Nuchal Bleb, Familial |
|
Stillbirth, Fetal cystic hygroma, Hydrops fetalis |
OMIM:257350 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Fetal ascites, Polyhydramnios, Splenomegaly, Hydrops fetalis, Fetal pericardial effusion, Fetal p... |
OMIM:619462 |
Lymphatic Malformation 9 |
|
Tortuous lymphatic vessels, Predominantly lower limb lymphedema |
OMIM:619319 |
Lymphatic Malformation 11 |
|
Pedal edema, Lymphedema |
OMIM:619401 |
Gjc2-Related Late-Onset Primary Lymphedema |
|
Genital edema, Predominantly lower limb lymphedema, Edema of the dorsum of hands, Venous insuffic... |
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 |
|
Hypoplasia of lymphatic vessels, Predominantly lower limb lymphedema, Lymphedema |
OMIM:153300 |
Hydrops Fetalis, Nonimmune |
|
Nonimmune hydrops fetalis, Hydrops fetalis |
OMIM:236750 |
Lymphatic Malformation 5 |
|
Facial edema, Hypoplasia of lymphatic vessels, Predominantly lower limb lymphedema |
OMIM:153200 |
Lymphatic Malformation 1 |
|
Prominent superficial veins, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Hypo... |
OMIM:153100 |
Chylous Ascites |
|
Ascites, Lymphedema |
ORPHA:1160 |
Lymphangiectasia, Pulmonary, Congenital |
|
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... |
OMIM:265300 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... |
OMIM:618773 |
Choanal Atresia And Lymphedema |
|
Pericardial effusion, Lymphedema |
OMIM:613611 |
Hydrops Fetalis |
|
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnormality of the l... |
ORPHA:1041 |
Follicular Lymphoma |
|
Lymphedema, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Pleural effusion |
ORPHA:545 |
Fetal Parvovirus Syndrome |
|
Hypertrophic cardiomyopathy, Increased nuchal translucency, Ascites, Hydrops fetalis |
ORPHA:295 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Hydrops fetalis, Nonimmune hydrops fetalis, Polyhydramnios |
OMIM:613124 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Hepatomegaly, Pulmonary insufficiency, Tricuspid regurgitation, Hydrops fetalis, Pulmonic stenosi... |
OMIM:619433 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
Ovarian Hyperstimulation Syndrome |
|
Ascites |
OMIM:608115 |
Meige Disease |
|
Predominantly lower limb lymphedema, Edema of the dorsum of hands, Facial edema, Periorbital edem... |
ORPHA:90186 |
Lymphatic Malformation 10 |
|
Lymphedema |
OMIM:619369 |
Congenital Pulmonary Lymphangiectasia |
|
Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Congestive heart failure, Hydrops fetalis, C... |
ORPHA:2414 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Plantar telangiectasia, Predominantly lower limb lymphedema, Palpebral edema, Abnormality of the ... |
ORPHA:69735 |
Lymphatic Malformation 4 |
|
Pedal edema, Lymphedema |
OMIM:615907 |
Lymphatic Malformation 12 |
|
Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Fetal pericardial effusion,... |
OMIM:620014 |
Chondrodysplasia, Blomstrand Type |
|
Premature birth, Fetal ascites, Polyhydramnios, Hydrops fetalis, Stillbirth, Preductal coarctatio... |
OMIM:215045 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Splenomegaly, Lymphedema |
OMIM:214900 |
Nephrosialidosis |
|
Pericardial effusion, Ascites |
OMIM:256150 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Splenomegaly, Hydrops fetalis, Polyhydramnios |
ORPHA:2204 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Intestinal lymphangiectasia, Pericardial lymphangiectasia, Pulmonary lymphangiectasia, Lymphedema |
