hypoplastic left heart, Secundum atrial septal defect, Ventricular septal defect |
OMIM:618901 |
| Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect |
OMIM:612946 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Patent foramen ovale, Hypoplasia of the thymus, Emphysema, Recurrent pneumonia, Accessory spleen,... |
OMIM:613177 |
| Cardiac Valvular Dysplasia 1 |
|
Patent foramen ovale, Hydrops fetalis, Ventricular septal defect, Valvular pulmonary stenosis, Mi... |
OMIM:212093 |
| Cardiofaciocutaneous Syndrome 3 |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis, Atrial septal defect, Ventricular septal defect |
OMIM:615279 |
| Cardiomyopathy, Dilated, 1S |
|
Sudden cardiac death, Pulmonary arterial hypertension, Interstitial cardiac fibrosis, Reduced lef... |
OMIM:613426 |
| Tyrosinemia, Type I |
|
Hypertrophic cardiomyopathy, Prolonged prothrombin time, Gastrointestinal hemorrhage, Hepatomegal... |
OMIM:276700 |
| Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:235750 |
| Aortic Valve Disease 1 |
|
Mitral atresia, Double outlet right ventricle, Ventricular septal defect, Mitral stenosis, Bicusp... |
OMIM:109730 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Atrioventricular canal defect, Polyhydramnios, Unbalanced atrioventricular canal defect, Cardiac ... |
OMIM:619534 |
| Absence Of The Pulmonary Artery |
|
Pedal edema, Systolic heart murmur, Truncus arteriosus, Bronchiectasis, Abnormal cardiac septum m... |
ORPHA:980 |
| Meacham Syndrome |
|
Patent ductus arteriosus, Neonatal death, Ventricular septal defect, Cardiac total anomalous pulm... |
OMIM:608978 |
| 8Q12 Microduplication Syndrome |
|
Ventricular septal defect, Atrial septal defect |
ORPHA:228399 |
| Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect |
OMIM:618974 |
| Genitopalatocardiac Syndrome |
|
Double outlet right ventricle, Transposition of the great arteries, Ventricular septal defect |
OMIM:231060 |
| Tyshchenko Syndrome |
|
Polyhydramnios, Ventricular septal defect, Atrial septal defect, Sleep apnea, Pulmonic stenosis |
OMIM:615102 |
| Recombinant Chromosome 8 Syndrome |
|
Patent ductus arteriosus, Double outlet right ventricle, Ventricular septal defect, Atrial septal... |
OMIM:179613 |
| Holt-Oram Syndrome |
|
Patent ductus arteriosus, Atrioventricular canal defect, Ventricular septal defect, Atrial septal... |
ORPHA:392 |
| Granulomatous Disease, Chronic, X-Linked |
|
Lymphadenitis, Pleural effusion, Recurrent pneumonia, Lymphadenopathy, Cough, Hepatomegaly, Ascit... |
OMIM:306400 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Patent ductus arteriosus, Ventricular septal defect, Increased size of nasopharyngeal adenoids, A... |
OMIM:619769 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Respiratory insufficiency, Tetralogy of Fallot, Ventricular septal defect |
ORPHA:1166 |
| Ritscher-Schinzel Syndrome 1 |
|
Double outlet right ventricle, Ventricular septal defect, Atrial septal defect, Hypoplastic left ... |
OMIM:220210 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Pulmonary arterial hypertension, Patent foramen ovale, Ventricular septal defect, Left ventricula... |
OMIM:615474 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Ascites, Portal hypertension, Splenomegaly, Hepatomegaly |
OMIM:251880 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Hypoplastic left heart, Ventricular septal defect |
ORPHA:2476 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Pulmonary arterial hypertension, Ventricular hypertrophy, Ventricular septal defect, Hypertension... |
ORPHA:369929 |
| Fraser Syndrome 3 |
|
Ascites, Nonimmune hydrops fetalis, Stillbirth, Oligohydramnios |
OMIM:617667 |
| Alpha-2-Plasmin Inhibitor Deficiency |
|
Joint hemorrhage, Hemothorax, Bruising susceptibility, Persistent bleeding after trauma |
OMIM:262850 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Hypertrophic cardi... |
OMIM:618775 |
| Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Ventricular septal defect |
OMIM:618506 |
| Congenital Enterovirus Infection |
|
Hypotension, Polyhydramnios, Hydrops fetalis, Pericardial effusion, Abnormal bleeding, Respirator... |
ORPHA:292 |
| Cardiogenic Shock |
|
Hypotension, Impaired myocardial contractility, Abnormal EKG, Elevated jugular venous pressure, C... |
ORPHA:97292 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Ventricular septal defect, Truncus arteriosus |
OMIM:601355 |
| Drug-Induced Lupus Erythematosus |
|
Petechiae, Pericardial effusion, Pericarditis, Dyspnea, Prolonged QTc interval |
ORPHA:231111 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Subvalvular aortic stenosis, Atrioventricular canal defect, Polyhydramnios, Asplenia, Hepatomegal... |
OMIM:306955 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Abnormal heart morphology, Truncus arteriosus, Atrial septal defect, Ventricular septal defect |
ORPHA:401935 |
| Lymphoproliferative Syndrome 1 |
|
Pericardial effusion, Pleural effusion, Lymphadenopathy, Hepatomegaly, Splenomegaly |
OMIM:613011 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Pulmonary arterial hypertension, Patent ductus arteriosus, Left ventricular outflow tract obstruc... |
ORPHA:99050 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Patent ductus arteriosus, Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic val... |
ORPHA:284169 |
| Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Ventricular septal defect |
ORPHA:94066 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Ventricular septal defect, Asthma, Hypoxemia, Respiratory distress, Atrial septal defect, Oxygen ... |
OMIM:610978 |
| Serkal Syndrome |
|
Oligohydramnios, Pulmonic stenosis, Ventricular septal defect |
ORPHA:139466 |
| Fetal Trimethadione Syndrome |
|
Tetralogy of Fallot, Transposition of the great arteries, Ventricular septal defect, Atrial septa... |
ORPHA:1913 |
| Pulmonary Hypertension, Primary, 1 |
|
Pulmonary arterial hypertension, Telangiectasia, Hypertension, Increased pulmonary vascular resis... |
OMIM:178600 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Patent ductus arteriosus, Double outlet right ventricle, Asplenia, Unbalanced atrioventricular ca... |
OMIM:619657 |
| Lambert Syndrome |
|
Ventricular septal defect |
ORPHA:1296 |
| Keutel Syndrome |
|
Pulmonary arterial hypertension, Recurrent sinusitis, Ventricular septal defect |
ORPHA:85202 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Oligohydramnios, Abnormal ... |
OMIM:618494 |
| Q Fever |
|
Endocarditis, Myocarditis, Splenomegaly, Pericardial effusion, Purpura, Respiratory distress, Hep... |
ORPHA:781 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Subvalvular aortic stenosis, Polyhydramnios, Atrial septal defect, Apnea, Aortic regurgitation, A... |
ORPHA:1052 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Patent ductus arteriosus, Patent foramen ovale, Tracheobronchomalacia, Ventricular septal defect,... |
ORPHA:500159 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Patent ductus arteriosus, Peau d'orange, Ventricular septal defect, Abnormal bleeding, Atrial sep... |
OMIM:614576 |
| Lysosomal Acid Lipase Deficiency |
|
Hypotension, Pulmonary arterial hypertension, Hypovolemia, Hypersplenism, Hepatosplenomegaly, Deh... |
ORPHA:275761 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Partial atrioventricular canal defect, Ventricular septal defect, Bicuspid aortic valve, Secundum... |
OMIM:620066 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Hypoplastic left heart, Ventricular septal defect |
ORPHA:2772 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Atrioventricular canal defect, Polyhydramnios, Asplenia, Nonimmune hydrops fetalis, Pleural effus... |
OMIM:265380 |
| Catastrophic Antiphospholipid Syndrome |
|
Pulmonary arterial hypertension, Pulmonary embolism, Arterial occlusion, Transient ischemic attac... |
ORPHA:464343 |
| Aorta Coarctation |
|
Pulmonary arterial hypertension, Aortic valve atresia, Patent ductus arteriosus, Perimembranous v... |
ORPHA:1457 |
| Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, ... |
OMIM:618870 |
| Lymphoid Interstitial Pneumonia |
|
Bronchiectasis, Raynaud phenomenon, Hypoxemia, Crackles, Restrictive ventilatory defect, Dyspnea,... |
ORPHA:79128 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Pulmonary arterial hypertension, Patent ductus arteriosus, Ventricular septal defect, Respiratory... |
ORPHA:2519 |
| Trigonocephaly With Short Stature And Developmental Delay |
|
Ventricular septal defect |
OMIM:314320 |
| Gallbladder Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Ascites |
