Congenital Pulmonary Lymphangiectasia |
|
Congestive heart failure, Tricuspid regurgitation, Ascites, Pleural effusion, Splenomegaly, Pulmo... |
ORPHA:2414 |
Fetal Parvovirus Syndrome |
|
Hypertrophic cardiomyopathy, Increased nuchal translucency, Hydrops fetalis, Ascites |
ORPHA:295 |
Lymphatic Malformation 8 |
|
Generalized edema, Pleural effusion, Nonimmune hydrops fetalis, Stillbirth, Polyhydramnios, Peric... |
OMIM:618773 |
Congenital Heart Block |
|
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... |
ORPHA:60041 |
Pleural Mesothelioma |
|
Abnormal pleura morphology, Abnormal cardiovascular system physiology, Pleural effusion, Hepatome... |
ORPHA:50251 |
Focal Segmental Glomerulosclerosis 1 |
|
Ascites, Hypertension, Edema, Pleural effusion |
OMIM:603278 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Restrictive cardiomyopathy, Tricuspid regurgitation, Ascites, Hepatomegaly, Pulmonary insufficien... |
OMIM:619433 |
Hydrops Fetalis |
|
Generalized edema, Lymphedema, Ascites, Pleural effusion, Nonimmune hydrops fetalis, Arrhythmia, ... |
ORPHA:1041 |
Primary Effusion Lymphoma |
|
Pericardial effusion, Pleural effusion |
ORPHA:48686 |
Malignant Atrophic Papulosis |
|
Constrictive pericarditis, Gastrointestinal hemorrhage, Pleural effusion |
OMIM:602248 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypertrophic cardiomyopathy, Ascites, Oligohydramnios, Pleural effusion, Bradycardia, Pericardial... |
OMIM:614702 |
Lymphatic Malformation 7 |
|
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... |
OMIM:617300 |
Lymphangiectasia, Pulmonary, Congenital |
|
Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Pleural effusion, Nonimmune hydrops fetali... |
OMIM:265300 |
Sarcoidosis, Susceptibility To, 2 |
|
Emphysema, Pleural effusion, Splenomegaly, Pulmonary arterial hypertension, Pneumothorax, Hepatom... |
OMIM:612387 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Predominantly lower limb lymphedema, Palmar telangiectasia, Ascites, Pleural effusion, Plantar te... |
ORPHA:69735 |
Nephrosialidosis |
|
Ascites, Pericardial effusion |
OMIM:256150 |
Ovarian Hyperstimulation Syndrome |
|
Ascites |
OMIM:608115 |
Diffuse Neonatal Hemangiomatosis |
|
Ascites, Polyhydramnios, Hepatomegaly, Hydrops fetalis, Patent ductus arteriosus |
ORPHA:2123 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Ascites, Hepatomegaly, Gastrointestinal hemorrhage |
ORPHA:2198 |
Wild Type Attr Amyloidosis |
|
Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Pleur... |
ORPHA:330001 |
Hemochromatosis, Type 1 |
|
Cardiomyopathy, Congestive heart failure, Ascites, Pleural effusion, Splenomegaly, Telangiectasia... |
OMIM:235200 |
Follicular Lymphoma |
|
Pleural effusion, Splenomegaly, Lymphedema |
ORPHA:545 |
Chylous Ascites |
|
Ascites, Lymphedema |
ORPHA:1160 |
Acute Interstitial Pneumonia |
|
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Periphera... |
ORPHA:79126 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Ascites, Oligohydramnios, Splenomegaly, Aplasia/Hypoplasia of the lungs, Polyhydramnios |
ORPHA:1046 |
Tempi Syndrome |
|
Ascites, Transudative pleural effusion, Telangiectasia, Abnormality of the pulmonary vasculature,... |
ORPHA:284227 |
Pulmonary Capillary Hemangiomatosis |
|
Diffuse alveolar hemorrhage, Right ventricular failure, Interlobular septal thickening, Hemothora... |
ORPHA:199241 |
Hepatic Veno-Occlusive Disease |
|
Ascites, Hepatomegaly |
ORPHA:890 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Pulmonary embolism, Congestive heart failure, Ascites, Abnormality o... |
ORPHA:90308 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventr... |
OMIM:115197 |