OMIM:616006 |
Cholestasis-Lymphedema Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Lymphedema, Splenomegaly, Abnorma... |
ORPHA:1414 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Single umbilical artery, Abnormal aortic morphology, Hydrops fetalis, Polyhydramnios |
ORPHA:3405 |
Lissencephaly 2 |
|
Lymphedema |
OMIM:257320 |
Focal Segmental Glomerulosclerosis 1 |
|
Hypertension, Pleural effusion, Ascites, Edema |
OMIM:603278 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Ascites, Lymphadenopathy |
ORPHA:100025 |
Indomethacin Embryofetopathy |
|
Premature birth, Hydrops fetalis, Oligohydramnios |
ORPHA:1909 |
Lymphangiectasia, Intestinal |
|
Intestinal lymphangiectasia, Stillbirth, Edema, Pedal edema |
OMIM:152800 |
Achondrogenesis, Type Ib |
|
Polyhydramnios, Edema, Breech presentation, Hydrops fetalis, Stillbirth |
OMIM:600972 |
Lymphatic Malformation 6 |
|
Genital edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Periorbital edema,... |
OMIM:616843 |
Developmental And Epileptic Encephalopathy 96 |
|
Hydrops fetalis |
OMIM:619340 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death, Hydrops fetalis |
OMIM:276822 |
Diffuse Neonatal Hemangiomatosis |
|
Premature birth, Polyhydramnios, Patent ductus arteriosus, Hydrops fetalis, Ascites |
ORPHA:2123 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Ascites |
ORPHA:2198 |
Fetal Gaucher Disease |
|
Decreased fetal movement, Fetal akinesia sequence, Abnormality of the spleen, Splenomegaly, Hydro... |
ORPHA:85212 |
Dohle Bodies And Leukemia |
|
Lymphedema |
OMIM:223350 |
Splenoportal Vascular Anomalies |
|
Splenomegaly, Ascites |
OMIM:271500 |
Campomelia, Cumming Type |
|
Polysplenia, Lymphedema |
OMIM:211890 |
Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Hydrops fetalis, Polyhydramnios, Oligohydramnios |
ORPHA:163596 |
Glycogen Storage Disease Iv |
|
Polyhydramnios, Edema, Portal hypertension, Hydrops fetalis, Hepatosplenomegaly, Cardiomyopathy, ... |
OMIM:232500 |
Secondary Intestinal Lymphangiectasia |
|
Intestinal lymphedema, Edema, Lymphedema, Right ventricular failure, Chylous ascites, Intestinal ... |
ORPHA:90363 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hepatomegaly, Telangiectasia of the skin, Lymphedema, Telangiectasia, Hypertrophic cardiomyopathy |
ORPHA:79279 |
Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Elevated pulmonary artery pressure, Edema, Pulmonary edema |
OMIM:178400 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Splenomegaly, Ascites, Polyhydramnios, Oligohydramnios |
ORPHA:1046 |
Alpha-Thalassemia |
|
Hypersplenism, Splenomegaly, Hydrops fetalis |
ORPHA:846 |
Transaldolase Deficiency |
|
Edema, Hydrops fetalis, Coarctation of aorta, Hepatosplenomegaly |
ORPHA:101028 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Ascites |
OMIM:174050 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Lymphedema, Splenomegaly, Lymphadenopathy, Intracranial hemorrhage |
ORPHA:3226 |
Primary Intestinal Lymphangiectasia |
|
Edema, Pericardial effusion, Abnormal lymphatic vessel morphology, Pleural effusion, Intestinal l... |
ORPHA:90362 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Splenomegaly, Abnormality of the amniotic fluid, Nonimmune hydrops fetalis |
OMIM:608540 |
Familial Atrial Myxoma |
|
Tricuspid regurgitation, Congestive heart failure, Heart murmur, Pedal edema, Ascites |
ORPHA:615 |
Sialidosis Type 2 |
|
Hepatomegaly, Splenomegaly, Hydrops fetalis, Pedal edema, Ascites |
