Nuchal Bleb, Familial |
|
Hydrops fetalis, Stillbirth, Fetal cystic hygroma |
OMIM:257350 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Polyhydramnios, Hydrops fetalis, Fetal pleural effusion, Fetal ascites, Fetal pericardial effusio... |
OMIM:619462 |
Lymphatic Malformation 9 |
|
Predominantly lower limb lymphedema, Tortuous lymphatic vessels |
OMIM:619319 |
Lymphatic Malformation 11 |
|
Pedal edema, Lymphedema |
OMIM:619401 |
Gjc2-Related Late-Onset Primary Lymphedema |
|
Pedal edema, Edema of the dorsum of hands, Predominantly lower limb lymphedema, Venous insufficie... |
ORPHA:568051 |
Lymphedema And Cerebral Arteriovenous Anomaly |
|
Pulmonary arterial hypertension, Lymphedema |
OMIM:152900 |
Ascites, Chylous |
|
Chylous ascites |
OMIM:208300 |
Lymphangioleiomyomatosis |
|
Pulmonary lymphangiomyomatosis |
OMIM:606690 |
Lymphatic Malformation 2 |
|
Lymphedema |
OMIM:611944 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome |
|
Lymphedema |
ORPHA:69061 |
Lymphatic Malformation 3 |
|
Lymphedema |
OMIM:613480 |
Yellow Nail Syndrome |
|
Predominantly lower limb lymphedema, Hypoplasia of lymphatic vessels, Lymphedema |
OMIM:153300 |
Hydrops Fetalis, Nonimmune |
|
Hydrops fetalis, Nonimmune hydrops fetalis |
OMIM:236750 |
Lymphatic Malformation 5 |
|
Predominantly lower limb lymphedema, Hypoplasia of lymphatic vessels, Facial edema |
OMIM:153200 |
Lymphatic Malformation 1 |
|
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Prominent superficial veins, Hypo... |
OMIM:153100 |
Lymphatic Malformation 8 |
|
Polyhydramnios, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, Stillbirth, Ge... |
OMIM:618773 |
Chylous Ascites |
|
Ascites, Lymphedema |
ORPHA:1160 |
Lymphangiectasia, Pulmonary, Congenital |
|
Polyhydramnios, Pedal edema, Pulmonary lymphangiectasia, Nonimmune hydrops fetalis, Pleural effus... |
OMIM:265300 |
Hydrops Fetalis |
|
Polyhydramnios, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Abnormality of the l... |
ORPHA:1041 |
Choanal Atresia And Lymphedema |
|
Pericardial effusion, Lymphedema |
OMIM:613611 |
Follicular Lymphoma |
|
Lymphedema, Pleural effusion, Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly |
ORPHA:545 |
Fetal Parvovirus Syndrome |
|
Hypertrophic cardiomyopathy, Ascites, Hydrops fetalis, Increased nuchal translucency |
ORPHA:295 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Polyhydramnios, Hydrops fetalis, Nonimmune hydrops fetalis |
OMIM:613124 |
Lymphatic Malformation 7 |
|
Pulmonary edema, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, E... |
OMIM:617300 |
Ovarian Hyperstimulation Syndrome |
|
Ascites |
OMIM:608115 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Restrictive cardiomyopathy, Hydrops fetalis, Pulmonary insufficiency, Hepatomegaly, Ascites, Pulm... |
OMIM:619433 |
Meige Disease |
|
Pedal edema, Lymphedema, Edema of the dorsum of hands, Predominantly lower limb lymphedema, Pleur... |
ORPHA:90186 |
Lymphatic Malformation 10 |
|
Lymphedema |
OMIM:619369 |
Congenital Pulmonary Lymphangiectasia |
|
Pulmonary arterial hypertension, Hydrops fetalis, Pulmonic stenosis, Chylopericardium, Congestive... |
ORPHA:2414 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Hydrops fetalis, Plantar telangiectasia, Predominantly lower limb lymphedema, Abnormality of the ... |
ORPHA:69735 |
Lymphatic Malformation 4 |
|
Pedal edema, Lymphedema |
OMIM:615907 |
Lymphatic Malformation 12 |
|
Polyhydramnios, Lymphedema, Fetal pleural effusion, Nonimmune hydrops fetalis, Fetal ascites, Fet... |
OMIM:620014 |
Chondrodysplasia, Blomstrand Type |
|
Polyhydramnios, Hydrops fetalis, Fetal ascites, Stillbirth, Preductal coarctation of the aorta, P... |
OMIM:215045 |
Cholestasis-Lymphedema Syndrome |
|
Splenomegaly, Hepatomegaly, Lymphedema |
OMIM:214900 |
Nephrosialidosis |
|
Pericardial effusion, Ascites |
OMIM:256150 |
Dysplastic Cortical Hyperostosis |
|
Polyhydramnios, Hydrops fetalis, Splenomegaly |
ORPHA:2204 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Polyhydramnios, Abnormal aortic morphology, Hydrops fetalis, Single umbilical artery |
ORPHA:3405 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Pulmonary lymphangiectasia, Intestinal lymphangiectasia, Pericardial lymphangiectasia, Lymphedema |
OMIM:616006 |
Cholestasis-Lymphedema Syndrome |
|
Lymphedema, Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Abnormality of the ly... |
ORPHA:1414 |
Lissencephaly 2 |
|
Lymphedema |
OMIM:257320 |
Indomethacin Embryofetopathy |
|
Hydrops fetalis, Premature birth, Oligohydramnios |
ORPHA:1909 |
Achondrogenesis, Type Ib |
|
Polyhydramnios, Hydrops fetalis, Breech presentation, Edema, Stillbirth |
OMIM:600972 |
Lymphangiectasia, Intestinal |
|
Pedal edema, Stillbirth, Edema, Intestinal lymphangiectasia |
OMIM:152800 |
Diffuse Neonatal Hemangiomatosis |
|
Patent ductus arteriosus, Polyhydramnios, Hydrops fetalis, Ascites, Premature birth |
ORPHA:2123 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death, Hydrops fetalis |
OMIM:276822 |
Hb Bart'S Hydrops Fetalis |
|
Polyhydramnios, Hydrops fetalis, Oligohydramnios, Preeclampsia, Splenomegaly |
ORPHA:163596 |
Developmental And Epileptic Encephalopathy 96 |
|
Hydrops fetalis |
OMIM:619340 |
Lymphatic Malformation 6 |
|
Polyhydramnios, Lymphedema, Nonimmune hydrops fetalis, Pleural effusion, Edema, Chylothorax, Peri... |
OMIM:616843 |
