Pulmonary Atresia With Intact Ventricular Septum |
|
Pulmonary artery atresia, Hypoplastic right heart |
OMIM:265150 |
Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Ventricular septal defect, Abnormal tricuspid valve morphology, Abnormal mi... |
ORPHA:1354 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
Pulmonary Atresia-Intact Ventricular Septum Syndrome |
|
Pulmonary artery atresia, Abnormal tricuspid valve morphology |
ORPHA:1208 |
Cardiomyopathy, Dilated, 1R |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:613424 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... |
OMIM:606217 |
Tricuspid Atresia |
|
Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Transposition of ... |
ORPHA:1209 |
Pulmonary Hypertension, Primary, 1 |
|
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... |
OMIM:178600 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... |
OMIM:108900 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Abnormal aortic morphology, Tetralogy... |
ORPHA:1166 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Pneumonia, Flexion contracture, Right ven... |
OMIM:253700 |
Left Ventricular Noncompaction 10 |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:615396 |
Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... |
OMIM:615373 |
Cardiomyopathy, Dilated, 1Gg |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... |
OMIM:613642 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... |
OMIM:612158 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... |
OMIM:613854 |
Bronchopulmonary Dysplasia |
|
Right ventricular failure, Atelectasis, Abnormal lung morphology, Pulmonary sequestration, Emphys... |
ORPHA:70589 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
Supravalvular Aortic Stenosis |
|
Pulmonary artery stenosis, Peripheral arterial stenosis, Pulmonic stenosis, Supravalvular aortic ... |
OMIM:185500 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Skeletal muscle atrophy, Axial muscle atrophy, Limb-girdle muscle weakness, Achilles tendon contr... |
ORPHA:254361 |
Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Bronchiectasis |
OMIM:253240 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... |
OMIM:618780 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Emphysema, Congenital diaphragmatic hernia, Abnormal heart morphology |
OMIM:614100 |
Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Ventricular septal defect |
ORPHA:306550 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... |
OMIM:604169 |
Cutis Laxa-Marfanoid Syndrome |
|
Emphysema, Flexion contracture, Abnormal heart valve morphology, Congenital diaphragmatic hernia |
ORPHA:171719 |
Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:613759 |
Atrial Septal Defect, Sinus Venosus Type |
|
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... |
ORPHA:99105 |
Ventricular Septal Defect 3 |
|
Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect |
OMIM:614432 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Pulmonary embolism, Congestive heart failure, Abnormal tricuspid val... |
ORPHA:90308 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
First degree atrioventricular block, Cardiomegaly, Right atrial enlargement, Atrioventricular blo... |
OMIM:115197 |
Familial Isolated Restrictive Cardiomyopathy |
|
Recurrent respiratory infections, Atrial fibrillation, Tricuspid regurgitation, Left atrial enlar... |
ORPHA:75249 |
Emphysema, Hereditary Pulmonary |
|
Emphysema, Chronic bronchitis |
OMIM:130700 |
Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Bronchiectasis |
OMIM:615872 |
Cardiac Valvular Dysplasia 2 |
|
Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, B... |
OMIM:620067 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Myocardial sarcomeric disarray, Abnormal ST segment, Aortic aneurysm, Reduced left ventricular ej... |
OMIM:612422 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Atelectasis, Recurrent bronchitis |
OMIM:300455 |
Scimitar Syndrome |
|
Heart block, Abnormal lung morphology, Hypoplasia of the diaphragm, Pulmonary artery hypoplasia, ... |
ORPHA:185 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:617992 |
Dextrocardia |
|
Abnormal EKG, Dextrocardia, Situs inversus totalis, Abnormal lung lobation, Abnormal heart morpho... |
ORPHA:1666 |
