Distal Duplication 14Q |
|
Patent ductus arteriosus, Abnormal aortic morphology, Abnormal lung lobation |
ORPHA:1705 |
Coarctation Of Aorta |
|
Coarctation of aorta |
OMIM:120000 |
Aortic Aneurysm, Familial Thoracic 7 |
|
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture |
OMIM:613780 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Bilateral lung agenesis, Patent ductus arteriosus, Coarctation of aorta |
OMIM:601612 |
Aortic Aneurysm, Familial Thoracic 8 |
|
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... |
OMIM:615436 |
Fibromuscular Dysplasia, Arterial |
|
Arterial fibromuscular dysplasia, Stroke, Renovascular hypertension, Aortic dissection |
OMIM:135580 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... |
OMIM:611788 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Th... |
OMIM:132900 |
Tricuspid Atresia |
|
Pulmonary artery atresia, Persistent left superior vena cava, Transposition of the great arteries... |
ORPHA:1209 |
Familial Aortic Dissection |
|
Descending thoracic aorta aneurysm, Descending aortic dissection, Mucoid extracellular matrix acc... |
ORPHA:229 |
Aorto-Ventricular Tunnel |
|
Aorto-ventricular tunnel, Aortic root aneurysm, Abnormal aortic morphology, Abnormal coronary art... |
ORPHA:3400 |
Congenital Heart Defects, Multiple Types, 7 |
|
Aortopulmonary collateral arteries, Right aortic arch, Pulmonary artery atresia, Tetralogy of Fal... |
OMIM:618780 |
Hypoplastic Left Heart Syndrome 1 |
|
Coarctation of aorta |
OMIM:241550 |
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta |
|
Coarctation of abdominal aorta |
OMIM:226100 |
Atrial Septal Defect 4 |
|
Coarctation of aorta |
OMIM:611363 |
Congenital Heart Defects, Multiple Types, 4 |
|
Tetralogy of Fallot, Coarctation of aorta |
OMIM:615779 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Tetralogy of Fallot, Abnormal aortic morphology, Multiple renal cysts, Vesicoureteral reflux, Abn... |
ORPHA:1166 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Right aortic arch with mirror image branching |
OMIM:606217 |
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To |
|
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm |
OMIM:617349 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Coarctation of aorta, Leukopenia, L... |
OMIM:620210 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Recurrent pneumonia, Recurrent bronchiolitis, Coarctation of aorta |
OMIM:616069 |
Familial Cerebral Saccular Aneurysm |
|
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... |
ORPHA:231160 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Truncus arteriosus, Abnormal aortic morphology, Abnormal lung lobation |
ORPHA:2516 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10 |
|
Descending aortic dissection, Ascending aortic dissection, Bronchiectasis |
OMIM:620080 |
Congenital Heart Defects, Multiple Types, 6 |
|
Hypoplastic pulmonary veins, Coarctation of aorta, Right aortic arch, Transposition of the great ... |
OMIM:613854 |
Heterotaxy, Visceral, 4, Autosomal |
|
Dextrotransposition of the great arteries, Right aortic arch, Midline liver, Interrupted inferior... |
OMIM:613751 |
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Interrupted aortic arch, Coarctation of aorta |
OMIM:107550 |
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
|
Portal hypertension, Emphysema, Cirrhosis, Cerebral berry aneurysm |
OMIM:210050 |
Aortic Aneurysm, Familial Thoracic 9 |
|
Ascending aortic dissection, Thoracic aortic aneurysm, Aortic tortuosity |
OMIM:616166 |
Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Bronchiectasis |
OMIM:253240 |
Diabetic Embryopathy |
|
Ureteral duplication, Abnormality of the pancreas, Tetralogy of Fallot, Abnormal aortic morpholog... |
ORPHA:1926 |