ORPHA:100086 |
| Pulmonary Hypertension, Primary, 4 |
|
Pulmonary arterial hypertension, Elevated pulmonary artery pressure, Right bundle branch block, I... |
OMIM:615344 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Polyhydramnios, Ventricular septal defect |
ORPHA:2256 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Systolic heart murmur, Truncus arteriosus, Ventricular septal defect, Atrial septal defect, Parti... |
OMIM:617478 |
| Hypoplastic Left Heart Syndrome 2 |
|
Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect |
OMIM:614435 |
| Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Ventricular septal defect |
ORPHA:3369 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Ascites, Hydrops fetalis |
OMIM:614091 |
| Developmental And Epileptic Encephalopathy 66 |
|
Dextrocardia, Ventricular septal defect, Atrial septal defect |
OMIM:618067 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Patent foramen ovale, Ventricular septal defect, Abnormal bleeding, Atrial septal defect, Oligohy... |
OMIM:208085 |
| Peripheral Primitive Neuroectodermal Tumor |
|
Ascites, Abnormal bleeding, Pelvic mass |
ORPHA:370348 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Hypoplastic right heart, Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus |
OMIM:618142 |
| Cardiac-Urogenital Syndrome |
|
Patent ductus arteriosus, Cor triatrium sinister, Ventricular septal defect, Coronary sinus enlar... |
OMIM:618280 |
| Congenital Tricuspid Stenosis |
|
Pulmonary arterial hypertension, Hypotension, Bacterial endocarditis, Heart murmur, Congestive he... |
ORPHA:95459 |
| Meacham Syndrome |
|
Patent ductus arteriosus, Conotruncal defect, Ventricular septal defect, Atrial septal defect, Hy... |
ORPHA:3097 |
| Hepatocellular Carcinoma |
|
Hypotension, Pedal edema, Internal hemorrhage, Dyspnea, Hepatomegaly, Anasarca, Ascites, Portal h... |
ORPHA:88673 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Pulmonary arterial hypertension, Patent ductus arteriosus, Splenomegaly, Facial telangiectasia, V... |
OMIM:602782 |
| Coffin-Siris Syndrome 7 |
|
Patent foramen ovale, Polyhydramnios, Ventricular septal defect, Bicuspid aortic valve, Oligohydr... |
OMIM:618027 |
| Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Erythroid hyperplasia, Hepatosplenomegaly, Persistence of hemoglobin F... |
ORPHA:231222 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Ventricular septal defect, Lymphedema, Pericardial effusion, Thyroid lymphangiectasia, Pulmonary ... |
OMIM:235510 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Splenomegaly, Ventricular septal defect, Hepatomegaly |
OMIM:615630 |
| Autosomal Dominant Coarctation Of Aorta |
|
Patent ductus arteriosus, Hypoplastic left heart, Ventricular septal defect |
ORPHA:1455 |
| Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Pulmonary embolism, Purpura, Subcutaneous hemorrhage |
ORPHA:743 |
| Microphthalmia, Syndromic 9 |
|
Respiratory insufficiency, Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defec... |
OMIM:601186 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
| 22Q11.2 Duplication Syndrome |
|
Ventricular septal defect, Aplasia/Hypoplasia of the thymus, Hypoplastic left heart, Tetralogy of... |
ORPHA:1727 |
| Familial Multiple Nevi Flammei |
|
Pulmonary embolism, Edema, Intracranial hemorrhage, Arrhythmia |
ORPHA:624 |
| Acrocephalopolydactylous Dysplasia |
|
Ascites, Polysplenia, Hepatomegaly |
OMIM:200995 |
| Caroli Disease |
|
Ascites, Portal hypertension, Splenomegaly, Hepatomegaly |
ORPHA:53035 |
| Grfoma |
|
Neoplasm of the thymus, Abnormal abdomen morphology, Gastrointestinal hemorrhage, Hepatomegaly, A... |
ORPHA:97261 |
| Intrahepatic Cholestasis Of Pregnancy |
|
Neonatal respiratory distress, Ascites |
ORPHA:69665 |
| Noonan Syndrome 9 |
|
Pulmonic stenosis, Prolonged prothrombin time, Ventricular septal defect |
OMIM:616559 |
| Noonan Syndrome 4 |
|
Polyhydramnios, Ventricular septal defect, Abnormal bleeding, Bruising susceptibility, Atrial sep... |
OMIM:610733 |
| Microcephaly-Capillary Malformation Syndrome |
|
Patent foramen ovale, Right ventricular hypertrophy, Ventricular septal defect, Atrial septal defect |
OMIM:614261 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Hypoventilation, Hypersplenism, Hypertension, Oligohydramnios, Hepatosplenomegaly, Recurrent pneu... |
ORPHA:731 |
| Prune Belly Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Oligohydramnios, Tetra... |
ORPHA:2970 |
| Generalized Arterial Calcification Of Infancy |
|
Pulmonary arterial hypertension, Retinal hemorrhage, Ventricular hypertrophy, Polyhydramnios, Hyd... |
ORPHA:51608 |
| Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Pulmonary embolism, Purpura |
ORPHA:745 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Patent ductus arteriosus, Patent foramen ovale, Double outlet right ventricle, Ventricular septal... |
OMIM:618316 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Ventricular septal defect |
OMIM:602501 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Abnormal heart morphology, Ventricular septal defect, Polyhydramnios |
ORPHA:254534 |
| Cutis Marmorata Telangiectatica Congenita |
|
Patent ductus arteriosus, Subcutaneous hemorrhage, Purpura, Telangiectasia of the skin, Ascites |
ORPHA:1556 |
| Pontocerebellar Hypoplasia, Type 17 |
|
Respiratory insufficiency, Secundum atrial septal defect, Ventricular septal defect, Patent ductu... |
OMIM:619909 |
| Filippi Syndrome |
|
Ventricular septal defect |
OMIM:272440 |
| Noonan Syndrome 10 |
|
Patent ductus arteriosus, Ventricular septal defect, Mitral stenosis, Mitral valve prolapse, Left... |
OMIM:616564 |
| Xfe Progeroid Syndrome |
|
Ascites, Hypertension |
OMIM:610965 |
| Gaucher Disease Type 3 |
|
Pulmonary arterial hypertension, Splenomegaly, Hydrops fetalis, Pericardial effusion, Abnormal he... |
ORPHA:77261 |
| Primary Sclerosing Cholangitis |
|
Spider hemangioma, Congestive heart failure, Hepatosplenomegaly, Pleural effusion, Prolonged prot... |
ORPHA:171 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Patent ductus arteriosus, Tracheobronchomalacia, Ventricular septal defect, Bicuspid aortic valve... |
OMIM:617751 |
| Liver Disease, Severe Congenital |
|
Subvalvular aortic stenosis, Patent ductus arteriosus, Systolic heart murmur, Status asthmaticus,... |
OMIM:619991 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Ventricular septal defect |
ORPHA:93267 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Ascites, Aspiration pneumonia, Splenomegaly, Hepatomegaly |
OMIM:301072 |
| Senior-Boichis Syndrome |
|
Ascites, Portal hypertension, Hypertension, Hepatosplenomegaly |
ORPHA:84081 |
| 15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Atrial septal defect, Abnormal heart morphology, Total anomalous pulmo... |
ORPHA:261183 |
| Chromosome 1P36 Deletion Syndrome, Proximal |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Coronary artery fistul... |
OMIM:619343 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect |
OMIM:214300 |
| Delpire-Mcneill Syndrome |
|
Ventricular septal defect |
OMIM:619083 |
| 3C Syndrome |
|
Atrioventricular canal defect, Ventricular septal defect, Abnormal mitral valve morphology, Atria... |
ORPHA:7 |
| Pulmonary Hypertension, Primary, 3 |
|
Pulmonary arterial hypertension, Increased pulmonary vascular resistance, Dyspnea, Elevated pulmo... |
OMIM:615343 |
| Heterotaxy, Visceral, 12, Autosomal |
|
Patent ductus arteriosus, Patent foramen ovale, Double outlet right ventricle, Congenitally corre... |
OMIM:619702 |
| Cardiofacioneurodevelopmental Syndrome |
|
Atrioventricular canal defect, Pulmonic stenosis, Asplenia, Ventricular septal defect |
OMIM:619123 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Polyhydramnios, Ascites, Congestive heart failure, Respiratory distress |
OMIM:617156 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Ventricular septal defec... |
OMIM:617205 |
| Congenital Disorder Of Glycosylation, Type It |
|
Sudden cardiac death, Pulmonary arterial hypertension, Ventricular septal defect, Dilated cardiom... |
OMIM:614921 |
| Functioning Gonadotropic Adenoma |
|
Ascites |
ORPHA:91348 |
| Truncus Arteriosus |
|
Patent ductus arteriosus, Hypoplasia of the thymus, Truncus arteriosus, Ventricular septal defect... |
ORPHA:3384 |
| Tatton-Brown-Rahman Syndrome |
|
Mitral regurgitation, Ventricular septal defect, Atrial septal defect, Tricuspid regurgitation |
OMIM:615879 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Supracardiac total anomalous pulmonary venous connection, Hepatomegaly, Tricuspid regurgitation, ... |