ORPHA:87876 |
Cinca Syndrome |
|
Hepatosplenomegaly, Lymphadenopathy, Lymphedema |
OMIM:607115 |
Hepatic Veno-Occlusive Disease |
|
Hepatomegaly, Ascites |
ORPHA:890 |
Lymphedema, Primary, With Myelodysplasia |
|
Lymphedema |
OMIM:614038 |
Pseudomyxoma Peritonei |
|
Ascites, Lymphadenopathy |
ORPHA:26790 |
Congenital Heart Block |
|
Premature birth, Pericardial effusion, Patent ductus arteriosus, Hydrops fetalis, Peripheral edem... |
ORPHA:60041 |
Melorheostosis |
|
Lymphedema |
ORPHA:2485 |
Kaposi Sarcoma |
|
Abnormality of the spleen, Generalized lymphadenopathy, Lymphedema |
ORPHA:33276 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Epistaxis, Portal hypertension, Splenomegaly, Ascites |
OMIM:619463 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Splenomegaly, Congestive heart failure, Hydrops fetalis, Ascites |
OMIM:269920 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Polyhydramnios, Lymphedema |
OMIM:618154 |
Milroy Disease |
|
Predominantly lower limb lymphedema, Pedal edema, Lymphedema |
ORPHA:79452 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Oligohydramnios, Atrial flutter, Hydrops fetalis, Lymphedema |
OMIM:601927 |
Greenberg Dysplasia |
|
Lymphedema |
ORPHA:1426 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Bradycardia, Pleural effusion, Ascites, Oligoh... |
OMIM:614702 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Hepatomegaly, Transient ischemic attack, Cardiac arrest, First degree atrioventricular block, Sud... |
OMIM:115197 |
Long Qt Syndrome 3 |
|
Nonimmune hydrops fetalis, Hydrops fetalis |
OMIM:603830 |
Lissencephaly 7 With Cerebellar Hypoplasia |
|
Lymphedema |
OMIM:616342 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Edema, Pulmonary embolism, Congestive heart failure, H... |
ORPHA:90308 |
Lymphedema-Hypoparathyroidism Syndrome |
|
Pulmonary lymphangiectasia, Lymphedema |
OMIM:247410 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Neonatal death, Nonimmune hydrops fetalis |
OMIM:619003 |
Yellow Nail Syndrome |
|
Pulmonary arterial hypertension, Hypoplasia of lymphatic vessels, Lymphedema |
ORPHA:662 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hydrops fetalis, Fetal akinesia sequence |
OMIM:618815 |
Kaposiform Lymphangiomatosis |
|
Epidural hemorrhage, Pericardial effusion, Splenomegaly, Abnormality of the lymphatic system, Hep... |
ORPHA:464329 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Ascites, Lymphadenopathy |
ORPHA:858 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphedema |
ORPHA:1116 |
Cirrhotic Cardiomyopathy |
|
Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left ventricular diastolic... |
ORPHA:57777 |
Maternal Uniparental Disomy Of Chromosome X |
|
Congestive heart failure, Predominantly lower limb lymphedema |
ORPHA:261519 |
Capillary Malformation-Arteriovenous Malformation |
|
Nonimmune hydrops fetalis, Epistaxis, Lymphedema, High-output congestive heart failure, Congestiv... |
ORPHA:137667 |
Achondrogenesis |
|
Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios |
ORPHA:932 |
Klippel-Trenaunay-Weber Syndrome |
|
Lymphangioma, Lymphedema |
OMIM:149000 |
Cronkhite-Canada Syndrome |
|
Hepatomegaly, Splenomegaly, Lymphedema |
ORPHA:2930 |
Ovarian Hyperstimulation Syndrome |
|
Pulmonary edema, Hypovolemia, Capillary leak, Peripheral edema, Pleural effusion, Ascites, Genera... |
ORPHA:64739 |
Mucopolysaccharidosis Type 7 |
|
Splenomegaly, Ascites, Hydrops fetalis, Lymphedema |
ORPHA:584 |
Neuraminidase Deficiency |
