Pulmonary Atresia With Intact Ventricular Septum |
|
Pulmonary artery atresia, Hypoplastic right heart |
OMIM:265150 |
Heart Defects-Limb Shortening Syndrome |
|
Ventricular septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology,... |
ORPHA:1354 |
Congenital unilateral pulmonary hypoplasia |
|
Congenital diaphragmatic hernia, Abnormality of the pulmonary artery, Aplasia/Hypoplasia of the l... |
ORPHA:2258 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect, Pulmonary artery atresia |
OMIM:178370 |
Pulmonary Atresia-Intact Ventricular Septum Syndrome |
|
Abnormal tricuspid valve morphology, Pulmonary artery atresia |
ORPHA:1208 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Dextrocardia, Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mir... |
OMIM:606217 |
Pulmonary Hypertension, Primary, 1 |
|
Right ventricular failure, Pulmonary artery vasoconstriction, Telangiectasia, Hypertension, Right... |
OMIM:178600 |
Tricuspid Atresia |
|
Ventricular septal defect, Tricuspid atresia, Hypoplasia of right ventricle, Coarctation of aorta... |
ORPHA:1209 |
Cardiomyopathy, Dilated, 1S |
|
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular arrhythmia, Coarctation of aorta, Pulm... |
OMIM:613426 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Endocardial fibrosis, Ventricular arrhythmia, Left ventricular hypertroph... |
OMIM:601493 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Atrial fibrillation, Subvalvular aortic stenosis, Left ventricular hyp... |
OMIM:108900 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Abnormal aortic morphology, Ventricular septal defect, Congenital diaphragmatic hernia, Abnormali... |
ORPHA:1166 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Abnormal heart morphology, Emphysema, Congenital diaphragmatic hernia |
OMIM:614100 |
Cutis Laxa-Marfanoid Syndrome |
|
Congenital diaphragmatic hernia, Abnormal heart valve morphology, Emphysema, Flexion contracture |
ORPHA:171719 |
Cardiomyopathy, Dilated, 1R |
|
Dilated cardiomyopathy, Ventricular arrhythmia, Restrictive cardiomyopathy, Left ventricular hype... |
OMIM:613424 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Right ventricular dilatation, Skeletal muscle atrophy, Pneumonia, Right ventricular hypertrophy, ... |
OMIM:253700 |
Congenital Heart Defects, Multiple Types, 6 |
|
Complete atrioventricular canal defect, Ventricular septal defect, Double outlet right ventricle,... |
OMIM:613854 |
Left Ventricular Noncompaction 8 |
|
Dilated cardiomyopathy, Abnormal left ventricular function, Mitral regurgitation, Congestive hear... |
OMIM:615373 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction |
OMIM:615092 |
Supravalvular Aortic Stenosis |
|
Pulmonary artery stenosis, Supravalvular aortic stenosis, Peripheral arterial stenosis, Pulmonic ... |
OMIM:185500 |
Emphysema, Hereditary Pulmonary |
|
Emphysema, Chronic bronchitis |
OMIM:130700 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Endocardial fibrosis, Atrial fibrillation, Atrioventricular block, Endoca... |
OMIM:612158 |
Fadd-Related Immunodeficiency |
|
Ventricular septal defect, Pulmonary artery atresia |
ORPHA:306550 |
Klippel-Trénaunay Syndrome |
|
Abnormal tricuspid valve morphology, Gastrointestinal hemorrhage, Atrial septal defect, Abnormali... |
ORPHA:90308 |
Heterotaxy, Visceral, 8, Autosomal |
|
Ventricular septal defect, Double outlet right ventricle, Atrial situs ambiguous, Hypoplastic lef... |
OMIM:617205 |
Atrial Septal Defect, Sinus Venosus Type |
|
Left-to-right shunt, Right ventricular dilatation, Atrial fibrillation, Systolic heart murmur, Ca... |
ORPHA:99105 |
Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Atrial fibrillation, Mi... |