ORPHA:99125 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Truncus arteriosus, Ventricular septal defect |
ORPHA:2516 |
| Emanuel Syndrome |
|
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect, Recurrent sinusitis, Atr... |
OMIM:609029 |
| Hughes-Stovin Syndrome |
|
Pulmonary arterial hypertension, Pulmonary embolism, Pedal edema, Cardiorespiratory arrest, Cough... |
ORPHA:228116 |
| Woods Syndrome |
|
Ventricular septal defect |
OMIM:615236 |
| Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve,... |
ORPHA:329224 |
| Myopathy With Extrapyramidal Signs |
|
Splenomegaly, Ventricular septal defect, Hepatomegaly |
OMIM:615673 |
| Lymphedema-Distichiasis Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Lymphedema, Predominantly lower limb lymphed... |
OMIM:153400 |
| Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Increased nuchal translucency, Ventricular septal defect |
OMIM:617635 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Mitral regurgitation, Ventricular septal defect, Atrial septal defect |
OMIM:301039 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Mitral regurgitation, Ventricular septal defect, Atrial septal defect |
OMIM:603387 |
| Lethal Congenital Contracture Syndrome 10 |
|
Hydrops fetalis, Hypoplasia of the thymus, Ventricular septal defect, Oligohydramnios, Cardiomega... |
OMIM:617022 |
| Desbuquois Syndrome |
|
Ventricular septal defect |
ORPHA:1425 |
| Transketolase Deficiency |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, ... |
ORPHA:488618 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Neonatal respiratory distress, Ventricular septal defect, Recurrent aspiration pneumonia |
ORPHA:79243 |
| 19P13.3 Microduplication Syndrome |
|
Pulmonary arterial hypertension, Ventricular septal defect |
ORPHA:447980 |
| Gm1 Gangliosidosis |
|
Patent ductus arteriosus, Hydrops fetalis, Aspiration pneumonia, Ventricular septal defect, Conge... |
ORPHA:354 |
| Methimazole Embryofetopathy |
|
Polyhydramnios, Ventricular septal defect |
ORPHA:1923 |
| Vipoma |
|
Abnormal abdomen morphology, Hepatomegaly, Dehydration, Ascites, Hematochezia, Respiratory insuff... |
ORPHA:97282 |
| Oculoauriculofrontonasal Syndrome |
|
Ventricular septal defect |
ORPHA:398156 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
| Ritscher-Schinzel Syndrome 2 |
|
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect |
OMIM:300963 |
| Histiocytoid Cardiomyopathy |
|
Supraventricular tachycardia, Right bundle branch block, Ventricular septal defect, Pulmonary ede... |
ORPHA:137675 |
| Ppoma |
|
Abnormal abdomen morphology, Ascites, Gastrointestinal hemorrhage, Hepatomegaly |
ORPHA:97278 |
| Suleiman-El-Hattab Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Atrial septal defect |
OMIM:618950 |
| Jansen-De Vries Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect |
OMIM:617450 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Atrial reentry tachycardia, Atrioventricular canal defect, Right atrial isomerism, Double outlet ... |
OMIM:270100 |
| Galloway-Mowat Syndrome 7 |
|
Edema, Dilated cardiomyopathy, Ventricular septal defect |
OMIM:618348 |
| Dominant Beta-Thalassemia |
|
Hypersplenism, Reduced hemoglobin A, Decreased mean corpuscular hemoglobin concentration, Hepatos... |
ORPHA:231226 |
| Beta-Thalassemia Major |
|
Hypersplenism, Reduced hemoglobin A, Anisopoikilocytosis, Decreased mean corpuscular hemoglobin c... |
ORPHA:231214 |
| Idiopathic Hypereosinophilic Syndrome |
|
Pulmonary embolism, Generalized lymphadenopathy, Asthma, Transient ischemic attack, Supraventricu... |
ORPHA:3260 |
| Burn-Mckeown Syndrome |
|
Ventricular septal defect, Atrial septal defect |
OMIM:608572 |
| Mosaic Trisomy 9 |
|
Patent ductus arteriosus, Polyhydramnios, Asplenia, Hydrops fetalis, Ventricular septal defect, A... |
ORPHA:99776 |
| Chops Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Aspiration pneumonia, Ventricular septal defect, ... |
OMIM:616368 |
| Primary Biliary Cholangitis |
|
Orthostatic hypotension, Ascites, Portal hypertension |
ORPHA:186 |
| Noonan Syndrome 2 |
|
Patent ductus arteriosus, Atrioventricular canal defect, Polyhydramnios, Ventricular septal defec... |
OMIM:605275 |
| Wilson Disease |
|
Pedal edema, Edema, Hepatomegaly, Ascites, Splenomegaly |
OMIM:277900 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Polyhydramnios, Hypoplasia of the thymus, Hematochezia, Ventricular septal defect |
OMIM:243150 |
| Periventricular Nodular Heterotopia 7 |
|
Ventricular septal defect |
OMIM:617201 |
| Hereditary Hemorrhagic Telangiectasia |
|
Pulmonary arterial hypertension, Pulmonary embolism, Mucosal telangiectasiae, Cerebral hemorrhage... |
ORPHA:774 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Respiratory insufficiency, Emphysema, Oligohydramnios, Cough, Anasarca, Respiratory failure, Asci... |
OMIM:613658 |
| Pentalogy Of Cantrell |
|
Abnormal pericardium morphology, Ventricular septal defect, Polysplenia, Atrial septal defect, Te... |
ORPHA:1335 |
| Trisomy 13 |
|
Patent ductus arteriosus, Hydrops fetalis, Ventricular septal defect, Atrial septal defect |
ORPHA:3378 |
| Emanuel Syndrome |
|
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect, Atrial septal defect, Ol... |
ORPHA:96170 |
| Brain-Lung-Thyroid Syndrome |
|
Pulmonary arterial hypertension, Patent foramen ovale, Ventricular septal defect, Abnormal cardia... |
ORPHA:209905 |
| Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Secundum atrial septal defect, Ventricular septal defect, Atrial septal defect, Perimembranous ve... |
OMIM:600987 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Patent foramen ovale, Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic v... |
ORPHA:477817 |
| Noonan Syndrome 3 |
|
Patent ductus arteriosus, Patent foramen ovale, Polyhydramnios, Ventricular septal defect, Mitral... |
OMIM:609942 |
| Somatostatinoma |
|
Abnormal abdomen morphology, Ascites, Gastrointestinal hemorrhage, Hepatomegaly |
ORPHA:97283 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Telangiectasia, Ventricular septal defect, Atrial... |
OMIM:612582 |
| Seckel Syndrome 9 |
|
Asthma, Polyhydramnios, Ventricular septal defect, Atrial septal defect |
OMIM:616777 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Patent foramen ovale, Abnormal heart morphology, Ventricular septal defect |
ORPHA:369891 |
| Lambotte Syndrome |
|
Ventricular septal defect |
OMIM:245552 |
| Costello Syndrome |
|
Polyhydramnios, Ventricular septal defect, Mitral valve prolapse, Hypertrophic cardiomyopathy, Pu... |
ORPHA:3071 |
| Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect |
ORPHA:2345 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory failure, Respiratory distress, Ventricular septal defect |
OMIM:617895 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Mitral valve pro... |
ORPHA:371428 |
| Carpenter Syndrome 1 |
|
Patent ductus arteriosus, Ventricular septal defect, Polysplenia, Atrial septal defect, Tetralogy... |
OMIM:201000 |
| Nephrotic Syndrome, Type 11 |
|
Dilated cardiomyopathy, Ventricular septal defect |
OMIM:616730 |
| Skraban-Deardorff Syndrome |
|
Ventricular septal defect |
OMIM:617616 |
| Joubert Syndrome 18 |
|
Ventricular septal defect |
OMIM:614815 |
| Niemann-Pick Disease Type C |
|
Respiratory insufficiency, Hydrops fetalis, Aspiration pneumonia, Hepatosplenomegaly, Fetal ascit... |
ORPHA:646 |
| Perlman Syndrome |
|
Polyhydramnios, Ascites, Edema, Visceromegaly |
OMIM:267000 |
| 19P13.12 Microdeletion Syndrome |
|
Ventricular septal defect, Atrial septal defect, Aortic regurgitation, Mitral regurgitation, Arrh... |
ORPHA:254346 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Ventricular septal defect |
OMIM:618504 |
| Sarcoidosis, Susceptibility To, 1 |
|
Pulmonary arterial hypertension, Bronchiectasis, Pericardial effusion, Hypoxemia, Generalized lym... |
OMIM:181000 |
| Short Stature And Facioauriculothoracic Malformations |
|
Ventricular septal defect |
OMIM:609654 |
| Cooper-Jabs Syndrome |
|
Respiratory insufficiency, Ventricular septal defect |
ORPHA:1488 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Pulmonary arterial hypertension, Recurrent pneumonia, Ventricular septal defect, Atrial septal de... |
OMIM:616449 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Double outlet right ventricle, Polyhydramnios, Ventricular septal defect, Abnormal left ventricul... |
OMIM:301056 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect |
ORPHA:3306 |