Alpha-Heavy Chain Disease |
|
Splenomegaly, Ascites, Lymphadenopathy, Hepatomegaly |
ORPHA:100025 |
Fetal Gaucher Disease |
|
Fetal akinesia sequence, Hydrops fetalis, Decreased fetal movement, Intracranial hemorrhage, Stil... |
ORPHA:85212 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Ascites, Hepatomegaly |
ORPHA:2198 |
Splenoportal Vascular Anomalies |
|
Ascites, Splenomegaly |
OMIM:271500 |
Campomelia, Cumming Type |
|
Polysplenia, Lymphedema |
OMIM:211890 |
Glycogen Storage Disease Iv |
|
Polyhydramnios, Hydrops fetalis, Hepatosplenomegaly, Edema, Portal hypertension, Ascites, Cardiom... |
OMIM:232500 |
Dohle Bodies And Leukemia |
|
Lymphedema |
OMIM:223350 |
Secondary Intestinal Lymphangiectasia |
|
Lymphedema, Intestinal lymphedema, Pleural effusion, Edema, Constrictive pericarditis, Chylous as... |
ORPHA:90363 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Telangiectasia, Lymphedema, Hypertrophic cardiomyopathy, Hepatomegaly, Telangiectasia of the skin |
ORPHA:79279 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Polyhydramnios, Ascites, Splenomegaly, Oligohydramnios |
ORPHA:1046 |
Alpha-Thalassemia |
|
Hypersplenism, Hydrops fetalis, Splenomegaly |
ORPHA:846 |
Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Elevated pulmonary artery pressure, Edema, Pulmonary edema |
OMIM:178400 |
Transaldolase Deficiency |
|
Edema, Coarctation of aorta, Hydrops fetalis, Hepatosplenomegaly |
ORPHA:101028 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Ascites |
OMIM:174050 |
Primary Intestinal Lymphangiectasia |
|
Pericardial effusion, Abnormal lymphatic vessel morphology, Pleural effusion, Edema, Ascites, Int... |
ORPHA:90362 |
Familial Atrial Myxoma |
|
Pedal edema, Heart murmur, Congestive heart failure, Ascites, Tricuspid regurgitation |
ORPHA:615 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Lymphedema, Intracranial hemorrhage, Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:3226 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Nonimmune hydrops fetalis, Abnormality of the amniotic fluid, Splenomegaly |
OMIM:608540 |
Cinca Syndrome |
|
Hepatosplenomegaly, Lymphadenopathy, Lymphedema |
OMIM:607115 |
Hepatic Veno-Occlusive Disease |
|
Ascites, Hepatomegaly |
ORPHA:890 |
Pseudomyxoma Peritonei |
|
Ascites, Lymphadenopathy |
ORPHA:26790 |
Lymphedema, Primary, With Myelodysplasia |
|
Lymphedema |
OMIM:614038 |
Melorheostosis |
|
Lymphedema |
ORPHA:2485 |
Sialidosis Type 2 |
|
Pedal edema, Hydrops fetalis, Hepatomegaly, Ascites, Splenomegaly |
ORPHA:87876 |
Kaposi Sarcoma |
|
Abnormality of the spleen, Generalized lymphadenopathy, Lymphedema |
ORPHA:33276 |
Infantile Sialic Acid Storage Disease |
|
Hydrops fetalis, Congestive heart failure, Hepatomegaly, Ascites, Splenomegaly |
OMIM:269920 |
Portal Hypertension, Noncirrhotic, 2 |
|
Epistaxis, Hepatomegaly, Ascites, Portal hypertension, Splenomegaly |
OMIM:619463 |
Milroy Disease |
|
Pedal edema, Predominantly lower limb lymphedema, Lymphedema |
ORPHA:79452 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Polyhydramnios, Lymphedema |
OMIM:618154 |
Idiopathic Neonatal Atrial Flutter |
|
Hydrops fetalis, Fetal distress, Maternal diabetes |
ORPHA:45452 |
Long Qt Syndrome 3 |
|
Hydrops fetalis, Nonimmune hydrops fetalis |
OMIM:603830 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Oligohydramnios, Pleural effusion, Hypertrophic cardiomyopathy, Ascites, Br... |
OMIM:614702 |
Greenberg Dysplasia |
|
Lymphedema |
ORPHA:1426 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Sudden cardiac death, Right bundle branch block, Pulmonary edema, Reduced left ventricular ejecti... |
OMIM:115197 |
Klippel-Trénaunay Syndrome |
|
Pulmonary embolism, Hydrops fetalis, Congestive heart failure, Internal hemorrhage, Edema, Hepato... |
ORPHA:90308 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Oligohydramnios, Atrial flutter, Hydrops fetalis, Lymphedema |
OMIM:601927 |
Lissencephaly 7 With Cerebellar Hypoplasia |
|
Lymphedema |
OMIM:616342 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Neonatal death, Nonimmune hydrops fetalis |
OMIM:619003 |
Lymphedema-Hypoparathyroidism Syndrome |
|
Pulmonary lymphangiectasia, Lymphedema |
OMIM:247410 |
Achondrogenesis |
|
Polyhydramnios, Hydrops fetalis, Thickened nuchal skin fold |
ORPHA:932 |
Yellow Nail Syndrome |
|
Pulmonary arterial hypertension, Hypoplasia of lymphatic vessels, Lymphedema |
ORPHA:662 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Fetal akinesia sequence, Hydrops fetalis |
OMIM:618815 |
Cirrhotic Cardiomyopathy |
|
Elevated pulmonary artery pressure, Left ventricular diastolic dysfunction, Pulmonary edema, Thir... |
ORPHA:57777 |
Congenital Toxoplasmosis |
|
Ascites, Lymphadenopathy, Hepatomegaly |
ORPHA:858 |
Kaposiform Lymphangiomatosis |
|
Epidural hemorrhage, Pericardial effusion, Abnormal spleen morphology, Hepatosplenomegaly, Pleura... |
ORPHA:464329 |
Maternal Uniparental Disomy Of Chromosome X |
|
Predominantly lower limb lymphedema, Congestive heart failure |
ORPHA:261519 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphedema |
ORPHA:1116 |
Capillary Malformation-Arteriovenous Malformation |
|
Telangiectasia, Cerebral ischemia, Lymphedema, Nonimmune hydrops fetalis, Congestive heart failur... |
ORPHA:137667 |
Klippel-Trenaunay-Weber Syndrome |
|
Lymphangioma, Lymphedema |
OMIM:149000 |
Ovarian Hyperstimulation Syndrome |