Transaldolase Deficiency |
|
Hepatosplenomegaly, Anemia, Coarctation of aorta, Cirrhosis, Thrombocytopenia |
ORPHA:101028 |
16P13.11 Microduplication Syndrome |
|
Tetralogy of Fallot, Transposition of the great arteries, Coarctation of aorta |
ORPHA:261243 |
Conotruncal Heart Malformations |
|
Truncus arteriosus, Transposition of the great arteries, Double outlet right ventricle, Coarctati... |
OMIM:217095 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Recurrent respiratory infections, Patent ductus arteriosus, Arteria lusoria, Abnormal aortic arch... |
ORPHA:99050 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Renal insufficiency, Abnormal aortic morphology |
ORPHA:3222 |
C1Q Deficiency 2 |
|
Atelectasis, Bronchiectasis, Vasculitis in the skin, Recurrent lower respiratory tract infections... |
OMIM:620321 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Patent ductus arteriosus, Anomalous origin of right pulmonary artery from ascending aorta, Coarct... |
OMIM:610338 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Coarctation of aorta |
OMIM:212090 |
Scimitar Syndrome |
|
Recurrent respiratory infections, Anomalous origin of left coronary artery from the pulmonary art... |
ORPHA:185 |
Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Bronchiectasis |
OMIM:615872 |
Igg4-Related Aortitis |
|
Thoracic aortic aneurysm, Hypereosinophilia, Abnormal aortic arch morphology, Ascending tubular a... |
ORPHA:449400 |
Right Atrial Isomerism |
|
Aortopulmonary collateral arteries, Asplenia, Abnormal lung lobation, Total anomalous pulmonary v... |
OMIM:208530 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Peribronchovascular interstitial thickening, Pulmonary situs ... |
ORPHA:244 |
Aortic Aneurysm, Familial Thoracic 12 |
|
Ascending tubular aorta aneurysm, Aortic root aneurysm, Ascending aortic dissection, Spontaneous ... |
OMIM:619825 |
Meacham Syndrome |
|
Hypoplasia of penis, Abnormality of the spleen, Patent ductus arteriosus, Abnormal lung lobation,... |
ORPHA:3097 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Right aortic arch, Coarctation of aorta |
OMIM:140850 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Abnormal aortic morphology, Anemia |
ORPHA:3405 |
Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Patent ductus arteriosus, Abnormal aortic arch morphology |
ORPHA:1455 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Atelectasis, Recurrent bronchitis |
OMIM:300455 |
Heterotaxy, Visceral, 8, Autosomal |
|
Aortopulmonary collateral arteries, Right aortic arch, Abdominal situs inversus, Pulmonary artery... |
OMIM:617205 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Transient ischemic attack, Subarachnoid hemorrhage, Descending thoracic aorta aneurysm, Mucoid ex... |
ORPHA:91387 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Recurrent respiratory infections, Atelectasis, Bronchiectasis |
OMIM:619466 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Abnormal coronary artery morphology, Paten... |
ORPHA:860 |
Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Recurrent lower respiratory tract infections, R... |
OMIM:616726 |
Microphthalmia, Syndromic 9 |
|
Agenesis of pulmonary vessels, Patent ductus arteriosus, Alveolar capillary dysplasia, Multilobul... |
OMIM:601186 |
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease |
|
Proteinuria, Cerebral artery atherosclerosis, Renal artery stenosis, Nephropathy, Coronary artery... |
OMIM:209010 |
Congenital Heart Defects, Multiple Types, 9 |
|
Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricle, Transposition... |
OMIM:620294 |
Ciliary Dyskinesia, Primary, 21 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis |
OMIM:615294 |
Methimazole Embryofetopathy |
|
