| Pulmonary Venoocclusive Disease 1, Autosomal Dominant |
|
Pulmonary arterial hypertension, Elevated jugular venous pressure, Interlobular septal thickening... |
OMIM:265450 |
| Pulmonary Hypertension, Primary, 1 |
|
Elevated right atrial pressure, Pulmonary arterial hypertension, Dyspnea, Cough, Hypertension, Pu... |
OMIM:178600 |
| Pulmonary Hypertension, Primary, 3 |
|
Elevated pulmonary artery pressure, Pulmonary arterial hypertension, Dyspnea, Increased pulmonary... |
OMIM:615343 |
| Pulmonary Venoocclusive Disease 2, Autosomal Recessive |
|
Pulmonary capillary hemangiomatosis, Pulmonary arterial hypertension, Dyspnea, Decreased DLCO, Co... |
OMIM:234810 |
| Atrioventricular Septal Defect 5 |
|
Atrioventricular canal defect, Hypoplastic left heart, Muscular ventricular septal defect |
OMIM:614474 |
| Pulmonary Hypertension, Primary, 4 |
|
Pulmonary arterial hypertension, First degree atrioventricular block, Elevated pulmonary artery p... |
OMIM:615344 |
| Pulmonary Hypertension, Primary, 2 |
|
Abnormally loud pulmonic component of the second heart sound, Pulmonary arterial hypertension, In... |
OMIM:615342 |
| Scheuermann Disease |
|
Osteochondrosis, Morbus Scheuermann, Kyphosis |
OMIM:181440 |
| Interstitial Lung Disease 2 |
|
Alveolar cell carcinoma, Pulmonary arterial hypertension, Dyspnea, Decreased DLCO, Cough, Usual i... |
OMIM:178500 |
| Thrombophilia Due To Thrombomodulin Defect |
|
Pulmonary embolism |
OMIM:614486 |
| Left Ventricular Noncompaction 10 |
|
Pulmonary arterial hypertension, Syncope, Congestive heart failure, Dilated cardiomyopathy, Incre... |
OMIM:615396 |
| Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Elevated pulmonary artery pressure, Pulmonary edema |
OMIM:178400 |
| Thrombophilia, X-Linked, Due To Factor Viii Defect |
|
Pulmonary embolism |
OMIM:301071 |
| Cardiomyopathy, Familial Hypertrophic, 15 |
|
Pulmonary arterial hypertension, Apical hypertrophic cardiomyopathy, Left ventricular outflow tra... |
OMIM:613255 |
| Factor V Excess With Spontaneous Thrombosis |
|
Pulmonary embolism, Peripheral arterial stenosis |
OMIM:134400 |
| Cleft-Limb-Heart Malformation Syndrome |
|
Truncus arteriosus |
OMIM:215850 |
| Total Anomalous Pulmonary Venous Return 1 |
|
Total anomalous pulmonary venous return, Recurrent respiratory infections, Pulmonary arterial hyp... |
OMIM:106700 |
| Antithrombin Iii Deficiency |
|
Arterial occlusion, Pulmonary embolism |
OMIM:613118 |
| Cardiomyopathy, Dilated, 2C |
|
Death in childhood, Pulmonary arterial hypertension, Reduced left ventricular ejection fraction, ... |
OMIM:618189 |
| Allergic Bronchopulmonary Aspergillosis |
|
Pulmonary arterial hypertension, Respiratory insufficiency, Cough, Bronchiectasis, Emphysema, Asthma |
ORPHA:1164 |
| Thrombophilia Due To Thrombin Defect |
|
Pulmonary embolism |
OMIM:188050 |
| Conotruncal Heart Malformations |
|
Coarctation of aorta, Complete atrioventricular canal defect, Double outlet right ventricle, Trun... |
OMIM:217095 |
| Emphysema, Hereditary Pulmonary |
|
Chronic bronchitis, Emphysema, Chronic pulmonary obstruction |
OMIM:130700 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Pulmonary arterial hypertension, Dyspnea, Systolic heart murmur, Right ventricular failure, Synco... |
ORPHA:99104 |
| Thrombophilia Due To Protein C Deficiency, Autosomal Dominant |
|
Pulmonary embolism |
OMIM:176860 |
| Idiopathic Pulmonary Arterial Hypertension |
|
Pulmonary arterial hypertension, Dyspnea, Syncope, Palpitations, Tricuspid regurgitation, Elevate... |
ORPHA:275766 |
| Cervical Vertebral Dysplasia |
|
Anterior atlanto-occipital dislocation, Cervical vertebral facet hypoplasia, Cervical vertebral d... |
OMIM:118005 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Truncus arteriosus, Unilateral renal agenesis, Ventricular septal defect |
OMIM:601355 |
| Cayler Cardiofacial Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot |
OMIM:125520 |
| Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Chronic sinusitis, Chronic pulmonary obstruction, Atelectasis, ... |
OMIM:253240 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Tricuspid regurgitation, Transient ischemic attack, Supraventricular arrhythmia, Bundle branch bl... |
ORPHA:99103 |
| Aorta Coarctation |
|
Stroke, Hypoplastic left heart, Coarctation of the descending aortic arch, Tetralogy of Fallot, H... |
ORPHA:1457 |
| Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... |
OMIM:615872 |
| Lymphedema And Cerebral Arteriovenous Anomaly |
|
Pulmonary arterial hypertension |
OMIM:152900 |
| Megabladder, Congenital |
|
Hyperechogenic kidneys, Left ventricular noncompaction cardiomyopathy, Multiple glomerular cysts,... |
OMIM:618719 |
| Ventricular Septal Defect 1 |
|
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot, Atrioventricular canal defect,... |
OMIM:614429 |
| Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Pulmonary arterial hypertension, Abnormal pulmonary interstitial m... |
ORPHA:217563 |
| Heparin-Induced Thrombocytopenia |
|
Myocardial infarction, Pulmonary embolism, Cerebral ischemia |
ORPHA:3325 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect |
OMIM:601127 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal respiratory distress, Pulmonary arterial hypertension, Dyspnea, Absent bronchoalveolar d... |
OMIM:265120 |
| Cardiomyopathy, Dilated, 2H |
|
Secundum atrial septal defect, Muscular ventricular septal defect |
OMIM:620203 |
| Spondyloepiphyseal Dysplasia Tarda With Mental Retardation |
|
Platyspondyly, Coxa valga, Short greater sciatic notch, Anterior beaking of lumbar vertebrae |
OMIM:271620 |
| Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Chronic sinusitis, Atelectasis, Decreased nasal nitric oxide, Recu... |
OMIM:615294 |
| Sarcoidosis, Susceptibility To, 2 |
|
Pulmonary arterial hypertension, Dyspnea, Restrictive ventilatory defect, Hypoxemia, Pulmonary fi... |
OMIM:612387 |
| Meconium Aspiration Syndrome |
|
Abnormal heart rate variability, Pulmonary arterial hypertension, Aspiration pneumonia, Atelectas... |
ORPHA:70588 |
| Bardet-Biedl Syndrome 19 |
|
Hydronephrosis, Hypoplastic left heart, Atrial septal defect, Ventricular septal defect, Renal in... |
OMIM:615996 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Paradoxical splitting of the second heart sound, Tricuspid regurgitation, Supraventricular arrhyt... |
ORPHA:99105 |
| Stuve-Wiedemann Syndrome 2 |
|
Pulmonary arterial hypertension, Death in adolescence, Neonatal death, Stillbirth, Respiratory di... |
OMIM:619751 |
| Pulmonary Alveolar Microlithiasis |
|
Bronchitis, Dyspnea, Tachypnea, Subpleural interstitial thickening, Restrictive ventilatory defec... |
ORPHA:60025 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Abnormal coronary artery morphology, Coarctation of aorta, A... |
ORPHA:860 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Desquamative interstitial pneumonitis, Hypoxemia, Reduced forced vital capacity, Respiratory fail... |
OMIM:610913 |
| Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency |
|
Pulmonary embolism |
ORPHA:82 |
| Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Pulmonary arterial hypertension, Dyspnea, Syncope, Palpitations, Elevated jugular venous pressure... |
ORPHA:422 |
| Hughes-Stovin Syndrome |
|
Pulmonary arterial hypertension, Dyspnea, Vasculitis, Cough, Pulmonary embolism, Cardiorespirator... |
ORPHA:228116 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Coarctation of aorta, Hypoplastic left heart, Ventricular septal defect, Tetralogy of Fallot, Atr... |
OMIM:615779 |
| Noduli Cutanei, Multiple, With Urinary Tract Abnormalities |
|
Hydronephrosis, Duplicated collecting system |
OMIM:163850 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Pulmonary artery atresia, Atrial septal defect, Ventricular septal defect, Ectopic kidney, Abnorm... |
ORPHA:401935 |
| Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Hydronephrosis, Hydroureter, Pulmonic stenosis |
OMIM:264140 |
| Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Pulmonary hypoplasia, Neonatal respiratory distress, Pulmonary arterial hypertension, Cardiomyopathy |
OMIM:619003 |
| Familial Dilated Cardiomyopathy |
|
Dyspnea, Mitral regurgitation, Left ventricular systolic dysfunction, Reduced left ventricular ej... |
ORPHA:217607 |
| Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
| Long Qt Syndrome 13 |
|
Cardiac arrest, Prolonged QTc interval, Reduced left ventricular ejection fraction, Torsade de po... |
OMIM:613485 |
| Congenital Pulmonary Lymphangiectasia |
|
Pulmonary arterial hypertension, Pulmonic stenosis, Chronic pulmonary obstruction, Cough, Tricusp... |
ORPHA:2414 |
| Pulmonary Hypertension, Primary, 5 |
|
Pulmonary arterial hypertension, Syncope, Angina pectoris, Right ventricular failure, Exertional ... |
OMIM:265400 |
| 8P23.1 Duplication Syndrome |
|
Hydronephrosis, Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect |
ORPHA:251076 |
| Cardiomyopathy, Dilated, 2D |
|
Interstitial cardiac fibrosis, Perinuclear cardiomyocyte vacuolization, Right atrial enlargement,... |
OMIM:619371 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Secundum atrial septal defect, Pulmonary artery atresia, Coarctation of aorta, Pulmonic stenosis,... |
OMIM:613854 |
| Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Bilateral coxa valga, Abnormality of the knee, Abnormal ilium morphology, Platyspondyly, Abnormal... |
ORPHA:163665 |
| Spondylocostal Dysostosis 6, Autosomal Recessive |
|
Scoliosis, Butterfly vertebrae, Hemivertebrae, Spinal canal stenosis, Cervical kyphosis |
OMIM:616566 |
| Bronchopulmonary Dysplasia |
|
Dyspnea, Abnormal respiratory system physiology, Atelectasis, Right ventricular failure, Cough, P... |
ORPHA:70589 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Ventricular septal defect, Renal hypoplasia/aplasia, Abnormal aortic morphology, Truncus arterios... |
ORPHA:2516 |
| Limited Cutaneous Systemic Sclerosis |
|
Pulmonary arterial hypertension, Mucosal telangiectasiae, Pulmonary fibrosis, Telangiectasia of t... |
ORPHA:220402 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Situs inversus totalis, Pulmonary artery atresia, Dextrocardia, Hypoplasia of right ventricle, Ri... |
OMIM:616749 |
| Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Cough, Chronic rhinitis, Recurrent lower respiratory tract infections, Recurrent pne... |
OMIM:616726 |
| Cardiac Valvular Dysplasia 1 |
|
Double inlet left ventricle, Atrial septal defect, Ventricular septal defect, Hydroureter, Left a... |
OMIM:212093 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Recurrent respiratory infections, Atelectasis, Respiratory distress, Bronchiectasis, Abnormal muc... |
OMIM:619466 |
| Cranioacrofacial Syndrome |
|
Dupuytren contracture, Pulmonic stenosis, Ventricular septal defect |
OMIM:122850 |
| Epiphyseal Dysplasia, Multiple, 6 |
|
Abnormality of the knee, Flat distal femoral epiphysis, Irregular vertebral endplates, Schmorl's ... |
OMIM:614135 |
| Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Truncus arteriosus |
OMIM:611867 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Pulmonary arterial hypertension, Abnormal T-wave, Reduced FEV1/FVC ratio, Central sleep apnea, Ri... |
ORPHA:70591 |
| Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
| Adams-Oliver Syndrome 6 |
|
Truncus arteriosus, Renal hypoplasia, Ventricular septal defect |
OMIM:616589 |
| Respiratory Distress Syndrome In Premature Infants |
|
Neonatal respiratory distress, Dyspnea, Atelectasis, Respiratory distress, Pulmonary edema, Tachy... |
OMIM:267450 |
| Symbrachydactyly Of Hands And Feet |
|
Scoliosis, Abnormality of the humerus, Abnormality of the humeroulnar joint, Aplasia/Hypoplasia o... |
ORPHA:1570 |
| Tricuspid Atresia |
|
Pulmonary artery atresia, Hypoplasia of right ventricle, Coarctation of aorta, Ventricular septal... |
ORPHA:1209 |
| Atrial Septal Defect 9 |
|
Pulmonary arterial hypertension |
OMIM:614475 |
| Combined Oxidative Phosphorylation Deficiency 22 |
|
Pulmonary arterial hypertension, Congestive heart failure |
OMIM:616045 |
| Autosomal Dominant Coarctation Of Aorta |
|
Hypoplastic left heart, Ventricular septal defect, Aortic arch aneurysm, Abnormal aortic arch mor... |
ORPHA:1455 |
| Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
| Pulmonary Atresia With Intact Ventricular Septum |
|
Pulmonary artery atresia |
OMIM:265150 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Pulmonary artery atresia, Dextrocardia, Right aortic arch, Ventricular septal defect, Total anoma... |
OMIM:613751 |
| Birk-Aharoni Syndrome |
|
Muscular ventricular septal defect, Duplicated collecting system, Micropenis |
OMIM:620071 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Slender finger, Contracture of... |
OMIM:609813 |
| Pulmonary Capillary Hemangiomatosis |
|
Pulmonary capillary hemangiomatosis, Dyspnea, Diffuse alveolar hemorrhage, Decreased DLCO, Interl... |
ORPHA:199241 |
| Spondyloepiphyseal Dysplasia, Maroteaux Type |
|
Platyspondyly, Genu valgum |
OMIM:184095 |
| Spondylocamptodactyly Syndrome |
|
Platyspondyly, Camptodactyly of finger, Scoliosis |
ORPHA:3180 |
| Cardiomyopathy, Dilated, 1R |
|
Interstitial cardiac fibrosis, Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left vent... |
OMIM:613424 |
| Acrodysplasia Scoliosis |
|
Scoliosis, Spina bifida occulta, Vertebral segmentation defect, Brachydactyly |
ORPHA:2956 |
| Osteoarthritis With Mild Chondrodysplasia |
|
Knee osteoarthritis, Irregular vertebral endplates, Schmorl's node, Platyspondyly, Beaking of ver... |
OMIM:604864 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Ventricular septal defect, Tetralogy of Fallot, Atrial septal defect, Bicuspid aortic valve, Doub... |
OMIM:617912 |
| Spondylosis, Cervical |
|
Spondylolysis, Cervical spondylosis, Osteoarthritis, Spondylolisthesis, Spina bifida occulta |
OMIM:184300 |
| Scimitar Syndrome |
|
Hypoplastic left heart, Ventricular septal defect, Tetralogy of Fallot, Atrial septal defect, Lef... |
ORPHA:185 |
| Second Metatarsal-Metacarpal Syndrome |
|
Platyspondyly, Abnormal metacarpal morphology, Synostosis of carpals/tarsals |
OMIM:269630 |
| Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent bronchitis, Chronic sinusitis, Atelectasis |
OMIM:300455 |
| Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Ventricular septal defect, Abnormal mitral valve morphology, Abnormal rib m... |
ORPHA:1354 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Anomalous origin of left pulmonary artery from ascending aorta, Pulmonary arterial hypertension, ... |
ORPHA:99050 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Right aortic arch, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Renal cy... |
OMIM:617478 |
| Thrombophilia Due To Protein S Deficiency, Autosomal Dominant |
|
Pulmonary embolism |
OMIM:612336 |
| Indomethacin Embryofetopathy |
|
Atrial septal defect, Ventricular septal defect, Abnormal renal tubule morphology, Renal insuffic... |
ORPHA:1909 |
| Yellow Nail Syndrome |
|
Recurrent respiratory infections, Pulmonary arterial hypertension, Dyspnea, Pleuritis, Cough, Neo... |
ORPHA:662 |
| Familial Nasal Acilia |
|
Dyspnea, Chronic sinusitis, Atelectasis, Chronic rhinitis, Respiratory distress, Bronchiectasis, ... |
ORPHA:922 |
| Microphthalmia, Syndromic 9 |
|
Hydronephrosis, Pulmonary artery atresia, Coarctation of aorta, Pulmonic stenosis, Atrial septal ... |
OMIM:601186 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Recurrent urinary tract infections, Camptodactyly, Abnormality of the kidney, Micropenis, Atrial ... |
ORPHA:363444 |
| Eisenmenger Syndrome |
|
Hypoxemia, Tricuspid regurgitation, Supraventricular arrhythmia, Angina pectoris, Atrial fibrilla... |
ORPHA:97214 |
| Supravalvular Aortic Stenosis |
|
Pulmonary artery stenosis, Supravalvular aortic stenosis, Pulmonic stenosis, Peripheral arterial ... |
OMIM:185500 |
| Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Short neck, Hemivertebrae, Vertebral clefting, Rib fusion, Vertebral segmentation defect |
OMIM:608681 |
| Asbestos Intoxication |
|
Atelectasis, Hypoxemia, Reduced forced vital capacity, Reduced vital capacity, Respiratory failur... |
ORPHA:2302 |
| Idiopathic Bronchiectasis |
|
Dyspnea, Abnormal respiratory system physiology, Reduced FEV1/FVC ratio, Wheezing, Productive cou... |
ORPHA:60033 |
| Pulmonary Arteriovenous Malformation |
|
Pulmonary arterial hypertension, Dyspnea, Pulmonary hemorrhage, Cough, Palpitations, Hypoxemia, I... |
ORPHA:2038 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Muscular ventricular septal defect |
OMIM:620062 |
| Peripartum Cardiomyopathy |
|
Myocarditis, Reduced left ventricular ejection fraction, Respiratory failure, Paroxysmal dyspnea,... |
ORPHA:563 |
| Osteomesopyknosis |
|
Sclerotic vertebral body, Scoliosis, Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:2777 |
| Ventricular Septal Defect 3 |
|
Ventricular septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal defect |
OMIM:614432 |
| Recurrent Respiratory Papillomatosis |
|
Tracheomalacia, Dyspnea, Tachypnea, Atelectasis, Respiratory insufficiency, Syncope, Upper airway... |
ORPHA:60032 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Situs inversus totalis, Pulmonic stenosis, Enlarged kidney, Aortic valve stenosis, Hypertrophic c... |
OMIM:615415 |
| Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus |
ORPHA:228190 |
| Cardiomyopathy, Dilated, 1S |
|
Pulmonary arterial hypertension, Ventricular tachycardia, Mitral regurgitation, Coarctation of ao... |
OMIM:613426 |
| Stankiewicz-Isidor Syndrome |
|
Micropenis, Ventricular septal defect, Patent ductus arteriosus, Ureteral duplication, Truncus ar... |
OMIM:617516 |
| Keutel Syndrome |
|