|
Hypovolemia, Pulmonary edema, Pleural effusion, Peripheral edema, Capillary leak, Ascites, Genera... |
ORPHA:64739 |
Neuraminidase Deficiency |
|
Hydrops fetalis, Bone-marrow foam cells, Ascites, Splenomegaly, Cherry red spot of the macula, Fa... |
OMIM:256550 |
Mucopolysaccharidosis Type 7 |
|
Ascites, Hydrops fetalis, Splenomegaly, Lymphedema |
ORPHA:584 |
Hemochromatosis, Type 1 |
|
Telangiectasia, Congestive heart failure, Pleural effusion, Hepatomegaly, Arrhythmia, Ascites, Sp... |
OMIM:235200 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Ascites, Hepatomegaly |
OMIM:301045 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Lymphedema |
ORPHA:3137 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Polyhydramnios, Lymphedema, Thyroid lymphangiectasia, Pulmonary lymphangiectasia, Pancreatic lymp... |
OMIM:235255 |
Cronkhite-Canada Syndrome |
|
Splenomegaly, Hepatomegaly, Lymphedema |
ORPHA:2930 |
Achondrogenesis Type 1B |
|
Polyhydramnios, Hydrops fetalis, Thickened nuchal skin fold |
ORPHA:93298 |
Chromomycosis |
|
Edema, Predominantly lower limb lymphedema, Lymphangiectasis, Lymphedema |
ORPHA:182 |
Familial Exudative Vitreoretinopathy |
|
Vitreous hemorrhage, Macular edema, Lymphedema, Retinal neovascularization, Macular telangiectasia |
ORPHA:891 |
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth |
|
Lymphedema |
OMIM:613089 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Lymphangiectasis, Edema |
OMIM:602579 |
Tenosynovial Giant Cell Tumor |
|
Joint swelling, Lymphedema |
ORPHA:66627 |
Achondrogenesis Type 1A |
|
Polyhydramnios, Hydrops fetalis, Thickened nuchal skin fold |
ORPHA:93299 |
Malignant Peritoneal Mesothelioma |
|
Pedal edema, Ascites |
ORPHA:168811 |
Free Sialic Acid Storage Disease |
|
Ascites, Hydrops fetalis, Splenomegaly, Hepatomegaly |
ORPHA:834 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Pulmonary embolism, Edema, Hepatomegaly, Budd-Chiari syndrome, Ascites, Intestinal lymphangiectas... |
OMIM:226300 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Lymphedema, Pulmonary lymphangiectasia, Nonimmune hydrops fetalis, Facial telangiectasia in butte... |
OMIM:137940 |
Fabry Disease |
|
Lymphedema, Transient ischemic attack, Congestive heart failure, Angina pectoris, Hypertension, M... |
OMIM:301500 |
Al-Gazali-Bakalinova Syndrome |
|
Lymphedema |
OMIM:607131 |
Boomerang Dysplasia |
|
Polyhydramnios, Hydrops fetalis |
ORPHA:1263 |
Congenital Disorder Of Glycosylation, Type Il |
|
Pericardial effusion, Hepatosplenomegaly, Edema, Hepatomegaly, Ascites |
OMIM:608776 |
Tempi Syndrome |
|
Transudative pleural effusion, Ascites, Telangiectasia, Intracranial hemorrhage |
ORPHA:284227 |
Lymphoproliferative Syndrome 2 |
|
Hepatosplenomegaly, Lymphadenopathy, Hepatomegaly, Ascites, Splenomegaly |
OMIM:615122 |
Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Predominantly lower limb lymphedema, Palmar telangiectasia, Palpebral edema, Nonimmune hydrops fe... |
OMIM:607823 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Hydrops fetalis, Splenomegaly |
ORPHA:766 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Intestinal lymphangiectasia, Generalized edema |
OMIM:207731 |
Monosomy 18P |
|
Hypertension, Lymphedema |
ORPHA:1598 |
German Syndrome |
|
Lymphedema |
ORPHA:2077 |
Parkes Weber Syndrome |
|
Vascular dilatation, Arteriovenous malformation, Cerebral arteriovenous malformation, Vascular to... |
ORPHA:90307 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Polyhydramnios, Decreased fetal movement, Hydrops fetalis |
OMIM:255320 |
Ring Chromosome 22 Syndrome |
|
Pleural effusion, Edema, Lymphedema |
ORPHA:1446 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hypotension, Pulmonary edema, Pericardial effusion, T-wave inversion, ST segment depression, Cong... |
OMIM:261740 |
Cantu Syndrome |
|
Pericardial effusion, Lymphedema |
OMIM:239850 |
Combined Oxidative Phosphorylation Defect Type 27 |
|
Nonimmune hydrops fetalis |
ORPHA:477774 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Polyhydramnios, Nonimmune hydrops fetalis, Congestive heart failure, Hepatosplenomegaly, Dilated ... |
ORPHA:367 |
Ovarian Fibroma |
|
Pleural effusion, Ascites |
ORPHA:314473 |
Hemochromatosis, Neonatal |
|
Nonimmune hydrops fetalis, Oligohydramnios |
OMIM:231100 |
Dengue Fever |
|
Hypotension, Cerebral hemorrhage, Epistaxis, Hepatomegaly, Gastrointestinal hemorrhage, Ascites |
ORPHA:99828 |
Lymphangioleiomyomatosis |
|
Lymphedema, Chylopericardium, Abnormality of the lymphatic system, Lymphadenopathy, Chylothorax, ... |
ORPHA:538 |
Buschke-Ollendorff Syndrome |
|
Hypertension, Lymphedema |
ORPHA:1306 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Lymphedema, Pericardial effusion, Thyroid lymphangiectasia, Pulmonary lymphangiectasia, Nonimmune... |
OMIM:235510 |
Wolman Disease |
|
Ascites, Splenomegaly, Hepatomegaly |
ORPHA:75233 |
Combined Oxidative Phosphorylation Deficiency 5 |
|
Edema, Ascites, Hypertrophic cardiomyopathy |
OMIM:611719 |
Mulibrey Nanism |
|
Ascites, Hydrops fetalis, Congestive heart failure, Hepatomegaly |
OMIM:253250 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Pedal edema, Pulmonary embolism, Hypertension, Pleural effusion, Edema, Palpebral edema, Anasarca... |
ORPHA:567546 |
Desmoplastic Small Round Cell Tumor |
|
Ascites, Lymphadenopathy, Mediastinal lymphadenopathy, Hepatomegaly |