Congenital Rubella Syndrome |
|
Atrial septal defect, Abnormality of the pulmonary artery, Ventricular septal defect |
ORPHA:290 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Recurrent respiratory infections, Left-to-right shunt, Ventricular septal defect, Congestive hear... |
ORPHA:99050 |
Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement,... |
OMIM:614022 |
Cardiomyopathy, Dilated, 2D |
|
Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def... |
OMIM:619371 |
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome |
|
Abnormality of the pulmonary artery |
ORPHA:1065 |
Atrial Standstill |
|
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... |
ORPHA:1344 |
Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... |
OMIM:208530 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Recurrent respiratory infections, Atelectasis, Bronchiectasis |
OMIM:619466 |
Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Recurrent lower respiratory tract infections, R... |
OMIM:616726 |
Atrial Septal Defect, Ostium Primum Type |
|
First degree atrioventricular block, Atrioventricular block, Right ventricular dilatation, Fixed ... |
ORPHA:99106 |
Ciliary Dyskinesia, Primary, 21 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis |
OMIM:615294 |
Diabetic Embryopathy |
|
Ventricular septal defect, Aplasia/Hypoplasia of the abdominal wall musculature, Abnormal aortic ... |
ORPHA:1926 |
Waardenburg Syndrome Type 2 |
|
Abnormality of the pulmonary artery |
ORPHA:895 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Emphysema, Intracr... |
ORPHA:363618 |
Atrial Septal Defect, Coronary Sinus Type |
|
Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo... |
ORPHA:99104 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Coronary artery calcification, Cong... |
OMIM:614473 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr... |
OMIM:618920 |
Asbestos Intoxication |
|
Right ventricular failure, Atelectasis, Pleural thickening, Cor pulmonale, Myocardial fibrosis, A... |
ORPHA:2302 |
Coronary Arterial Fistula |
|
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Bicuspid aortic valve, T... |
ORPHA:2041 |
Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... |
OMIM:617205 |
Bronchogenic Cyst |
|
Pulmonary cyst, Pneumonia, Abnormal pericardium morphology, Abnormal pleura morphology, Atelectas... |
ORPHA:2357 |
X-Linked Mandibulofacial Dysostosis |
|
Abnormal mitral valve morphology, Abnormality of the pulmonary artery, Pulmonic stenosis |
ORPHA:1131 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... |
ORPHA:1686 |
Cirrhotic Cardiomyopathy |
|
Prolonged QT interval, Elevated jugular venous pressure, Pulmonary edema, Left atrial enlargement... |
ORPHA:57777 |
Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
Heterotaxy, Visceral, 7, Autosomal |
|
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... |
OMIM:616749 |
Congenital Heart Defects, Multiple Types, 9 |
|
Mitral atresia, Aortopulmonary collateral arteries, Double outlet right ventricle, Single ventric... |
OMIM:620294 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Bradycardia, Hy... |
ORPHA:70587 |
Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Tricuspid regurgitation, Abnormal cardiovascular system physiology, Heart murmur, Right ventricul... |
ORPHA:422 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per... |
OMIM:617047 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
Noonan Syndrome With Multiple Lentigines |
|
Abnormal endocardium morphology, Bundle branch block, Scapular winging, Abnormal pulmonary valve ... |
ORPHA:500 |
Congenital Gerbode Defect |
|
Elevated right atrial pressure, Tricuspid regurgitation, Ventricular septal defect, Left-to-right... |
ORPHA:99095 |
Acute Interstitial Pneumonia |
|
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Pericardial effus... |
ORPHA:79126 |
Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Pu... |
OMIM:612946 |
Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Right ventricular dilatation, Abnormal ... |
ORPHA:99103 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid regurgitation, A... |
ORPHA:1677 |
Congenital Tricuspid Valve Dysplasia |
|
Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, A... |
ORPHA:555874 |
Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... |