Pulmonary artery stenosis, Recurrent respiratory infections, Pulmonary arterial hypertension, Rec... |
ORPHA:85202 |
| Thrombophilia Due To Protein C Deficiency, Autosomal Recessive |
|
Vitreous hemorrhage, Pulmonary embolism |
OMIM:612304 |
| Coenzyme Q10 Deficiency, Primary, 2 |
|
Pulmonary arterial hypertension, Mitral regurgitation, Aortic regurgitation |
OMIM:614651 |
| Truncus Arteriosus |
|
Right aortic arch, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, Interrup... |
ORPHA:3384 |
| Genitopalatocardiac Syndrome |
|
Right aortic arch, Renal cyst, Ventricular septal defect, Double outlet right ventricle, Hypospad... |
OMIM:231060 |
| Renal Hypodysplasia/Aplasia 3 |
|
Hydronephrosis, Horseshoe kidney, Renal dysplasia, Vesicoureteral reflux, Multicystic kidney dysp... |
OMIM:617805 |
| Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Atrioventricular canal defect, Pulmonary artery atresia, Dextrocardia, Right aortic arch with mir... |
OMIM:606217 |
| Atrial Septal Defect, Ostium Primum Type |
|
Tricuspid regurgitation, Atrial fibrillation, Exertional dyspnea, Pulmonary artery dilatation, Re... |
ORPHA:99106 |
| Takayasu Arteritis |
|
Pulmonary arterial hypertension, Vasculitis, Hypertension, Ascending tubular aorta aneurysm, Cere... |
ORPHA:3287 |
| Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Coarctation of aorta, Interrupted aortic arch |
OMIM:107550 |
| Eng-Strom Syndrome |
|
Abnormal cardiac septum morphology, Camptodactyly of finger, Ventricular septal defect |
ORPHA:1937 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Inspiratory crackles, Dyspnea, Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Decreased D... |
ORPHA:79127 |
| Verheij Syndrome |
|
Renal cyst, Ventricular septal defect, Truncus arteriosus, Renal agenesis, Renal hypoplasia |
OMIM:615583 |
| Coronary Arterial Fistula |
|
Abnormal EKG, Pulmonary arterial hypertension, Systolic heart murmur, Continuous heart murmur, Sy... |
ORPHA:2041 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Stroke, Myopathy, Ventricular hypertrophy, Right atrial enlargement, Muscular ventricular septal ... |
OMIM:115197 |
| Renal Caliceal Diverticuli-Deafness Syndrome |
|
Hydronephrosis, Abnormality of the kidney, Hydroureter, Abnormality of the urinary system, Abnorm... |
ORPHA:2838 |
| Congenital Primary Megaureter |
|
Recurrent urinary tract infections, Hydronephrosis, Microscopic hematuria, Congenital megaureter,... |
ORPHA:617 |
| Infant Acute Respiratory Distress Syndrome |
|
Cardiac arrest, Hypotension, Atelectasis, Hypoxemia, Respiratory tract infection, Pulmonary edema... |
ORPHA:70587 |
| Double Outlet Right Ventricle |
|
Pulmonary artery atresia, Coarctation of aorta, Hypoplastic left heart, Pulmonic stenosis, Tetral... |
ORPHA:3426 |
| Congenital Tricuspid Stenosis |
|
Pulmonary arterial hypertension, Hypotension, Tricuspid regurgitation, Congestive heart failure, ... |
ORPHA:95459 |
| Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Ventricular septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot |
OMIM:617992 |
| Lethal Congenital Contracture Syndrome 2 |
|
Hydronephrosis, Ventricular septal defect, Skeletal muscle atrophy, Dilated cardiomyopathy, Arthr... |
OMIM:607598 |
| Antisynthetase Syndrome |
|
Myocarditis, Recurrent respiratory infections, Pulmonary arterial hypertension, Respiratory insuf... |
ORPHA:81 |
| Mesoaxial Hexadactyly And Cardiac Malformation |
|
Torticollis, Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Patent ductus ar... |
OMIM:249670 |
| 2p15-16.1 microdeletion syndrome |
|
Hydronephrosis, Camptodactyly of finger |
DECIPHER:70 |
| Hypoplastic Left Heart Syndrome |
|
Hypoplastic left heart, Atrial septal defect, Hypoplastic aortic arch, Mitral atresia, Patent duc... |
ORPHA:2248 |
| Spinal Dysplasia, Anhalt Type |
|
Narrow anterio-posterior vertebral body diameter, Thoracic hemivertebrae, Thoracolumbar scoliosis... |
OMIM:601344 |
| Right Atrial Isomerism |
|
Situs inversus totalis, Pulmonary artery atresia, Dextrocardia, Pulmonic stenosis, Ventricular se... |
OMIM:208530 |
| Atrial Septal Defect 2 |
|
Dextrocardia, Pulmonic stenosis, Ventricular septal defect, Atrial septal defect, Atrioventricula... |
OMIM:607941 |
| Timothy Syndrome |
|
Bronchitis, Pulmonary arterial hypertension, Ventricular tachycardia, Pneumonia, Atrioventricular... |
OMIM:601005 |
| Congenital Tracheomalacia |
|
Intercostal retractions, Right aortic arch, Productive cough, Pneumothorax, Pulmonary arterial hy... |
ORPHA:95430 |
| Ciliary Dyskinesia, Primary, 20 |
|
Recurrent respiratory infections, Pulmonary arterial hypertension, Atelectasis, Productive cough,... |
OMIM:615067 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Pulmonary arterial hypertension, Dyspnea, Atelectasis, Cough, Recurrent lower respiratory tract i... |
OMIM:620233 |
| Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus |
OMIM:604381 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Respiratory insufficiency, Abnormal aortic morphology, Abnormality of the pulmonary artery |
ORPHA:1166 |
| Acropectorovertebral Dysplasia |
|
Short thumb, Capitate-hamate fusion, Finger syndactyly, Synostosis of carpal bones, Toe syndactyl... |
OMIM:102510 |
| Klippel-Trénaunay Syndrome |
|
Respiratory insufficiency, Pulmonary embolism, Gastrointestinal hemorrhage, Congestive heart fail... |
ORPHA:90308 |
| Complete Atrioventricular Septal Defect |
|
Intercostal retractions, Abnormal EKG, Right bundle branch block, Third heart sound, Systolic hea... |
ORPHA:1329 |
| Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Hydronephrosis, Ectopic kidney, Vesicoureteral reflux, Multicystic kidney dysplasia, Renal hypopl... |
OMIM:618270 |
| Braddock Syndrome |
|
Neonatal respiratory distress, Pulmonary arterial hypertension, Pulmonary fibrosis |
ORPHA:52047 |
| Gaucher Disease, Type I |
|
Pulmonary arterial hypertension, Dyspnea, Mitral regurgitation, Hypertension, Aortic valve stenos... |
OMIM:230800 |
| Feingold Syndrome Type 1 |
|
Hydronephrosis, Abnormality of the kidney, Vesicoureteral reflux, Horseshoe kidney, Renal insuffi... |
ORPHA:391641 |
| Emanuel Syndrome |
|
Recurrent urinary tract infections, Torticollis, Micropenis, Pulmonic stenosis, Atrial septal def... |
OMIM:609029 |
| Heterotaxy, Visceral, 12, Autosomal |
|
Situs inversus totalis, Hypoplastic left heart, Right aortic arch, Ventricular septal defect, Atr... |
OMIM:619702 |
| Pulmonary Atresia-Intact Ventricular Septum Syndrome |
|
Pulmonary artery atresia |
ORPHA:1208 |
| Isolated Right Ventricular Hypoplasia |
|
Atrial septal defect, Right atrial enlargement, Muscular ventricular septal defect, Patent forame... |
ORPHA:439 |
| Alpha-1-Antitrypsin Deficiency |
|
Dyspnea, Chronic pulmonary obstruction, Cough, Chronic bronchitis, Panacinar emphysema, Bronchiec... |
OMIM:613490 |
| Sengers Syndrome |
|
Cardiac arrest, Pulmonary arterial hypertension, Respiratory insufficiency, Sudden cardiac death,... |
OMIM:212350 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Hip dysplasia, Radial metaphyseal irregularity, Metaphyseal cupping, Metaphyseal irregularity, Pr... |
ORPHA:174 |
| 22Q11.2 Duplication Syndrome |
|
Hypoplastic left heart, Ventricular septal defect, Tetralogy of Fallot, Interrupted aortic arch, ... |
ORPHA:1727 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left ventricular noncompaction, Myofiber... |
OMIM:612158 |
| Ritscher-Schinzel Syndrome 1 |
|
Hydronephrosis, Hypoplastic left heart, Pulmonic stenosis, Atrial septal defect, Tetralogy of Fal... |
OMIM:220210 |
| Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Bronchitis, Atelectasis, Respiratory insufficiency, Productive ... |
ORPHA:3348 |
| Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
| Lipoyltransferase 1 Deficiency |
|
Bradycardia, Pulmonary arterial hypertension |
OMIM:616299 |
| Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome |
|
Abnormality of the pulmonary artery |
ORPHA:1065 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Ventricular septal defect, Tetralogy of Fallot, Aortic aneurysm, Subvalvular aortic stenosis, Bic... |
OMIM:614980 |
| Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Arrhythmia, Hypertension, Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy |
ORPHA:1345 |
| Sandestig-Stefanova Syndrome |
|
Muscular ventricular septal defect, Camptodactyly, Perimembranous ventricular septal defect |
OMIM:618804 |
| Congenital Gerbode Defect |
|
Elevated right atrial pressure, Pulmonary arterial hypertension, Dyspnea, Systolic heart murmur, ... |
ORPHA:99095 |
| Gillespie Syndrome |
|
Truncus arteriosus |
OMIM:206700 |
| Familial Isolated Restrictive Cardiomyopathy |
|
Recurrent respiratory infections, Dyspnea, Mitral regurgitation, Syncope, Pulmonary venous hypert... |
ORPHA:75249 |
| Congenital Heart Defects, Multiple Types, 7 |
|
Pulmonary artery atresia, Right aortic arch, Tetralogy of Fallot, Pulmonic stenosis, Absence of t... |