ORPHA:83469 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Lymphedema |
OMIM:152950 |
Achondrogenesis, Type Ii |
|
Polyhydramnios, Hydrops fetalis, Edema, Stillbirth |
OMIM:200610 |
Congenital Enterovirus Infection |
|
Polyhydramnios, Hydrops fetalis, Pericardial effusion, Fetal distress, Decreased fetal movement, ... |
ORPHA:292 |
Hypocomplementemic Urticarial Vasculitis |
|
Small vessel vasculitis, Pericardial effusion, Pleural effusion, Lymphadenopathy, Hepatomegaly, A... |
ORPHA:36412 |
Campomelia, Cumming Type |
|
Oligohydramnios, Hydrops fetalis, Hepatomegaly, Lymphedema |
ORPHA:1318 |
Lymphedema-Distichiasis Syndrome |
|
Lymphedema, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Chylothorax, Arrhythmia |
OMIM:153400 |
Galactosialidosis |
|
Nonimmune hydrops fetalis, Cherry red spot of the macula, Hepatosplenomegaly |
OMIM:256540 |
Griscelli Syndrome |
|
Pedal edema, Lymphadenopathy, Hepatomegaly, Ascites, Splenomegaly |
ORPHA:381 |
Tropical Endomyocardial Fibrosis |
|
Pedal edema, Systolic heart murmur, Restrictive cardiomyopathy, Left ventricular diastolic dysfun... |
ORPHA:75565 |
Clapo Syndrome |
|
Lymphangioma, Lymphedema |
ORPHA:168984 |
Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Ascites, Portal hypertension, Splenomegaly |
ORPHA:131 |
Noonan Syndrome 13 |
|
Mitral regurgitation, Lymphedema |
OMIM:619087 |
Dahlberg-Borer-Newcomer Syndrome |
|
Lymphedema |
ORPHA:1563 |
Aggressive Systemic Mastocytosis |
|
Hypotension, Hypersplenism, Hepatosplenomegaly, Lymphadenopathy, Gastrointestinal hemorrhage, Por... |
ORPHA:98850 |
Niemann-Pick Disease, Type A |
|
Ascites, Lymphadenopathy, Splenomegaly, Hepatomegaly |
OMIM:257200 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Ascites, Splenomegaly, Hepatomegaly |
OMIM:602347 |
Eosinophilic Gastroenteritis |
|
Edema, Ascites, Hematochezia |
ORPHA:2070 |
Infantile Systemic Hyalinosis |
|
Aplasia/Hypoplasia of the thymus, Telangiectasia of the skin, Lymphedema |
ORPHA:2176 |
Carney Triad |
|
Hypertension, Lymphadenopathy, Mediastinal lymphadenopathy, Arrhythmia, Gastrointestinal hemorrha... |
ORPHA:139411 |
Alg8-Cdg |
|
Hydrops fetalis, Oligohydramnios, Edema, Ascites, Premature birth |
ORPHA:79325 |
Hennekam Syndrome |
|
Hydrops fetalis, Lymphedema, Pericardial effusion, Pulmonary lymphangiectasia, Lymphadenopathy, C... |
ORPHA:2136 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Polyhydramnios, Hydrops fetalis, Pleural effusion, Ascites, Single umbilical artery |
OMIM:616897 |
Lymphatic Filariasis |
|
Lymphadenitis, Lymphangiectasis, Lymphedema, Predominantly lower limb lymphedema, Lymphadenopathy... |
ORPHA:2035 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Nonimmune hydrops fetalis, Neonatal death, Premature birth |
OMIM:618835 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Nonimmune hydrops fetalis, Neonatal death, Premature birth |
OMIM:618839 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hydrops fetalis |
OMIM:616738 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Premature birth, Nonimmune hydrops fetalis |
OMIM:618838 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Pleural effusion, Ascites, Nonimmune hydrops fetalis |
OMIM:617049 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Edema, Ascites, Hepatomegaly, Oligohydramnios |
OMIM:608104 |
Gaucher Disease Type 1 |
|
Pulmonary arterial hypertension, Pedal edema, Pericardial effusion, Hypersplenism, Hepatomegaly, ... |
ORPHA:77259 |
Pseudo-Torch Syndrome 2 |
|
Cerebral hemorrhage, Pleural effusion, Hepatomegaly, Ascites, Bradycardia |
OMIM:617397 |
Hepatoportal Sclerosis |
|
Hypersplenism, Gastrointestinal hemorrhage, Ascites, Portal hypertension, Splenomegaly |
ORPHA:64743 |
Trisomy 1Q |
|
Patent ductus arteriosus, Polyhydramnios, Hydrops fetalis, Increased nuchal translucency |
ORPHA:261344 |
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Pericarditis, Ascites, Mitral regurgitation |
ORPHA:2848 |
Distal Xq28 Microduplication Syndrome |
|
Epistaxis, Upper eyelid edema, Predominantly lower limb lymphedema |
ORPHA:293939 |
Congenital Sialidosis Type 2 |
|
Telangiectasia, Abnormal EKG, Hepatosplenomegaly, Edema, Hepatomegaly, Ascites |
ORPHA:93400 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Pericardial effusion, Hypoplastic spleen, Hypoplasia of the thymus, Nonimmune hydrops fetalis |
OMIM:619313 |
Necrotizing Enterocolitis |
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Hypotension, Shock, Edema, Ascites, Bradycardia |
ORPHA:391673 |
Ovarian Fibrothecoma |
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Pleural effusion, Ascites |
ORPHA:314478 |
Poems Syndrome |
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Pulmonary arterial hypertension, Pericardial effusion, Pleural effusion, Edema, Lymphadenopathy, ... |
ORPHA:2905 |
Cirrhosis, Familial |
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Pulmonary arterial hypertension, Ascites, Hypertension |
OMIM:215600 |
Pediatric Systemic Lupus Erythematosus |
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Pericardial effusion, Raynaud phenomenon, Pleural effusion, Edema, Lymphadenopathy, Ascites |
ORPHA:93552 |
Trisomy 13 |
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Patent ductus arteriosus, Hydrops fetalis |
ORPHA:3378 |
Gracile Bone Dysplasia |
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Hypoplastic spleen, Asplenia, Ascites |