| Craniofacial Dyssynostosis With Short Stature |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:218350 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Retinal hemorrhage, Ventricular septal defect, Aspiration, Hypertension, Apnea, Stridor, Neonatal... |
OMIM:614653 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Ascites, Respiratory distress, Hepatomegaly |
OMIM:256810 |
| Diamond-Blackfan Anemia 7 |
|
Patent ductus arteriosus, Polyhydramnios, Ventricular septal defect, Secundum atrial septal defec... |
OMIM:612562 |
| Donnai-Barrow Syndrome |
|
Ventricular septal defect |
ORPHA:2143 |
| Mitchell-Riley Syndrome |
|
Ascites |
OMIM:615710 |
| Glucagonoma |
|
Abnormal abdomen morphology, Ascites, Gastrointestinal hemorrhage, Hepatomegaly |
ORPHA:97280 |
| Braddock-Carey Syndrome 1 |
|
Aortic valve prolapse, Ventricular septal defect |
OMIM:619980 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Hypoventilation, Hepatomegaly, Anasarca, Tracheomalacia, Ascites |
OMIM:203700 |
| Trisomy 1Q |
|
Patent ductus arteriosus, Polyhydramnios, Hydrops fetalis, Ventricular septal defect, Increased n... |
ORPHA:261344 |
| King-Denborough Syndrome |
|
Ventricular septal defect |
OMIM:619542 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Ventricular septal defect, Atrial septal defect |
ORPHA:75389 |
| Weiss-Kruszka Syndrome |
|
Dextrotransposition of the great arteries, Bicuspid aortic valve, Left ventricular hypertrophy, V... |
OMIM:618619 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Ischemic stroke, Spontaneous, recurrent epistaxis, Fingerpad telangiectases, Hematemesis, Reduced... |
OMIM:187300 |
| Contractural Arachnodactyly, Congenital |
|
Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve, Mitral valve prolapse... |
OMIM:121050 |
| Brachydactyly, Type B1 |
|
Ventricular septal defect |
OMIM:113000 |
| Pontocerebellar Hypoplasia, Type 8 |
|
Patent foramen ovale, Ventricular septal defect |
OMIM:614961 |
| Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Neonatal respiratory distress, Ventricular septal defect, Atrial septal defect, Patent ductus art... |
ORPHA:457193 |
| Chromosome 9P Deletion Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Perimembranous ventricular septal defect, He... |
OMIM:158170 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Ventricular septal defect |
OMIM:601357 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Patent ductus arteriosus, Hypertrophic cardiomyopathy, Ventricular septal defect |
OMIM:612938 |
| 15Q14 Microdeletion Syndrome |
|
Ventricular septal defect, Atrial septal defect |
ORPHA:261190 |
| Niemann-Pick Disease, Type C2 |
|
Respiratory insufficiency, Polyhydramnios, Fetal ascites, Hepatomegaly, Respiratory failure, Sple... |
OMIM:607625 |
| Chromosome 18Q Deletion Syndrome |
|
Patent ductus arteriosus, Absence of the pulmonary valve, Ventricular septal defect, Asthma, Dysp... |
OMIM:601808 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Right ventricular hypertrophy, Ventricular septal defect, Hepatomegaly |
OMIM:613404 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Apneic episodes in infancy, Ventricular septal defect |
ORPHA:3078 |
| Diamond-Blackfan Anemia 12 |
|
Ventricular septal defect |
OMIM:615550 |
| Congenital Tracheal Stenosis |
|
Patent ductus arteriosus, Polyhydramnios, Ventricular septal defect, Respiratory distress, Oligoh... |
ORPHA:141127 |
| Joubert Syndrome 14 |
|
Hypertension, Intracranial hemorrhage, Ventricular septal defect |
OMIM:614424 |
| Atresia Of Urethra |
|
Ascites, Pulmonary insufficiency, Oligohydramnios |
ORPHA:105 |
| Mgat2-Cdg |
|
Patent ductus arteriosus, Hydrops fetalis, Ventricular septal defect, Reflex asystolic syncope, A... |
ORPHA:79329 |
| Behçet Disease |
|
Endocarditis, Pulmonary embolism, Cerebral ischemia, Pericarditis, Myocardial infarction, Pleural... |
ORPHA:117 |
| Stankiewicz-Isidor Syndrome |
|
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect |
OMIM:617516 |
| Neurodevelopmental Disorder With Language Delay And Seizures |
|
Ventricular septal defect |
OMIM:619908 |
| 3P25.3 Microdeletion Syndrome |
|
Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Ventricular septal defect |
ORPHA:435638 |
| Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect |
OMIM:220500 |
| Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Polyhydramnios, Central sleep apnea, Ventricular septal defect, Atrial septal defect |
OMIM:617360 |
| Ogden Syndrome |
|
Cardiogenic shock, Ventricular septal defect, Arrhythmia |
ORPHA:276432 |
| Rere-Related Neurodevelopmental Syndrome |
|
Abnormal heart morphology, Ventricular septal defect |
ORPHA:494344 |
| Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Ventricular septal defect, Atrial septal defect |
OMIM:617452 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Patent ductus arteriosus, Ventricular septal defect, Asthma, Atrial septal defect, Central apnea,... |
ORPHA:79345 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Polyhydramnios, Ventricular septal defect |
OMIM:219730 |
| Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect |
OMIM:610338 |
| Spondylo-Ocular Syndrome |
|
Ventricular septal defect |
ORPHA:85194 |
| Syndromic Diarrhea |
|
Patent ductus arteriosus, Hypoplasia of the thymus, Ventricular septal defect, Bicuspid aortic va... |
ORPHA:84064 |
| Alagille Syndrome |
|
Ventricular septal defect, Hypertension, Atrial septal defect, Hepatomegaly, Telangiectasia of th... |
ORPHA:52 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
| Fanconi Anemia, Complementation Group I |
|
Patent foramen ovale, Ventricular septal defect, Atrial septal defect |
OMIM:609053 |
| Diabetic Embryopathy |
|
Tetralogy of Fallot, Transposition of the great arteries, Ventricular septal defect |
ORPHA:1926 |
| Aase-Smith Syndrome I |
|
Ventricular septal defect |
OMIM:147800 |
| Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Ventricular septal defect, Atrial septal defect |
ORPHA:505237 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
| Heart And Brain Malformation Syndrome |
|
Polyhydramnios, Ventricular septal defect |
OMIM:616920 |
| X-Linked Lissencephaly With Abnormal Genitalia |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:452 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect |
OMIM:617061 |
| Cat Eye Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Hypoplastic left heart... |
OMIM:115470 |
| Beaulieu-Boycott-Innes Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:613680 |
| Chromosome 15Q25 Deletion Syndrome |
|
Ventricular septal defect, Abnormal cardiac septum morphology, Coronary artery fistula, Polysplen... |
OMIM:614294 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Ventricular septal defect, Heart murmur |
ORPHA:166035 |
| Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Patent ductus arteriosus, Ventricular septal defect, Coronary artery fistula, Atrial septal defec... |
OMIM:620024 |
| Char Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:46627 |
| Cutis Laxa, Autosomal Dominant 1 |
|
Ventricular septal defect, Bronchiectasis, Congestive heart failure, Emphysema, Aortic regurgitat... |
OMIM:123700 |
| Pelger-Huet Anomaly |
|
Ventricular septal defect |
OMIM:169400 |
| Yuan-Harel-Lupski Syndrome |
|
Bicuspid aortic valve, Double outlet right ventricle, Sleep apnea, Ventricular septal defect |
OMIM:616652 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Abn... |
ORPHA:457279 |
| Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Anemia, Pancytopenia, Persistence of hemoglobin F, Thrombocytopenia, Neut... |
OMIM:260400 |
| Codas Syndrome |
|
Ventricular septal defect |
ORPHA:1458 |
| Kury-Isidor Syndrome |
|
Ventricular septal defect |
OMIM:619762 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Ventricular septal defect, Wolff-Parkinson-White syndrome, Hypertension, Ventricular septal hyper... |
OMIM:614947 |
| Meckel Syndrome, Type 4 |
|
Ventricular septal defect, Atrial septal defect |
OMIM:611134 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Abnormal heart morphology, Ventricular septal defect |
ORPHA:404440 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Ventricular septal defect, Heart murmur, Atrial septal defect, Hepatosplenomegaly, Aortic regurgi... |
OMIM:614866 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Hypoplastic tricuspid ... |
ORPHA:2255 |
| Kapur-Toriello Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
ORPHA:2328 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress, Atrial septal defect, Ventricular septal defect |
OMIM:610536 |