OMIM:618780 |
| Osteogenesis Imperfecta, Type Vi |
|
Vertebral compression fracture, Protrusio acetabuli, Beaking of vertebral bodies, Biconcave verte... |
OMIM:613982 |
| Aortic Valve Disease 1 |
|
Ventricular septal defect, Mitral atresia, Tetralogy of Fallot, Bicuspid aortic valve, Double out... |
OMIM:109730 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left ventricular noncompaction, Endocardial fibrosis, Dilated cardiomyopathy, Left ventricular hy... |
OMIM:601493 |
| Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Limb hypertonia, Aortic aneurysm, Atrial septal defect, Urinary incontinence, Pericardial effusio... |
OMIM:620070 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Pulmonic stenosis, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Hypoplas... |
OMIM:600001 |
| Recombinant Chromosome 8 Syndrome |
|
Hydronephrosis, Camptodactyly, Pulmonic stenosis, Atrial septal defect, Tetralogy of Fallot, Vent... |
OMIM:179613 |
| Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Pulmonary embolism, Cerebral hemorrhage |
OMIM:614514 |
| Cirrhotic Cardiomyopathy |
|
Left ventricular diastolic dysfunction, Third heart sound, Global systolic dysfunction, Reduced l... |
ORPHA:57777 |
| Neurodevelopmental Disorder And Language Delay With Or Without Structural Brain Abnormalities |
|
Muscular ventricular septal defect, Atrial septal defect |
OMIM:618354 |
| Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Tarsal synostosis, Posterior fusion of lumbosacral vertebrae, Sacral dimple, Abnormal form of the... |
ORPHA:2064 |
| Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Pulmonary artery dilatation, Pulmonary arterial hypertension, Thoracic aortic aneurysm, Aortic ar... |
OMIM:613834 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Hypoplastic left heart, Tetralogy of Fallot, Hypoplastic aortic arch, Ventricular septal defect, ... |
OMIM:265380 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Death in childhood, Pulmonary arterial hypertension, Death in infancy |
OMIM:619064 |
| Diabetic Embryopathy |
|
Hydronephrosis, Aplasia/Hypoplasia of the abdominal wall musculature, Micropenis, Tetralogy of Fa... |
ORPHA:1926 |
| 46,Xx Sex Reversal 5 |
|
Secundum atrial septal defect, Hypoplastic left heart, Aplasia of the left hemidiaphragm, Ventric... |
OMIM:618901 |
| Fanconi Anemia, Complementation Group O |
|
Hydronephrosis, Small thenar eminence, Stage 5 chronic kidney disease, Renal cyst, Abnormal heart... |
OMIM:613390 |
| Surfactant Metabolism Dysfunction, Pulmonary, 5 |
|
Dyspnea, Respiratory insufficiency, Interlobular septal thickening, Intraalveolar phospholipid ac... |
OMIM:614370 |
| Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Hydronephrosis, Abnormality of the urinary system |
ORPHA:2669 |
| Acrocardiofacial Syndrome |
|
Camptodactyly of finger, Coarctation of aorta, Atrial septal defect, Tetralogy of Fallot, Ventric... |
ORPHA:2008 |
| Chondrodysplasia, Blomstrand Type |
|
Preductal coarctation of the aorta, Generalized osteosclerosis, Short ribs, Advanced ossification... |
OMIM:215045 |
| Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Hypoplastic left hea... |
OMIM:604169 |
| Congenital Megacalycosis |
|
Recurrent urinary tract infections, Hydronephrosis, Abnormal renal physiology, Enlarged kidney, R... |
ORPHA:93109 |
| Aortic Arch Interruption |
|
Left ventricular hypertrophy, Ventricular septal defect, Abnormal ascending aorta morphology, Aor... |
ORPHA:2299 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Pulmonary arterial hypertension |
OMIM:619059 |
| Diffuse Cutaneous Systemic Sclerosis |
|
Pulmonary arterial hypertension, Dyspnea, Pulmonary fibrosis, Congestive heart failure, Telangiec... |
ORPHA:220393 |
| Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Hydronephrosis, Hydroureter, Ureteropelvic junction obstruction, Congenital megaureter, Renal ins... |
OMIM:143400 |
| Ring Chromosome 8 Syndrome |
|
Abnormality of the ureter, Hydronephrosis |
ORPHA:1450 |
| Cardiomyopathy, Dilated, 1Gg |
|
Left ventricular noncompaction, Dilated cardiomyopathy |
OMIM:613642 |
| Dilated Cardiomyopathy With Ataxia |
|
Perineal hypospadias, Hypoplasia of penis, Muscular ventricular septal defect, Dilated cardiomyop... |
ORPHA:66634 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Pulmonary arterial hypertension |
OMIM:300887 |
| Hypoplastic Left Heart Syndrome 2 |
|
Mitral atresia, Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect |
OMIM:614435 |
| Holt-Oram Syndrome |
|
Down-sloping shoulders, Pectus excavatum, Joint stiffness, Hypoplastic left heart, Ventricular se... |
ORPHA:392 |
| Acute Interstitial Pneumonia |
|
Reticulonodular pattern on pulmonary HRCT, Dyspnea, Tachypnea, Atelectasis, Decreased DLCO, Inter... |
ORPHA:79126 |
| Spastic Paraplegia Type 2 |
|
Recurrent respiratory infections, Pulmonary embolism |
ORPHA:99015 |
| Emanuel Syndrome |
|
Micropenis, Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Unilateral renal ... |
ORPHA:96170 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Abnormal rib morphology, Pectus carinatum, Radioulnar synostosis |
ORPHA:3268 |
| Sprengel Deformity |
|
Scoliosis, Hemivertebrae, Cervical segmentation defect, Rib segmentation abnormalities, Spina bif... |
OMIM:184400 |
| Heart And Brain Malformation Syndrome |
|
Camptodactyly of finger, Interrupted aortic arch, Ventricular septal defect |
OMIM:616920 |
| Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Pulmonary arterial hypertension, Recurrent upper respiratory tract infections |
ORPHA:391372 |
| Aortic Aneurysm, Familial Thoracic 4 |
|
Stroke, Descending aortic dissection, Posterior cerebral artery stenosis, Thoracic aortic aneurys... |
OMIM:132900 |
| Absence Of The Pulmonary Artery |
|
Abnormal EKG, Pulmonary arterial hypertension, Dyspnea, Systolic heart murmur, Recurrent respirat... |
ORPHA:980 |
| Surfactant Metabolism Dysfunction, Pulmonary, 4 |
|
Decreased DLCO, Restrictive ventilatory defect, Reduced forced expiratory volume in one second, R... |
OMIM:300770 |
| Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology, Abnorma... |
ORPHA:2790 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Secundum atrial septal defect, Pulmonary artery atresia, Ventricular septal defect, Left ventricu... |
OMIM:108900 |
| Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Coarctation of aorta, Hypoplastic left heart |
OMIM:241550 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Muscular ventricular septal defect, Unilateral renal agenesis, Renal agenesis |
OMIM:619227 |
| Erythrocytosis, Familial, 2 |
|
Hypotension, Pulmonary arterial hypertension, Cerebral hemorrhage |
OMIM:263400 |
| Cardiac-Urogenital Syndrome |
|
Dysplastic tricuspid valve, Tracheomalacia, Mesocardia, Dextrocardia, Hypoplastic left heart, Tet... |
OMIM:618280 |
| Velocardiofacial Syndrome |
|
Pulmonary artery atresia, Right aortic arch with mirror image branching, Tetralogy of Fallot, Umb... |
OMIM:192430 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Hypoplasia of right ventricle, Pulmonic stenosis, Tetralogy of Fallot, Ventricular septal defect,... |
ORPHA:2255 |
| Waardenburg Syndrome Type 2 |
|
Abnormality of the pulmonary artery |
ORPHA:895 |
| Hurler-Scheie Syndrome |
|
Recurrent respiratory infections, Pulmonary arterial hypertension, Mitral regurgitation, Aortic r... |
OMIM:607015 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Pulmonary artery atresia, Congenitally corrected transposition of the great arteries with ventric... |
OMIM:617205 |
| 16P13.11 Microduplication Syndrome |
|
Coarctation of aorta, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Trans... |
ORPHA:261243 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Hypertrophic cardiomyopathy, Pulmonary arterial hypertension, Tricuspid regurgitation |
OMIM:619051 |
| Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect |
OMIM:209770 |
| Congenital Alveolar Capillary Dysplasia |
|
Hydronephrosis, Hypoplastic left heart, Atrial septal defect, Tetralogy of Fallot, Atrioventricul... |
ORPHA:210122 |
| Aorto-Ventricular Tunnel |
|
Abnormal coronary artery morphology, Aortic root aneurysm, Abnormal heart valve morphology, Ventr... |
ORPHA:3400 |
| Diffuse Alveolar Hemorrhage |
|
Dyspnea, Increased DLCO, Restrictive ventilatory defect, Cough, Hypoxemia, Pulmonary venous hyper... |
ORPHA:90060 |
| Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
| Congenital Pseudoarthrosis Of The Clavicle |
|
Congenital pseudoarthrosis of the clavicle, Situs inversus totalis, Dextrocardia, Osteoarthritis,... |
ORPHA:66630 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Pulmonary arterial hypertension, Respiratory insufficiency, Hypertension, Second degree atriovent... |
OMIM:617021 |
| Macdermot-Winter Syndrome |
|
Hydronephrosis, Camptodactyly of finger |
OMIM:247990 |
| Renal Hypoplasia |
|