Abnormal aortic morphology, Hypospadias, Coarctation of aorta |
ORPHA:1923 |
Aortic Valve Disease 2 |
|
Calcification of the aorta, Coarctation of aorta, Ascending aortic dissection, Aortic tortuosity,... |
OMIM:614823 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Patent ductus arteriosus, Abnormal lung lobation, Anomalous pulmonary venous return, Coarctation ... |
ORPHA:1120 |
Aortic Valve Disease 3 |
|
Aortic root aneurysm, Ascending aortic dissection |
OMIM:618496 |
Meacham Syndrome |
|
Accessory spleen, Patent ductus arteriosus, Partial anomalous pulmonary venous return, Horseshoe ... |
OMIM:608978 |
Heterotaxy, Visceral, 6, Autosomal |
|
Right aortic arch, Abdominal situs inversus, Total anomalous pulmonary venous return, Transpositi... |
OMIM:614779 |
15Q11.2 Microdeletion Syndrome |
|
Tetralogy of Fallot, Total anomalous pulmonary venous return, Coarctation of aorta |
ORPHA:261183 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Patent ductus arteriosus, Abnormal aortic morphology |
ORPHA:2001 |
Acute Interstitial Pneumonia |
|
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Atelectasis, Bron... |
ORPHA:79126 |
Double Outlet Right Ventricle |
|
Double outlet right ventricle, Coarctation of aorta, Pulmonary artery atresia, Truncus arteriosus... |
ORPHA:3426 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Coronary artery calcification, Carotid artery calcification, Arterial stenosis, Generalized arter... |
OMIM:208000 |
Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Thrombocytopenia, Patent ductus arteriosus, Micronodular cirrhosis, S... |
OMIM:606003 |
Partial Atrioventricular Septal Defect |
|
Recurrent respiratory infections, Transient ischemic attack, Patent ductus arteriosus, Anomalous ... |
ORPHA:1330 |
Loeys-Dietz Syndrome 4 |
|
Arterial tortuosity, Pneumothorax, Ascending tubular aorta aneurysm, Aortic root aneurysm, Aortic... |
OMIM:614816 |
Bronchopulmonary Dysplasia |
|
Atelectasis, Abnormal lung morphology, Emphysema, Pulmonary sequestration |
ORPHA:70589 |
Holt-Oram Syndrome |
|
Patent ductus arteriosus, Abnormal aortic morphology, Anomalous pulmonary venous return |
ORPHA:392 |
Phaver Syndrome |
|
Pulmonary artery atresia, Hypoplastic aortic arch, Coarctation of aorta |
ORPHA:2876 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Recurrent respiratory infections, Bladder diverticulum, Ascending tubular aorta aneurysm, Vascula... |
OMIM:219100 |
Asbestos Intoxication |
|
Atelectasis, Pleural thickening, Mediastinal lymphadenopathy, Abnormal pulmonary interstitial mor... |
ORPHA:2302 |
Truncus Arteriosus |
|
Single coronary artery origin, Abnormal coronary artery morphology, Anomalous origin of one pulmo... |
ORPHA:3384 |
Fanconi Anemia, Complementation Group B |
|
Aplastic anemia, Patent ductus arteriosus, Abnormal lung lobation, Coarctation of aorta, Micropen... |
OMIM:300514 |
Farber Disease |
|
CNS foam cells, Intrahepatic cholestasis with episodic jaundice, Nodular pattern on pulmonary HRC... |
ORPHA:333 |
Heterotaxy, Visceral, 5, Autosomal |
|
Bilateral trilobed lung, Ureteral duplication, Ureteral stenosis, Asplenia, Patent ductus arterio... |
OMIM:270100 |
Aorta Coarctation |
|
Pseudocoarctation of the aorta, Patent ductus arteriosus, Hypoplastic aortic arch, Coarctation of... |
ORPHA:1457 |
Noonan Syndrome 9 |
|
Hydroureter, Coarctation of aorta |
OMIM:616559 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Coarctation of aorta |
OMIM:217085 |
Bronchogenic Cyst |
|
Abnormal peritoneum morphology, Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Atelectasi... |
ORPHA:2357 |
Alport Syndrome |
|
Renal insufficiency, Proteinuria, Renal glomerular foam cells, Stage 5 chronic kidney disease, He... |
ORPHA:63 |
Respiratory Distress Syndrome In Premature Infants |