| Johnson Neuroectodermal Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:147770 |
| Renal Agenesis |
|
Oligohydramnios, Hypertension, Ventricular septal defect |
ORPHA:411709 |
| Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Oligohydramnios |
OMIM:620113 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Pulmonic stenosis, Ventricular septal defect |
OMIM:615508 |
| Feingold Syndrome 1 |
|
Patent ductus arteriosus, Polyhydramnios, Asplenia, Ventricular septal defect, Polysplenia, Acces... |
OMIM:164280 |
| Insulin-Like Growth Factor I, Resistance To |
|
Patent foramen ovale, Ventricular septal defect, Atrial septal defect |
OMIM:270450 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Situs inversus totalis, Tetralogy of Fallot, Ventricular septal defect |
ORPHA:1908 |
| Diamond-Blackfan Anemia 5 |
|
Ventricular septal defect |
OMIM:612528 |
| Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Dextrotransposition of the great arteries, Ventricular septal defect |
OMIM:619995 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Ventricular septal defect |
OMIM:616901 |
| Beck-Fahrner Syndrome |
|
Cardiomegaly, Ventricular septal defect |
OMIM:618798 |
| Mosaic Variegated Aneuploidy Syndrome 2 |
|
Subvalvular aortic stenosis, Ventricular septal defect, Atrial septal defect, Aortic regurgitatio... |
OMIM:614114 |
| Lissencephaly 9 With Complex Brainstem Malformation |
|
Ventricular septal defect |
OMIM:618325 |
| Sifrim-Hitz-Weiss Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect |
OMIM:617159 |
| Short Stature-Micrognathia Syndrome |
|
Obstructive sleep apnea, Ventricular septal defect |
OMIM:617164 |
| Thymoma |
|
Imbalanced hemoglobin synthesis, Aplastic anemia, Pure red cell aplasia, Leukemia |
ORPHA:99867 |
| Blackfan-Diamond Anemia |
|
Acute myeloid leukemia, Leukopenia, Reticulocytopenia, Pure red cell aplasia, Erythroid hypoplasi... |
ORPHA:124 |
| Acrocardiofacial Syndrome |
|
Truncus arteriosus, Ventricular septal defect, Mitral stenosis, Atrial septal defect, Tetralogy o... |
ORPHA:2008 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Atrioventricular canal defect, Ventricular septal defect, Bicuspid aortic valve, Atrial septal de... |
ORPHA:453499 |
| Alg9-Cdg |
|
Hydrops fetalis, Ventricular septal defect, Asthma, Pericardial effusion, Abnormal left ventricul... |
ORPHA:79328 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Patent ductus arteriosus, Patent foramen ovale, Truncus arteriosus, Ventricular septal defect, Pe... |
OMIM:600001 |
| Zellweger Syndrome |
|
Respiratory insufficiency, Ventricular septal defect, Hepatomegaly |
ORPHA:912 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Accessory spleen, Obstructive sleep apnea, Ventricular septal defect |
OMIM:619306 |
| Bohring-Opitz Syndrome |
|
Neonatal respiratory distress, Polyhydramnios, Ventricular septal defect, Atrial septal defect |
OMIM:605039 |
| Warsaw Breakage Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:613398 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Pulmonary arterial hypertension, Patent foramen ovale, Double outlet right ventricle, Patent duct... |
ORPHA:163956 |
| Adams-Oliver Syndrome 1 |
|
Pulmonary arterial hypertension, Ventricular septal defect, Bicuspid aortic valve, Hypertension, ... |
OMIM:100300 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Ventricular septal defect |
OMIM:620073 |
| Chronic Graft Versus Host Disease |
|
Pneumothorax, Bronchiectasis, Pleural effusion, Airway obstruction, Dyspnea, Cough, Xerostomia, A... |
ORPHA:99921 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Patent ductus arteriosus, Ventricular septal defect, Oligohydramnios, Hepatomegaly, Dehydration, ... |
ORPHA:96191 |
| Pseudotrisomy 13 Syndrome |
|
Ventricular septal defect, Atrial septal defect, Dextrocardia, Complete atrioventricular canal de... |
OMIM:264480 |
| Radio-Tartaglia Syndrome |
|
Ventricular septal defect |
OMIM:619312 |
| X Small Rings |
|
Mitral stenosis, Bicuspid aortic valve, Ventricular septal defect, Oligohydramnios |
ORPHA:96201 |
| Filippi Syndrome |
|
Ventricular septal defect |
ORPHA:3255 |
| Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Patent ductus arteriosus, Recurrent pneumonia, Ventricular septal defect, Recurrent aspiration pn... |
OMIM:300472 |
| Sotos Syndrome |
|
Patent ductus arteriosus, Muscular ventricular septal defect, Ventricular septal defect, Atrial s... |
OMIM:117550 |
| Ogden Syndrome |
|
Torsade de pointes, Secundum atrial septal defect, Premature atrial contractions, Patent foramen ... |
OMIM:300855 |
| Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Pulmonary arterial hypertension, Polyhydramnios, Ventricular septal defect, Aortopulmonary window... |
OMIM:620025 |
| Kapur-Toriello Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect |
OMIM:244300 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Polyhydramnios, Ventricular septal defect, Atrial septal defect |
OMIM:300998 |
| Kleefstra Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Dyspnea, Arrhythmia, Tracheomalacia, Tetralogy ... |
ORPHA:261494 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Patent ductus arteriosus, Patent foramen ovale, Polyhydramnios, Right bundle branch block, Ventri... |
OMIM:617506 |
| Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Ventricular septal defect |
ORPHA:1770 |
| Trichohepatoenteric Syndrome 1 |
|
Polyhydramnios, Splenomegaly, Ventricular septal defect, Aortic regurgitation, Hepatomegaly, Tetr... |
OMIM:222470 |
| X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
HbH hemoglobin |
ORPHA:423479 |
| Lead Poisoning |
|
Imbalanced hemoglobin synthesis, Abnormal T cell morphology, Anemia |
ORPHA:330015 |
| Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:52055 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Ventricular septal defect, Dysplastic pulmonary valve |
OMIM:619103 |
| Dehydrated Hereditary Stomatocytosis |
|
Edema, Splenomegaly, Pulmonary venous hypertension |
ORPHA:3202 |
| Dysosteosclerosis |
|
Ventricular septal defect |
ORPHA:1782 |
| 16Q24.3 Microdeletion Syndrome |
|
Mitral regurgitation, Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:261250 |
| Costello Syndrome |
|
Respiratory insufficiency, Polyhydramnios, Lymphangiectasis, Pneumothorax, Ventricular septal def... |
OMIM:218040 |
| Teebi Hypertelorism Syndrome 1 |
|
Ventricular septal defect, Atrial septal defect |
OMIM:145420 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Atrial septal defect, Ventricular septal defect, Repeated pneumothoraces |
OMIM:617602 |
| Trichohepatoneurodevelopmental Syndrome |
|
Patent ductus arteriosus, Polyhydramnios, Ventricular septal defect, Central sleep apnea, Hepatom... |
OMIM:618268 |
| Encephalocraniocutaneous Lipomatosis |
|
Subvalvular aortic stenosis, Ventricular septal defect, Atrial septal defect |
OMIM:613001 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Ventricular septal defect, Polysplenia, Lymphadenopathy, Accessory spleen, Hepatomegaly, Splenome... |
OMIM:619418 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:77298 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Respiratory insufficiency, Patent ductus arteriosus, Ventricular septal defect, Heart murmur, Int... |
ORPHA:163979 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Pulmonary arterial hypertension, Recurrent pneumonia, Ventricular septal defect, Atrial septal de... |
ORPHA:464738 |
| Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect,... |
OMIM:610759 |
| Phelan-Mcdermid Syndrome |
|
Patent ductus arteriosus, Palpebral edema, Ventricular septal defect, Lymphedema |
OMIM:606232 |
| 22Q11.2 Deletion Syndrome |
|
Patent ductus arteriosus, Polyhydramnios, Hypoplasia of the thymus, Ventricular septal defect, Tr... |
ORPHA:567 |
| Loeys-Dietz Syndrome 5 |
|
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Bruising susceptibility, M... |
OMIM:615582 |
| Phaver Syndrome |
|
Ventricular septal defect |
ORPHA:2876 |
| Orotic Aciduria |
|
Ventricular septal defect, Atrial septal defect |
OMIM:258900 |
| Weill-Marchesani Syndrome 1 |
|
Patent ductus arteriosus, Ventricular septal defect, Mitral regurgitation, Aortic valve stenosis,... |
OMIM:277600 |
| Hardikar Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Hypersplenism, Hyperte... |
OMIM:301068 |
| C Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Hepatomegaly |
OMIM:211750 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Ventricular septal defect, Atrial septal defect |
OMIM:309520 |
| Koolen-De Vries Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect,... |