ORPHA:439 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Facial palsy, Left ventricular noncompaction cardiomyopathy, Left atrial enlargement, Cardiogenic... |
OMIM:619424 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Bronchiectasis, Right ventricular dilata... |
OMIM:619705 |
Peripartum Cardiomyopathy |
|
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... |
ORPHA:563 |
Duodenal Atresia |
|
Abnormality of the pulmonary artery |
ORPHA:1203 |
Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Patent foramen ovale, Ventricular septal defect, Anomalous origin of right pulmonary artery from ... |
OMIM:610338 |
Idiopathic Bronchiectasis |
|
Myocardial infarction, Respiratory tract infection, Emphysema, Bronchiectasis, Acute infectious p... |
ORPHA:60033 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Atrial septal defect, Truncus arteriosus, P... |
ORPHA:401935 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ... |
OMIM:615616 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... |
OMIM:615067 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Abnormal atrial arrangement, Atrial situs ambiguous, Peribron... |
ORPHA:244 |
Truncus Arteriosus |
|
Anomalous origin of one pulmonary artery from ascending aorta, Cardiomegaly, Abnormal lung lobati... |
ORPHA:3384 |
Congenital Lobar Emphysema |
|
Emphysema |
ORPHA:1928 |
Waardenburg Syndrome Type 3 |
|
Atrial septal defect, Atelectasis, Camptodactyly of finger |
ORPHA:896 |
Respiratory Distress Syndrome In Premature Infants |
|
Atelectasis, Pulmonary edema |
OMIM:267450 |
Pagod Syndrome |
|
Sudden cardiac death, Congenital diaphragmatic hernia, Situs inversus totalis, Pulmonary artery h... |
ORPHA:991 |
Meconium Aspiration Syndrome |
|
Atelectasis, Pneumothorax, Abnormal heart rate variability, Aspiration pneumonia, Pulmonary arter... |
ORPHA:70588 |
Sarcoidosis, Susceptibility To, 2 |
|
Facial palsy, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphology, Pleural e... |
OMIM:612387 |
Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Dextrocardia, Abnormal hemidiaphragm morphology, Secundum atria... |
ORPHA:2257 |
C1Q Deficiency 2 |
|
Atelectasis, Recurrent lower respiratory tract infections, Bronchiectasis, Vasculitis in the skin |
OMIM:620321 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Spontaneous neonatal pneumothorax, Intraalveolar phospholipid accumulation, Abnormal pulmonary in... |
ORPHA:217563 |
Familial Nasal Acilia |
|
Atelectasis, Recurrent upper respiratory tract infections, Bronchiectasis |
ORPHA:922 |
Recurrent Respiratory Papillomatosis |
|
Atelectasis, Abnormal lung morphology, Recurrent pneumonia, Recurrent upper respiratory tract inf... |
ORPHA:60032 |
Heterotaxy, Visceral, 12, Autosomal |
|
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... |
OMIM:619702 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Recurrent respiratory infections, Ventricular septal defect, Atelectasis, Cystic pattern on pulmo... |
OMIM:610978 |
Microphthalmia, Syndromic 9 |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Agenesis of pulmonary vessels, Hypopl... |
OMIM:601186 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral re... |
OMIM:619167 |
Cardiac Valvular Dysplasia 1 |
|
Tricuspid regurgitation, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, ... |
OMIM:212093 |
Double Outlet Right Ventricle |
|
Tachycardia, Ventricular septal defect, Double outlet right ventricle, Heart murmur, Coarctation ... |
ORPHA:3426 |
Birt-Hogg-Dubé Syndrome |
|
Emphysema, Pneumothorax, Pulmonary sequestration |
ORPHA:122 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Tricuspid regurgitation, Atelectasis, Bronchiectasis, Recurrent lower respiratory tract infection... |
OMIM:620233 |
Allergic Bronchopulmonary Aspergillosis |
|
Pulmonary arterial hypertension, Emphysema, Bronchiectasis |
ORPHA:1164 |
Tempi Syndrome |
|
Intracranial hemorrhage, Transudative pleural effusion, Abnormality of the pulmonary vasculature,... |
ORPHA:284227 |
Bare Lymphocyte Syndrome, Type I |
|
Bronchiolitis, Emphysema, Bronchiectasis, Recurrent bronchitis |
OMIM:604571 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Pneumonia, Cardiomegaly, Partial anomalous pulmonary venous return, Pn... |