OMIM:602361 |
Lethal Congenital Contracture Syndrome 10 |
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Fetal akinesia sequence, Hydrops fetalis, Hypoplasia of the thymus, Oligohydramnios, Overriding a... |
OMIM:617022 |
Platyspondylic Dysplasia, Torrance Type |
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Polyhydramnios, Hydrops fetalis |
ORPHA:85166 |
Phakomatosis Pigmentokeratotica |
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Arrhythmia, Raynaud phenomenon, Lymphedema |
ORPHA:2874 |
Gaucher Disease, Perinatal Lethal |
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Premature birth, Polyhydramnios, Desquamation of skin soon after birth, Decreased fetal movement,... |
OMIM:608013 |
Reynolds Syndrome |
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Mucosal telangiectasiae, Xerostomia, Hepatomegaly, Telangiectasia of the skin, Ascites |
ORPHA:779 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
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Polyhydramnios, Lymphedema, Hepatosplenomegaly, Mitral regurgitation, Chylothorax, Aortic valve s... |
OMIM:613563 |
Primary Hepatic Neuroendocrine Carcinoma |
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Facial telangiectasia, Heart murmur, Right ventricular failure, Palpitations, Hepatomegaly, Chron... |
ORPHA:100085 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
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Telangiectasia of the skin, Lip telangiectasia, Telangiectasia of the oral mucosa, Lymphedema |
ORPHA:79280 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
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Retinal hemorrhage, Vitreous hemorrhage, Cerebral hemorrhage, Intracranial hemorrhage, Diffuse al... |
ORPHA:464321 |
Gm1 Gangliosidosis |
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Patent ductus arteriosus, Premature birth, Hydrops fetalis, Hepatosplenomegaly, Splenomegaly, Che... |
ORPHA:354 |
Takenouchi-Kosaki Syndrome |
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Pulmonic stenosis, Lymphedema |
OMIM:616737 |
Aicardi-Goutieres Syndrome 9 |
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Pericardial effusion, Hypertension, Hepatosplenomegaly, Pericarditis, Edema, Increased blood pres... |
OMIM:619487 |
Galactosemia |
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Ascites, Hepatomegaly |
ORPHA:352 |
Farber Disease |
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Hydrops fetalis, CNS foam cells, Hepatosplenomegaly, Lymphadenopathy, Joint swelling, Ascites, Ch... |
ORPHA:333 |
Bannayan-Riley-Ruvalcaba Syndrome |
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Telangiectasia, Intracranial hemorrhage, Angina pectoris, Lymphedema |
ORPHA:109 |
Phelan-Mcdermid Syndrome |
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Palpebral edema, Lymphedema |
OMIM:606232 |
Fabry Disease |
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Mucosal telangiectasiae, Lymphedema, Transient ischemic attack, Bundle branch block, Telangiectas... |
ORPHA:324 |
Achondrogenesis, Type Ia |
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Polyhydramnios, Hydrops fetalis, Stillbirth, Increased nuchal translucency, Absence of stomach bu... |
OMIM:200600 |
Sclerosing Cholangitis, Neonatal |
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Portal hypertension, Ascites, Splenomegaly, Hepatomegaly |
OMIM:617394 |
Diarrhea 10, Protein-Losing Enteropathy Type |
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Polyhydramnios, Pericardial effusion, Pleural effusion, Anasarca, Ascites, Hematochezia |
OMIM:618183 |
Classic Galactosemia |
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Ascites, Hepatomegaly |
ORPHA:79239 |
Ectodermal Dysplasia And Immunodeficiency 1 |
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Lymphedema |
OMIM:300291 |
Fraser Syndrome 3 |
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Sonographic non-visualized fetal bladder, Nonimmune hydrops fetalis, Oligohydramnios, Stillbirth,... |
OMIM:617667 |
Gm1-Gangliosidosis, Type I |
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Hydrops fetalis, Splenomegaly, Cherry red spot of the macula |
OMIM:230500 |
Cerebrofacioarticular Syndrome |
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Pulmonic stenosis, Lymphedema |
ORPHA:314679 |
Schneckenbecken Dysplasia |
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Polyhydramnios, Nonimmune hydrops fetalis, Stillbirth |
OMIM:269250 |
Mitochondrial Trifunctional Protein Deficiency 1 |
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Prenatal maternal abnormality, Abnormality of the amniotic fluid, Hydrops fetalis |
OMIM:609015 |
Noonan Syndrome |
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Lymphedema, Abnormality of the lymphatic system, Hepatomegaly, Arrhythmia, Abnormality of the spleen |
ORPHA:648 |
Pyruvate Kinase Deficiency Of Red Cells |
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Nonimmune hydrops fetalis, Splenomegaly |
OMIM:266200 |
Mosaic Trisomy 9 |
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Patent ductus arteriosus, Asplenia, Polyhydramnios, Hydrops fetalis, Oligohydramnios, Single umbi... |
ORPHA:99776 |
Autosomal Recessive Spastic Paraplegia Type 11 |
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Orthostatic hypotension, Lymphedema |