OMIM:610443 |
| Tbck-Related Intellectual Disability Syndrome |
|
Respiratory insufficiency, Ventricular septal defect, Asthma, Oligohydramnios, Pulmonic stenosis |
ORPHA:488632 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:106260 |
| Fryns Syndrome |
|
Polyhydramnios, Ventricular septal defect, Polysplenia, Atrial septal defect, Chylothorax, Stillb... |
OMIM:229850 |
| Marshall-Smith Syndrome |
|
Pulmonary arterial hypertension, Patent ductus arteriosus, Aspiration pneumonia, Ventricular sept... |
OMIM:602535 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Polyhydramnios, Ventricular septal defect, Atrial septal defect, Aortic regurgitation, Hypertroph... |
OMIM:607721 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Polyhydramnios, Ventricular septal defect |
OMIM:615503 |
| Fanconi Anemia, Complementation Group N |
|
Ventricular septal defect |
OMIM:610832 |
| Lateral Meningocele Syndrome |
|
Patent ductus arteriosus, Bicuspid aortic valve, Obstructive sleep apnea, Ventricular septal defect |
OMIM:130720 |
| Ellis Van Creveld Syndrome |
|
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Emphysema, Dextro... |
ORPHA:289 |
| Maternal Phenylketonuria |
|
Double outlet right ventricle, Ventricular septal defect, Hypoplastic left heart, Abnormal heart ... |
ORPHA:2209 |
| 19Q13.11 Microdeletion Syndrome |
|
Ventricular septal defect |
ORPHA:217346 |
| Recombinant 8 Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect |
ORPHA:96167 |
| Holt-Oram Syndrome |
|
Patent ductus arteriosus, Secundum atrial septal defect, Hypoplastic left heart, Ventricular sept... |
OMIM:142900 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:847 |
| Distal Trisomy 5Q |
|
Dextrocardia, Ventricular septal defect |
ORPHA:96097 |
| 46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Ventricular septal defect, Oligohydramnios |
OMIM:611812 |
| Diamond-Blackfan Anemia 10 |
|
Patent ductus arteriosus, Respiratory distress, Ventricular septal defect |
OMIM:613309 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Pulmonary arterial hypertension, Patent foramen ovale, Patent ductus arteriosus, Ventricular sept... |
OMIM:618454 |
| Leigh Syndrome |
|
Ventricular septal defect, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal patter... |
ORPHA:506 |
| Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Sudden cardiac death, Pulmonary edema, Pericardial effusion, Dilated cardiomyopathy, Congestive h... |
ORPHA:73224 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Ventricular septal defect |
OMIM:234050 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio |
OMIM:301040 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Ventricular septal defect |
OMIM:612530 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Histiocytoid cardiomyopathy, Ventricular septal defect, Atrial septal defect, Junctional ectopic ... |
OMIM:309801 |
| Down Syndrome |
|
Patent ductus arteriosus, Atrioventricular canal defect, Double outlet right ventricle, Patent fo... |
OMIM:190685 |
| Esophageal Atresia |
|
Polyhydramnios, Ventricular septal defect, Aspiration, Respiratory distress, Chronic pulmonary ob... |
ORPHA:1199 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Pneumothorax, Pulmonary bleb, Repeated pneumothoraces, Hemothorax, Mitral valve prolapse, Pulmona... |
OMIM:130050 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Hypoplastic right hear... |
OMIM:616894 |
| Myhre Syndrome |
|
Respiratory insufficiency, Patent ductus arteriosus, Ventricular septal defect, Pericardial effus... |
OMIM:139210 |
| Fanconi Anemia, Complementation Group B |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:300514 |
| Mosaic Trisomy 1 |
|
Polyhydramnios, Increased nuchal translucency, Ventricular septal defect |
ORPHA:1692 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Neonatal respiratory distress, Ventricular septal defect, Hepatomegaly, Patent ductus arteriosus |
OMIM:214100 |
| Codas Syndrome |
|
Polyhydramnios, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect |
OMIM:600373 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Patent ductus arteriosus, Atrioventricular canal defect, Ventricular septal defect, Edema of the ... |
OMIM:274000 |
| Mckusick-Kaufman Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Hypoplastic left heart... |
ORPHA:2473 |
| Osteopathia Striata With Cranial Sclerosis |
|
Patent ductus arteriosus, Polyhydramnios, Ventricular septal defect, Atrial septal defect, Oligoh... |
OMIM:300373 |
| Thakker-Donnai Syndrome |
|
Tetralogy of Fallot, Transposition of the great arteries, Ventricular septal defect |
ORPHA:1780 |
| Kohlschutter-Tonz Syndrome-Like |
|
Ventricular septal defect, Oligohydramnios |
OMIM:619229 |
| Degcags Syndrome |
|
Pulmonary arterial hypertension, Patent ductus arteriosus, Patent foramen ovale, Rhinitis, Polyhy... |
OMIM:619488 |
| Opitz Gbbb Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Recurrent aspiration p... |
ORPHA:2745 |
| Distal Monosomy 19P13.3 |
|
Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse |
ORPHA:96129 |
| 16P13.11 Microdeletion Syndrome |
|
Ventricular septal defect, Atrial septal defect |
ORPHA:261236 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Pulmonary arterial hypertension, Patent foramen ovale, Patent ductus arteriosus, Aspiration pneum... |
ORPHA:444077 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Hydrops fetalis, Ventricular septal defect, Atrial septal defect, Tricuspid regurgitation |
OMIM:263520 |
| Simpson-Golabi-Behmel Syndrome |
|
Polyhydramnios, Ventricular septal defect, Bundle branch block, Polysplenia, Atrial septal defect... |
ORPHA:373 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Obstructive sleep apnea, Ventricular septal defect |
ORPHA:251028 |
| Donnai-Barrow Syndrome |
|
Ventricular septal defect |
OMIM:222448 |
| Mycophenolate Mofetil Embryopathy |
|
Tracheomalacia, Hydrops fetalis, Ventricular septal defect |
ORPHA:268249 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Patent ductus arteriosus, Polyhydramnios, Ventricular septal defect, Oligohydramnios, Aortic regu... |
ORPHA:464311 |
| Holoprosencephaly |
|
Respiratory insufficiency, Ventricular septal defect, Abnormal pulmonary valve morphology, Arrhyt... |
ORPHA:2162 |
| Tetraamelia Syndrome 2 |
|
Ventricular septal defect |
OMIM:618021 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Polyhydramnios, Hypoplasia of the thymus, Ventricular septal defect |
ORPHA:436252 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Ventricular septal defect |
OMIM:212066 |
| Kaufman Oculocerebrofacial Syndrome |
|
Neonatal respiratory distress, Ventricular septal defect, Atrial septal defect |
OMIM:244450 |
| Meier-Gorlin Syndrome 7 |
|
Ventricular septal defect, Atrial septal defect, Heart block, Complete atrioventricular canal def... |
OMIM:617063 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Pulmonary arterial hypertension, Ventricular hypertrophy, Ventricular septal defect, Mitral steno... |
OMIM:143095 |
| Lateral Meningocele Syndrome |
|
Ventricular septal defect |
ORPHA:2789 |
| Okamoto Syndrome |
|
Ventricular septal defect, Abnormal mitral valve morphology, Abnormal left ventricle morphology, ... |
ORPHA:2729 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
Aortic regurgitation, Truncus arteriosus, Atrial septal defect, Ventricular septal defect |
ORPHA:261330 |
| Weill-Marchesani Syndrome 2 |
|
Patent ductus arteriosus, Ventricular septal defect, Congestive heart failure, Mitral regurgitati... |
OMIM:608328 |
| Focal Dermal Hypoplasia |
|
Patent ductus arteriosus, Ventricular septal defect, Abnormal cardiac septum morphology, Telangie... |
ORPHA:2092 |
| 7Q11.23 Microduplication Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Tracheomalacia, Atrial septal defect, Aortic... |
ORPHA:96121 |
| Hand-Foot-Genital Syndrome |
|
Ventricular septal defect |
ORPHA:2438 |
| Chromosome 14Q11-Q22 Deletion Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect |
OMIM:613457 |
| Hydrolethalus Syndrome 1 |
|
Polyhydramnios, Ventricular septal defect, Complete atrioventricular canal defect, Accessory sple... |
OMIM:236680 |
| Rabson-Mendenhall Syndrome |
|
Ventricular septal defect, Atrial septal defect, Cardiomyopathy |
ORPHA:769 |
| Frank-Ter Haar Syndrome |
|
Patent foramen ovale, Double outlet right ventricle, Ventricular septal defect, Secundum atrial s... |
OMIM:249420 |
| Goldberg-Shprintzen Syndrome |
|
Aortic regurgitation, Ventricular septal defect |
