Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Hepatomegaly, Tricuspid regurgitation, Congestive heart failure, Splenomega... |
ORPHA:2414 |
Pleural Mesothelioma |
|
Respiratory distress, Hepatomegaly, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology... |
ORPHA:50251 |
Fetal Parvovirus Syndrome |
|
Increased nuchal translucency, Hypertrophic cardiomyopathy, Ascites, Hydrops fetalis |
ORPHA:295 |
Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Crackles, Congestive heart failure, Patent du... |
ORPHA:60041 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... |
OMIM:618773 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Hepatomegaly, Tricuspid regurgitation, Hydrops fetalis, Ascites, Pulmonic stenosis, Restrictive c... |
OMIM:619433 |
Focal Segmental Glomerulosclerosis 1 |
|
Hypertension, Pleural effusion, Ascites, Edema |
OMIM:603278 |
Primary Effusion Lymphoma |
|
Pericardial effusion, Dyspnea, Pleural effusion |
ORPHA:48686 |
Hydrops Fetalis |
|
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Capillary leak, Pleu... |
ORPHA:1041 |
Sarcoidosis, Susceptibility To, 2 |
|
Hepatomegaly, Dyspnea, Splenomegaly, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitia... |
OMIM:612387 |
Lymphatic Malformation 7 |
|
Respiratory distress, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial eff... |
OMIM:617300 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Constrictive pericarditis, Pleural effusion |
OMIM:602248 |
Acute Interstitial Pneumonia |
|
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Pericar... |
ORPHA:79126 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Pleural effusion, Bradycardia, Hypertrophic cardiomyopathy, Ascites, Oligoh... |
OMIM:614702 |
Lymphangiectasia, Pulmonary, Congenital |
|
Recurrent respiratory infections, Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Ede... |
OMIM:265300 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Plantar telangiectasia, Predominantly lower limb lymphedema, Palpebral edema, Hydrops fetalis, Pa... |
ORPHA:69735 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Chronic pulmonary obstruction, Pne... |
ORPHA:411703 |
Nephrosialidosis |
|
Pericardial effusion, Ascites |
OMIM:256150 |
Ovarian Hyperstimulation Syndrome |
|
Ascites |
OMIM:608115 |
Staphylococcal Necrotizing Pneumonia |
|
Shock, Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Ac... |
ORPHA:36238 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Hepatomegaly, Myocardial infarction, Congestive heart failure, Abnormal pulmonary i... |
ORPHA:330001 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Ascites |
ORPHA:2198 |
Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Polyhydramnios, Patent ductus arteriosus, Hydrops fetalis, Ascites |
ORPHA:2123 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Polyhydramnios, Splenomegaly, Respiratory insufficiency, Aplasia/Hypoplasia of the lungs, Ascites... |
ORPHA:1046 |
Pulmonary Capillary Hemangiomatosis |
|
Pulmonary edema, Diffuse alveolar hemorrhage, Right ventricular failure, Pericardial effusion, Pu... |
ORPHA:199241 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Congestive heart failure, Splenomegaly, Telangiectasia, Cardiomyopathy, Pleural eff... |
OMIM:235200 |
Tempi Syndrome |
|
Transudative pleural effusion, Telangiectasia, Intracranial hemorrhage, Hypoxemia, Abnormality of... |
ORPHA:284227 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Dyspnea, Ascites |
OMIM:174050 |
Follicular Lymphoma |
|
Splenomegaly, Pleural effusion, Lymphedema |
ORPHA:545 |
Hepatic Veno-Occlusive Disease |
|
Hepatomegaly, Respiratory failure, Ascites |