|
Bone-marrow foam cells, Facial edema, Splenomegaly, Hydrops fetalis, Cherry red spot of the macul... |
OMIM:256550 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Polyhydramnios, Thyroid lymphangiectasia, Lymphedema, Splenomegaly, Pancreatic lymp... |
OMIM:235255 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Splenomegaly, Congestive heart failure, Telangiectasia, Cardiomyopathy, Arrhythmia,... |
OMIM:235200 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Lymphedema |
ORPHA:3137 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Hepatomegaly, Ascites |
OMIM:301045 |
Chromomycosis |
|
Lymphangiectasis, Predominantly lower limb lymphedema, Edema, Lymphedema |
ORPHA:182 |
Familial Exudative Vitreoretinopathy |
|
Macular telangiectasia, Lymphedema, Macular edema, Vitreous hemorrhage, Retinal neovascularization |
ORPHA:891 |
Idiopathic Neonatal Atrial Flutter |
|
Hydrops fetalis, Fetal distress |
ORPHA:45452 |
Achondrogenesis Type 1B |
|
Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios |
ORPHA:93298 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Lymphangiectasis, Edema |
OMIM:602579 |
Malignant Peritoneal Mesothelioma |
|
Ascites, Pedal edema |
ORPHA:168811 |
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth |
|
Lymphedema |
OMIM:613089 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Palpebral edema, Nonimmune hydrops fetalis, Lymphedema, Pulmonary lymphangiectasia, Telangiectasi... |
OMIM:137940 |
Free Sialic Acid Storage Disease |
|
Splenomegaly, Ascites, Hydrops fetalis, Hepatomegaly |
ORPHA:834 |
Tenosynovial Giant Cell Tumor |
|
Joint swelling, Lymphedema |
ORPHA:66627 |
Achondrogenesis Type 1A |
|
Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios |
ORPHA:93299 |
Al-Gazali-Bakalinova Syndrome |
|
Lymphedema |
OMIM:607131 |
Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Palmar telangiectasia, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Palpebral ... |
OMIM:607823 |
Fabry Disease |
|
Transient ischemic attack, Angina pectoris, Myocardial infarction, Lymphedema, Congestive heart f... |
OMIM:301500 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Edema, Pulmonary embolism, Budd-Chiari syndrome, Intestinal lymphangiectasia, Ascit... |
OMIM:226300 |
Congenital Disorder Of Glycosylation, Type Il |
|
Hepatomegaly, Edema, Pericardial effusion, Hepatosplenomegaly, Ascites |
OMIM:608776 |
Ring Chromosome 22 Syndrome |
|
Pleural effusion, Edema, Lymphedema |
ORPHA:1446 |
Tempi Syndrome |
|
Intracranial hemorrhage, Transudative pleural effusion, Ascites, Telangiectasia |
ORPHA:284227 |
Boomerang Dysplasia |
|
Hydrops fetalis, Polyhydramnios |
ORPHA:1263 |
Monosomy 18P |
|
Hypertension, Lymphedema |
ORPHA:1598 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Ascites |
OMIM:615122 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Splenomegaly, Hydrops fetalis |
ORPHA:766 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Decreased fetal movement, Hydrops fetalis, Polyhydramnios |
OMIM:255320 |
German Syndrome |
|
Lymphedema |
ORPHA:2077 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Intestinal lymphangiectasia, Generalized edema |
OMIM:207731 |
Parkes Weber Syndrome |
|
Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarachnoid hemorrhage, V... |
ORPHA:90307 |
Cantu Syndrome |
|
Pericardial effusion, Lymphedema |
OMIM:239850 |
Combined Oxidative Phosphorylation Defect Type 27 |
|
Nonimmune hydrops fetalis |