|
Atelectasis, Pulmonary edema |
OMIM:267450 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Cerebral arteriovenous malformation, Pulmonary arteriovenous malformation, Stroke, Aortic dissect... |
OMIM:175050 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Hypospadias, Patent ductus arteriosus, Absent pulmonary artery, Coarctation of aorta, Micropenis,... |
OMIM:600460 |
8P23.1 Microdeletion Syndrome |
|
Hypospadias, Patent ductus arteriosus, Pulmonary artery stenosis, Abnormal aortic morphology, Tra... |
ORPHA:251071 |
Heterotaxy, Visceral, 12, Autosomal |
|
Patent ductus arteriosus, Hypoplastic aortic arch, Partial anomalous pulmonary venous return, Coa... |
OMIM:619702 |
Giant Cell Arteritis |
|
Renal insufficiency, Abnormal pleura morphology, Recurrent pharyngitis, Mediastinal lymphadenopat... |
ORPHA:397 |
Pagod Syndrome |
|
Multicystic kidney dysplasia, Abnormality of the spleen, Pulmonary artery hypoplasia, Abnormal ao... |
ORPHA:991 |
Phace Association |
|
Anomalous branches of internal carotid artery, Patent ductus arteriosus, Arterial stenosis, Coarc... |
OMIM:606519 |
Whim Syndrome |
|
Lymphopenia, Pneumonia, Respiratory tract infection, Atelectasis, Lymphadenitis, Recurrent upper ... |
ORPHA:51636 |
Familial Nasal Acilia |
|
Atelectasis, Recurrent upper respiratory tract infections, Bronchiectasis |
ORPHA:922 |
Ciliary Dyskinesia, Primary, 20 |
|
Recurrent respiratory infections, Atelectasis, Pulmonary artery stenosis, Recurrent pneumonia, Br... |
OMIM:615067 |
Grange Syndrome |
|
Coronary artery stenosis, Renovascular hypertension, Renal artery stenosis, Carotid artery stenosis |
OMIM:602531 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Bronchiolitis, Atelectasis, Pulmonary fibrosis |
ORPHA:254361 |
Absence Of The Pulmonary Artery |
|
Recurrent respiratory infections, Abnormal coronary artery morphology, Patent ductus arteriosus, ... |
ORPHA:980 |
Igg4-Related Kidney Disease |
|
Lymphadenitis, Abnormal lung morphology, Sterile pyuria, Tubulointerstitial nephritis, Cholecysti... |
ORPHA:449395 |
You-Hoover-Fong Syndrome |
|
Coarctation of aorta, Double aortic arch, Vascular ring |
OMIM:616954 |
Infant Acute Respiratory Distress Syndrome |
|
Respiratory tract infection, Atelectasis, Pneumonia, Pulmonary edema |
ORPHA:70587 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Peripheral pulmonary artery stenosis, Atelectasis, Recurrent pneumonia, Hypopla... |
OMIM:613177 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Autoimmune hemolytic anemia, Medial calcification of large arteries, Autoimmune thrombocytopenia,... |
ORPHA:391487 |
Fryns Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Abnormal aortic arch morphology, Abnormal aortic morph... |
ORPHA:2059 |
Lymphangioleiomyomatosis |
|
Recurrent respiratory infections, Abnormal urinary color, Atelectasis, Renal angiomyolipoma, Pneu... |
ORPHA:538 |
Renal Nutcracker Syndrome |
|
Proteinuria, Vulval varicose vein, Hematuria, Varicose veins, Renal artery stenosis, Microscopic ... |
ORPHA:71273 |
Recurrent Respiratory Papillomatosis |
|
Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pn... |
ORPHA:60032 |
Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Atelectasis, Recurrent pneumonia |
ORPHA:3348 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Atelectasis, Leukocytosis, Hypersensitivity pneumonitis, Hypereosinophilia, Pleural effusion |
ORPHA:2902 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Atelectasis, Eosinophilia, Recurrent respiratory infections, Vascular dilatation |
ORPHA:2314 |
Mosaic Trisomy 16 |
|
Hypospadias, Patent ductus arteriosus, Abnormal lung morphology, Horseshoe kidney, Coarctation of... |
ORPHA:1708 |
Heterotaxy, Visceral, 1, X-Linked |
|