OMIM:604169 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Ventricular septal defect, Pulmonary artery atresia |
OMIM:613759 |
Ventricular Septal Defect 3 |
|
Pulmonary artery stenosis, Ventricular septal defect, Atrial septal defect |
OMIM:614432 |
Familial Isolated Restrictive Cardiomyopathy |
|
Hypertrophic cardiomyopathy, Left atrial enlargement, Syncope, Atrial fibrillation, Mitral regurg... |
ORPHA:75249 |
Congenital Heart Defects, Multiple Types, 7 |
|
Pulmonary artery atresia, Pulmonic stenosis, Right aortic arch, Aortopulmonary collateral arterie... |
OMIM:618780 |
Left Ventricular Noncompaction 10 |
|
Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:615396 |
Congenital Rubella Syndrome |
|
Ventricular septal defect, Atrial septal defect, Abnormality of the pulmonary artery |
ORPHA:290 |
Cardiomyopathy, Dilated, 1D |
|
Dilated cardiomyopathy, Atrial fibrillation, Left ventricular hypertrophy, Congestive heart failu... |
OMIM:601494 |
Dextrocardia |
|
Dextrocardia, Abnormal pulmonary situs morphology, Abnormal lung lobation, Situs inversus totalis... |
ORPHA:1666 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Ventricular septal defect, Tetralogy of Fallot, Peripheral pulmonary artery stenosis |
OMIM:617992 |
Familial Dilated Cardiomyopathy |
|
Right ventricular dilatation, Atrial fibrillation, Mitral regurgitation, Ventricular arrhythmia, ... |
ORPHA:217607 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Left-to-right shunt, Ventricular septal defect, Abnormal aortic arch morphology, Abnormal descend... |
ORPHA:99050 |
Scimitar Syndrome |
|
Left-to-right shunt, Truncus arteriosus, Mitral atresia, Single ventricle, Abnormal lung morpholo... |
ORPHA:185 |
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome |
|
Abnormality of the pulmonary artery |
ORPHA:1065 |
Bronchopulmonary Dysplasia |
|
Right ventricular failure, Right ventricular hypertrophy, Pulmonary sequestration, Abnormal lung ... |
ORPHA:70589 |
Right Atrial Isomerism |
|
Dextrocardia, Complete atrioventricular canal defect, Ventricular septal defect, Right atrial iso... |
OMIM:208530 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypertension, Intracranial hemorrhage, Mitral valve calcification, Mitral regurgitation, Ventricu... |
ORPHA:363618 |
Atrial Septal Defect, Ostium Primum Type |
|
Left atrial enlargement, Syncope, Third heart sound, Abnormally loud pulmonic component of the se... |
ORPHA:99106 |
Cardiomyopathy, Dilated, 2D |
|
Dilated cardiomyopathy, Reduced ejection fraction, Mitral regurgitation, Pulmonary arterial hyper... |
OMIM:619371 |
Atrial Septal Defect, Coronary Sinus Type |
|
Right ventricular failure, Syncope, Left-to-right shunt, Right ventricular dilatation, Pneumonia,... |
ORPHA:99104 |
Waardenburg Syndrome Type 2 |
|
Abnormality of the pulmonary artery |
ORPHA:895 |
Diabetic Embryopathy |
|
Ventricular septal defect, Aplasia/Hypoplasia of the abdominal wall musculature, Abnormal aortic ... |
ORPHA:1926 |
Atrial Standstill |
|
Syncope, Ventricular escape rhythm, Cardiac conduction abnormality, Abnormal P wave, Reduced ejec... |
ORPHA:1344 |
Coronary Arterial Fistula |
|
Bicuspid aortic valve, Bacterial endocarditis, Right ventricular dilatation, Syncope, Abnormal le... |
ORPHA:2041 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Syncope, Tricuspid stenosis, Mitral stenosis, Bicuspid pulmonary valve, Di... |
ORPHA:1686 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Premature ventricular contraction, Right ventricular dilatation, Ventricular tachycardia, Palpita... |
OMIM:618920 |
X-Linked Mandibulofacial Dysostosis |
|
Abnormality of the pulmonary artery, Pulmonic stenosis, Abnormal mitral valve morphology |