ORPHA:477774 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Left axis deviation, Pericardial effusion, Congestive heart failure, ST se... |
OMIM:261740 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Portal hypertension, Congestive heart fa... |
ORPHA:367 |
Ovarian Fibroma |
|
Pleural effusion, Ascites |
ORPHA:314473 |
Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Lymphedema, Abnormality of the lymphatic system, Chylopericardium, L... |
ORPHA:538 |
Hemochromatosis, Neonatal |
|
Nonimmune hydrops fetalis, Oligohydramnios |
OMIM:231100 |
Dengue Fever |
|
Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Cerebral hemorrhage, Hypotension, Ascites |
ORPHA:99828 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Pericardial lymphangiectasia, Nonimmune hydrops fetalis, Lymphedema, Periorbital edema, Pericardi... |
OMIM:235510 |
Combined Oxidative Phosphorylation Deficiency 5 |
|
Hypertrophic cardiomyopathy, Ascites, Edema |
OMIM:611719 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Lymphedema |
OMIM:152950 |
Desmoplastic Small Round Cell Tumor |
|
Hepatomegaly, Mediastinal lymphadenopathy, Ascites, Lymphadenopathy |
ORPHA:83469 |
Wolman Disease |
|
Splenomegaly, Ascites, Hepatomegaly |
ORPHA:75233 |
Mulibrey Nanism |
|
Hepatomegaly, Ascites, Hydrops fetalis, Congestive heart failure |
OMIM:253250 |
Lymphedema-Distichiasis Syndrome |
|
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphedema, Chylothorax, Arrhythmia |
OMIM:153400 |
Campomelia, Cumming Type |
|
Hepatomegaly, Oligohydramnios, Hydrops fetalis, Lymphedema |
ORPHA:1318 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Palpebral edema, Edema, Pulmonary embolism, Facial edema, Pedal edema, Hypertension, Anasarca, Pl... |
ORPHA:567546 |
Achondrogenesis, Type Ii |
|
Polyhydramnios, Stillbirth, Hydrops fetalis, Edema |
OMIM:200610 |
Hypocomplementemic Urticarial Vasculitis |
|
Hepatomegaly, Pericardial effusion, Splenomegaly, Angioedema, Lymphadenopathy, Small vessel vascu... |
ORPHA:36412 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Nonimmune hydrops fetalis, Hypertension, Second degree atrioventricular block, Pulmonary arterial... |
OMIM:617021 |
Lymphatic Malformation 13 |
|
Nonimmune hydrops fetalis, Lymphedema, Mitral regurgitation, Pulmonary arterial hypertension, Asc... |
OMIM:620244 |
Congenital Enterovirus Infection |
|
Decreased fetal movement, Premature birth, Fetal ascites, Polyhydramnios, Pericardial effusion, H... |
ORPHA:292 |
Galactosialidosis |
|
Cherry red spot of the macula, Nonimmune hydrops fetalis, Hepatosplenomegaly |
OMIM:256540 |
Clapo Syndrome |
|
Lymphangioma, Lymphedema |
ORPHA:168984 |
Griscelli Syndrome |
|
Hepatomegaly, Splenomegaly, Pedal edema, Lymphadenopathy, Ascites |
ORPHA:381 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Pedal edema, Left bund... |
ORPHA:75565 |
Noonan Syndrome 13 |
|
Mitral regurgitation, Lymphedema |
OMIM:619087 |
Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Ascites |
ORPHA:131 |
Dahlberg-Borer-Newcomer Syndrome |
|
Lymphedema |
ORPHA:1563 |
Hennekam Syndrome |
|
Lymphedema, Pericardial effusion, Splenomegaly, Pulmonary lymphangiectasia, Hydrops fetalis, Lymp... |
ORPHA:2136 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Portal hypertension, Hypersplenism, Lymphadenopathy, Hepatosplenomeg... |
ORPHA:98850 |
Infantile Systemic Hyalinosis |
|
Telangiectasia of the skin, Aplasia/Hypoplasia of the thymus, Lymphedema |
ORPHA:2176 |
Niemann-Pick Disease, Type A |
|