ORPHA:95430 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Aortic regurgitation, Tricuspid regurgitation, Reduced left ventricular ejection fraction, Left v... |
OMIM:616501 |
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
|
Emphysema, Portal hypertension |
OMIM:210050 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Recurrent respiratory infections, Ventricular septal defect, Parachute mitral valve, Pulmonary hy... |
OMIM:618316 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... |
OMIM:601214 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Aortic regurgitation, Congestive heart failure, Dilated cardiomyopathy, Heart murmur, Right aorti... |
ORPHA:2326 |
Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Atelectasis, Recurrent pneumonia |
ORPHA:3348 |
Alpha-1-Antitrypsin Deficiency |
|
Emphysema |
ORPHA:60 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Respiratory tract infection, Hypersensitivity pneumonitis, Bronchiectasis, Honeycomb lung, Chroni... |
ORPHA:79127 |
Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Situs inversus totalis, Atelectasis, Bronchiectasis, Recurrent bronchitis |
OMIM:244400 |
Heterotaxy, Visceral, 5, Autosomal |
|
Atrial reentry tachycardia, Bilateral trilobed lung, Right atrial isomerism, Ventricular septal d... |
OMIM:270100 |
Myotubular Myopathy With Abnormal Genital Development |
|
Myopathy, Atelectasis, Centrally nucleated skeletal muscle fibers |
OMIM:300219 |
Scleromyxedema |
|
Transient ischemic attack, Raynaud phenomenon, Abnormal lung morphology, Abnormal skeletal muscle... |
ORPHA:167635 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Myositis, Absent muscle fiber merosin, Facial palsy, Atelectasis, Flexion contracture, Cardiomyop... |
ORPHA:258 |
Cutis Laxa, Autosomal Dominant 1 |
|
Aortic regurgitation, Ventricular septal defect, Congestive heart failure, Bronchiectasis, Mitral... |
OMIM:123700 |
Phaver Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Hypoplastic aortic arch, Coarctation of aorta... |
ORPHA:2876 |
Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Emphysema |
OMIM:618307 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Pulmonary artery stenosis,... |
ORPHA:3427 |
Fanconi Renotubular Syndrome 5 |
|
Hypertension, Emphysema, Pulmonary fibrosis, Lung adenocarcinoma |
OMIM:618913 |
Seckel Syndrome 9 |
|
Recurrent respiratory infections, Ventricular septal defect, Congenital diaphragmatic hernia, Pul... |
OMIM:616777 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Thoracic aortic aneurysm, Facial hypotonia, Transient ischemic attack, Glycogen accumulation in m... |
ORPHA:365 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Atelectasis, Pleural effusion, Hypersensitivity pneumonitis |
ORPHA:2902 |
Adams-Oliver Syndrome 5 |
|
Right atrial enlargement, Pulmonic stenosis, Pulmonary arterial hypertension, Patent foramen oval... |
OMIM:616028 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Pulmonary artery stenosis, Bilateral ... |
OMIM:611812 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Hypertension, Atrial septal defect, Pulmonary art... |
OMIM:613834 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Abnormal lung lobation, Atrial septal defect, Atri... |
OMIM:265380 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Posterolateral diaphragmatic hernia, Morgagni diaphragmatic hernia, Atelectasis, Recurrent pneumo... |
OMIM:613177 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Right ventricular dilatation, Myopathy, Limb-girdle muscular dystrophy, Muscular dystrophy, Muscl... |
ORPHA:369840 |
Aminopterin/Methotrexate Embryofetopathy |
|
Situs inversus totalis, Tetralogy of Fallot, Ventricular septal defect, Pulmonary artery atresia |
ORPHA:1908 |
Homozygous Familial Hypercholesterolemia |
|
Premature arteriosclerosis, Angina pectoris, Myocardial infarction, Sudden cardiac death, Precoci... |
ORPHA:391665 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Mitral atresia, Double outlet right ventricle, Supravalvar pulmonary stenosis, Coarctation of aor... |
OMIM:618164 |
Ritscher-Schinzel Syndrome 2 |
|
Ventricular septal defect, Camptodactyly of finger, Pulmonary artery hypoplasia, Camptodactyly, A... |
OMIM:300963 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Ventricular septal defect, Aortopulmonary collateral arteries, Aortopulmonary window, Pulmonary a... |