ORPHA:1131 |
Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Syncope, Right ventricular dilatation, Palpitations, Elevated jugular venous pressure, Pulmonary ... |
ORPHA:422 |
Heterotaxy, Visceral, 7, Autosomal |
|
Dextrocardia, Interrupted aortic arch, Hypoplasia of right ventricle, Abnormal aortic valve morph... |
OMIM:616749 |
Noonan Syndrome With Multiple Lentigines |
|
Hypertrophic cardiomyopathy, Aplasia/Hypoplasia of the abdominal wall musculature, Abnormal endoc... |
ORPHA:500 |
Atrial Septal Defect, Ostium Secundum Type |
|
Right ventricular failure, Syncope, Left-to-right shunt, ST segment depression, Transient ischemi... |
ORPHA:99103 |
Cirrhotic Cardiomyopathy |
|
Left atrial enlargement, Global systolic dysfunction, Reduced ejection fraction, Ventricular arrh... |
ORPHA:57777 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Abnormal cardiac ventricular function, Syncope, Paroxysmal atrial fibrillation, Atrial septal dil... |
ORPHA:1677 |
Idiopathic Bronchiectasis |
|
Bronchiectasis, Recurrent lower respiratory tract infections, Myocardial infarction, Respiratory ... |
ORPHA:60033 |
Congenital Tricuspid Valve Dysplasia |
|
Pericardial effusion, Systolic heart murmur, Right ventricular hypertrophy, Cardiomegaly, Tricusp... |
ORPHA:555874 |
Hadziselimovic Syndrome |
|
Ventricular septal defect, Ventricular hypertrophy, Atrial septal defect, Tetralogy of Fallot, Pu... |
OMIM:612946 |
Congenital Lobar Emphysema |
|
Emphysema |
ORPHA:1928 |
Congenital Gerbode Defect |
|
Right ventricular failure, Constrictive pericarditis, Ventricular septal defect, Bacterial endoca... |
ORPHA:99095 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Third degree atrioventricular block, Cardiac conduction abnormality, Single ventricle, Double out... |
ORPHA:216694 |
Duodenal Atresia |
|
Abnormality of the pulmonary artery |
ORPHA:1203 |
Sarcoidosis, Susceptibility To, 2 |
|
Bronchiectasis, Pneumothorax, Pulmonary arterial hypertension, Facial palsy, Elevated bronchoalve... |
OMIM:612387 |
Isolated Right Ventricular Hypoplasia |
|
Right ventricular failure, Systolic heart murmur, Right bundle branch block, Cardiomegaly, Tricus... |
ORPHA:439 |
Cutis Laxa, Autosomal Dominant 1 |
|
Aortic regurgitation, Emphysema, Mitral regurgitation |
OMIM:123700 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Ventricular septal defect, Coarctation of aorta, Patent foramen ovale, Anomalous origin of right ... |
OMIM:610338 |
Atrial Septal Defect 8 |
|
Atrial septal defect, Anomalous pulmonary venous return |
OMIM:614433 |
Peripartum Cardiomyopathy |
|
Dilated cardiomyopathy, Myocarditis, Left atrial enlargement, Right ventricular failure, Abnormal... |
ORPHA:563 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Dilated cardiomyopathy, Left atrial enlargement, Hypertrophic cardiomyopathy, Left ventricular no... |
OMIM:619424 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Interstitial pneumonitis, Right ventricular hypertrophy, Spontaneous neonatal pneumothorax, Pulmo... |
ORPHA:217563 |
Alpha-1-Antitrypsin Deficiency |
|
Chronic bronchitis, Panacinar emphysema |
OMIM:613490 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Truncus arteriosus, Abnormal heart morphology, Atrial septal defect, P... |
ORPHA:401935 |
Truncus Arteriosus |
|
Truncus arteriosus, Pulmonary edema, Pulmonary artery stenosis, Interrupted aortic arch, Ventricu... |
ORPHA:3384 |
Pagod Syndrome |
|
Abnormal aortic morphology, Congenital diaphragmatic hernia, Situs inversus totalis, Pulmonary ar... |
ORPHA:991 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Ventricular septal defect, Double outlet right ventricle, Atrial septal defect, Tetralogy of Fall... |