Noonan Syndrome 8 |
|
Hypertrophic cardiomyopathy, Pleural effusion, Mitral regurgitation, Polyhydramnios, Patent ductu... |
OMIM:615355 |
Pseudo-Torch Syndrome 2 |
|
Ascites, Pleural effusion, Bradycardia, Cerebral hemorrhage, Hepatomegaly, Patent ductus arteriosus |
OMIM:617397 |
Ovarian Fibroma |
|
Ascites, Pleural effusion |
ORPHA:314473 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Ascites |
OMIM:174050 |
Infantile Sialic Acid Storage Disease |
|
Congestive heart failure, Ascites, Splenomegaly, Hepatomegaly, Hydrops fetalis |
OMIM:269920 |
Staphylococcal Necrotizing Pneumonia |
|
Pneumonia, Hypotension, Shock, Pleural effusion, Pneumothorax, Acute infectious pneumonia, Pulmon... |
ORPHA:36238 |
Ovarian Hyperstimulation Syndrome |
|
Generalized edema, Ascites, Peripheral edema, Pleural effusion, Pulmonary edema, Capillary leak, ... |
ORPHA:64739 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hypotension, Anasarca, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Asc... |
OMIM:261740 |
Glycogen Storage Disease Iv |
|
Cardiomyopathy, Ascites, Hepatosplenomegaly, Portal hypertension, Bradycardia, Polyhydramnios, Hy... |
OMIM:232500 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pericardial effusion, Pneumothorax, Pleural effusion, Bronchiectasis |
ORPHA:411703 |
Immunodeficiency 91 And Hyperinflammation |
|
Recurrent pneumonia, Abnormal pulmonary interstitial morphology, Pulmonary hemorrhage, Hepatosple... |
OMIM:619644 |
Sialidosis Type 2 |
|
Ascites, Splenomegaly, Hepatomegaly, Hydrops fetalis, Pedal edema |
ORPHA:87876 |
Alpha-Heavy Chain Disease |
|
Ascites, Hepatomegaly, Splenomegaly |
ORPHA:100025 |
Systemic Capillary Leak Syndrome |
|
Hypotension, Pleural effusion, Pulmonary edema, Arrhythmia, Myocarditis, Pedal edema, Pericarditis |
ORPHA:188 |
Familial Atrial Myxoma |
|
Congestive heart failure, Tricuspid regurgitation, Ascites, Heart murmur, Pedal edema |
ORPHA:615 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Fetal ascites, Polyhydramnios, Splenomegaly, Hepatomegaly, Hydrops fetalis |
OMIM:619462 |
Splenoportal Vascular Anomalies |
|
Ascites, Splenomegaly |
OMIM:271500 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Pleural effusion, Splenomegaly, Joint swelling, Hepatomegaly, Pericarditis |
ORPHA:85414 |
Meige Disease |
|
Facial edema, Predominantly lower limb lymphedema, Lymphedema, Peripheral edema, Pleural effusion... |
ORPHA:90186 |
Hypocomplementemic Urticarial Vasculitis |
|
Angioedema, Ascites, Emphysema, Pleural effusion, Splenomegaly, Hepatomegaly, Pericardial effusio... |
ORPHA:36412 |
Cirrhotic Cardiomyopathy |
|
Congestive heart failure, Ascites, Elevated pulmonary artery pressure, Ventricular arrhythmia, Re... |
ORPHA:57777 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Ascites, Pleural effusion, Polyhydramnios, Hydrops fetalis, Pulmonar... |
OMIM:616897 |
Lymphatic Malformation 6 |
|
Facial edema, Generalized edema, Chylothorax, Lymphedema, Ascites, Genital edema, Pleural effusio... |
OMIM:616843 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Ascites, Hepatomegaly |
OMIM:301045 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Facial edema, Pulmonary embolism, Edema, Anasarca, Ascites, Pleural effusion, Respiratory tract i... |
ORPHA:567546 |
Congenital Enterovirus Infection |
|
Hypotension, Fetal ascites, Cardiomyopathy, Pleural effusion, Polyhydramnios, Myocarditis, Hydrop... |
ORPHA:292 |
Portal Hypertension, Noncirrhotic, 2 |
|
Epistaxis, Ascites, Portal hypertension, Splenomegaly, Hepatomegaly |
OMIM:619463 |
Neuraminidase Deficiency |
|
Facial edema, Cardiomyopathy, Ascites, Splenomegaly, Hepatomegaly, Hydrops fetalis |