OMIM:620025 |
Loeys-Dietz Syndrome 4 |
|
Torticollis, Bicuspid aortic valve, Pneumothorax, Mitral valve prolapse, Ascending tubular aorta ... |
OMIM:614816 |
Velocardiofacial Syndrome |
|
Ventricular septal defect, Interrupted aortic arch, Unilateral primary pulmonary dysgenesis, Pulm... |
OMIM:192430 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Recurrent respiratory infections, Congenital diaphragmatic hernia, Ascending tubular aorta aneury... |
OMIM:219100 |
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Right ventricular dilatation, Myopathy, Limb-girdle muscular dystrophy |
ORPHA:369847 |
Atypical Werner Syndrome |
|
Skeletal muscle atrophy, Telangiectasia of the skin, Aortic valve calcification, Congestive heart... |
ORPHA:79474 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Ventricular septal defect, Abnormal left ventricular function, Pulmonic stenosis, Pulmonary arter... |
OMIM:301056 |
Whim Syndrome |
|
Pneumonia, Respiratory tract infection, Atelectasis, Recurrent upper respiratory tract infections... |
ORPHA:51636 |
Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Recurrent respiratory infections, Atelectasis, Pneumothorax, Chylope... |
ORPHA:538 |
Flna-Related X-Linked Myxomatous Valvular Dysplasia |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Mitral valve prolapse, Mitr... |
ORPHA:555877 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Pericardial effusion, Restrictive cardiomyopathy, Right atrial enlargement, Endocardial fibroelas... |
OMIM:619313 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... |
ORPHA:99125 |
Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Abnormal pulmonary valve morphology, Portal hypertension, Pulmonary ... |
ORPHA:974 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Persistent fetal circulation, Tricuspid regurgitation, Dysplastic tricuspid valve, Mitral valve p... |
OMIM:612863 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Cardiac shunt, Pulmonary embolism, Right ventricular failure, Increased pulmonary vascular resist... |
ORPHA:70591 |
Congenital Tracheal Stenosis |
|
Ventricular septal defect, Ascending aorta hypoplasia, Abnormal lung morphology, Abnormal lung lo... |
ORPHA:141127 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
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Epistaxis, Pulmonary arteriovenous malformation, Telangiectasia, Hematochezia, Mitral valve prola... |
OMIM:175050 |
Focal Dermal Hypoplasia |
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Ventricular septal defect, Camptodactyly of finger, Diastasis recti, Congenital diaphragmatic her... |
ORPHA:2092 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
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Emphysema, Pulmonary fibrosis, Portal hypertension |
OMIM:620365 |
Lymphedema-Distichiasis Syndrome |
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Arrhythmia, Abnormality of the pulmonary vasculature |
ORPHA:33001 |
Tropical Endomyocardial Fibrosis |
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Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
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Pulmonary artery atresia, Ventricular septal defect, Patent foramen ovale |
OMIM:620113 |
Lujo Hemorrhagic Fever |
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Shock, Myocarditis, Atelectasis, Subconjunctival hemorrhage, Bradycardia, Hypotension |
ORPHA:319213 |
Keutel Syndrome |
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Peripheral pulmonary artery stenosis, Ventricular septal defect, Hypertension, Pulmonary artery h... |
OMIM:245150 |
Farber Disease |
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Skeletal muscle atrophy, CNS foam cells, Nodular pattern on pulmonary HRCT, Atelectasis, Flexion ... |
ORPHA:333 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
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Absent pulmonary artery, Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta |
OMIM:600460 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Recurrent bronchopulmonary infections, Emphysema, Recurrent pneumonia, Bronchiectasis |
OMIM:242700 |
Mosaic Trisomy 1 |
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Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Elbow flexio... |