Bilateral trilobed lung, Hepatomegaly, Asplenia, Patent ductus arteriosus, Hypoplastic aortic arc... |
OMIM:306955 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Hepatomegaly, Atelectasis, Mediastinal lymphadenopathy, Leukocytosis, Abnormal pulmonary intersti... |
OMIM:620233 |
Myotubular Myopathy With Abnormal Genital Development |
|
Hypospadias, Atelectasis, Glandular hypospadias, Micropenis, Penile hypospadias |
OMIM:300219 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Renal artery stenosis, Recurrent... |
OMIM:617913 |
Meconium Aspiration Syndrome |
|
Atelectasis, Pneumothorax, Aspiration pneumonia |
ORPHA:70588 |
Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Asplenia, Atelectasis, Bronchiectasis, Recurrent bronchitis |
OMIM:244400 |
Cardiomyopathy, Dilated, 1S |
|
Pulmonary artery hypoplasia, Coarctation of aorta |
OMIM:613426 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Thoracic aortic aneurysm, Transient ischemic attack, Abnormal internal carotid arte... |
ORPHA:365 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Recurrent respiratory infections, Atelectasis, Elevated bronchoalveolar lavage fluid neutrophil p... |
OMIM:610978 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr... |
OMIM:301068 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Hepatomegaly, Aortopulmonary collateral arteries, Aortopulmonary window, Pulmonary artery hypopla... |
OMIM:620025 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Hydroureter, Hypospadias, Asplenia, Pulmonary artery stenosis, Hypoplastic aortic arch, Patent du... |
OMIM:265380 |
Alagille Syndrome 1 |
|
Hepatocellular carcinoma, Multiple small medullary renal cysts, Renal hypoplasia, Cholestasis, Co... |
OMIM:118450 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Pulmonary artery atresia, Patent ductus arteriosus, Double outlet right ventricle, Coarctation of... |
OMIM:618164 |
Arterial Tortuosity Syndrome |
|
Carotid artery dissection, Pulmonary artery stenosis, Aortic root aneurysm, Ischemic stroke, Gene... |
OMIM:208050 |
Cardiac Diverticulum |
|
Abnormal coronary artery origin, Pulmonary artery stenosis, Patent ductus arteriosus, Partial ano... |
ORPHA:1686 |
Homozygous Familial Hypercholesterolemia |
|
Hepatic steatosis, Precocious atherosclerosis, Abnormal internal carotid artery morphology, Perip... |
ORPHA:391665 |
Familial Bicuspid Aortic Valve |
|
Aortic arch aneurysm, Ascending aortic dissection, Thoracic aorta calcification, Coarctation of a... |
ORPHA:402075 |
2Q37 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Abnormal aortic morphology |
ORPHA:1001 |
Arterial Tortuosity Syndrome |
|
Pulmonary artery stenosis, Arterial stenosis, Aortic root aneurysm, Abnormal carotid artery morph... |
ORPHA:3342 |
Waardenburg Syndrome Type 3 |
|
Atelectasis |
ORPHA:896 |
Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Splenomegaly, Atelectasis, Patent ductus arteriosus, Renal hypoplasia, Periportal f... |
OMIM:269860 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Recurrent respiratory infections, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, ... |
OMIM:618278 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Thoracic aortic aneurysm, Repeated pneumothoraces, Atelectasis, Ascending tubular aorta aneurysm,... |
ORPHA:536467 |
Pheochromocytoma |
|
Proteinuria, Renal artery stenosis, Cerebral hemorrhage, Elevated urinary norepinephrine level |
OMIM:171300 |
Meester-Loeys Syndrome |
|
Ascending tubular aorta aneurysm, Aortic root aneurysm, Dilatation of the cerebral artery, Aortic... |
OMIM:300989 |
Digeorge Syndrome |
|
Hepatic steatosis, Renal insufficiency, Unilateral renal agenesis, Atelectasis, Patent ductus art... |
OMIM:188400 |
Mosaic Variegated Aneuploidy Syndrome |
|