Hepatomegaly, Splenomegaly, Ascites, Lymphadenopathy |
OMIM:257200 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Splenomegaly, Ascites, Hepatomegaly |
OMIM:602347 |
Carney Triad |
|
Gastrointestinal hemorrhage, Tachycardia, Mediastinal lymphadenopathy, Lymphadenopathy, Hypertens... |
ORPHA:139411 |
Alg8-Cdg |
|
Premature birth, Edema, Hydrops fetalis, Ascites, Oligohydramnios |
ORPHA:79325 |
Eosinophilic Gastroenteritis |
|
Hematochezia, Ascites, Edema |
ORPHA:2070 |
Lymphatic Filariasis |
|
Predominantly lower limb lymphedema, Lymphedema, Lymphadenitis, Abnormality of the lymphatic syst... |
ORPHA:2035 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Polyhydramnios, Hydrops fetalis, Single umbilical artery, Pleural effusion, Ascites |
OMIM:616897 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hydrops fetalis |
OMIM:616738 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Neonatal death, Premature birth, Nonimmune hydrops fetalis |
OMIM:618835 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Neonatal death, Premature birth, Nonimmune hydrops fetalis |
OMIM:618839 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Premature birth, Nonimmune hydrops fetalis |
OMIM:618838 |
Pseudo-Torch Syndrome 2 |
|
Hepatomegaly, Cerebral hemorrhage, Bradycardia, Pleural effusion, Ascites |
OMIM:617397 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Pleural effusion, Ascites, Nonimmune hydrops fetalis |
OMIM:617049 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Ascites, Edema, Oligohydramnios |
OMIM:608104 |
Distal Xq28 Microduplication Syndrome |
|
Predominantly lower limb lymphedema, Epistaxis, Upper eyelid edema |
ORPHA:293939 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Pericardial effusion, Splenomegaly, Hypersplenism, Pedal edema, Pulmonary arterial ... |
ORPHA:77259 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Pericardial effusion, Hypoplastic spleen, Hypoplasia of the thymus, Nonimmune hydrops fetalis |
OMIM:619313 |
Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Portal hypertension, Hypersplenism, Splenomegaly, Ascites |
ORPHA:64743 |
Congenital Sialidosis Type 2 |
|
Hepatomegaly, Abnormal EKG, Edema, Hepatosplenomegaly, Telangiectasia, Ascites |
ORPHA:93400 |
Trisomy 1Q |
|
Increased nuchal translucency, Patent ductus arteriosus, Hydrops fetalis, Polyhydramnios |
ORPHA:261344 |
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Pericarditis, Ascites, Mitral regurgitation |
ORPHA:2848 |
Necrotizing Enterocolitis |
|
Shock, Edema, Bradycardia, Hypotension, Ascites |
ORPHA:391673 |
Ovarian Fibrothecoma |
|
Pleural effusion, Ascites |
ORPHA:314478 |
Pediatric Systemic Lupus Erythematosus |
|
Edema, Pericardial effusion, Raynaud phenomenon, Lymphadenopathy, Pleural effusion, Ascites |
ORPHA:93552 |
Combined Oxidative Phosphorylation Deficiency 57 |
|
Neonatal death, Nonimmune hydrops fetalis, Fetal pleural effusion |
OMIM:620167 |
Gracile Bone Dysplasia |
|
Asplenia, Hypoplastic spleen, Ascites |
OMIM:602361 |
Cirrhosis, Familial |
|
Hypertension, Ascites, Pulmonary arterial hypertension |
OMIM:215600 |
Poems Syndrome |
|
Edema, Pericardial effusion, Lymphadenopathy, Pulmonary arterial hypertension, Pleural effusion, ... |
ORPHA:2905 |
Trisomy 13 |
|
Patent ductus arteriosus, Hydrops fetalis |
ORPHA:3378 |
Phakomatosis Pigmentokeratotica |
|
Raynaud phenomenon, Arrhythmia, Lymphedema |
ORPHA:2874 |
Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Fetal akinesia sequence, Hydrops fetalis, Hypoplasia of the thymus, Oligohydram... |