OMIM:609460 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Atrioventricular canal defect, Truncus arteriosus, Ventricular septal defect, Perimembranous vent... |
ORPHA:508498 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, ... |
OMIM:300967 |
| Cerebellar-Facial-Dental Syndrome |
|
Abnormal T-wave, Mitral valve prolapse, Ventricular septal defect |
ORPHA:444072 |
| Ulnar-Mammary Syndrome |
|
Ventricular septal defect, Arrhythmia |
ORPHA:3138 |
| Opitz Gbbb Syndrome |
|
Ventricular septal defect, Aspiration |
OMIM:300000 |
| Pallister-Hall Syndrome |
|
Patent ductus arteriosus, Neonatal death, Ventricular septal defect |
OMIM:146510 |
| Noonan Syndrome 1 |
|
Patent ductus arteriosus, Ventricular septal defect, Lymphedema, Abnormal bleeding, Bruising susc... |
OMIM:163950 |
| 3Q29 Microduplication Syndrome |
|
Ventricular septal defect |
ORPHA:251038 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Hematochezia, Ventricular septal defect |
OMIM:619575 |
| Hajdu-Cheney Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Mitral stenosis, Hepatomegaly, Aortic valve ... |
ORPHA:955 |
| Trisomy 18 |
|
Ventricular septal defect, Atrial septal defect, Oligohydramnios |
ORPHA:3380 |
| Coffin-Siris Syndrome 4 |
|
Patent ductus arteriosus, Mitral atresia, Ventricular septal defect, Atrial septal defect, Pulmon... |
OMIM:614609 |
| Teebi-Shaltout Syndrome |
|
Aortic valve stenosis, Ventricular septal defect |
OMIM:272950 |
| Cohen Syndrome |
|
Mitral valve prolapse, Ventricular septal defect |
ORPHA:193 |
| 3Mc Syndrome 1 |
|
Patent ductus arteriosus, Conjunctival telangiectasia, Ventricular septal defect, Atrial septal d... |
OMIM:257920 |
| Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Abnormal cardiac ventricular function, Ventricula... |
ORPHA:466791 |
| Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Ventricular septal defect |
OMIM:617798 |
| Oculodentodigital Dysplasia |
|
Ventricular septal defect, Arrhythmia |
ORPHA:2710 |
| Cerebellofaciodental Syndrome |
|
Mitral valve prolapse, Ventricular septal defect |
OMIM:616202 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Oligohydramnios, Aortic regurgitation, Aorti... |
ORPHA:464306 |
| Coffin-Siris Syndrome |
|
Patent ductus arteriosus, Aspiration pneumonia, Ventricular septal defect, Atrial septal defect, ... |
ORPHA:1465 |
| Orofaciodigital Syndrome V |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:174300 |
| De Barsy Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Emphysema |
ORPHA:2962 |
| Trichothiodystrophy |
|
Bronchospasm, Ventricular septal defect, Cardiomyopathy |
ORPHA:33364 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Ventricular septal defect |
OMIM:178110 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Ventricular septal defect, Nocturnal hypoventilation, Bicuspid aortic valve, Atrial septal defect... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Ventricular septal defect, Nocturnal hypoventilation, Bicuspid aortic valve, Atrial septal defect... |
ORPHA:352665 |
| Mosaic Trisomy 16 |
|
Patent ductus arteriosus, Abnormal heart morphology, Ventricular septal defect, Atrial septal defect |
ORPHA:1708 |
| Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Hypoplastic left heart, Patent foramen ovale, Tetralogy of Fallot, Ventricular septal defect |
OMIM:618748 |
| Neu-Laxova Syndrome 1 |
|
Patent ductus arteriosus, Patent foramen ovale, Polyhydramnios, Ventricular septal defect, Stillb... |
OMIM:256520 |
| Yunis-Varon Syndrome |
|
Pulmonary arterial hypertension, Polyhydramnios, Hydrops fetalis, Ventricular septal defect, Hype... |
ORPHA:3472 |
| Duane-Radial Ray Syndrome |
|
Ventricular septal defect, Atrial septal defect |
OMIM:607323 |
| Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Ventricular septal defect |
OMIM:250410 |
| Fanconi Anemia, Complementation Group C |
|
Ventricular septal defect, Bruising susceptibility |
OMIM:227645 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Respiratory insufficiency, Patent foramen ovale, Ventricular septal defect, Hypertension, Atrial ... |
OMIM:210710 |
| Holoprosencephaly 13, X-Linked |
|
Patent ductus arteriosus, Patent foramen ovale, Double outlet right ventricle, Ventricular septal... |
OMIM:301043 |
| Arboleda-Tham Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Recurrent aspiration pneumonia, Secundum atr... |
OMIM:616268 |
| Rubinstein-Taybi Syndrome 1 |
|
Patent ductus arteriosus, Patent foramen ovale, Polyhydramnios, Ventricular septal defect, Perime... |
OMIM:180849 |
| Craniofacioskeletal Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect |
OMIM:300712 |
| 2Q31.1 Microdeletion Syndrome |
|
Ventricular septal defect, Atrial septal defect |
ORPHA:251014 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Tetralogy of Fallot, Transposition of the great arteries, Ventricular septal defect |
OMIM:280000 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Patent ductus arteriosus, Sleep apnea, Ventricular septal defect, Cerebral hemorrhage |
OMIM:616682 |
| Cerebrocostomandibular Syndrome |
|
Patent ductus arteriosus, Polyhydramnios, Ventricular septal defect, Atrial septal defect, Neonat... |
OMIM:117650 |
| Cerebrocostomandibular Syndrome |
|
Neonatal respiratory distress, Tracheomalacia, Ventricular septal defect |
ORPHA:1393 |
| Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Patent ductus arteriosus, Atrioventricular canal defect, Polyhydramnios, Ventricular septal defec... |
ORPHA:3047 |
| Specc1L-Related Hypertelorism Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Arrhythmia, Tetralogy ... |
ORPHA:1519 |
| Phace Association |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:606519 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Abnormal heart morphology... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Abnormal heart morphology... |
ORPHA:363958 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Hypoventilation, Aspiration pneumonia, Ventricula... |
ORPHA:438213 |
| Diamond-Blackfan Anemia 1 |
|
Ventricular septal defect, Congestive heart failure, Atrial septal defect, Tricuspid stenosis |
OMIM:105650 |
| Robinow Syndrome |
|
Pulmonary valve atresia, Ventricular septal defect, Atrial septal defect, Abnormal heart morpholo... |
ORPHA:97360 |
| Distal 22Q11.2 Microduplication Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Palpebral edema, Tricuspid valve prolapse, T... |
ORPHA:261337 |
| Autosomal Recessive Robinow Syndrome |
|
Ventricular septal defect, Atrial septal defect, Abnormal pulmonary valve morphology, Tetralogy o... |
ORPHA:1507 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Pulmonary arterial hypertension, Polyhydramnios, Ventricular septal defect, Atrial septal defect,... |
ORPHA:96334 |
| Cornelia De Lange Syndrome 1 |
|
Duplication of internal organs, Pneumonia, Ventricular septal defect |
OMIM:122470 |
| Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Patent foramen ovale, Ventricular septal defect, Mitral valve prolapse, Atrial septal defect, Hyp... |
ORPHA:363700 |
| Van Esch-O'Driscoll Syndrome |
|
Pulmonary valve atresia, Ventricular septal defect, Atrial septal defect |
OMIM:301030 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Subvalvular aortic stenosis, Double outlet right ventricle, Mitral atresia, Ischemic stroke, Vent... |
OMIM:619503 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Ventricular septal defect, Bleeding with minor or no trauma, Prolonged prothrombin time, Hepatome... |
OMIM:619525 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Patent ductus arteriosus, Patent foramen ovale, Sleep apnea, Ventricular septal defect |
OMIM:616975 |
| Keutel Syndrome |
|
Ventricular septal defect, Hypertension, Chronic sinusitis, Emphysema, Airway obstruction, Sinusi... |
OMIM:245150 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Ventricular septal defect, Oligohydramnios, Aortic regurgitation, Abnormal pulmonary valve morpho... |
ORPHA:268261 |
| 8Q24.3 Microdeletion Syndrome |
|
Patent ductus arteriosus, Atrioventricular canal defect, Ventricular septal defect, Truncus arter... |
ORPHA:508488 |
| Marden-Walker Syndrome |
|
Situs inversus totalis, Dextrocardia, Ventricular septal defect, Abnormal anatomic location of th... |
ORPHA:2461 |
| Smith-Lemli-Opitz Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Hypertension, Atrial septal defect, Hypertro... |
OMIM:270400 |
| Cardiospondylocarpofacial Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Dysplastic tricuspid valve... |
OMIM:157800 |
| Smith-Lemli-Opitz Syndrome |
|
Patent ductus arteriosus, Atrioventricular canal defect, Polyhydramnios, Ventricular septal defec... |