Recurrent urinary tract infections, Hydronephrosis, Proteinuria, Abnormal renal morphology, Vesic... |
ORPHA:93101 |
| Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
| Fixed Subaortic Stenosis |
|
Dyspnea, Mitral regurgitation, Systolic heart murmur, Pulmonic stenosis, Paroxysmal atrial fibril... |
ORPHA:3092 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Dyspnea, Atelectasis, Restrictive ventilatory defect, Hypersensitivity pneumonitis, Hypoxemia, Cr... |
ORPHA:2902 |
| Heterotaxy, Visceral, 6, Autosomal |
|
Situs inversus totalis, Dextrocardia, Hypoplastic left heart, Right aortic arch, Total anomalous ... |
OMIM:614779 |
| Familial Thrombocytosis |
|
Pulmonary arterial hypertension, Syncope, Transient ischemic attack, Cerebral ischemia, Periphera... |
ORPHA:71493 |
| Familial Aortic Dissection |
|
Stroke, Descending aortic dissection, Aortic root aneurysm, Mucoid extracellular matrix accumulat... |
ORPHA:229 |
| Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Coarctation of aorta, Subvalvular aortic stenosis, Complete atrioventricular canal defect |
OMIM:217085 |
| Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Supraumbilical raphe, Bifid sternum, Coarctation of aorta, Right aortic arch |
OMIM:140850 |
| Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Coarctation of aorta, Perimembranous ventricular septal defect |
OMIM:212090 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Pulmonary arterial hypertension, Coarctation of aorta, Tachypnea |
OMIM:614857 |
| Craniofacioskeletal Syndrome |
|
Ventricular septal defect, Atrial septal defect, Shield chest, Interrupted aortic arch, Patent du... |
OMIM:300712 |
| Sotos Syndrome |
|
Abnormality of the kidney, Atrial septal defect, Ventricular septal defect, Muscular ventricular ... |
OMIM:117550 |
| Tempi Syndrome |
|
Hypoxemia, Intracranial hemorrhage, Transudative pleural effusion, Telangiectasia, Abnormality of... |
ORPHA:284227 |
| Phaver Syndrome |
|
Pulmonary artery atresia, Camptodactyly of finger, Coarctation of aorta, Joint stiffness, Myelome... |
ORPHA:2876 |
| Bare Lymphocyte Syndrome, Type I |
|
Chronic sinusitis, Bronchiolitis, Bronchiectasis, Emphysema, Recurrent bronchitis |
OMIM:604571 |
| Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:235750 |
| Ciliary Dyskinesia, Primary, 40 |
|
Situs inversus totalis, Congenitally corrected transposition of the great arteries, Right aortic ... |
OMIM:618300 |
| Lymphoid Interstitial Pneumonia |
|
Raynaud phenomenon, Dyspnea, Decreased DLCO, Restrictive ventilatory defect, Cough, Subpleural in... |
ORPHA:79128 |
| Overlap Myositis |
|
Raynaud phenomenon, Pulmonary arterial hypertension, Hypertension, Abnormal pulmonary interstitia... |
ORPHA:206572 |
| Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Pulmonary arterial hypertension, Respiratory insufficiency, Death in infancy, Neonatal death, Res... |
OMIM:605711 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Hydronephrosis, Dextrocardia, Enlarged kidney, Atrioventricular canal defect, Urethral atresia, P... |
OMIM:314390 |
| Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Abnormal cardiac septum morphology, Coarctation of aorta, Patent ductus arteriosus, Neonatal death |
OMIM:601612 |
| Immunodeficiency, Common Variable, 6 |
|
Hydronephrosis, Glomerulonephritis, Stage 5 chronic kidney disease, Enlarged kidney, Macroscopic ... |
OMIM:613496 |
| Mixed Connective Tissue Disease |
|
Myocarditis, Pulmonary arterial hypertension, Dyspnea, Pleuritis, Pulmonary fibrosis, Gastrointes... |
ORPHA:809 |
| Urofacial Syndrome 2 |
|
Recurrent urinary tract infections, Hydronephrosis, Enuresis, Spastic/hyperactive bladder, Megacy... |
OMIM:615112 |
| Catastrophic Antiphospholipid Syndrome |
|
Myocarditis, Pulmonary arterial hypertension, Pulmonary embolism, Transient ischemic attack, Angi... |
ORPHA:464343 |
| Hereditary Hemorrhagic Telangiectasia |
|
Subarachnoid hemorrhage, Pulmonary arterial hypertension, Cerebral hemorrhage, Retinal telangiect... |
ORPHA:774 |
| Encephalocraniocutaneous Lipomatosis |
|
Craniofacial hyperostosis, Osteolysis, Coarctation of aorta, Tricuspid valve prolapse, Interrupte... |
ORPHA:2396 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Desquamative interstitial pneumonitis, Hypoxemia, Usual interstitial pneumonia, Respiratory failu... |
OMIM:610921 |
| Alpha-2-Plasmin Inhibitor Deficiency |
|
Hemothorax, Joint hemorrhage |
OMIM:262850 |
| Atrial Septal Defect 1 |
|
Secundum atrial septal defect, Ventricular septal defect, Atrial septal defect, Atrial septal dil... |
OMIM:108800 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Neonatal respiratory distress, Oxygen desaturation on exertion, Recurrent respiratory infections,... |
OMIM:610978 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Hydronephrosis, Coarctation of aorta, Atrial septal defect, Ventricular septal defect, Unilateral... |
OMIM:618494 |
| Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Camptodactyly, Pulmonic stenosis, Ventricular septal defect, Atrial septal defect, Arthrogryposis... |
OMIM:614262 |
| Kyphomelic Dysplasia |
|
Joint stiffness, Lateral clavicle hook, Missing ribs, Anterior rib cupping, Undulate ribs, Narrow... |
ORPHA:1801 |
| Tetrasomy 5P |
|
Recurrent respiratory infections, Pulmonary arterial hypertension, Pulmonary hypoplasia, Respirat... |
ORPHA:3309 |
| Duodenal Atresia |
|
Abnormality of the pulmonary artery |
ORPHA:1203 |
| Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Emphysema |
OMIM:614100 |
| Left Ventricular Noncompaction 8 |
|
Left ventricular noncompaction, Dilated cardiomyopathy |
OMIM:615373 |
| Birt-Hogg-Dubé Syndrome |
|
Pulmonary sequestration, Emphysema, Pneumothorax |
ORPHA:122 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Hypoplastic left heart, Enlarged kidney, Atrial septal defect, Ventricular septal defect, Atriove... |
OMIM:306955 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Lip telangiectasia, Hypoxemia, Nasal mucosa telangiectasia, Transient ischemic attack, Palate tel... |
OMIM:187300 |
| Grange Syndrome |
|
Arterial stenosis, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:79094 |
| Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
| Primary Pulmonary Hypoplasia |
|
Neonatal respiratory distress, Recurrent respiratory infections, Restrictive ventilatory defect, ... |
ORPHA:2257 |
| Hinman Syndrome |
|
Recurrent urinary tract infections, Hydronephrosis, Enuresis, Renal insufficiency, Vesicoureteral... |
ORPHA:84085 |
| Mckusick-Kaufman Syndrome |
|
Hydronephrosis, Hypoplastic left heart, Atrial septal defect, Tetralogy of Fallot, Ventricular se... |
ORPHA:2473 |
| Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Bradycardia, Pulmonary arterial hypertension, Respiratory distress |
OMIM:619272 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Aspiration, Pulmonary arterial hypertension, Reduced left ventricular ejection fraction, Atelecta... |
ORPHA:258 |
| X-Linked Intellectual Disability, Schimke Type |
|
Hydronephrosis, Knee flexion contracture, Ankle flexion contracture, Hip contracture, Vesicourete... |
ORPHA:85285 |
| Criss-Cross Heart |
|
Pulmonic stenosis, Ventricular septal defect, Abnormal mitral valve morphology, Tricuspid stenosi... |
ORPHA:1461 |
| Cardiac Valvular Dysplasia 2 |
|
Pulmonary artery dilatation, Left ventricular diastolic dysfunction, Systolic heart murmur, Pulmo... |
OMIM:620067 |
| Synaptic Congenital Myasthenic Syndromes |
|
Neonatal respiratory distress, Pulmonary arterial hypertension, Respiratory insufficiency, Recurr... |
ORPHA:98915 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Death in childhood, Pulmonary arterial hypertension, Hypertension, Death in infancy, Tachypnea |
OMIM:613320 |
| Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Pulmonary embolism |
ORPHA:745 |
| Urofacial Syndrome 1 |
|
Recurrent urinary tract infections, Hydronephrosis, Enuresis, Hydroureter, Urethral valve, Urethr... |
OMIM:236730 |
| Alpha-1-Antitrypsin Deficiency |
|
Emphysema |
ORPHA:60 |
| Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Coarctation of aorta, Ventricular septal defect, Patent foramen ovale, Patent ductus arteriosus, ... |
OMIM:610338 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Hypoplastic left heart, Ventricular septal defect, Abnormal rib morphology, Decreased calvarial o... |
ORPHA:2772 |
| Kagami-Ogata Syndrome |
|
Pulmonary hypoplasia, Pulmonary arterial hypertension, Pulmonic stenosis |
OMIM:608149 |
| Pulmonary Alveolar Proteinosis, Acquired |
|
Inspiratory crackles, Recurrent respiratory infections, Dyspnea, Lung abscess, Decreased DLCO, Re... |
OMIM:610910 |
| Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Neonatal respiratory distress, Pulmonary arterial hypertension, Aortic root aneurysm, Pulmonary h... |
OMIM:620025 |
| Cardiogenic Shock |
|