ORPHA:890 |
Chylous Ascites |
|
Ascites, Lymphedema |
ORPHA:1160 |
Pseudo-Torch Syndrome 2 |
|
Hepatomegaly, Acute respiratory distress syndrome, Cerebral hemorrhage, Patent ductus arteriosus,... |
OMIM:617397 |
Systemic Capillary Leak Syndrome |
|
Pericarditis, Rhinorrhea, Myocarditis, Pedal edema, Cardiorespiratory arrest, Pleural effusion, H... |
ORPHA:188 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Edema, Pulmonary embolism, Congestive heart failure, P... |
ORPHA:90308 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, Hepatomegaly, Transient ischemic attack, Cardiac arrest, Sudden cardiac dea... |
OMIM:115197 |
Pneumocystosis |
|
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Nonproductive cough... |
ORPHA:723 |
Hypocomplementemic Urticarial Vasculitis |
|
Hepatomegaly, Pericardial effusion, Dyspnea, Angioedema, Emphysema, Splenomegaly, Restrictive ven... |
ORPHA:36412 |
Glycogen Storage Disease Iv |
|
Polyhydramnios, Portal hypertension, Edema, Hydrops fetalis, Hepatosplenomegaly, Cardiomyopathy, ... |
OMIM:232500 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Prolonged QRS complex, Apnea, Left axis deviation, Pericardial effusion, Co... |
OMIM:261740 |
Familial Atrial Myxoma |
|
Tricuspid regurgitation, Congestive heart failure, Heart murmur, Pedal edema, Ascites, Exertional... |
ORPHA:615 |
Sialidosis Type 2 |
|
Hepatomegaly, Dyspnea, Splenomegaly, Hydrops fetalis, Pedal edema, Ascites |
ORPHA:87876 |
Noonan Syndrome 8 |
|
Polyhydramnios, Patent ductus arteriosus, Pleural effusion, Mitral regurgitation, Pulmonic stenos... |
OMIM:615355 |
Aspergillosis |
|
Sinusitis, Pneumonia, Dyspnea, Asthma, Chronic pulmonary obstruction, Hypersensitivity pneumoniti... |
ORPHA:1163 |
Ovarian Fibroma |
|
Pleural effusion, Ascites |
ORPHA:314473 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Crackles, Dyspnea, Nonproductive cough, Atelectasis, Wheezing, Asthma, Hypersensitivity pneumonit... |
ORPHA:2902 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Hepatomegaly, Pericarditis, Splenomegaly, Joint swelling, Pleural effusion |
ORPHA:85414 |
Ovarian Hyperstimulation Syndrome |
|
Generalized edema, Hypovolemia, Capillary leak, Peripheral edema, Pleural effusion, Ascites, Pulm... |
ORPHA:64739 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Splenomegaly, Congestive heart failure, Hydrops fetalis, Ascites |
OMIM:269920 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachycardia, Heart block, Tachypnea, Capillary leak, Hypoxemia, Pleural effusion, Respiratory fai... |
ORPHA:542323 |
Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Edema, Recurrent pneumonia, Abnormal pulmonary interstitial morphology, Hepatosplen... |
OMIM:619644 |
Alpha-Heavy Chain Disease |
|
Splenomegaly, Hepatomegaly, Ascites |
ORPHA:100025 |
Meige Disease |
|
Predominantly lower limb lymphedema, Edema of the dorsum of hands, Facial edema, Periorbital edem... |
ORPHA:90186 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Hepatomegaly, Fetal ascites, Polyhydramnios, Splenomegaly, Hydrops fetalis |
OMIM:619462 |
Splenoportal Vascular Anomalies |
|
Splenomegaly, Ascites |
OMIM:271500 |
Lymphatic Malformation 6 |
|
Genital edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Periorbital edema,... |
OMIM:616843 |
Scedosporiosis |
|
Pericarditis, Sinusitis, Bronchial breath sound, Pneumonia, Bronchitis, Abnormal respiratory syst... |
ORPHA:449280 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Palpebral edema, Edema, Pulmonary embolism, Facial edema, Respiratory tract infection, Dyspnea, P... |
ORPHA:567546 |
Congenital Enterovirus Infection |