ORPHA:818 |
| Digeorge Syndrome |
|
Patent ductus arteriosus, Hypoplasia of the thymus, Truncus arteriosus, Ventricular septal defect... |
OMIM:188400 |
| Thauvin-Robinet-Faivre Syndrome |
|
Pedal edema, Mitral valve prolapse, Ventricular septal defect |
OMIM:617107 |
| Larsen Syndrome |
|
Tracheomalacia, Ventricular septal defect, Atrial septal defect |
OMIM:150250 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Patent ductus arteriosus, Ventricular septal defect, Asthma, Bicuspid aortic valve, Atrial septal... |
ORPHA:353281 |
| Velocardiofacial Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:192430 |
| Jacobsen Syndrome |
|
Ventricular septal defect, Atrial septal defect |
OMIM:147791 |
| Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:600460 |
| Apert Syndrome |
|
Overriding aorta, Ventricular septal defect |
OMIM:101200 |
| Chime Syndrome |
|
Pulmonary valve atresia, Tetralogy of Fallot, Transposition of the great arteries, Ventricular se... |
ORPHA:3474 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Patent ductus arteriosus, Polyhydramnios, Splenomegaly, Ventricular septal defect, Transposition ... |
OMIM:312870 |
| Mosaic Trisomy 20 |
|
Dysplastic tricuspid valve, Ventricular septal defect, Abnormal mitral valve morphology |
ORPHA:1724 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Bicuspid aortic valve, Mitral regurgitation, Ventricular septal defect, Atrial septal defect |
OMIM:271640 |
| Viss Syndrome |
|
Pulmonary arterial hypertension, Patent ductus arteriosus, Patent foramen ovale, Double outlet ri... |
OMIM:619472 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Ventricular septal defect, Ventricular septal hypertrophy, Oligohydramnios |
OMIM:608670 |
| Jacobsen Syndrome |
|
Hypoplastic left heart, Aortic valve stenosis, Ventricular septal defect |
ORPHA:2308 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Patent ductus arteriosus, Patent foramen ovale, Polyhydramnios, Ventricular septal defect, Aspira... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Patent ductus arteriosus, Patent foramen ovale, Polyhydramnios, Ventricular septal defect, Aspira... |
ORPHA:353277 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Tracheobronchomalacia, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect |
OMIM:613458 |
| Williams Syndrome |
|
Sudden cardiac death, Abnormal cardiac septum morphology, Supravalvular aortic stenosis, Hypertro... |
ORPHA:904 |
| Zttk Syndrome |
|
Aortic regurgitation, Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus |
OMIM:617140 |
| Microphthalmia, Syndromic 2 |
|
Patent ductus arteriosus, Double outlet right ventricle, Ventricular septal defect, Mitral valve ... |
OMIM:300166 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Ventricular septal defect, Heart murmur, Bicuspid aortic valve, Congestive heart failure, Abnorma... |
OMIM:619475 |
| Diets-Jongmans Syndrome |
|
Polyhydramnios, Ventricular septal defect |
OMIM:618846 |
| X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Polyhydramnios, Dilatation of the ventricular cavity, Ventricular septal defect, Atrial septal de... |
ORPHA:459070 |
| Alzahrani-Kuwahara Syndrome |
|
Patent foramen ovale, Coronary sinus enlargement, Ventricular septal defect, Atrial septal defect |
OMIM:619268 |
| Holoprosencephaly 14 |
|
Double outlet right ventricle, Aortic valve atresia, Ventricular septal defect |
OMIM:619895 |
| Charge Syndrome |
|
Patent ductus arteriosus, Double outlet right ventricle, Polyhydramnios, Ventricular septal defec... |
OMIM:214800 |
| Microphthalmia, Syndromic 3 |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:206900 |
| Limb Body Wall Complex |
|
Abnormal heart morphology, Ectopia cordis, Ventricular septal defect, Atrial septal defect |
ORPHA:2369 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Mitral valve prolapse, Abnormal right ventricle morphology, Ventricular septal defect |
ORPHA:500095 |
| Acrofacial Dysostosis 1, Nager Type |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:154400 |
| Hajdu-Cheney Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:102500 |
| Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Partial anomalous pulmonary venous return, Ventricular septal defect, Atrial septal defect |
OMIM:301044 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve,... |
OMIM:607872 |
| Catel-Manzke Syndrome |
|
Overriding aorta, Dextrocardia, Ventricular septal defect |
OMIM:616145 |
| Roberts-Sc Phocomelia Syndrome |
|
Patent ductus arteriosus, Polyhydramnios, Ventricular septal defect, Atrial septal defect, Access... |
OMIM:268300 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Ventricular septal defect |
ORPHA:1071 |
| Alagille Syndrome 1 |
|
Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect |
OMIM:118450 |
| Renpenning Syndrome 1 |
|
Situs inversus totalis, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect |
OMIM:309500 |
| Chromosome 13Q14 Deletion Syndrome |
|
Patent foramen ovale, Ventricular septal defect |
OMIM:613884 |
| Penile Agenesis |
|
Ventricular septal defect, Atrial septal defect, Oligohydramnios |
ORPHA:49 |
| Femoral-Facial Syndrome |
|
Pulmonic stenosis, Truncus arteriosus, Ventricular septal defect |
OMIM:134780 |
| Omodysplasia 1 |
|
Ventricular septal defect, Atrial septal defect |
OMIM:258315 |
| Wolf-Hirschhorn Syndrome |
|
Accessory spleen, Ventricular septal defect, Atrial septal defect |
OMIM:194190 |
| Williams-Beuren Syndrome |
|
Coronary artery stenosis, Ventricular septal defect, Bicuspid aortic valve, Mitral valve prolapse... |
OMIM:194050 |
| Johanson-Blizzard Syndrome |
|
Ventricular septal defect, Dilated cardiomyopathy, Atrial septal defect, Situs inversus totalis, ... |
OMIM:243800 |
| Multiple Osteochondromas |
|
Pneumothorax, Hemothorax |
ORPHA:321 |
| Early Infantile Epileptic Encephalopathy |
|
Ventricular septal defect |
ORPHA:1934 |
| Craniotubular Dysplasia, Ikegawa Type |
|
Ventricular septal defect |
OMIM:619727 |
| Orofaciodigital Syndrome Type 14 |
|
Patent ductus arteriosus, Sleep apnea, Ventricular septal defect |
ORPHA:434179 |
| Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Tracheomalacia, Ventricular septal defect |
ORPHA:513456 |
| Pallister-Hall Syndrome |
|
Respiratory insufficiency, Atrioventricular canal defect, Patent ductus arteriosus, Ventricular s... |
ORPHA:672 |
| Mowat-Wilson Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Abnormal heart morphol... |
OMIM:235730 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Ventricular septal defect |
OMIM:259770 |
| Coffin-Siris Syndrome 1 |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect |
OMIM:135900 |
| Peters-Plus Syndrome |
|
Patent ductus arteriosus, Polyhydramnios, Ventricular septal defect, Atrial septal defect, Pulmon... |
OMIM:261540 |
| Ulnar-Mammary Syndrome |
|
Ventricular septal defect, Arrhythmia |
OMIM:181450 |
| Orofaciodigital Syndrome Xiv |
|
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect |
OMIM:615948 |
| Yunis-Varon Syndrome |
|
Pulmonary arterial hypertension, Patent foramen ovale, Polyhydramnios, Hydrops fetalis, Aspiratio... |
OMIM:216340 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Patent ductus arteriosus, Obstructive sleep apnea, Ventricular septal defect, Atrial septal defect |
OMIM:619522 |
| Cornelia De Lange Syndrome |
|
Increased nuchal translucency, Ventricular septal defect, Atrial septal defect |
ORPHA:199 |
| Kabuki Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect, Recurrent aspiration pneumonia |
OMIM:147920 |
| Genitopatellar Syndrome |
|
Polyhydramnios, Ventricular septal defect, Atrial septal defect |
OMIM:606170 |
| Proboscis Lateralis |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:141099 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Patent ductus arteriosus, Asplenia, Ventricular septal defect, Bicuspid aortic valve, Hyphema, Ab... |
ORPHA:261552 |
| Pallister-Killian Syndrome |
|
Patent ductus arteriosus, Polyhydramnios, Ventricular septal defect, Apneic episodes in infancy, ... |
OMIM:601803 |
| Vater/Vacterl Association |
|
Patent ductus arteriosus, Tetralogy of Fallot, Transposition of the great arteries, Ventricular s... |
OMIM:192350 |
| Sotos Syndrome |
|
Patent ductus arteriosus, Pedal edema, Pulmonary bleb, Ventricular septal defect, Atrial septal d... |
ORPHA:821 |
| Townes-Brocks Syndrome 1 |
|
Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect |
OMIM:107480 |
| Craniofacial Microsomia |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:164210 |