ORPHA:1692 |
Heart Block, Congenital |
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Atrioventricular block, Myocardial fibrosis, Myocardial calcification, Absent atrioventricular no... |
OMIM:234700 |
Fabry Disease |
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Abnormal endocardium morphology, Conjunctival telangiectasia, Bundle branch block, Angina pectori... |
ORPHA:324 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Ventricular hypertrophy, Recurrent respiratory infections, Cardiomegaly, Atelectasis, Pulmonary f... |
OMIM:618278 |
Autosomal Dominant Hyper-Ige Syndrome |
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Atelectasis, Recurrent respiratory infections |
ORPHA:2314 |
Neonatal Marfan Syndrome |
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Tricuspid regurgitation, Abnormal cardiac ventricle morphology, Flexion contracture, Heart murmur... |
ORPHA:284979 |
Peters Plus Syndrome |
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Bicuspid pulmonary valve, Abnormal pulmonary vein morphology, Abnormal cardiac septum morphology,... |
ORPHA:709 |
Heart Defects, Congenital, And Other Congenital Anomalies |
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Double outlet left ventricle, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ... |
OMIM:600001 |
Relapsing Polychondritis |
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Abnormal endocardium morphology, Pericarditis, Myocarditis, Atelectasis, Large vessel vasculitis,... |
ORPHA:728 |
Autosomal Recessive Cutis Laxa Type 1 |
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Abnormal cardiac ventricular function, Congestive heart failure, Dilatation of the ventricular ca... |
ORPHA:90349 |
Alg9-Cdg |
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Torticollis, Tricuspid regurgitation, Ventricular septal defect, Hypoplasia of the musculature, P... |
ORPHA:79328 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
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Torticollis, Multiple joint contractures, Thoracic aortic aneurysm, Repeated pneumothoraces, Atel... |
ORPHA:536467 |
Short-Rib Thoracic Dysplasia 12 |
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Atelectasis, Ventricular septal defect, Patent foramen ovale, Pulmonary hypoplasia |
OMIM:269860 |
Nestor-Guillermo Progeria Syndrome |
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Left atrial enlargement, Flexion contracture, Right bundle branch block, Hypertension, Mitral reg... |
OMIM:614008 |
Coffin-Siris Syndrome 4 |
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Ventricular septal defect, Mitral atresia, Macroglossia, Pulmonic stenosis, Atrial septal defect,... |
OMIM:614609 |
Robinow Syndrome, Autosomal Dominant 3 |
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Tricuspid regurgitation, Ventricular septal defect, Hypoplastic right heart, Camptodactyly, Pulmo... |
OMIM:616894 |
Zygomycosis |
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Gastrointestinal hemorrhage, Pericarditis, Epistaxis, Hematemesis, Myocarditis, Atelectasis, Pneu... |
ORPHA:73263 |
Marfan Syndrome |
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Aortic regurgitation, Pulmonary artery dilatation, Decreased muscle mass, Tricuspid regurgitation... |
OMIM:154700 |
Ellis Van Creveld Syndrome |
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Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,... |
ORPHA:289 |
Cutis Laxa, Autosomal Recessive, Type Ib |
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Congenital diaphragmatic hernia, Emphysema, Aortic root aneurysm, Bradycardia, Pulmonary artery a... |
OMIM:614437 |
Common Variable Immunodeficiency |
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Recurrent respiratory infections, Pneumonia, Vasculitis, Bronchiectasis, Emphysema, Recurrent bro... |
ORPHA:1572 |
Marfan Syndrome |
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Pulmonary artery dilatation, Skeletal muscle atrophy, Mitral valve calcification, Spontaneous pne... |
ORPHA:558 |
Pauci-Immune Glomerulonephritis |
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Small vessel vasculitis, Arteritis, Abnormality of the pulmonary vasculature, Pulmonary hemorrhage |
ORPHA:93126 |
22Q11.2 Deletion Syndrome |