|
Respiratory distress, Polyhydramnios, Fetal ascites, Pericardial effusion, Myocarditis, Hydrops f... |
ORPHA:292 |
Tularemia |
|
Respiratory distress, Tachycardia, Pneumonia, Cough, Pleural effusion |
ORPHA:3392 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Polyhydramnios, Hydrops fetalis, Pleural effusion, Pulmonary hypoplasia, Hypertrophic cardiomyopa... |
OMIM:616897 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Hepatomegaly, Ascites |
OMIM:301045 |
Avian Influenza |
|
Respiratory distress, Pneumonia, Productive cough, Congestive heart failure, Nonproductive cough,... |
ORPHA:454836 |
Cirrhotic Cardiomyopathy |
|
Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left ventricular diastolic... |
ORPHA:57777 |
Neuraminidase Deficiency |
|
Hepatomegaly, Facial edema, Splenomegaly, Hydrops fetalis, Cardiomyopathy, Ascites |
OMIM:256550 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Nonimmune hydrops fetalis, Patent ductus arteriosus, Respiratory insufficiency, Hypertension, Sec... |
OMIM:617021 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Hepatomegaly, Tricuspid regurgitation, Crackles, Atelectasis, Dyspnea, Asthma, Wheezing, Bronchie... |
OMIM:620233 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Epistaxis, Portal hypertension, Splenomegaly, Ascites |
OMIM:619463 |
Pulmonary Arteriovenous Malformation |
|
Transient ischemic attack, Epistaxis, Myocardial infarction, Dyspnea, Heart murmur, Telangiectasi... |
ORPHA:2038 |
Mulibrey Nanism |
|
Hepatomegaly, Congestive heart failure, Hydrops fetalis, Recurrent lower respiratory tract infect... |
OMIM:253250 |
Pontocerebellar Hypoplasia, Type 13 |
|
Pleural effusion, Asthma, Recurrent respiratory infections, Edema |
OMIM:618606 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory distress, Hepatomegaly, Nonimmune hydrops fetalis, Portal hypertension, Polyhydramnio... |
ORPHA:367 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Edema, Patent ductus arteriosus, Neonatal death, Ascites, Oligohydramnios |
OMIM:608104 |
Ovarian Fibrothecoma |
|
Pleural effusion, Ascites |
ORPHA:314478 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Pleural effusion, Ascites, Nonimmune hydrops fetalis |
OMIM:617049 |
Combined Oxidative Phosphorylation Deficiency 5 |
|
Hypertrophic cardiomyopathy, Ascites, Edema |
OMIM:611719 |
Free Sialic Acid Storage Disease |
|
Recurrent respiratory infections, Hepatomegaly, Splenomegaly, Hydrops fetalis, Ascites |
ORPHA:834 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Ascites |
ORPHA:858 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial f... |
ORPHA:1677 |
Pseudomyxoma Peritonei |
|
Ascites, Respiratory insufficiency |
ORPHA:26790 |
Malignant Peritoneal Mesothelioma |
|
Dyspnea, Ascites, Pedal edema |
ORPHA:168811 |
Amoebiasis Due To Entamoeba Histolytica |
|
Lung abscess, Dyspnea, Congestive heart failure, Pleural empyema, Cough, Constrictive pericarditi... |
ORPHA:67 |
Congenital Disorder Of Glycosylation, Type Il |
|
Hepatomegaly, Edema, Pericardial effusion, Hepatosplenomegaly, Ascites |
OMIM:608776 |
Dengue Fever |
|
Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Cerebral hemorrhage, Cardiorespiratory arre... |
ORPHA:99828 |
Pediatric Systemic Lupus Erythematosus |
|
Edema, Raynaud phenomenon, Dyspnea, Pericardial effusion, Pleural effusion, Ascites |
ORPHA:93552 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Recurrent respiratory infections, Right axis deviation, Hepatomeg... |
OMIM:232300 |
Gorham-Stout Disease |
|
Pleural effusion, Edema, Rhinorrhea |
ORPHA:73 |
Poems Syndrome |
|