OMIM:617022 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Polyhydramnios, Lymphedema, Splenomegaly, Hepatosplenomegaly, Mitral regurgitation, Chylothorax, ... |
OMIM:613563 |
Reynolds Syndrome |
|
Hepatomegaly, Telangiectasia of the skin, Xerostomia, Ascites, Mucosal telangiectasiae |
ORPHA:779 |
Platyspondylic Dysplasia, Torrance Type |
|
Hydrops fetalis, Polyhydramnios |
ORPHA:85166 |
Gaucher Disease, Perinatal Lethal |
|
Decreased fetal movement, Premature birth, Nonimmune hydrops fetalis, Polyhydramnios, Splenomegal... |
OMIM:608013 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Right ventricular failure, Heart murmur, Pal... |
ORPHA:100085 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Lymphedema |
ORPHA:79280 |
Takenouchi-Kosaki Syndrome |
|
Pulmonic stenosis, Lymphedema |
OMIM:616737 |
Farber Disease |
|
CNS foam cells, Hydrops fetalis, Lymphadenopathy, Hepatosplenomegaly, Joint swelling, Cherry red ... |
ORPHA:333 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Pericarditis, Edema, Portal hypertension, Pericardial effusion, Hepatosplenomegaly,... |
OMIM:619487 |
Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Angina pectoris, Transient ischemic attack, Tel... |
ORPHA:324 |
Gm1 Gangliosidosis |
|
Premature birth, Splenomegaly, Patent ductus arteriosus, Hydrops fetalis, Hepatosplenomegaly, Che... |
ORPHA:354 |
Classic Galactosemia |
|
Hepatomegaly, Ascites |
ORPHA:79239 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Intracranial hemorrhage, Telangiectasia, Angina pectoris, Lymphedema |
ORPHA:109 |
Phelan-Mcdermid Syndrome |
|
Palpebral edema, Lymphedema |
OMIM:606232 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Retin... |
ORPHA:464321 |
Achondrogenesis, Type Ia |
|
Polyhydramnios, Increased nuchal translucency, Hydrops fetalis, Stillbirth, Absence of stomach bu... |
OMIM:200600 |
Sclerosing Cholangitis, Neonatal |
|
Splenomegaly, Ascites, Portal hypertension, Hepatomegaly |
OMIM:617394 |
Fraser Syndrome 3 |
|
Sonographic non-visualized fetal bladder, Nonimmune hydrops fetalis, Stillbirth, Ascites, Oligohy... |
OMIM:617667 |
Cerebrofacioarticular Syndrome |
|
Pulmonic stenosis, Lymphedema |
ORPHA:314679 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Lymphedema |
OMIM:300291 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Polyhydramnios, Pericardial effusion, Hematochezia, Anasarca, Pleural effusion, Ascites |
OMIM:618183 |
Noonan Syndrome |
|
Hepatomegaly, Lymphedema, Abnormality of the spleen, Abnormality of the lymphatic system, Arrhythmia |
ORPHA:648 |
Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Splenomegaly, Ascites, Spider hemangioma |
ORPHA:2137 |
Gm1-Gangliosidosis, Type I |
|
Splenomegaly, Cherry red spot of the macula, Hydrops fetalis |
OMIM:230500 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Splenomegaly, Nonimmune hydrops fetalis |
OMIM:266200 |
Schneckenbecken Dysplasia |
|
Stillbirth, Nonimmune hydrops fetalis, Polyhydramnios |
OMIM:269250 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Orthostatic hypotension, Lymphedema |
ORPHA:2822 |
Mosaic Trisomy 9 |
|
Polyhydramnios, Asplenia, Patent ductus arteriosus, Hydrops fetalis, Single umbilical artery, Oli... |
ORPHA:99776 |
Lymphedema-Distichiasis Syndrome |
|
Arrhythmia, Predominantly lower limb lymphedema |
ORPHA:33001 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatomegaly, Portal hypertension, Absence of lymph node germinal center, Hepatosplenomegaly, Asc... |