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Gastrointestinal hemorrhage, Ventricular septal defect, Abnormal pulmonary valve morphology, Atel... |
ORPHA:567 |
Unilateral Polymicrogyria |
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Epistaxis, Pulmonary arteriovenous malformation, Abnormal heart morphology |
ORPHA:268943 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
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Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... |
OMIM:610655 |
Stuve-Wiedemann Syndrome 1 |
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Elbow flexion contracture, Pulmonary arterial medial hypertrophy, Knee flexion contracture, Pulmo... |
OMIM:601559 |
Autosomal Dominant Cutis Laxa |
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Aortic regurgitation, Congestive heart failure, Dilatation of the ventricular cavity, Bronchiecta... |
ORPHA:90348 |
Ehlers-Danlos Syndrome, Vascular Type |
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Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... |
OMIM:130050 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Bicuspid aortic valve, Abnormal pulmonary valve morphology, Pulmonary artery sling, Flexion contr... |
ORPHA:261537 |
Sarcoidosis, Susceptibility To, 1 |
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Pericardial effusion, Bronchiectasis, Abnormal pulmonary interstitial morphology, Pleural effusio... |
OMIM:181000 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
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Atrial septal defect, Right atrial enlargement |
OMIM:615219 |
Nocardiosis |
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Pericarditis, Abnormal heart valve morphology, Pneumonia, Pneumothorax, Endocarditis, Pleural eff... |
ORPHA:31204 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Bicuspid aortic valve, Ventricular septal defect, Abnormal pulmonary valve morphology, Pulmonary ... |
ORPHA:261552 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
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Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Pulmonary arteriovenou... |
OMIM:600376 |
Granulomatous Disease, Chronic, X-Linked |
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Atelectasis, Pleural effusion, Recurrent pneumonia |
OMIM:306400 |
Tetraamelia Syndrome 1 |
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Peripheral pulmonary vessel aplasia, Pulmonary hypoplasia, Congenital diaphragmatic hernia |
OMIM:273395 |
Viss Syndrome |
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Epidural hemorrhage, Ventricular septal defect, Abnormal branching pattern of the aortic arch, Co... |
OMIM:619472 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
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Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Pulmonary arteriovenou... |
OMIM:187300 |
Chand Syndrome |
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Atelectasis |
ORPHA:1401 |
Hyperlysinemia |
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Pulmonary artery hypoplasia, Recurrent pneumonia |
ORPHA:2203 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricular septal defect, Atri... |
OMIM:619534 |
Digeorge Syndrome |
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Ventricular septal defect, Atelectasis, Recurrent pneumonia, Interrupted aortic arch, Recurrent s... |
OMIM:188400 |
Lipodystrophy, Familial Partial, Type 7 |
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Orthostatic hypotension, Spontaneous pneumothorax, Pulmonary arteriovenous malformation, Hyperten... |
OMIM:606721 |
Oculocerebrorenal Syndrome Of Lowe |
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Atelectasis, Recurrent respiratory infections |
ORPHA:534 |
Charge Syndrome |
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Overriding aorta, Ventricular septal defect, Facial palsy, Secundum atrial septal defect, Dysplas... |
OMIM:214800 |
Osteogenesis Imperfecta, Type Vii |
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Absent pulmonary artery, Hypoplastic pulmonary veins |
OMIM:610682 |
Juvenile Polyposis Syndrome |
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Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Transient ischemic attack, Epistax... |
ORPHA:2929 |