Cardiac arrest, Abnormal EKG, ST segment elevation, Dyspnea, Mitral regurgitation, Hypotension, E... |
ORPHA:97292 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Pulmonary arterial hypertension, Intracranial hemorrhage, Hypertension, Second degree atrioventri... |
ORPHA:369929 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Lip telangiectasia, Facial telangiectasia, Transient ischemic attack, Nasal mucosa telangiectasia... |
OMIM:600376 |
| Adams-Oliver Syndrome |
|
Pulmonary artery atresia, Pulmonary arterial hypertension, Gastrointestinal hemorrhage, Portal hy... |
ORPHA:974 |
| 6P22 Microdeletion Syndrome |
|
Hydronephrosis, Patent ductus arteriosus |
ORPHA:251046 |
| Cardioacrofacial Dysplasia 1 |
|
Atrioventricular canal defect, Complete atrioventricular canal defect |
OMIM:619142 |
| Distal Triplication 15Q |
|
Polycystic kidney dysplasia, Camptodactyly, Abnormality of the kidney, Hydronephrosis, Dilatation... |
ORPHA:314588 |
| Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Atelectasis, Pulmonary fibrosis, Bronchiolitis, Right bundle branch block, Exertional dyspnea |
ORPHA:254361 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Aortic atherosclerotic lesion, Mitral regurgitation, Aortic root aneurysm, Intracranial hemorrhag... |
ORPHA:363618 |
| Prune Belly Syndrome |
|
Hydronephrosis, Aplasia of the abdominal wall musculature, Hydroureter, Congenital posterior uret... |
OMIM:100100 |
| 1Q21.1 Microdeletion Syndrome |
|
Patent ductus arteriosus, Joint hyperflexibility, Abnormal cardiac septum morphology, Interrupted... |
ORPHA:250989 |
| Bronchogenic Cyst |
|
Dyspnea, Atelectasis, Cough, Abnormal pleura morphology, Bronchogenic cyst, Pulmonary cyst, Pneum... |
ORPHA:2357 |
| Cat Eye Syndrome |
|
Hydronephrosis, Hypoplastic left heart, Pulmonic stenosis, Atrial septal defect, Tetralogy of Fal... |
OMIM:115470 |
| Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Recurrent urinary tract infections, Hydronephrosis, Stage 2 chronic kidney disease, Neurogenic bl... |
OMIM:191800 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Thoracic aortic aneurysm, Respiratory failure requiring assisted ventilation, Pulmonary hypoplasi... |
OMIM:619351 |
| Congenital Myopathy 19 |
|
Hydronephrosis, Skeletal muscle atrophy, Renal atrophy, Congenital contracture, Facial hypotonia |
OMIM:618578 |
| Scleroderma |
|
Myocarditis, Raynaud phenomenon, Pulmonary arterial hypertension, Dyspnea, Pericarditis, Syncope,... |
ORPHA:801 |
| Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Emphysema |
OMIM:618307 |
| Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Varicose veins, Peripheral arterial stenosis, Patent ductus arteriosus, Ventricular septal defect |
OMIM:126320 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure |
OMIM:613845 |
| Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia |
ORPHA:306550 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Contracture of the proximal interphalangeal joint of the 5th finger, Hydronephrosis, Pulmonic ste... |
OMIM:620141 |
| Cutis Laxa-Marfanoid Syndrome |
|
Emphysema |
ORPHA:171719 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Atrioventricular canal defe... |
ORPHA:508498 |
| Aortic Aneurysm, Familial Thoracic 10 |
|
Pectus excavatum, Fusiform ascending tubular aorta aneurysm, Aortic root aneurysm, Left ventricul... |
OMIM:617168 |
| Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Muscular ventricular septal defect, Intrinsic hand muscle atrophy |
OMIM:618569 |
| Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
|
Portal hypertension, Emphysema |
OMIM:210050 |
| Brain-Lung-Thyroid Syndrome |
|
Neonatal respiratory distress, Pulmonary arterial hypertension, Recurrent respiratory infections,... |
ORPHA:209905 |
| Xanthinuria, Type I |
|
Hydronephrosis, Pyelonephritis, Myopathy, Xanthine nephrolithiasis, Xanthinuria |
OMIM:278300 |
| Renal Dysplasia |
|
Enlarged kidney, Abnormal renal calyx morphology, Hydroureter, Abnormal nephron morphology, Multi... |
ORPHA:93108 |
| Craniofaciofrontodigital Syndrome |
|
Pulmonary arterial hypertension, Dyspnea, Mitral regurgitation, Coarctation of aorta, Arrhythmia,... |
ORPHA:363705 |
| 3C Syndrome |
|
Hydronephrosis, Hypoplastic left heart, Pulmonic stenosis, Atrial septal defect, Tetralogy of Fal... |
ORPHA:7 |
| Sillence Syndrome |
|
Scoliosis, Broad thumb, Brachydactyly, Broad metatarsal, Camptodactyly, Flat acetabular roof, Lar... |
ORPHA:3168 |
| Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Pulmonary artery atresia |
OMIM:613759 |
| Alg12-Cdg |
|
Camptodactyly, Micropenis, Biventricular hypertrophy, Muscular ventricular septal defect, Patent ... |
ORPHA:79324 |
| 19P13.3 Microduplication Syndrome |
|
Pulmonary arterial hypertension |
ORPHA:447980 |
| Serkal Syndrome |
|
Hypoplasia of the bladder, Pulmonic stenosis, Ventricular septal defect, Abnormal penis morpholog... |
ORPHA:139466 |
| Cirrhosis, Familial |
|
Pulmonary arterial hypertension, Hypertension |
OMIM:215600 |
| Schimke Immuno-Osseous Dysplasia |
|
Pulmonary arterial hypertension, Ischemic stroke, Hypertension, Transient ischemic attack, Conges... |
ORPHA:1830 |
| Cat-Eye Syndrome |
|
Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia |
ORPHA:195 |
| Chromosome 1P36 Deletion Syndrome, Proximal |
|
Camptodactyly, Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Complete atrio... |
OMIM:619343 |
| Aortic Valve Disease 3 |
|
Aortic root aneurysm, Atrial septal defect, Bicuspid aortic valve, Aortic valve stenosis, Ascendi... |
OMIM:618496 |
| Isolated Klippel-Feil Syndrome |
|
Spina bifida, Ventricular septal defect, Abnormal rib morphology, Abnormal vertebral segmentation... |
ORPHA:2345 |
| Trisomy 17P |
|
Macroglossia, Polycystic kidney dysplasia, Hydronephrosis, Hypoplastic left heart, Skeletal muscl... |
ORPHA:261290 |
| Schimke Immunoosseous Dysplasia |
|
Pulmonary arterial hypertension, Dyspnea, Arteriosclerosis, Hypertension, Transient ischemic atta... |
OMIM:242900 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Atrial septal defect, Horseshoe kidney, Renal hypoplasia/aplasia, Renal dysplasia, Congenital mus... |
ORPHA:2538 |
| Meacham Syndrome |
|
Dextrocardia, Coarctation of aorta, Hypoplastic left heart, Right aortic arch, Tetralogy of Fallo... |
OMIM:608978 |
| 10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal rib morphology, Abnormal clavicle morphology, Tetralogy of Fallot |
ORPHA:276422 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Ventricular septal defect, Atrial septal defect, Intracranial hemorrhage, Interrupted aortic arch... |
ORPHA:163979 |
| Craniodiaphyseal Dysplasia |
|
Abnormal rib morphology, Craniofacial hyperostosis |
ORPHA:1513 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Coarctation of aorta, Interrupted aortic arch, Patent foramen ovale, Patent ductus arteriosus, Hy... |
ORPHA:17 |
| Vesicoureteral Reflux 3 |
|
Recurrent urinary tract infections, Hydronephrosis, Grade IV vesicoureteral reflux, Hydroureter, ... |
OMIM:613674 |
| Nephrotic Syndrome, Type 11 |
|
Renal tubular atrophy, Proteinuria, Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, ... |
OMIM:616730 |
| Metatropic Dysplasia |
|
Camptodactyly of finger, Joint stiffness, Abnormal cortical bone morphology, Long thorax, Abnorma... |
ORPHA:2635 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Multiple muscular ventricular septal defects, Pulmonic stenosis |
OMIM:615508 |
| Congenital Rubella Syndrome |
|
Abnormality of the pulmonary artery |
ORPHA:290 |
| Suleiman-El-Hattab Syndrome |
|
Atrial septal defect, Hydronephrosis, Patent foramen ovale, Ventricular septal defect |
OMIM:618950 |
| Primary Ciliary Dyskinesia |
|
Neonatal respiratory distress, Recurrent sinopulmonary infections, Chronic sinusitis, Atelectasis... |
ORPHA:244 |
| Trisomy 13 |
|
Hydronephrosis, Atrial septal defect, Ventricular septal defect, Abnormality of the ureter, Multi... |
ORPHA:3378 |
| Osteogenesis Imperfecta, Type Iii |
|
Pulmonary arterial hypertension |
OMIM:259420 |
| Systemic Sclerosis |
|
Myocarditis, Raynaud phenomenon, Pulmonary arterial hypertension, Dyspnea, Nail bed telangiectasi... |
ORPHA:90291 |
| Sarcoidosis, Susceptibility To, 1 |
|
Pulmonary arterial hypertension, Dyspnea, Restrictive ventilatory defect, Cough, Hypoxemia, Pulmo... |
OMIM:181000 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Pulmonary arterial hypertension, Neonatal death, Respiratory distress, Central apnea, Congestive ... |
OMIM:616482 |
| Aortic Arch Anomaly With Peculiar Facies And Mental Retardation |
|
Right aortic arch with mirror image branching |
OMIM:107500 |
| Gaucher Disease Type 1 |
|
Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology |
ORPHA:77259 |
| Dextrocardia |
|
Abnormal EKG, Abnormal pulmonary situs morphology, T-wave inversion, Abnormality of the pulmonary... |
ORPHA:1666 |
| Encephalocraniocutaneous Lipomatosis |
|