Edema, Pericardial effusion, Respiratory insufficiency due to muscle weakness, Restrictive ventil... |
ORPHA:2905 |
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Ascites, Pericarditis, Pleuritis, Mitral regurgitation |
ORPHA:2848 |
Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Periorbital edema, Congestive heart failure... |
ORPHA:33226 |
Primary Intestinal Lymphangiectasia |
|
Edema, Pericardial effusion, Pleural effusion, Ascites, Generalized edema |
ORPHA:90362 |
Ring Chromosome 22 Syndrome |
|
Pleural effusion, Edema, Lymphedema |
ORPHA:1446 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Edema, Pulmonary embolism, Budd-Chiari syndrome, Recurrent lower respiratory tract ... |
OMIM:226300 |
Ascites, Chylous |
|
Chylous ascites |
OMIM:208300 |
Eosinophilic Gastroenteritis |
|
Allergic rhinitis, Edema, Asthma, Hematochezia, Ascites |
ORPHA:2070 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Polyhydramnios, Pericardial effusion, Recurrent upper respiratory tract infections, Hematochezia,... |
OMIM:618183 |
Lymphoproliferative Syndrome 1 |
|
Pericardial effusion, Hepatomegaly, Pleural effusion, Splenomegaly |
OMIM:613011 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Splenomegaly, Recurrent pneumonia, Hepatosplenomegaly, Ascites |
OMIM:615122 |
Lymphatic Malformation 12 |
|
Neonatal respiratory distress, Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Fetal ascit... |
OMIM:620014 |
Reynolds Syndrome |
|
Hepatomegaly, Telangiectasia of the skin, Xerostomia, Respiratory insufficiency, Ascites, Mucosal... |
ORPHA:779 |
Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Recurrent respiratory infections, Lymphedema, Atelectasis, Dyspnea, ... |
ORPHA:538 |
Kaposiform Lymphangiomatosis |
|
Epidural hemorrhage, Epistaxis, Pericardial effusion, Dyspnea, Abnormal lung morphology, Splenome... |
ORPHA:464329 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... |
ORPHA:75565 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Telangiectasia of the skin, Myocardial infarction, Respiratory failu... |
ORPHA:679 |
Q Fever |
|
Respiratory distress, Hepatomegaly, Pericarditis, Pneumonia, Pericardial effusion, Myocarditis, S... |
ORPHA:781 |
Wolman Disease |
|
Splenomegaly, Hepatomegaly, Ascites |
ORPHA:75233 |
Lymphatic Malformation 13 |
|
Nonimmune hydrops fetalis, Lymphedema, Patent ductus arteriosus, Mitral regurgitation, Neonatal d... |
OMIM:620244 |
Congenital Sialidosis Type 2 |
|
Abnormal EKG, Hepatomegaly, Edema, Respiratory tract infection, Telangiectasia, Hepatosplenomegal... |
ORPHA:93400 |
Necrotizing Enterocolitis |
|
Shock, Apnea, Edema, Bradycardia, Hypotension, Ascites |
ORPHA:391673 |
Niemann-Pick Disease, Type A |
|
Splenomegaly, Recurrent respiratory infections, Ascites, Hepatomegaly |
OMIM:257200 |
Noonan Syndrome 10 |
|
Mitral stenosis, Patent ductus arteriosus, Increased nuchal translucency, Pleural effusion, Mitra... |
OMIM:616564 |
Alkuraya-Kucinskas Syndrome |
|
Pericardial effusion, Pleural effusion, Edema |
OMIM:617822 |
Mucopolysaccharidosis Type 7 |
|
Recurrent respiratory infections, Abnormal pleura morphology, Lymphedema, Splenomegaly, Hydrops f... |
ORPHA:584 |
Lymphedema-Distichiasis Syndrome |
|
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphedema, Patent ductus arterio... |
OMIM:153400 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Splenomegaly, Recurrent pneumonia, Hepatosplenomegaly, Pulmonary fibrosis, Pleural effusion |
OMIM:618935 |
Alg8-Cdg |
|
Ascites, Hydrops fetalis, Edema, Oligohydramnios |
ORPHA:79325 |
Classic Galactosemia |
|
Hepatomegaly, Ascites |
ORPHA:79239 |
Secondary Intestinal Lymphangiectasia |
|