ORPHA:2822 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
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Pulmonary hemorrhage, Hepatosplenomegaly, Hepatomegaly, Portal hypertension, Absence of lymph nod... |
ORPHA:79124 |
Eisenmenger Syndrome |
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Pedal edema, Ventricular arrhythmia, Supraventricular arrhythmia, Angina pectoris, Palpitations, ... |
ORPHA:97214 |
Cardiofaciocutaneous Syndrome |
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Hypertrophic cardiomyopathy, Pulmonic stenosis, Lymphedema |
ORPHA:1340 |
Autoimmune Hepatitis |
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Spider hemangioma, Ascites, Splenomegaly, Gastrointestinal hemorrhage |
ORPHA:2137 |
Lymphedema-Distichiasis Syndrome |
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Predominantly lower limb lymphedema, Arrhythmia |
ORPHA:33001 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
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Polyhydramnios, Pulmonary lymphangiectasia, Hepatosplenomegaly, Pancreatic lymphangiectasis, Hepa... |
ORPHA:1655 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
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Nonimmune hydrops fetalis |
OMIM:618265 |
Anemia, Congenital Dyserythropoietic, Type Ia |
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Hydrops fetalis, Splenomegaly |
OMIM:224120 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
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Single umbilical artery, Increased placental thickness, Hydrops fetalis |
ORPHA:1865 |
Greenberg Dysplasia |
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Polyhydramnios, Hydrops fetalis, Neonatal death, Nonimmune hydrops fetalis, Hepatosplenomegaly, E... |
OMIM:215140 |
Immunodeficiency 22 |
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Pericarditis, Ascites, Capillary leak |
OMIM:615758 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
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Patent ductus arteriosus, Asplenia, Polyhydramnios, Thickened nuchal skin fold, Neonatal death, I... |
OMIM:265380 |
Angioosteohypertrophic Syndrome |
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Pulmonary embolism, Lymphedema, Congestive heart failure, Gastrointestinal hemorrhage, Telangiect... |
ORPHA:2346 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
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Ascites, Hydrops fetalis |
OMIM:614091 |
Osteogenesis Imperfecta, Type Ii |
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Premature birth, Nonimmune hydrops fetalis |
OMIM:166210 |
Cardiomyopathy, Familial Hypertrophic, 27 |
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Nonimmune hydrops fetalis |
OMIM:618052 |
Familial Mediterranean Fever |
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Pedal edema, Pericarditis, Myocardial infarction, Lymphadenopathy, Arrhythmia, Ascites, Splenomeg... |
ORPHA:342 |
Fibrochondrogenesis 1 |
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Hydrops fetalis, Stillbirth |
OMIM:228520 |
Crimean-Congo Hemorrhagic Fever |
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Hypotension, Hemoperitoneum, Pericardial effusion, Abnormal left ventricular function, Subdural h... |
ORPHA:99827 |
Gallbladder Neuroendocrine Tumor |
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Chronic noninfectious lymphadenopathy, Ascites |
ORPHA:100086 |
Adams-Oliver Syndrome |
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Portal hypertension, Ascites, Gastrointestinal hemorrhage, Pulmonary arterial hypertension |
ORPHA:974 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
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Portal hypertension, Ascites, Splenomegaly, Hepatomegaly |
OMIM:251880 |
Gm1 Gangliosidosis Type 1 |
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Abnormal placenta morphology, Hydrops fetalis, Cherry red spot of the macula, Hepatosplenomegaly |
ORPHA:79255 |
Kasabach-Merritt Syndrome |
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Abnormal lymphatic vessel morphology |
ORPHA:2330 |
Hereditary Elliptocytosis |
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Hydrops fetalis, Splenomegaly |
ORPHA:288 |
S-Adenosylhomocysteine Hydrolase Deficiency |
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Hydrops fetalis |
ORPHA:88618 |
Mucopolysaccharidosis, Type Vii |
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Hydrops fetalis, Splenomegaly |
OMIM:253220 |
Kanzaki Disease |
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Telangiectasia of the oral mucosa, Lacunar stroke, Lip telangiectasia, Lymphedema |
OMIM:609242 |
Oculoectodermal Syndrome |
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Transient ischemic attack, Hypertrophic cardiomyopathy, Lymphedema |
OMIM:600268 |
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
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Predominantly lower limb lymphedema |
OMIM:604121 |
Granulomatous Disease, Chronic, X-Linked |
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Lymphadenitis, Pleural effusion, Lymphadenopathy, Hepatomegaly, Ascites, Splenomegaly |
OMIM:306400 |
Ogden Syndrome |
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Pulmonary arterial hypertension, Torsade de pointes, Supraventricular tachycardia, Pulmonary edem... |