OMIM:618316 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Hypertrophic cardiomyopathy, Left ventricular noncompaction |
OMIM:617228 |
Sick Sinus Syndrome 2 |
|
Sinus bradycardia, Mitral valve prolapse, Atrial fibrillation, Aortic regurgitation, Left ventric... |
OMIM:163800 |
Birt-Hogg-Dubé Syndrome |
|
Pneumothorax, Pulmonary sequestration, Emphysema |
ORPHA:122 |
Microphthalmia, Syndromic 9 |
|
Ventricular septal defect, Hypoplastic left atrium, Truncus arteriosus, Congenital diaphragmatic ... |
OMIM:601186 |
Allergic Bronchopulmonary Aspergillosis |
|
Emphysema, Pulmonary arterial hypertension, Bronchiectasis |
ORPHA:1164 |
Double Outlet Right Ventricle |
|
Ventricular septal defect, Truncus arteriosus, Double outlet right ventricle, Coarctation of aort... |
ORPHA:3426 |
Primary Pulmonary Hypoplasia |
|
Dextrocardia, Abnormal hemidiaphragm morphology, Pneumothorax, Recurrent respiratory infections, ... |
ORPHA:2257 |
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
|
Portal hypertension, Emphysema |
OMIM:210050 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Dilated cardiomyopathy, Mitral regurgitation, Left ventricular systolic dysfunction, Tricuspid re... |
OMIM:619167 |
Bare Lymphocyte Syndrome, Type I |
|
Bronchiolitis, Emphysema, Recurrent bronchitis, Bronchiectasis |
OMIM:604571 |
Alpha-1-Antitrypsin Deficiency |
|
Emphysema |
ORPHA:60 |
Tempi Syndrome |
|
Abnormality of the pulmonary vasculature, Telangiectasia, Intracranial hemorrhage, Transudative p... |
ORPHA:284227 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal mitochondria in muscle tissue, Ragg... |
OMIM:252011 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Honeycomb lung, Chronic bronchitis, Bronchiectasis, Hypersensitivity pneumonitis, Respiratory tra... |
ORPHA:79127 |
Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Emphysema |
OMIM:618307 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Dilated cardiomyopathy, Pulmonary insufficiency, Mitral regurgitation, Double outlet right ventri... |
ORPHA:2326 |
Fanconi Renotubular Syndrome 5 |
|
Hypertension, Emphysema, Pulmonary fibrosis, Lung adenocarcinoma |
OMIM:618913 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Pulmonary hypoplasia, Pneumonia, Bronchiectasis, Abnormal heart morpho... |
ORPHA:95430 |
Naxos Disease |
|
Dilated cardiomyopathy, Syncope, Paroxysmal ventricular tachycardia, Premature ventricular contra... |
OMIM:601214 |
Scleromyxedema |
|
Myopathy, Abnormal skeletal muscle morphology, Raynaud phenomenon, Transient ischemic attack, Abn... |
ORPHA:167635 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Hypertrophic cardiomyopathy, Reduced ejection fraction, Aortic regurgitation, Tricuspid regurgita... |
OMIM:616501 |
Phaver Syndrome |
|
Ventricular septal defect, Coarctation of aorta, Camptodactyly of finger, Pulmonary artery atresi... |
ORPHA:2876 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Ascending tubular aorta aneurysm, Supravalvular aortic stenosis, Congenital diaphragmatic hernia,... |
OMIM:219100 |
Heterotaxy, Visceral, 5, Autosomal |
|
Dextrocardia, Ventricular septal defect, Ascending tubular aorta aneurysm, Right atrial isomerism... |
OMIM:270100 |
Seckel Syndrome 9 |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Pulmonary artery hypoplasia, Atrial s... |
OMIM:616777 |
Adams-Oliver Syndrome 5 |
|
Right ventricular hypertrophy, Pulmonary arterial hypertension, Pulmonic stenosis, Right atrial e... |
OMIM:616028 |
Homozygous Familial Hypercholesterolemia |
|
Cerebral artery atherosclerosis, Hypertension, Myocardial steatosis, Sudden cardiac death, Abnorm... |