Intestinal lymphedema, Edema, Lymphedema, Right ventricular failure, Chylous ascites, Intestinal ... |
ORPHA:90363 |
Griscelli Syndrome |
|
Splenomegaly, Hepatomegaly, Ascites, Pedal edema |
ORPHA:381 |
Hellp Syndrome |
|
Pulmonary edema, Cerebral hemorrhage, Hypotension, Pleural effusion, Internal hemorrhage, General... |
ORPHA:244242 |
Radio-Renal Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion |
ORPHA:3015 |
Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Ascites |
ORPHA:131 |
Congenital Myopathy 22B, Severe Fetal |
|
Respiratory distress, Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Pulmonary hypoplas... |
OMIM:620369 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Hepatomegaly, Right ventricular failure, Dyspnea, Heart murmur, Neoplasm of the lung, Bronchospas... |
ORPHA:100085 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Portal hypertension, Hepatosplenomegaly, Hypotension, Ascites |
ORPHA:98850 |
Hemorrhagic Fever-Renal Syndrome |
|
Shock, Respiratory distress, Tachycardia, Epistaxis, Pneumonia, Hematemesis, Dyspnea, Capillary l... |
ORPHA:340 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Nonimmune hydrops fetalis, Lymphedema, Periorbital edema, Pericardial effusion, Pulmonary lymphan... |
OMIM:235510 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Pericardial effusion, Splenomegaly, Abnormal pulmonary interstitial morphology, Ped... |
ORPHA:77259 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the lung, Hepatomegaly, Ascites |
ORPHA:83469 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Abnor... |
ORPHA:464321 |
Capillary Malformation-Arteriovenous Malformation |
|
Epistaxis, Nonimmune hydrops fetalis, Lymphedema, High-output congestive heart failure, Congestiv... |
ORPHA:137667 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Hepatomegaly, Apnea, Nonimmune hydrops fetalis, Polyhydramnios, Splenomegal... |
OMIM:608013 |
Cirrhosis, Familial |
|
Hypertension, Ascites, Pulmonary arterial hypertension |
OMIM:215600 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Splenomegaly, Hepatomegaly, Ascites |
OMIM:602347 |
Eisenmenger Syndrome |
|
Respiratory distress, Ventricular tachycardia, Pedal edema, Aortopulmonary window, Supraventricul... |
ORPHA:97214 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Recurrent respiratory infections, Hepatomegaly, Portal hypertension, Hepatosplenomegaly, Pulmonar... |
ORPHA:79124 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Pericarditis, Portal hypertension, Edema, Pericardial effusion, Hepatosplenomegaly,... |
OMIM:619487 |
Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Transient ischemic attack, Supraventricular arrhythmia, Pulmonary embolism,... |
ORPHA:3260 |
Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Pericardial effusion, Dyspnea, Splenomegaly, Bronchiectasis, Abnormal pulmonary int... |
OMIM:181000 |
Immunodeficiency 22 |
|
Pericarditis, Recurrent upper respiratory tract infections, Capillary leak, Recurrent lower respi... |
OMIM:615758 |
Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Splenomegaly, Ascites, Portal hypertension |
ORPHA:64743 |
Erdheim-Chester Disease |
|
Dyspnea, Congestive heart failure, Abnormal pulmonary interstitial morphology, Joint swelling, Pu... |
ORPHA:35687 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Hepatocellular necrosis, Ascites |
OMIM:251880 |
Granulomatous Disease, Chronic, X-Linked |
|
Hepatomegaly, Atelectasis, Splenomegaly, Recurrent pneumonia, Cough, Pleural effusion, Ascites |
OMIM:306400 |
Farber Disease |
|
Respiratory distress, Nodular pattern on pulmonary HRCT, Atelectasis, Recurrent upper respiratory... |