Multicystic kidney dysplasia, Abnormal lung lobation, Coarctation of aorta, Acute lymphoblastic l... |
ORPHA:1052 |
Granulomatous Disease, Chronic, X-Linked |
|
Hepatomegaly, Liver abscess, Atelectasis, Lymphadenitis, Recurrent pneumonia, Splenomegaly, Lymph... |
OMIM:306400 |
Zygomycosis |
|
Renal insufficiency, Atelectasis, Mediastinal lymphadenopathy, Pneumothorax, Peritonitis, Hepatit... |
ORPHA:73263 |
Marfan Syndrome |
|
Spontaneous pneumothorax, Descending aortic dissection, Emphysema, Dilatation of an abdominal art... |
ORPHA:558 |
22Q11.2 Deletion Syndrome |
|
Hypospadias, Abnormality of the tonsils, Retinal arteriolar tortuosity, Atelectasis, Patent ductu... |
ORPHA:567 |
Autosomal Dominant Cutis Laxa |
|
Unilateral renal agenesis, Dilatation of the ventricular cavity, Bronchiectasis, Coarctation of a... |
ORPHA:90348 |
Aortic Arch Interruption |
|
Patent ductus arteriosus, Double outlet right ventricle, Abnormal ascending aorta morphology, Aor... |
ORPHA:2299 |
Holoprosencephaly |
|
Hypoplasia of penis, Proteinuria, Abnormality of the spleen, Aplasia/Hypoplasia of the lungs, Abn... |
ORPHA:2162 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Heparan sulfate excretion in urine, Splenomegaly, Recurrent upper respiratory tract infections, P... |
ORPHA:217085 |
Relapsing Polychondritis |
|
Renal insufficiency, Proteinuria, Atelectasis, Hepatitis, Large vessel vasculitis, Hematuria, Vas... |
ORPHA:728 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Heparan sulfate excretion in urine, Splenomegaly, Recurrent upper respiratory tract infections, P... |
ORPHA:217093 |
Phace Syndrome |
|
Cerebral arteriovenous malformation, Coarctation of aorta, Aortic root aneurysm, Abnormal carotid... |
ORPHA:42775 |
Encephalocraniocutaneous Lipomatosis |
|
Abnormal aortic morphology, Interrupted aortic arch, Coarctation of aorta |
ORPHA:2396 |
Lujo Hemorrhagic Fever |
|
Renal insufficiency, Microscopic hematuria, Atelectasis, Leukocytosis, Fulminant hepatitis, Oligu... |
ORPHA:319213 |
Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Thoracic aortic aneurysm, Subarachnoid hemorrhage, Arterial tortuosit... |
OMIM:613795 |
Loeys-Dietz Syndrome |
|
Arterial tortuosity, Patent ductus arteriosus, Aortic dissection, Arterial dissection, Vascular d... |
ORPHA:60030 |
Autosomal Recessive Robinow Syndrome |
|
Recurrent respiratory infections, Hypoplasia of penis, Multicystic kidney dysplasia, Abnormal aor... |
ORPHA:1507 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Recurrent respiratory infections, Hepatomegaly, Patent ductus arteriosus, Pulmonary artery stenos... |
ORPHA:99125 |
Mucopolysaccharidosis Type 2 |
|
Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Peripheral arterial ste... |
ORPHA:580 |
Fanconi Anemia |
|
Pyridoxine-responsive sideroblastic anemia, Renal insufficiency, Hydroureter, Hypospadias, Abnorm... |
ORPHA:84 |
17Q11 Microdeletion Syndrome |
|
Abnormal internal carotid artery morphology, Abnormal lung morphology, Renovascular hypertension,... |
ORPHA:97685 |
Oculocerebrorenal Syndrome Of Lowe |
|
Recurrent respiratory infections, Renal insufficiency, Proteinuria, Atelectasis, Thrombocytopenia... |
ORPHA:534 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Atelectasis, Recurrent lower respiratory tract infections |
ORPHA:258 |
Williams-Beuren Syndrome |
|
Renal insufficiency, Portal hypertension, Retinal arteriolar tortuosity, Urethral stenosis, Renal... |
OMIM:194050 |
Xq21 Microdeletion Syndrome |
|
Renal artery stenosis |
ORPHA:1435 |
Chand Syndrome |
|
Atelectasis, Hydroureter |
ORPHA:1401 |
Neurofibromatosis, Type I |
|
Renal artery stenosis |
OMIM:162200 |
Yunis-Varon Syndrome |
|
Hypospadias, Renovascular hypertension, Renal artery stenosis, Micropenis, Tetralogy of Fallot |
ORPHA:3472 |