Hydronephrosis, Atrial septal defect, Ventricular septal defect, Subvalvular aortic stenosis, Per... |
OMIM:613001 |
| Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Pulmonary embolism |
ORPHA:743 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Coarctation of aorta, Spina bifida, Atrial septal defect, Atrioventricular canal defect, Abnormal... |
ORPHA:1120 |
| Thakker-Donnai Syndrome |
|
Hydronephrosis, Tetralogy of Fallot, Ventricular septal defect, Congenital diaphragmatic hernia, ... |
ORPHA:1780 |
| Posterior Urethral Valve |
|
Recurrent urinary tract infections, Enuresis nocturna, Unilateral renal dysplasia, Hydronephrosis... |
ORPHA:93110 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Pulmonary arterial hypertension, Hypertension, Second degree atrioventricular block |
OMIM:615474 |
| Congenital Disorder Of Glycosylation, Type It |
|
Pulmonary arterial hypertension, Dyspnea, Coarctation of aorta, Aborted sudden cardiac death, Sud... |
OMIM:614921 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Ventricular septal defect, Abnormal rib morphology, Narrow chest, Abnormal clavicle morphology, D... |
ORPHA:93267 |
| Wolfram Syndrome 1 |
|
Hydronephrosis, Neurogenic bladder, Hydroureter, Cardiomyopathy, Stroke-like episode |
OMIM:222300 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Recurrent pneumonia, Pulmonary arterial hypertension |
OMIM:616449 |
| Aortic Valve Disease 2 |
|
Coarctation of aorta, Pulmonic stenosis, Aortic aneurysm, Calcification of the aorta, Bicuspid ao... |
OMIM:614823 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Recurrent respiratory infections, Pulmonary arterial hypertension, Mitral regurgitation, Coarctat... |
ORPHA:99125 |
| Geleophysic Dysplasia 2 |
|
Pulmonary arterial hypertension, Mitral regurgitation, Respiratory insufficiency, Aortic valve st... |
OMIM:614185 |
| 9Q21.13 Microdeletion Syndrome |
|
Hydronephrosis, Abnormal heart morphology |
ORPHA:531151 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
Recurrent urinary tract infections, Camptodactyly of finger, Atrial septal defect, Aortic aneurys... |
ORPHA:261330 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Pulmonary arterial hypertension |
ORPHA:2519 |
| X-Linked Mandibulofacial Dysostosis |
|
Abnormality of the pulmonary artery, Pulmonic stenosis |
ORPHA:1131 |
| Grant Syndrome |
|
Abnormal cortical bone morphology, Abnormality of the glenoid fossa, Abnormal rib morphology, Nar... |
ORPHA:2097 |
| Cooper-Jabs Syndrome |
|
Reduced bone mineral density, Camptodactyly of finger, Ventricular septal defect, Missing ribs, U... |
ORPHA:1488 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hydronephrosis, Micropenis, Ventricular septal defect, Hypertrophic cardiomyopathy, Flexion contr... |
OMIM:616897 |
| Adams-Oliver Syndrome 5 |
|
Pulmonary arterial hypertension, Pulmonic stenosis |
OMIM:616028 |
| Igg4-Related Aortitis |
|
Abnormal common carotid artery morphology, Hydronephrosis, Thoracic aortic aneurysm, Dilated left... |
ORPHA:449400 |
| Image Syndrome |
|
Hydronephrosis, Hypospadias |
ORPHA:85173 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Hydronephrosis, Pulmonary artery atresia, Vesicoureteral reflux, Micropenis, Pulmonic stenosis, V... |
OMIM:301056 |
| Trisomy 1Q |
|
Hydronephrosis, Camptodactyly of finger, Ventricular septal defect, Congenital megaureter, Patent... |
ORPHA:261344 |
| Poems Syndrome |
|
Restrictive ventilatory defect, Respiratory insufficiency due to muscle weakness, Pulmonary arter... |
ORPHA:2905 |
| Osteogenesis Imperfecta, Type Ix |
|
Pectus excavatum, Beaded ribs, Multiple prenatal fractures, Bowing of limbs due to multiple fract... |
OMIM:259440 |
| Pseudotrisomy 13 Syndrome |
|
Dextrocardia, Coarctation of aorta, Micropenis, Atrial septal defect, Ventricular septal defect, ... |
OMIM:264480 |
| Noonan Syndrome 4 |
|
Hydronephrosis, Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Ureteral dupl... |
OMIM:610733 |
| Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Hydronephrosis, Patent ductus arteriosus |
OMIM:619797 |
| Feingold Syndrome 1 |
|
Ventricular septal defect, Interrupted aortic arch, Patent ductus arteriosus, Tricuspid stenosis,... |
OMIM:164280 |
| Laubry-Pezzi Syndrome |
|
Dilatation of the sinus of Valsalva, Right ventricular outlet tract obstruction, Palpitations, Ao... |
ORPHA:99094 |
| Dermatomyositis |
|
Myocarditis, Recurrent respiratory infections, Pulmonary arterial hypertension, Vasculitis, Respi... |
ORPHA:221 |
| Ochoa Syndrome |
|
Recurrent urinary tract infections, Hydronephrosis, Urinary incontinence, Renal insufficiency, Ur... |
ORPHA:2704 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Situs inversus totalis, Pectus excavatum, Dextrocardia, Vertebral fusion, Myelomeningocele, Missi... |
OMIM:613686 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Atrial septal defect, Ventricular septal defect, Overriding aorta, Patent ductus arteriosus, Vasc... |
OMIM:601927 |
| White Forelock With Malformations |
|
Atrial septal defect, Abnormal rib morphology, Spina bifida occulta, Sprengel anomaly, Joint hype... |
ORPHA:2475 |
| Kury-Isidor Syndrome |
|
Hydronephrosis, Ventricular septal defect |
OMIM:619762 |
| Cardiospondylocarpofacial Syndrome |
|
Dysplastic tricuspid valve, Atrial septal defect, Ventricular septal defect, Hypoplastic aortic a... |
OMIM:157800 |
| Meacham Syndrome |
|
Situs inversus totalis, Conotruncal defect, Coarctation of aorta, Hypoplastic left heart, Tetralo... |
ORPHA:3097 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Ventricular septal defect, Renal insufficiency, Renal corticomedullary cysts, Vascular dilatation... |
OMIM:219730 |
| Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Abnormal tricuspid valve morphology, Abnormal aortic morphology, Ventricular septal defect |
ORPHA:3405 |
| Hereditary Xanthinuria |
|
Recurrent urinary tract infections, Hydronephrosis, Acute kidney injury, Uric acid nephrolithiasi... |
ORPHA:3467 |
| Marden-Walker Syndrome |
|
Situs inversus totalis, Camptodactyly of finger, Abnormality of the kidney, Ventricular septal de... |
ORPHA:2461 |
| Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Atrial septal defect, Hydronephrosis, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:457193 |
| Fanconi Renotubular Syndrome 5 |
|
Decreased DLCO, Hypertension, Pulmonary fibrosis, Emphysema, Lung adenocarcinoma |
OMIM:618913 |
| Mucopolysaccharidosis, Type Vi |
|
Pulmonary arterial hypertension, Mitral regurgitation, Restrictive ventilatory defect, Sinus tach... |
OMIM:253200 |
| Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Hydronephrosis |
OMIM:235760 |
| Ciliary Dyskinesia, Primary, 37 |
|
Situs inversus totalis, Dextrocardia, Right aortic arch |
OMIM:617577 |
| Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Abnormal rib morphology, Joint hypermobility, Pectus excavatum, Hypoplastic distal segments of sc... |
OMIM:602196 |
| Carpenter Syndrome 1 |
|
Hydronephrosis, Camptodactyly, Pulmonic stenosis, Atrial septal defect, Tetralogy of Fallot, Vent... |
OMIM:201000 |
| Zaki Syndrome |
|
Hydronephrosis, Patent foramen ovale, Patent ductus arteriosus, Congenital diaphragmatic hernia, ... |
OMIM:619648 |
| Czeizel-Losonci Syndrome |
|
Hydronephrosis, Dextrocardia, Aplasia of the left hemidiaphragm, Congenital megaureter, Posterola... |
ORPHA:2437 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Thoracic hypoplasia, Coat hanger sign of ribs, Ventricular septal defect, Umbilical hernia, Abnor... |
ORPHA:254534 |
| 17Q23.1Q23.2 Microdeletion Syndrome |
|
Pulmonary arterial hypertension, Dyspnea |
ORPHA:261279 |
| Charge Syndrome |
|
Abnormality of bone mineral density, Tetralogy of Fallot, Aortic arch aneurysm, Interrupted aorti... |
ORPHA:138 |
| Duane-Radial Ray Syndrome |
|
Hydronephrosis, Small thenar eminence, Vesicoureteral reflux, Atrial septal defect, Ventricular s... |
OMIM:607323 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect, Knee flexion contracture, Thoracic scoliosis, Va... |
OMIM:603387 |
| Kleefstra Syndrome |
|
Macroglossia, Hydronephrosis, Coarctation of aorta, Micropenis, Tetralogy of Fallot, Ventricular ... |
ORPHA:261494 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Recurrent respiratory infections, Pulmonary arterial hypertension, Mitral regurgitation, Tricuspi... |
ORPHA:505248 |
| Cardiac Diverticulum |
|
Abnormality of the diaphragm, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defec... |
ORPHA:1686 |
| Achondrogenesis Type 1B |
|
Umbilical hernia, Abnormal enchondral ossification, Abnormal rib morphology, Narrow chest, Short ... |
ORPHA:93298 |
| Ciliary Dyskinesia, Primary, 1 |
|
Chronic sinusitis, Atelectasis, Chronic rhinitis, Bronchiectasis, Pneumonia, Immotile cilia, Recu... |
OMIM:244400 |
| Mosaic Trisomy 9 |
|
Hydronephrosis, Camptodactyly of finger, Dextrocardia, Atrial septal defect, Ventricular septal d... |
ORPHA:99776 |