ORPHA:333 |
Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Splenomegaly, Ascites, Spider hemangioma |
ORPHA:2137 |
Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Polyhydramnios, Edema, Atelectasis, Patent ductus arteriosus, Splenomegaly, Respira... |
OMIM:269860 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Polyhydramnios, Lymphedema, Splenomegaly, Pulmonary lymphangiectasia, Ascites |
OMIM:235255 |
Fraser Syndrome 3 |
|
Nonimmune hydrops fetalis, Abnormal lung lobation, Stillbirth, Ascites, Oligohydramnios |
OMIM:617667 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Neonatal respiratory distress, Nonimmune hydrops fetalis, Polyhydramnios, Patent ductus arteriosu... |
OMIM:265380 |
Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Portal hypertension, Pulmonary artery atresia, Pulmonary arterial hy... |
ORPHA:974 |
Sclerosing Cholangitis, Neonatal |
|
Splenomegaly, Hepatomegaly, Ascites, Portal hypertension |
OMIM:617394 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Cerebral hemorrhage, Subdural hemorrhage, Respiratory failure, Chylothorax |
OMIM:620278 |
Familial Mediterranean Fever |
|
Hepatomegaly, Pericarditis, Splenomegaly, Pleural effusion, Pleuritis |
OMIM:249100 |
Immunodeficiency 87 And Autoimmunity |
|
Hepatomegaly, Dilated cardiomyopathy, Hypertension, Anasarca, Third degree atrioventricular block... |
OMIM:619573 |
Fusariosis |
|
Sinusitis, Lung abscess, Pneumonia, Productive cough, Hypersensitivity pneumonitis, Bronchiectasi... |
ORPHA:228119 |
Chondrodysplasia, Blomstrand Type |
|
Stillbirth, Fetal ascites, Hydrops fetalis, Polyhydramnios |
OMIM:215045 |
Nocardiosis |
|
Respiratory distress, Pericarditis, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pn... |
ORPHA:31204 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Pleural effusion, Anasarca, Edema |
OMIM:254900 |
Zygomycosis |
|
Gastrointestinal hemorrhage, Pericarditis, Sinusitis, Epistaxis, Hematemesis, Myocarditis, Perior... |
ORPHA:73263 |
Cryptococcosis |
|
Respiratory distress, Pneumonia, Nodular pattern on pulmonary HRCT, Dyspnea, Cough, Pleural effus... |
ORPHA:1546 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Neonatal respiratory distress, Chylothorax, Polyhydramnios |
OMIM:619036 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Ascites, Pulmonary hypoplasia, Hydrops fetalis |
OMIM:614091 |
Primary Sclerosing Cholangitis |
|
Hepatomegaly, Portal hypertension, Spider hemangioma, Congestive heart failure, Splenomegaly, Hep... |
ORPHA:171 |
Hennekam Syndrome |
|
Recurrent respiratory infections, Lymphedema, Pericardial effusion, Splenomegaly, Pulmonary lymph... |
ORPHA:2136 |
Chédiak-Higashi Syndrome |
|
Recurrent respiratory infections, Epistaxis, Edema, Pericardial effusion, Splenomegaly, Hepatospl... |
ORPHA:167 |
Carney Triad |
|
Gastrointestinal hemorrhage, Tachycardia, Hypertension, Arrhythmia, Ascites |
ORPHA:139411 |
Wolcott-Rallison Syndrome |
|
Hepatomegaly, Ascites, Dehydration |
ORPHA:1667 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
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Hepatomegaly, Polyhydramnios, Splenomegaly, Pulmonary lymphangiectasia, Hepatosplenomegaly, Ascites |
ORPHA:1655 |
Behçet Disease |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Pulmonary... |
ORPHA:117 |
Sarcoidosis |
|
Hepatomegaly, Abnormal cardiac ventricular function, Portal hypertension, Abnormal pleura morphol... |
ORPHA:797 |
Familial Mediterranean Fever |
|
Pericarditis, Myocardial infarction, Splenomegaly, Vasculitis, Pedal edema, Pleuritis, Arrhythmia... |