ORPHA:391665 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Dysplastic tricuspid valve, Misalignment of the pulmonary veins, Diastasis... |
OMIM:265380 |
Hypocomplementemic Urticarial Vasculitis |
|
Pericardial effusion, Abnormal heart valve morphology, Small vessel vasculitis, Emphysema, Pleura... |
ORPHA:36412 |
Loeys-Dietz Syndrome 4 |
|
Bicuspid aortic valve, Aortic dissection, Ascending tubular aorta aneurysm, Mitral valve prolapse... |
OMIM:614816 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Crazy paving pattern, Honeycomb lung, Absent bronchoalveolar surfactant-protein C, Desquamative i... |
OMIM:610921 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Pulmonary artery stenosis, Bilateral ... |
OMIM:611812 |
Aminopterin/Methotrexate Embryofetopathy |
|
Situs inversus totalis, Ventricular septal defect, Tetralogy of Fallot, Pulmonary artery atresia |
ORPHA:1908 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Abnormal cardiac ventricular function, Peripheral pulmonary artery stenosis, Supravalvular aortic... |
ORPHA:90349 |
Immunodeficiency 89 And Autoimmunity |
|
Pleural thickening, Pulmonary bulla, Recurrent lower respiratory tract infections, Bronchiectasis |
OMIM:619632 |
Hypophosphatasia |
|
Emphysema |
ORPHA:436 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent bronchopulmonary infections, Emphysema, Recurrent pneumonia, Bronchiectasis |
OMIM:242700 |
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Myopathy, Right ventricular dilatation, Limb-girdle muscular dystrophy |
ORPHA:369847 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Right ventricular failure, Mitral atresia, Single ventricle, Low-output congestive heart failure,... |
ORPHA:99125 |
Adams-Oliver Syndrome |
|
Pulmonary arterial hypertension, Gastrointestinal hemorrhage, Tetralogy of Fallot, Abnormal pulmo... |
ORPHA:974 |
Velocardiofacial Syndrome |
|
Interrupted aortic arch, Ventricular septal defect, Unilateral primary pulmonary dysgenesis, Righ... |
OMIM:192430 |
Keutel Syndrome |
|
Hypertension, Ventricular septal defect, Peripheral pulmonary artery stenosis, Recurrent bronchit... |
OMIM:245150 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Ventricular septal defect, Double outlet right ventricle, Arthrogryposis multiplex congenita, Pul... |
OMIM:301056 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Restrictive cardiomyopathy, Right atrial enlargement, Pericardial effusion, Endocardial fibroelas... |
OMIM:619313 |
Atypical Werner Syndrome |
|
Hypertension, Neoplasm of the lung, Skeletal muscle atrophy, Mitral valve prolapse, Aortic valve ... |
ORPHA:79474 |
Neonatal Marfan Syndrome |
|
Abnormal cardiac ventricle morphology, Ascending tubular aorta aneurysm, Abnormal echocardiogram,... |
ORPHA:284979 |
Congenital Tracheal Stenosis |
|
Ventricular septal defect, Abnormal lung lobation, Preductal coarctation of the aorta, Hypoplasti... |
ORPHA:141127 |
Lymphedema-Distichiasis Syndrome |
|
Abnormality of the pulmonary vasculature, Arrhythmia |
ORPHA:33001 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Telangiectasia, Aortic dissection, Mitral valve prolapse, Mitral regurgitation, Epistaxis, Pulmon... |
OMIM:175050 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Pulmonary artery stenosis, Emphysema, Patent foramen ovale, Pulmonary hypoplasia |
OMIM:613177 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Right ventricular failure, Syncope, Right ventricular dilatation, Abnormal T-wave, Palpitations, ... |
ORPHA:70591 |
Focal Dermal Hypoplasia |
|
Ventricular septal defect, Aplasia/Hypoplasia of the lungs, Abnormality of the pulmonary vasculat... |
ORPHA:2092 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Right ventricular dilatation, Mitral valve prolapse, Dysplastic tricuspid valve, Tricuspid regurg... |