OMIM:256550 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Ascites, Oligohydramnios, Neonatal death, Hepatomegaly, Patent ductus arteriosus, Edema |
OMIM:608104 |
Aspergillosis |
|
Pneumonia, Pleural effusion, Hypersensitivity pneumonitis, Intracranial hemorrhage, Pulmonary fib... |
ORPHA:1163 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hypotension, Reduced left ventricular ejection fraction, Pleural effusion, Pulmonary edema, Arrhy... |
ORPHA:542323 |
Tularemia |
|
Pneumonia, Tachycardia, Pleural effusion |
ORPHA:3392 |
Mulibrey Nanism |
|
Congestive heart failure, Ascites, Hepatomegaly, Recurrent lower respiratory tract infections, Hy... |
OMIM:253250 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Second degree atrioventricular block, Ascites, Oligohydramnios, Nonimmune hydrops fetalis, Pulmon... |
OMIM:617021 |
Combined Oxidative Phosphorylation Deficiency 5 |
|
Hypertrophic cardiomyopathy, Edema, Ascites |
OMIM:611719 |
Ovarian Fibrothecoma |
|
Ascites, Pleural effusion |
ORPHA:314478 |
Free Sialic Acid Storage Disease |
|
Ascites, Splenomegaly, Hepatomegaly, Recurrent respiratory infections, Hydrops fetalis |
ORPHA:834 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Ascites |
ORPHA:858 |
Pontocerebellar Hypoplasia, Type 13 |
|
Recurrent respiratory infections, Pleural effusion, Edema |
OMIM:618606 |
Alpha-Thalassemia |
|
Generalized edema, Congestive heart failure, Hepatosplenomegaly, Pleural effusion, Splenomegaly, ... |
ORPHA:846 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Ascites, Pleural effusion, Nonimmune hydrops fetalis |
OMIM:617049 |
Scedosporiosis |
|
Pneumonia, Bronchitis, Pulmonary fibrosis, Pleuritis, Pleural empyema, Pericarditis |
ORPHA:449280 |
Tafro Syndrome |
|
Anasarca, Ascites, Hepatosplenomegaly, Pleural effusion, Splenomegaly, Hepatomegaly |
ORPHA:457077 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Dilated cardiomyopathy, Congestive heart failure, Ascites, Hepatosplenomegaly, Portal hypertensio... |
ORPHA:367 |
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Ascites, Pleuritis, Mitral regurgitation, Pericarditis |
ORPHA:2848 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Atrioventricular block, Complete heart block with narrow QRS complexes, Holosystolic murmur, Paro... |
ORPHA:1677 |
Pulmonary Arteriovenous Malformation |
|
Epistaxis, Transient ischemic attack, Pulmonary hemorrhage, Palpitations, Hemothorax, Ischemic st... |
ORPHA:2038 |
Dengue Fever |
|
Epistaxis, Hypotension, Gastrointestinal hemorrhage, Ascites, Cerebral hemorrhage, Hepatomegaly |
ORPHA:99828 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Generalized edema, Pulmonary embolism, Budd-Chiari syndrome, Ascites, Hepatomegaly, Recurrent low... |
OMIM:226300 |
Pseudomyxoma Peritonei |
|
Ascites |
ORPHA:26790 |
Pediatric Systemic Lupus Erythematosus |
|
Ascites, Pleural effusion, Raynaud phenomenon, Pericardial effusion, Edema |
ORPHA:93552 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Hypersensitivity pneumonitis, Pleural effusion, Atelectasis |
ORPHA:2902 |
Amoebiasis Due To Entamoeba Histolytica |
|
Congestive heart failure, Pleural effusion, Constrictive pericarditis, Lung abscess, Pleural empyema |
ORPHA:67 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hematochezia, Recurrent upper respiratory tract infections, Anasarca, Ascites, Pleural effusion, ... |
OMIM:618183 |
Primary Intestinal Lymphangiectasia |
|
Generalized edema, Ascites, Pleural effusion, Pericardial effusion, Edema |
ORPHA:90362 |
Malignant Peritoneal Mesothelioma |
|
Ascites, Pedal edema |
ORPHA:168811 |
Pneumocystosis |
|