OMIM:300855 |
Wolcott-Rallison Syndrome |
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Ascites, Hepatomegaly, Dehydration |
ORPHA:1667 |
Anemia, Congenital Dyserythropoietic, Type Iv |
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Hydrops fetalis, Splenomegaly, Hepatosplenomegaly |
OMIM:613673 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
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Pleural effusion, Edema, Chylothorax, Lymphedema |
ORPHA:2526 |
Spondylodysplastic Ehlers-Danlos Syndrome |
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Aortic valve stenosis, Pulmonic stenosis, Lymphedema |
ORPHA:536471 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
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Abnormality of the lymphatic system, Lymphedema |
ORPHA:487796 |
Immunodeficiency 87 And Autoimmunity |
|
Pulmonary arterial hypertension, Third degree atrioventricular block, Hypertension, Dilated cardi... |
OMIM:619573 |
Acrocephalopolydactylous Dysplasia |
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Ascites, Polysplenia, Hepatomegaly |
OMIM:200995 |
Congenital Disorder Of Glycosylation, Type Ia |
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Pericardial effusion, Nonimmune hydrops fetalis, Edema, Stroke-like episode, Abnormality of the a... |
OMIM:212065 |
Blomstrand Lethal Chondrodysplasia |
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Polyhydramnios, Hydrops fetalis, Premature birth, Coarctation of aorta |
ORPHA:50945 |
Alg9-Cdg |
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Hydrops fetalis, Pericardial effusion, Decreased fetal movement, Oligohydramnios, Abnormal renal ... |
ORPHA:79328 |
Mgat2-Cdg |
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Patent ductus arteriosus, Hydrops fetalis |
ORPHA:79329 |
Atresia Of Urethra |
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Ascites, Pulmonary insufficiency, Oligohydramnios |
ORPHA:105 |
Perlman Syndrome |
|
Polyhydramnios, Ascites, Edema, Visceromegaly |
OMIM:267000 |
Schneckenbecken Dysplasia |
|
Polyhydramnios, Lymphedema |
ORPHA:3144 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
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Polyhydramnios, Hydrops fetalis, Edema, Fetal polyuria, Premature birth |
OMIM:602522 |
Lysosomal Acid Lipase Deficiency |
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Hypotension, Pulmonary arterial hypertension, Hypovolemia, Hypersplenism, Hepatosplenomegaly, Deh... |
ORPHA:275761 |
Hepatocellular Carcinoma |
|
Hypotension, Pedal edema, Internal hemorrhage, Hepatomegaly, Portal hypertension, Anasarca, Ascit... |
ORPHA:88673 |
Mycophenolate Mofetil Embryopathy |
|
Hydrops fetalis, Coarctation of aorta |
ORPHA:268249 |
Spondyloocular Syndrome |
|
Lymphedema |
OMIM:605822 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
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Polyhydramnios, Hydrops fetalis |
OMIM:616546 |
Tyrosinemia, Type I |
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Hypertrophic cardiomyopathy, Hepatomegaly, Gastrointestinal hemorrhage, Ascites, Splenomegaly, Me... |
OMIM:276700 |
Caroli Disease |
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Portal hypertension, Ascites, Splenomegaly, Hepatomegaly |
ORPHA:53035 |
Short-Rib Thoracic Dysplasia 12 |
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Polyhydramnios, Edema, Hepatomegaly, Ascites, Splenomegaly |
OMIM:269860 |
Peripheral Primitive Neuroectodermal Tumor |
|
Ascites, Pelvic mass |
ORPHA:370348 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
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Stroke, Subdural hemorrhage, Hydrops fetalis, Dehydration |
ORPHA:79282 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
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Patent ductus arteriosus, Polyhydramnios, Hydrops fetalis, Fetal distress, Breech presentation, B... |
OMIM:300868 |
Xfe Progeroid Syndrome |
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Ascites, Hypertension |
OMIM:610965 |
Costello Syndrome |
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Lymphangiectasis, Premature birth, Polyhydramnios |
OMIM:218040 |
Functioning Gonadotropic Adenoma |
|
Ascites |
ORPHA:91348 |
Osteopetrosis, Autosomal Recessive 5 |
|
Ascites, Splenomegaly, Hepatomegaly, Hepatosplenomegaly |
OMIM:259720 |
Autoimmune Lymphoproliferative Syndrome |
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Hydrops fetalis, Hypersplenism, Lymphadenopathy, Chronic noninfectious lymphadenopathy, Splenomeg... |
ORPHA:3261 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Polyhydramnios, Ascites, Congestive heart failure |
OMIM:617156 |
Grfoma |
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Neoplasm of the thymus, Abnormal abdomen morphology, Gastrointestinal hemorrhage, Hepatomegaly, A... |
ORPHA:97261 |
Intrahepatic Cholestasis Of Pregnancy |
|
Ascites |
ORPHA:69665 |
Gaucher Disease Type 3 |
|
Pericardial effusion, Hydrops fetalis, Splenomegaly |
ORPHA:77261 |
Generalized Arterial Calcification Of Infancy |
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Polyhydramnios, Hydrops fetalis, Arterial calcification, Abnormal retinal artery morphology, Tran... |
ORPHA:51608 |
Senior-Boichis Syndrome |
|