OMIM:612863 |
Fabry Disease |
|
Hypertrophic cardiomyopathy, Hypertension, Abnormal endocardium morphology, Mitral regurgitation,... |
ORPHA:324 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Ventricular septal defect, Coarctation of aorta, Tetralogy of Fallot, Absent pulmonary artery |
OMIM:600460 |
Tropical Endomyocardial Fibrosis |
|
Left atrial enlargement, Abnormal EKG, Abnormal P wave, Reduced ejection fraction, Mitral regurgi... |
ORPHA:75565 |
Mosaic Trisomy 1 |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Coarctation of aorta, Camptodactyly o... |
ORPHA:1692 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Pulmonary insufficiency, Pulmonary artery aneurysm, Pulmonary artery dilatation, Congenital diaph... |
OMIM:614437 |
Heart Block, Congenital |
|
Myocardial calcification, Mitral regurgitation, Atrioventricular block, Cardiomyopathy, Absent at... |
OMIM:234700 |
Ellis Van Creveld Syndrome |
|
Dextrocardia, Ventricular septal defect, Aplasia/Hypoplasia of the lungs, Atrioventricular canal ... |
ORPHA:289 |
Hughes-Stovin Syndrome |
|
Pulmonary artery aneurysm, Pulmonary arterial hypertension, Vasculitis, Pulmonary embolism, Arter... |
ORPHA:228116 |
Marfan Syndrome |
|
Decreased muscle mass, Bicuspid aortic valve, Aortic dissection, Mitral valve prolapse, Pulmonary... |
OMIM:154700 |
Stuve-Wiedemann Syndrome 1 |
|
Flexion contracture of toe, Pulmonary arterial medial hypertrophy, Pulmonary arterial hypertensio... |
OMIM:601559 |
Peters Plus Syndrome |
|
Bicuspid pulmonary valve, Pulmonic stenosis, Abnormal pulmonary vein morphology, Hypoplastic left... |
ORPHA:709 |
Common Variable Immunodeficiency |
|
Pneumonia, Recurrent bronchitis, Bronchiectasis, Vasculitis, Recurrent respiratory infections, Em... |
ORPHA:1572 |
Alg9-Cdg |
|
Ventricular septal defect, Right ventricular dilatation, Pericardial effusion, Abnormal lung loba... |
ORPHA:79328 |
Lymphangioleiomyomatosis |
|
Chylopericardium, Pneumothorax, Pulmonary lymphangiomyomatosis, Gastrointestinal hemorrhage, Recu... |
ORPHA:538 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Interrupted aortic arch, Ventricular septal defect, Truncus arteriosus, Congenital diaphragmatic ... |
OMIM:600001 |
Meester-Loeys Syndrome |
|
Pulmonary artery aneurysm, Aortic dissection, Mitral regurgitation, Flexion contracture, Camptoda... |
OMIM:300989 |
Marfan Syndrome |
|
Ascending tubular aorta aneurysm, Pulmonary artery dilatation, Mitral valve prolapse, Skeletal mu... |
ORPHA:558 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Ventricular septal defect, Tricuspid regurgitation, Hypoplastic right heart, Camptodactyly, Paten... |
OMIM:616894 |
Netherton Syndrome |
|
Recurrent respiratory infections, Emphysema |
ORPHA:634 |
Nestor-Guillermo Progeria Syndrome |
|
Left atrial enlargement, Hypertension, Mitral regurgitation, Pulmonary arterial hypertension, Rig... |
OMIM:614008 |
Autosomal Dominant Cutis Laxa |
|
Peripheral pulmonary artery stenosis, Bronchiectasis, Mitral regurgitation, Aortic regurgitation,... |
ORPHA:90348 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Mitral valve prolapse, Pneumothorax, Pulmonary bleb, Arterial rupture, Pulmonary bulla, Recurrent... |
OMIM:130050 |
Meier-Gorlin Syndrome 4 |
|
Emphysema |
OMIM:613804 |
Sarcoidosis, Susceptibility To, 1 |
|
Pericardial effusion, Bronchiectasis, Pulmonary arterial hypertension, Elevated bronchoalveolar l... |
OMIM:181000 |
Nocardiosis |
|
Pericarditis, Pneumonia, Endocarditis, Pneumothorax, Pleuritis, Abnormal heart valve morphology, ... |
ORPHA:31204 |
Pauci-Immune Glomerulonephritis |
|