Interstitial pneumonitis, Multiple pulmonary cysts, Pleural effusion, Acute infectious pneumonia |
ORPHA:723 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Abnormal pulmonary interstitial morphology, Atelectasis, Tricuspid regurgitation, Pleural effusio... |
OMIM:620233 |
Poems Syndrome |
|
Visceromegaly, Ascites, Pleural effusion, Splenomegaly, Pulmonary arterial hypertension, Hepatome... |
ORPHA:2905 |
Ring Chromosome 22 Syndrome |
|
Pleural effusion, Edema, Lymphedema |
ORPHA:1446 |
Lymphoproliferative Syndrome 2 |
|
Recurrent pneumonia, Ascites, Hepatosplenomegaly, Splenomegaly, Hepatomegaly |
OMIM:615122 |
Gorham-Stout Disease |
|
Pleural effusion, Edema |
ORPHA:73 |
Ascites, Chylous |
|
Chylous ascites |
OMIM:208300 |
Waldenström Macroglobulinemia |
|
Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Periorbital edema, Congestive heart failure, ... |
ORPHA:33226 |
Avian Influenza |
|
Pneumonia, Pneumothorax, Pleural effusion, Congestive heart failure |
ORPHA:454836 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pericardial effusion, Pleural effusion, Splenomegaly |
OMIM:613011 |
Congenital Disorder Of Glycosylation, Type Il |
|
Ascites, Splenomegaly, Hepatomegaly, Hydrops fetalis, Pericardial effusion |
OMIM:608776 |
Lymphatic Malformation 12 |
|
Fetal ascites, Lymphedema, Neonatal death, Nonimmune hydrops fetalis, Polyhydramnios, Pleural thi... |
OMIM:620014 |
Wolman Disease |
|
Ascites, Hepatomegaly, Splenomegaly |
ORPHA:75233 |
Mucopolysaccharidosis Type 7 |
|
Lymphedema, Ascites, Abnormal pleura morphology, Splenomegaly, Recurrent respiratory infections, ... |
ORPHA:584 |
Reynolds Syndrome |
|
Xerostomia, Ascites, Telangiectasia of the skin, Hepatomegaly, Mucosal telangiectasiae |
ORPHA:779 |
Congenital Sialidosis Type 2 |
|
Abnormal EKG, Ascites, Hepatosplenomegaly, Respiratory tract infection, Telangiectasia, Hepatomeg... |
ORPHA:93400 |
Eosinophilic Gastroenteritis |
|
Ascites, Hematochezia, Edema |
ORPHA:2070 |
Niemann-Pick Disease, Type A |
|
Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Ascites |
OMIM:257200 |
Glycogen Storage Disease Ii |
|
Sinus tachycardia, Pleural effusion, Splenomegaly, Shortened PR interval, Subarachnoid hemorrhage... |
OMIM:232300 |
Noonan Syndrome 10 |
|
Hypertrophic cardiomyopathy, Increased nuchal translucency, Pleural effusion, Mitral regurgitatio... |
OMIM:616564 |
Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Chylothorax, Atelectasis, Lymphedema, Ascites, Emphysema, Pulmonary ... |
ORPHA:538 |
Kaposiform Lymphangiomatosis |
|
Epistaxis, Hepatosplenomegaly, Pleural effusion, Splenomegaly, Pericardial effusion, Subconjuncti... |
ORPHA:464329 |
Q Fever |
|
Pneumonia, Vasculitis, Hepatosplenomegaly, Pleural effusion, Splenomegaly, Hepatomegaly, Myocardi... |
ORPHA:781 |
Alkuraya-Kucinskas Syndrome |
|
Pericardial effusion, Pleural effusion, Edema |
OMIM:617822 |
Tropical Endomyocardial Fibrosis |
|
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... |
ORPHA:75565 |
Lymphatic Malformation 13 |
|
Lymphedema, Ascites, Mitral regurgitation, Nonimmune hydrops fetalis, Neonatal death, Pulmonary a... |
OMIM:620244 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Recurrent pneumonia, Hepatosplenomegaly, Pleural effusion, Splenomegaly, Pulmonary fibrosis |
OMIM:618935 |
Lymphedema-Distichiasis Syndrome |
|
Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Nonimmune hydrops fetalis, Arrhythm... |
OMIM:153400 |
Classic Galactosemia |
|
Hepatomegaly, Ascites |
ORPHA:79239 |
Secondary Intestinal Lymphangiectasia |
|
Intestinal bleeding, Right ventricular failure, Anasarca, Lymphedema, Pleural effusion, Constrict... |
ORPHA:90363 |
Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Ascites, Portal hypertension, Splenomegaly, Hepatomegaly |
ORPHA:131 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Arteritis, Ischemic stroke, Pleural effusion, Telangiectasia of the ... |
ORPHA:679 |
Alg8-Cdg |
|
Ascites, Oligohydramnios, Hydrops fetalis, Edema |
ORPHA:79325 |
Griscelli Syndrome |
|
Hepatomegaly, Ascites, Splenomegaly, Pedal edema |
ORPHA:381 |
Hellp Syndrome |
|
Generalized edema, Hypotension, Pleural effusion, Pulmonary edema, Internal hemorrhage, Cerebral ... |
ORPHA:244242 |
Desmoplastic Small Round Cell Tumor |
|
Ascites, Hepatomegaly, Neoplasm of the lung |
ORPHA:83469 |
Aggressive Systemic Mastocytosis |
|
Hypotension, Gastrointestinal hemorrhage, Ascites, Hepatosplenomegaly, Portal hypertension |
ORPHA:98850 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Lymphedema, Pleural effusion, Nonimmune hydrops fetalis, Pulmonary lymphangiectasia, Periorbital ... |
OMIM:235510 |
Congenital Myopathy 22B, Severe Fetal |
|
Ascites, Pleural effusion, Polyhydramnios, Nonimmune hydrops fetalis, Hepatomegaly, Pulmonary hyp... |
OMIM:620369 |
Capillary Malformation-Arteriovenous Malformation |
|
Epistaxis, Chylothorax, Congestive heart failure, Lymphedema, Cerebral ischemia, High-output cong... |
ORPHA:137667 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Ascites, Hepatomegaly, Splenomegaly |
OMIM:602347 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hematochezia, Gastrointestinal hemorrhage, Diffuse alveolar hemorrhage, Melena, Hypertrophic card... |
ORPHA:464321 |
Cirrhosis, Familial |
|
Ascites, Pulmonary arterial hypertension, Hypertension |
OMIM:215600 |
Immunodeficiency 22 |
|
Recurrent upper respiratory tract infections, Ascites, Recurrent lower respiratory tract infectio... |
OMIM:615758 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Right ventricular failure, Ascites, Palpitations, Facial telangiectasia, Hepatomegaly, Heart murm... |
ORPHA:100085 |
Necrotizing Enterocolitis |
|
Hypotension, Shock, Ascites, Bradycardia, Edema |
ORPHA:391673 |
Aicardi-Goutieres Syndrome 9 |
|
Ascites, Hepatosplenomegaly, Pericardial effusion, Portal hypertension, Hepatomegaly, Hypertensio... |
OMIM:619487 |
Hepatoportal Sclerosis |
|
Ascites, Gastrointestinal hemorrhage, Portal hypertension, Splenomegaly |
ORPHA:64743 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Recurrent respiratory infections, Ascites, Pulmonary hemorrhage, Hepatosplenomegaly, Portal hyper... |
ORPHA:79124 |
Gaucher Disease, Perinatal Lethal |
|
Ascites, Hepatosplenomegaly, Polyhydramnios, Splenomegaly, Nonimmune hydrops fetalis, Neonatal de... |
OMIM:608013 |
Hemorrhagic Fever-Renal Syndrome |
|
Pneumonia, Epistaxis, Hypotension, Subconjunctival hemorrhage, Shock, Palpitations, Pleural effus... |
ORPHA:340 |
Autoimmune Hepatitis |
|
Ascites, Gastrointestinal hemorrhage, Spider hemangioma, Splenomegaly |
ORPHA:2137 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Lymphedema, Ascites, Polyhydramnios, Splenomegaly, Pulmonary lymphangiectasia, Hepatomegaly |
OMIM:235255 |
Erdheim-Chester Disease |
|
Congestive heart failure, Pleural effusion, Joint swelling, Abnormal pulmonary interstitial morph... |
ORPHA:35687 |
Immunodeficiency 87 And Autoimmunity |
|
Dilated cardiomyopathy, Third degree atrioventricular block, Anasarca, Ascites, Oligohydramnios, ... |
OMIM:619573 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent pneumonia, Atelectasis, Ascites, Pleural effusion, Splenomegaly, Hepatomegaly |
OMIM:306400 |
Fraser Syndrome 3 |
|
Abnormal lung lobation, Ascites, Oligohydramnios, Nonimmune hydrops fetalis, Stillbirth |
OMIM:617667 |
Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Ascites, Portal hypertension, Pulmonary arterial hypertension, Pulmo... |
ORPHA:974 |
Idiopathic Hypereosinophilic Syndrome |
|
Dilated cardiomyopathy, Pulmonary embolism, Angioedema, Congestive heart failure, Transient ische... |
ORPHA:3260 |
Eisenmenger Syndrome |
|
Elevated jugular venous pressure, Hepatomegaly, Patent ductus arteriosus, Pedal edema, Right vent... |
ORPHA:97214 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Ascites |
OMIM:617394 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Pulmonary artery dilatation, Right-to-left shunt, Abnormal lung lobation, Alveolar capillary dysp... |
OMIM:265380 |
Short-Rib Thoracic Dysplasia 12 |
|
Atelectasis, Ascites, Polyhydramnios, Splenomegaly, Neonatal death, Hepatomegaly, Patent ductus a... |
OMIM:269860 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Pleural effusion, Anasarca, Edema |
OMIM:254900 |
Familial Mediterranean Fever |
|
Pleural effusion, Splenomegaly, Hepatomegaly, Pleuritis, Pericarditis |
OMIM:249100 |
Radio-Renal Syndrome |
|
Chylothorax, Pleural effusion |
ORPHA:3015 |
Farber Disease |
|
Recurrent upper respiratory tract infections, Atelectasis, Ascites, Hepatosplenomegaly, Nodular p... |
ORPHA:333 |
Sarcoidosis, Susceptibility To, 1 |
|
Abnormal pulmonary interstitial morphology, Emphysema, Pleural effusion, Splenomegaly, Pulmonary ... |
OMIM:181000 |
Primary Sclerosing Cholangitis |
|
Spider hemangioma, Palmar telangiectasia, Congestive heart failure, Ascites, Hepatosplenomegaly, ... |
ORPHA:171 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Ascites, Hydrops fetalis, Pulmonary hypoplasia |
OMIM:614091 |
Chondrodysplasia, Blomstrand Type |
|
Polyhydramnios, Fetal ascites, Hydrops fetalis, Stillbirth |
OMIM:215045 |
Fusariosis |
|
Pneumonia, Pleural effusion, Lung abscess, Hypersensitivity pneumonitis, Bronchiectasis |
ORPHA:228119 |
Zygomycosis |
|
Hematochezia, Gastrointestinal hemorrhage, Epistaxis, Periorbital edema, Atelectasis, Pleural eff... |
ORPHA:73263 |
Gaucher Disease Type 1 |
|
Ascites, Hepatosplenomegaly, Portal hypertension, Splenomegaly, Pulmonary arterial hypertension, ... |
ORPHA:77259 |
Hennekam Syndrome |
|
Chylothorax, Lymphedema, Ascites, Splenomegaly, Pulmonary lymphangiectasia, Pericardial effusion,... |
ORPHA:2136 |
Carney Triad |
|
Gastrointestinal hemorrhage, Ascites, Arrhythmia, Tachycardia, Hypertension |
ORPHA:139411 |
Wolcott-Rallison Syndrome |
|
Hepatomegaly, Dehydration, Ascites |
ORPHA:1667 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Ascites, Hepatosplenomegaly, Polyhydramnios, Splenomegaly, Pulmonary lymphangiectasia, Hepatomegaly |
ORPHA:1655 |
Chédiak-Higashi Syndrome |
|
Epistaxis, Hepatosplenomegaly, Pleural effusion, Splenomegaly, Pericardial effusion, Recurrent re... |
ORPHA:167 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Ascites |
OMIM:251880 |
Behçet Disease |
|
Aortic regurgitation, Vasculitis, Gastrointestinal hemorrhage, Pulmonary embolism, Cerebral ische... |
ORPHA:117 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Polyhydramnios, Chylothorax |
OMIM:619036 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Chylothorax, Subdural hemorrhage, Cerebral hemorrhage |
OMIM:620278 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Increased nuchal translucency, Pleural effusion |
ORPHA:453499 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Aortic valve stenosis, Chylothorax, Lymphedema, Hepatosplenomegaly, Mitral regurgitation, Splenom... |
OMIM:613563 |
Gracile Bone Dysplasia |
|
Ascites |
OMIM:602361 |
Infection-Related Hemolytic Uremic Syndrome |
|