| Isotretinoin-Like Syndrome |
|
Conotruncal defect, Abnormality of the pulmonary veins, Abnormal cardiac atrium morphology, Abnor... |
ORPHA:2306 |
| Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Recurrent respiratory infections, Pulmonary arterial hypertension, Hypoxemia |
ORPHA:2282 |
| Vacterl/Vater Association |
|
Hydronephrosis, Ectopic kidney, Hypoplasia of penis, Abnormality of the urethra, Congenital diaph... |
ORPHA:887 |
| Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Mitral valve prolapse, Ureteral triplication, Patent ductus arteriosus, Hydronephrosis |
OMIM:104350 |
| Orofaciodigital Syndrome Xv |
|
Hydronephrosis |
OMIM:617127 |
| Femoral-Facial Syndrome |
|
Polycystic kidney dysplasia, Abnormal renal collecting system morphology, Micropenis, Pulmonic st... |
OMIM:134780 |
| Nestor-Guillermo Progeria Syndrome |
|
Pulmonary arterial hypertension, Dyspnea, Mitral regurgitation, Sinus tachycardia, Hypertension, ... |
OMIM:614008 |
| Penile Agenesis |
|
Hydronephrosis, Atrial septal defect, Ventricular septal defect, Hydroureter, Urethral fistula, F... |
ORPHA:49 |
| Fg Syndrome Type 1 |
|
Pulmonary arterial hypertension, Coarctation of aorta |
ORPHA:93932 |
| Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Pulmonary arterial hypertension, Central sleep apnea, Obstructive sleep apnea, Stridor, Prolonged... |
OMIM:620029 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Camptodactyly, Coarctation of aorta, Atrial septal defect, Perimembranous ventricular septal defe... |
OMIM:612474 |
| Stuve-Wiedemann Syndrome 1 |
|
Pulmonary arterial hypertension, Respiratory insufficiency, Pulmonary hypoplasia, Apnea, Pulmonar... |
OMIM:601559 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Polycystic kidney dysplasia, Coarctation of aorta, Micropenis, Tetralogy of Fallot, Ventricular s... |
OMIM:210710 |
| Polycythemia Vera |
|
Respiratory insufficiency, Hypertension, Pulmonary embolism, Intermittent claudication, Portal hy... |
ORPHA:729 |
| Gaucher Disease Type 3 |
|
Recurrent respiratory infections, Pulmonary arterial hypertension, Abnormal pulmonary interstitia... |
ORPHA:77261 |
| Intellectual Disability, Buenos-Aires Type |
|
Hydronephrosis, Abnormal cardiac septum morphology |
ORPHA:3079 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Hydronephrosis, Camptodactyly, Atrial septal defect, Ventricular septal defect, Pleural lymphangi... |
OMIM:235510 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Pulmonary embolism, Respiratory tract infection |
ORPHA:567548 |
| 22Q11.2 Deletion Syndrome |
|
Polycystic kidney dysplasia, Abnormal pulmonary valve morphology, Vesicoureteral reflux, Ventricu... |
ORPHA:567 |
| Familial Multiple Nevi Flammei |
|
Arrhythmia, Intracranial hemorrhage, Pulmonary embolism |
ORPHA:624 |
| Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Hydronephrosis, Vesicoureteral reflux, Hypoplasia of the bladder, Atrial septal defect, Hydrouret... |
OMIM:300707 |
| 8Q24.3 Microdeletion Syndrome |
|
Abnormality of the kidney, Coarctation of aorta, Pelvic kidney, Ventricular septal defect, Dyspla... |
ORPHA:508488 |
| Hallermann-Streiff Syndrome |
|
Recurrent respiratory infections, Pulmonary arterial hypertension, Tracheomalacia, Hypertension, ... |
OMIM:234100 |
| Johanson-Blizzard Syndrome |
|
Hydronephrosis, Dextrocardia, Hypoplasia of penis, Abnormal cardiac septum morphology, Hypospadias |
ORPHA:2315 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Recurrent respiratory infections, Pulmonary arterial hypertension, Mitral regurgitation, Pulmonic... |
OMIM:612541 |
| Joubert Syndrome 35 |
|
Recurrent urinary tract infections, Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia |
OMIM:618161 |
| Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Hydronephrosis, Hydroureter |
OMIM:618240 |
| Waardenburg Syndrome Type 3 |
|
Tracheomalacia, Atelectasis |
ORPHA:896 |
| 8P Inverted Duplication/Deletion Syndrome |
|
Hydronephrosis, Dextrocardia, Micropenis, Tetralogy of Fallot, Small hypothenar eminence, Abnorma... |
ORPHA:96092 |
| Williams-Beuren Region Duplication Syndrome |
|
Hydronephrosis, Unilateral renal agenesis, Patent ductus arteriosus |
OMIM:609757 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Polycystic kidney dysplasia, Hydronephrosis, Antenatal intracerebral hemorrhage, Enlarged kidney,... |
OMIM:608836 |
| Beta-Thalassemia Intermedia |
|
Pulmonary arterial hypertension, High-output congestive heart failure |
ORPHA:231222 |
| Alg3-Cdg |
|
Coarctation of the descending aortic arch, Cardiomyopathy, Osteopenia, Arthrogryposis multiplex c... |
ORPHA:79321 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Ascending aorta hypoplasia, Hypoplastic left heart, Ventricular septal defect, Hypoplastic aortic... |
OMIM:619503 |
| Fryns Syndrome |
|
Hydronephrosis, Tetralogy of Fallot, Abnormal aortic arch morphology, Abnormal aortic morphology,... |
ORPHA:2059 |
| Scleromyxedema |
|
Raynaud phenomenon, Transient ischemic attack, Abnormal pulmonary artery morphology, Abnormal lun... |
ORPHA:167635 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Recurrent respiratory infections, Pulmonary arterial hypertension, Chronic rhinitis, Apnea, Pulmo... |
ORPHA:667 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Polycystic kidney dysplasia, Hydronephrosis, Renal insufficiency, Unilateral renal agenesis, Abno... |
ORPHA:2237 |
| Wolfram Syndrome, Mitochondrial Form |
|
Hydronephrosis, Hydroureter |
OMIM:598500 |
| Crimean-Congo Hemorrhagic Fever |
|
Myocarditis, Pulmonary arterial hypertension, Diffuse alveolar hemorrhage, Hypotension, Subdural ... |
ORPHA:99827 |
| Bor Syndrome |
|
Hydronephrosis, Ureteropelvic junction obstruction, Renal insufficiency, Renal hypoplasia/aplasia... |
ORPHA:107 |
| Koolen-De Vries Syndrome |
|
Hydronephrosis, Renal duplication, Bicuspid aortic valve, Ureteral duplication, Vesicoureteral re... |
ORPHA:96169 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Dextrocardia, Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Thoracic aortic... |
OMIM:619657 |
| Lymphatic Malformation 13 |
|
Pulmonary arterial hypertension, Mitral regurgitation, Chronic lung disease, Neonatal death |
OMIM:620244 |
| Microcephaly 26, Primary, Autosomal Dominant |
|
Hydronephrosis, Patent foramen ovale |
OMIM:619179 |
| Mullegama-Klein-Martinez Syndrome |
|
Coarctation of aorta, Hypoplastic left heart, Facial palsy, Congenital diaphragmatic hernia, Apic... |
OMIM:301022 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent respiratory infections, Pulmonary arterial hypertension, Mitral stenosis, Peripheral pu... |
ORPHA:163956 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hydronephrosis, Micropenis, Pulmonary lymphangiectasia, Ventricular septal defect, Thyroid lympha... |
OMIM:235255 |
| Glycogen Storage Disease Ic |
|
Spider hemangioma, Pulmonary arterial hypertension, Hypertension, Recurrent upper respiratory tra... |
OMIM:232240 |
| Genitopatellar Syndrome |
|
Hydronephrosis, Atrial septal defect, Knee flexion contracture, Hip contracture, Arthrogryposis m... |
ORPHA:85201 |
| Melnick-Needles Syndrome |
|
Hydronephrosis, Abnormal cardiac septum morphology, Vesicoureteral reflux |
ORPHA:2484 |
| Frontometaphyseal Dysplasia 1 |
|
Hydronephrosis, Camptodactyly of finger, Hydroureter, Knee flexion contracture, Skeletal muscle a... |
OMIM:305620 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Pulmonary embolism, Recurrent lower respiratory tract infections, Budd-Chiari syndrome |
OMIM:226300 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Hydronephrosis, Patent ductus arteriosus |
OMIM:300048 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Recurrent pneumonia, Pulmonary arterial hypertension |
ORPHA:464738 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Pulmonary arterial hypertension, Medial calcification of large arteries, Renal artery stenosis, B... |
ORPHA:391487 |
| Jeune Syndrome |
|
Abnormal rib morphology, Narrow chest, Abnormal clavicle morphology, Short thorax, Abnormal stern... |
ORPHA:474 |
| Zellweger Syndrome |
|
Hydronephrosis, Multicystic kidney dysplasia, Hypospadias, Ventricular septal defect |
ORPHA:912 |
| Pagod Syndrome |
|
Arrhythmia, Pulmonary hypoplasia, Pulmonary artery hypoplasia, Sudden cardiac death, Abnormal aor... |
ORPHA:991 |
| Down Syndrome |
|
Macroglossia, Atrial septal defect, Tetralogy of Fallot, Atrioventricular canal defect, Ventricul... |
OMIM:190685 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Hydronephrosis, Atrial septal defect, Ureteral duplication, Bladder trabeculation, Renal dysplasi... |
OMIM:614080 |
| Familial Bicuspid Aortic Valve |
|
Coarctation of aorta, Hypoplastic left heart, Aortic arch aneurysm, Bicuspid aortic valve, Thorac... |
ORPHA:402075 |
| Hypophosphatasia |
|
Respiratory insufficiency, Emphysema |
ORPHA:436 |
| Thoracic Outlet Syndrome |
|