Portal hypertension, Ascites, Hypertension, Hepatosplenomegaly |
ORPHA:84081 |
Cardiac Valvular Dysplasia 1 |
|
Left aortic arch with cervical origin of the right subclavian artery, Hydrops fetalis, Edema, Pul... |
OMIM:212093 |
Proteus Syndrome |
|
Sudden cardiac death, Pulmonary embolism, Neoplasm of the thymus, Lymphedema, Thymus hyperplasia,... |
ORPHA:744 |
Mitchell-Riley Syndrome |
|
Ascites |
OMIM:615710 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Decreased fetal movement, Hydrops fetalis |
OMIM:265000 |
Primary Sclerosing Cholangitis |
|
Spider hemangioma, Congestive heart failure, Hepatosplenomegaly, Pleural effusion, Hepatomegaly, ... |
ORPHA:171 |
Fetal Akinesia Deformation Sequence 1 |
|
Polyhydramnios, Fetal akinesia sequence, Short umbilical cord, Decreased fetal movement, Nonimmun... |
OMIM:208150 |
Ppoma |
|
Gastrointestinal hemorrhage, Abnormal abdomen morphology, Ascites, Hepatomegaly |
ORPHA:97278 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Predominantly lower limb lymphedema |
ORPHA:314404 |
Primary Biliary Cholangitis |
|
Portal hypertension, Orthostatic hypotension, Ascites |
ORPHA:186 |
Wilson Disease |
|
Pedal edema, Edema, Hepatomegaly, Ascites, Splenomegaly |
OMIM:277900 |
Cranioectodermal Dysplasia 2 |
|
Patent ductus arteriosus, Polyhydramnios, Hydrops fetalis, Polysplenia, Splenomegaly |
OMIM:613610 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Ascites, Hypoplasia of the thymus, Accessory spleen, Periorbital edema |
OMIM:613177 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Ascites, Splenomegaly, Hepatomegaly |
OMIM:301072 |
Vipoma |
|
Abnormal abdomen morphology, Hepatomegaly, Dehydration, Ascites, Hematochezia |
ORPHA:97282 |
Noonan Syndrome 1 |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis, Chylothorax, Lymphedema |
OMIM:163950 |
Pearson Syndrome |
|
Hydrops fetalis, Corneal stromal edema, Dehydration, Hypoplastic spleen, Splenomegaly |
ORPHA:699 |
Niemann-Pick Disease Type C |
|
Hydrops fetalis, Hepatosplenomegaly, Fetal ascites, Bone-marrow foam cells, Ascites, Foam cells, ... |
ORPHA:646 |
Somatostatinoma |
|
Gastrointestinal hemorrhage, Abnormal abdomen morphology, Ascites, Hepatomegaly |
ORPHA:97283 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hypersplenism, Hypertension, Hepatosplenomegaly, Oligohydramnios, Gastrointestinal hemorrhage, Po... |
ORPHA:731 |
Pearson Marrow-Pancreas Syndrome |
|
Hydrops fetalis, Dehydration |
OMIM:557000 |
Mosaic Variegated Aneuploidy Syndrome |
|
Aortic regurgitation, Polyhydramnios, Ascites, Increased nuchal translucency |
ORPHA:1052 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Myocardial infarction, Prolonged QT interval, Hypertension, Lymphedema |
ORPHA:99413 |
Turner Syndrome |
|
Myocardial infarction, Prolonged QT interval, Hypertension, Lymphedema |
ORPHA:881 |
Mosaic Monosomy X |
|
Myocardial infarction, Prolonged QT interval, Hypertension, Lymphedema |
ORPHA:99228 |
Monosomy X |
|
Myocardial infarction, Prolonged QT interval, Hypertension, Lymphedema |
ORPHA:99226 |
Monosomy 22Q13.3 |
|
Palpebral edema, Lymphedema |
ORPHA:48652 |
Glucagonoma |
|
Gastrointestinal hemorrhage, Abnormal abdomen morphology, Ascites, Hepatomegaly |
ORPHA:97280 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Hydrops fetalis |
OMIM:263520 |
Hepatoerythropoietic Porphyria |
|
Edema, Nonimmune hydrops fetalis, Abnormality of the amniotic fluid, Splenomegaly |
ORPHA:95159 |
Phocomelia, Schinzel Type |
|
Hydrops fetalis |
ORPHA:2879 |
Cutis Marmorata Telangiectatica Congenita |
|
Ascites, Telangiectasia of the skin |
ORPHA:1556 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Anasarca, Ascites, Hepatomegaly |
OMIM:203700 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Ascites, Hepatomegaly |
OMIM:256810 |
Yunis-Varon Syndrome |
|
Polyhydramnios, Hydrops fetalis, Tetralogy of Fallot, Renal artery stenosis, Increased nuchal tra... |
ORPHA:3472 |
Gaucher Disease |
|
Hydrops fetalis, Splenomegaly, Cherry red spot of the macula |
ORPHA:355 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Anasarca, Ascites, Portal hypertension, Oligohydramnios |
OMIM:613658 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Pulmonary arterial hypertension, Polyhydramnios, Bidirectional shunt, Tricuspid regurgitation, Le... |
OMIM:619534 |
Congenital Erythropoietic Porphyria |
|
Edema, Nonimmune hydrops fetalis, Abnormality of the amniotic fluid, Splenomegaly |
ORPHA:79277 |
Blackfan-Diamond Anemia |
|
Radial artery aplasia, Nonimmune hydrops fetalis, Coarctation of aorta |
ORPHA:124 |
Liver Disease, Severe Congenital |
|
Systolic heart murmur, Pulmonary edema, Abnormal left ventricular function, Hepatomegaly, Ascites... |
OMIM:619991 |
Pmm2-Cdg |
|
Lymphedema, Pericardial effusion, Angina pectoris, Intracranial hemorrhage, Pericarditis, Hypertr... |
ORPHA:79318 |
Chronic Graft Versus Host Disease |
|
Pleural effusion, Ascites, Xerostomia |
ORPHA:99921 |
Yunis-Varon Syndrome |
|
Polyhydramnios, Tetralogy of Fallot, Premature birth, Hydrops fetalis |
OMIM:216340 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hydrops fetalis |
ORPHA:93271 |
Tuberous Sclerosis 1 |
|
Pulmonary lymphangiomyomatosis |
OMIM:191100 |
Tuberous Sclerosis 2 |
|
Pulmonary lymphangiomyomatosis |
OMIM:613254 |
Tuberous Sclerosis Complex |
|
Aortic aneurysm, Pulmonary lymphangiomyomatosis |
ORPHA:805 |