Pneumonia, Hypertensive crisis, Generalized edema, Pleuritis, Respiratory tract infection, Myocar... |
ORPHA:544482 |
Xfe Progeroid Syndrome |
|
Ascites, Hypertension |
OMIM:610965 |
Pancreatitis, Hereditary |
|
Pleural effusion |
OMIM:167800 |
Sarcoidosis |
|
Chylothorax, Emphysema, Abnormal pleura morphology, Portal hypertension, Pleural effusion, Joint ... |
ORPHA:797 |
Cryptococcosis |
|
Pneumonia, Cerebral edema, Nodular pattern on pulmonary HRCT, Pleural effusion |
ORPHA:1546 |
Atresia Of Urethra |
|
Ascites, Pulmonary insufficiency, Oligohydramnios |
ORPHA:105 |
Osteopetrosis, Autosomal Recessive 5 |
|
Ascites, Hepatosplenomegaly, Splenomegaly, Stillbirth, Hepatomegaly |
OMIM:259720 |
Familial Mediterranean Fever |
|
Vasculitis, Ascites, Splenomegaly, Arrhythmia, Pleuritis, Myocardial infarction, Pedal edema, Per... |
ORPHA:342 |
Nocardiosis |
|
Pneumonia, Emphysema, Pleural effusion, Pneumothorax, Pleuritis, Pericarditis |
ORPHA:31204 |
Crimean-Congo Hemorrhagic Fever |
|
Hepatomegaly, Tachycardia, Diffuse alveolar hemorrhage, Bundle branch block, Ascites, Hemothorax,... |
ORPHA:99827 |
Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Extrapulmonary lobar sequestration, Ascites, Pulmonary hypoplasia |
OMIM:200995 |
Functioning Gonadotropic Adenoma |
|
Ascites |
ORPHA:91348 |
Brucellosis |
|
Pneumonia, Arteritis, Pulmonary granulomatosis, Bronchitis, Transient ischemic attack, Pleural ef... |
ORPHA:1304 |
Intrahepatic Cholestasis Of Pregnancy |
|
Ascites |
ORPHA:69665 |
Caroli Disease |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Ascites |
ORPHA:53035 |
Peripheral Primitive Neuroectodermal Tumor |
|
Ascites, Pelvic mass |
ORPHA:370348 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Chylothorax, Pleural effusion, Edema, Lymphedema |
ORPHA:2526 |
Cutis Marmorata Telangiectatica Congenita |
|
Ascites, Telangiectasia of the skin, Patent ductus arteriosus |
ORPHA:1556 |
Coccidioidomycosis |
|
Pneumonia, Vasculitis, Vasospasm, Exudative pleural effusion, Cerebral ischemia, Pleural empyema,... |
ORPHA:228123 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Peripheral pulmonary artery stenosis, Recurrent pneumonia, Atelectasis, Ascites, Emphysema, Perio... |
OMIM:613177 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Ascites, Polyhydramnios, Congestive heart failure |
OMIM:617156 |
Kikuchi-Fujimoto Disease |
|
Vasculitis, Abnormal pulmonary interstitial morphology, Pleural effusion, Splenomegaly, Hepatomeg... |
ORPHA:50918 |
Leptospirosis |
|
Hypotension, Pulmonary hemorrhage, Pleural effusion, Hepatomegaly, Arrhythmia, First degree atrio... |
ORPHA:509 |
Mosaic Variegated Aneuploidy Syndrome |
|
Aortic regurgitation, Abnormal lung lobation, Ascites, Increased nuchal translucency, Polyhydramnios |
ORPHA:1052 |
Perlman Syndrome |
|
Ascites, Visceromegaly, Polyhydramnios, Edema |
OMIM:267000 |
Tyrosinemia, Type I |
|
Gastrointestinal hemorrhage, Hypertrophic cardiomyopathy, Ascites, Splenomegaly, Melena, Hepatome... |
OMIM:276700 |
Senior-Boichis Syndrome |
|
Hypertension, Hepatosplenomegaly, Portal hypertension, Ascites |
ORPHA:84081 |
Multiple Myeloma |
|
Pleural effusion, Splenomegaly |
ORPHA:29073 |
Fumarase Deficiency |
|
Ascites, Polyhydramnios |
OMIM:606812 |
Mitchell-Riley Syndrome |
|
Ascites |
OMIM:615710 |
Lysosomal Acid Lipase Deficiency |
|
Hypotension, Ascites, Hepatosplenomegaly, Pulmonary arterial hypertension, Dehydration, Hypovolemia |
ORPHA:275761 |
Primary Biliary Cholangitis |
|
Ascites, Portal hypertension, Splenomegaly, Orthostatic hypotension, Hepatomegaly |
ORPHA:186 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Hepatomegaly, Splenomegaly, Ascites, Aspiration pneumonia |