ORPHA:342 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Increased nuchal translucency, Pleural effusion |
ORPHA:453499 |
Infection-Related Hemolytic Uremic Syndrome |
|
Pneumonia, Edema, Respiratory tract infection, Myocarditis, Dyspnea, Hypertension, Pleural empyem... |
ORPHA:544482 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Respiratory failure, Stillbirth, Ascites |
OMIM:259720 |
Gracile Bone Dysplasia |
|
Ascites |
OMIM:602361 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
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Polyhydramnios, Lymphedema, Splenomegaly, Hepatosplenomegaly, Mitral regurgitation, Chylothorax, ... |
OMIM:613563 |
Pancreatitis, Hereditary |
|
Pleural effusion |
OMIM:167800 |
Intrahepatic Cholestasis Of Pregnancy |
|
Neonatal respiratory distress, Ascites |
ORPHA:69665 |
Xfe Progeroid Syndrome |
|
Hypertension, Ascites |
OMIM:610965 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Respiratory distress, Congestive heart failure, Ascites, Polyhydramnios |
OMIM:617156 |
Leptospirosis |
|
Respiratory distress, Hepatomegaly, Pericarditis, First degree atrioventricular block, Retinal he... |
ORPHA:509 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Abnormal left ventricular function, Internal hemorrhage, Hepatomegaly, Peric... |
ORPHA:99827 |
Peripheral Primitive Neuroectodermal Tumor |
|
Ascites, Pelvic mass |
ORPHA:370348 |
Functioning Gonadotropic Adenoma |
|
Ascites |
ORPHA:91348 |
Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Ascites, Pulmonary hypoplasia, Extrapulmonary sequestrum |
OMIM:200995 |
Brucellosis |
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Hepatomegaly, Pericarditis, Lung abscess, Transient ischemic attack, Pneumonia, Bronchitis, Myoca... |
ORPHA:1304 |
Coccidioidomycosis |
|
Respiratory distress, Pericarditis, Pneumonia, Vasculitis, Vasospasm, Cerebral ischemia, Pleural ... |
ORPHA:228123 |
Atresia Of Urethra |
|
Ascites, Pulmonary insufficiency, Oligohydramnios |
ORPHA:105 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Pleural effusion, Chylothorax, Edema, Lymphedema |
ORPHA:2526 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Periorbital edema, Atelectasis, Recurrent pneumonia, Pulmonary hypoplasia, Tracheomalacia, Emphys... |
OMIM:613177 |
Cutis Marmorata Telangiectatica Congenita |
|
Patent ductus arteriosus, Ascites, Telangiectasia of the skin |
ORPHA:1556 |
Caroli Disease |
|
Splenomegaly, Hepatomegaly, Ascites, Portal hypertension |
ORPHA:53035 |
Chronic Graft Versus Host Disease |
|
Dyspnea, Wheezing, Pneumothorax, Xerostomia, Bronchiectasis, Bronchiolitis obliterans, Cough, Ple... |
ORPHA:99921 |
Kikuchi-Fujimoto Disease |
|
Hepatomegaly, Palpebral edema, Myocarditis, Splenomegaly, Vasculitis, Abnormal pulmonary intersti... |
ORPHA:50918 |
Mosaic Variegated Aneuploidy Syndrome |
|
Aortic regurgitation, Apnea, Polyhydramnios, Increased nuchal translucency, Abnormal lung lobatio... |
ORPHA:1052 |
Tyrosinemia, Type I |
|
Gastrointestinal hemorrhage, Hepatomegaly, Splenomegaly, Melena, Hypertrophic cardiomyopathy, Asc... |
OMIM:276700 |
Primary Biliary Cholangitis |
|
Orthostatic hypotension, Ascites, Portal hypertension |
ORPHA:186 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Respiratory distress, Hepatomegaly, Ascites, Hepatocellular necrosis |
OMIM:256810 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Portal hypertension, Tachypnea, Abnormal pulmonary interstitial morphology, Respiratory insuffici... |
OMIM:613658 |
Perlman Syndrome |
|
Ascites, Polyhydramnios, Visceromegaly, Edema |
OMIM:267000 |
Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Hypoventilation, Spontaneous pneumothorax, Portal hypertension, Sple... |
ORPHA:731 |
Multiple Myeloma |
|
Splenomegaly, Pleural effusion |
ORPHA:29073 |
Senior-Boichis Syndrome |
|
Hypertension, Ascites, Portal hypertension, Hepatosplenomegaly |
ORPHA:84081 |
Mitchell-Riley Syndrome |
|
Ascites |
OMIM:615710 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Splenomegaly, Hepatomegaly, Ascites, Aspiration pneumonia |
OMIM:301072 |
Lysosomal Acid Lipase Deficiency |
|
Hypovolemia, Dehydration, Hepatosplenomegaly, Hypotension, Pulmonary arterial hypertension, Ascites |
ORPHA:275761 |
Fumarase Deficiency |
|
Ascites, Polyhydramnios |
OMIM:606812 |
Vipoma |
|
Hepatomegaly, Respiratory insufficiency due to muscle weakness, Abnormal abdomen morphology, Dehy... |
ORPHA:97282 |
Ppoma |
|
Gastrointestinal hemorrhage, Hepatomegaly, Ascites, Abnormal abdomen morphology |
ORPHA:97278 |
Wilson Disease |
|
Hepatomegaly, Edema, Splenomegaly, Pedal edema, Ascites |
OMIM:277900 |
Lipodystrophy, Familial Partial, Type 7 |
|
Orthostatic hypotension, Spontaneous pneumothorax, Pulmonary arteriovenous malformation, Hyperten... |
OMIM:606721 |
Grfoma |
|
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal abdomen morphology, Neoplasm of the lung, Asc... |
ORPHA:97261 |
Gallbladder Neuroendocrine Tumor |
|
Ascites |
ORPHA:100086 |
Fryns Syndrome |
|
Chylothorax, Stillbirth, Pulmonary hypoplasia, Polyhydramnios |
OMIM:229850 |
Somatostatinoma |
|
Gastrointestinal hemorrhage, Hepatomegaly, Ascites, Abnormal abdomen morphology |
ORPHA:97283 |
Niemann-Pick Disease Type C |
|
Hepatomegaly, Fetal ascites, Splenomegaly, Abnormal lung morphology, Hydrops fetalis, Respiratory... |
ORPHA:646 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Hypoventilation, Hepatomegaly, Anasarca, Tracheomalacia, Ascites |
OMIM:203700 |
Glucagonoma |
|
Gastrointestinal hemorrhage, Hepatomegaly, Ascites, Abnormal abdomen morphology |
ORPHA:97280 |
Noonan Syndrome 1 |
|
Lymphedema, Patent ductus arteriosus, Chylothorax, Pulmonic stenosis, Hypertrophic cardiomyopathy |
OMIM:163950 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Aortic regurgitation, Recurrent respiratory infections, Pulmonary artery dilatation, Tricuspid re... |
OMIM:619534 |
Liver Disease, Severe Congenital |
|
Hepatomegaly, Pneumonia, Splenomegaly, Patent ductus arteriosus, Abnormal left ventricular functi... |
OMIM:619991 |
Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Transient ischemic attack, Edema, Polyhydramnios, Pericardial effusion, Ret... |
ORPHA:51608 |
Congenital Tracheal Stenosis |
|
Respiratory distress, Fetal ascites, Polyhydramnios, Neonatal asphyxia, Patent ductus arteriosus,... |
ORPHA:141127 |
Niemann-Pick Disease, Type C2 |
|
Hepatomegaly, Neonatal respiratory distress, Fetal ascites, Polyhydramnios, Splenomegaly, Respira... |
OMIM:607625 |
Singleton-Merten Syndrome 1 |
|
Congestive heart failure, Aortic valve stenosis, Recurrent respiratory infections, Pleural effusion |
OMIM:182250 |
Johanson-Blizzard Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Dilated cardiomyopathy, Anasarca, Ascites, Gener... |
OMIM:243800 |
Niemann-Pick Disease, Type C1 |
|
Splenomegaly, Hepatomegaly, Fetal ascites |
OMIM:257220 |
D-Bifunctional Protein Deficiency |
|
Splenomegaly, Hepatomegaly, Fetal ascites, Polyhydramnios |
OMIM:261515 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Neonatal respiratory distress, Apnea, Portal hypertension, Fetal ascites, Asthma, Hepatosplenomeg... |
OMIM:619503 |
Faundes-Banka Syndrome |
|
Fetal ascites |
OMIM:619376 |
Immunodeficiency 70 |
|
Achalasia, Recurrent sinusitis |
OMIM:618969 |