Abnormality of the pulmonary vasculature, Small vessel vasculitis, Arteritis, Pulmonary hemorrhage |
ORPHA:93126 |
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation |
|
Cor pulmonale, Recurrent bronchopulmonary infections, Emphysema, Recurrent pneumonia |
OMIM:219721 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Cerebral hemorrhage, Ischemic stroke, Conjunctival telangiectasia, Spontaneous, recurrent epistax... |
OMIM:610655 |
Unilateral Polymicrogyria |
|
Abnormal heart morphology, Epistaxis, Pulmonary arteriovenous malformation |
ORPHA:268943 |
Loeys-Dietz Syndrome 1 |
|
Bicuspid aortic valve, Pulmonary artery aneurysm, Descending thoracic aorta aneurysm, Mitral valv... |
OMIM:609192 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bicuspid aortic valve, Abnormal heart morphology, Coarctation of aorta, Pulmonic stenosis, Abnorm... |
ORPHA:261537 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bicuspid aortic valve, Ventricular septal defect, Hyphema, Abnormal heart morphology, Coarctation... |
ORPHA:261552 |
Tetraamelia Syndrome 1 |
|
Pulmonary hypoplasia, Peripheral pulmonary vessel aplasia, Abnormality of the diaphragm |
OMIM:273395 |
Loeys-Dietz Syndrome 2 |
|
Bicuspid aortic valve, Pulmonary artery aneurysm, Descending thoracic aorta aneurysm, Mitral valv... |
OMIM:610168 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Cerebral hemorrhage, Hypertension, Fingerpad telangiectases, Lip telangiectasia, Ischemic stroke,... |
OMIM:600376 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Left-to-right shunt, Common atrium, Recurrent respiratory infections, Portal hypertension, Dextro... |
OMIM:619534 |
Viss Syndrome |
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Pulmonary artery aneurysm, Ventricular septal defect, Right ventricular dilatation, Mitral valve ... |
OMIM:619472 |
Hyperlysinemia |
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Pulmonary artery hypoplasia, Recurrent pneumonia |
ORPHA:2203 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
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Spontaneous, recurrent epistaxis, Pulmonary arteriovenous malformation, Melena, Transient ischemi... |
OMIM:187300 |
Meier-Gorlin Syndrome 6 |
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Recurrent respiratory infections, Emphysema |
OMIM:616835 |
Sarcoidosis |
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Abnormal cardiac ventricular function, Portal hypertension, Bronchiectasis, Ventricular tachycard... |
ORPHA:797 |
Visceral Steatosis, Congenital |
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Myocardial steatosis |
OMIM:228100 |
Charge Syndrome |
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Ventricular septal defect, Dysplastic tricuspid valve, Double outlet right ventricle, Facial pals... |
OMIM:214800 |
Non-Specific Syndromic Intellectual Disability |
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Aortic root aneurysm, Pulmonary artery dilatation |
ORPHA:528084 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Abnormal heart morphology, Unilateral lung agenesis, Atrial septal defect, Transient ischemic att... |
ORPHA:500150 |
Osteogenesis Imperfecta, Type Vii |
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Hypoplastic pulmonary veins, Absent pulmonary artery |
OMIM:610682 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
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Portal hypertension, Abnormal pulmonary interstitial morphology, Emphysema |
OMIM:613658 |
Juvenile Polyposis Syndrome |
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Epistaxis, Spontaneous, recurrent epistaxis, Pulmonary arterial hypertension, Extrahepatic portal... |
ORPHA:2929 |