OMIM:301072 |
Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Spontaneous pneumothorax, Recurrent pneumonia, Ascites, Hepatospleno... |
ORPHA:731 |
Chronic Graft Versus Host Disease |
|
Xerostomia, Ascites, Pleural effusion, Pneumothorax, Bronchiolitis obliterans, Bronchiectasis |
ORPHA:99921 |
Lipodystrophy, Familial Partial, Type 7 |
|
Spontaneous pneumothorax, Pleural effusion, Pulmonary arteriovenous malformation, Pulmonary arter... |
OMIM:606721 |
Ppoma |
|
Hepatomegaly, Gastrointestinal hemorrhage, Abnormal abdomen morphology, Ascites |
ORPHA:97278 |
Grfoma |
|
Gastrointestinal hemorrhage, Abnormal abdomen morphology, Ascites, Hepatomegaly, Neoplasm of the ... |
ORPHA:97261 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Anasarca, Ascites, Emphysema, Oligohydramnios, Portal hypertension, Abnormal pulmonary interstiti... |
OMIM:613658 |
Fryns Syndrome |
|
Polyhydramnios, Pulmonary hypoplasia, Chylothorax, Stillbirth |
OMIM:229850 |
Gallbladder Neuroendocrine Tumor |
|
Ascites |
ORPHA:100086 |
Somatostatinoma |
|
Hepatomegaly, Gastrointestinal hemorrhage, Abnormal abdomen morphology, Ascites |
ORPHA:97283 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Hepatomegaly, Ascites |
OMIM:256810 |
Vipoma |
|
Hepatomegaly, Abnormal abdomen morphology, Dehydration, Ascites |
ORPHA:97282 |
Glucagonoma |
|
Hepatomegaly, Gastrointestinal hemorrhage, Abnormal abdomen morphology, Ascites |
ORPHA:97280 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Hepatomegaly, Anasarca, Ascites |
OMIM:203700 |
Niemann-Pick Disease Type C |
|
Fetal ascites, Aspiration pneumonia, Ascites, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Abn... |
ORPHA:646 |
Noonan Syndrome 1 |
|
Chylothorax, Lymphedema, Hypertrophic cardiomyopathy, Patent ductus arteriosus, Pulmonic stenosis |
OMIM:163950 |
Wilson Disease |
|
Ascites, Splenomegaly, Hepatomegaly, Edema, Pedal edema |
OMIM:277900 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Aortic regurgitation, Bidirectional shunt, Generalized edema, Pulmonary artery dilatation, Edema,... |
OMIM:619534 |
Liver Disease, Severe Congenital |
|
Pneumonia, Ascites, Splenomegaly, Pulmonary edema, Hepatomegaly, Abnormal left ventricular functi... |
OMIM:619991 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Pulmonary cyst, Recurrent pneumonia, Recurrent upper respiratory tract infections, Recurrent sino... |
OMIM:147060 |
Generalized Arterial Calcification Of Infancy |
|
Ascites, Transient ischemic attack, Left ventricular systolic dysfunction, Polyhydramnios, Perica... |
ORPHA:51608 |
Singleton-Merten Syndrome 1 |
|
Aortic valve stenosis, Recurrent respiratory infections, Pleural effusion, Congestive heart failure |
OMIM:182250 |
Niemann-Pick Disease, Type C2 |
|
Fetal ascites, Polyhydramnios, Splenomegaly, Hepatomegaly, Pulmonary fibrosis |
OMIM:607625 |
Congenital Tracheal Stenosis |
|
Fetal ascites, Abnormal lung morphology, Abnormal lung lobation, Anomalous origin of left pulmona... |
ORPHA:141127 |
Johanson-Blizzard Syndrome |
|
Generalized edema, Dilated cardiomyopathy, Anasarca, Ascites, Portal hypertension, Splenomegaly, ... |
OMIM:243800 |
Niemann-Pick Disease, Type C1 |
|
Hepatomegaly, Fetal ascites, Splenomegaly |
OMIM:257220 |
D-Bifunctional Protein Deficiency |
|
Hepatomegaly, Fetal ascites, Polyhydramnios, Splenomegaly |
OMIM:261515 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Fetal ascites, Hepatosplenomegaly, Ischemic stroke, Portal hypertension, Oligohydramnios, Joint s... |
OMIM:619503 |
Faundes-Banka Syndrome |
|
Fetal ascites |
OMIM:619376 |
Immunodeficiency 70 |
|
Achalasia, Recurrent sinusitis |
OMIM:618969 |