ORPHA:79124 |
Eisenmenger Syndrome |
|
Ventricular tachycardia, Pedal edema, Supraventricular tachycardia, Hepatomegaly, Tricuspid regur... |
ORPHA:97214 |
Cardiofaciocutaneous Syndrome |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis, Lymphedema |
ORPHA:1340 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Polyhydramnios, Splenomegaly, Pancreatic lymphangiectasis, Pulmonary lymphangiectas... |
ORPHA:1655 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Nonimmune hydrops fetalis |
OMIM:618265 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Abnormality of the amniotic fluid, Hydrops fetalis |
OMIM:609015 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Splenomegaly, Hydrops fetalis |
OMIM:224120 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Single umbilical artery, Hydrops fetalis, Increased placental thickness |
ORPHA:1865 |
Greenberg Dysplasia |
|
Nonimmune hydrops fetalis, Polyhydramnios, Echogenic fetal bowel, Large placenta, Increased nucha... |
OMIM:215140 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Nonimmune hydrops fetalis |
OMIM:618052 |
Immunodeficiency 22 |
|
Pericarditis, Ascites, Capillary leak |
OMIM:615758 |
Osteogenesis Imperfecta, Type Ii |
|
Premature birth, Nonimmune hydrops fetalis |
OMIM:166210 |
Familial Mediterranean Fever |
|
Pericarditis, Myocardial infarction, Splenomegaly, Vasculitis, Pedal edema, Lymphadenopathy, Arrh... |
ORPHA:342 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Ascites, Hydrops fetalis |
OMIM:614091 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Thickened nuchal skin fold, Nonimmune hydrops fetalis, Polyhydramnios, Asplenia, Pulmonary artery... |
OMIM:265380 |
Fibrochondrogenesis 1 |
|
Stillbirth, Hydrops fetalis |
OMIM:228520 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Abnormal left ventricular function, Internal hemorrhage, Hepatomegaly, Peric... |
ORPHA:99827 |
Gm1 Gangliosidosis Type 1 |
|
Cherry red spot of the macula, Hydrops fetalis, Abnormal placenta morphology, Hepatosplenomegaly |
ORPHA:79255 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Splenomegaly, Ascites, Portal hypertension, Hepatomegaly |
OMIM:251880 |
Kasabach-Merritt Syndrome |
|
Abnormal lymphatic vessel morphology |
ORPHA:2330 |
Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Pulmonary arterial hypertension, Ascites, Portal hypertension |
ORPHA:974 |
Hereditary Elliptocytosis |
|
Splenomegaly, Hydrops fetalis |
ORPHA:288 |
Kanzaki Disease |
|
Lacunar stroke, Telangiectasia of the oral mucosa, Lip telangiectasia, Lymphedema |
OMIM:609242 |
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
|
Predominantly lower limb lymphedema |
OMIM:604121 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hydrops fetalis |
ORPHA:88618 |
Oculoectodermal Syndrome |
|
Hypertrophic cardiomyopathy, Transient ischemic attack, Lymphedema |
OMIM:600268 |
Gallbladder Neuroendocrine Tumor |
|
Ascites, Chronic noninfectious lymphadenopathy |
ORPHA:100086 |
Ogden Syndrome |
|
Lymphedema, Ventricular tachycardia, Oligohydramnios, Premature ventricular contraction, Torsade ... |
OMIM:300855 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Pleural effusion, Chylothorax, Edema, Lymphedema |
ORPHA:2526 |
Granulomatous Disease, Chronic, X-Linked |
|
Hepatomegaly, Splenomegaly, Lymphadenitis, Lymphadenopathy, Pleural effusion, Ascites |
OMIM:306400 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Abnormality of the lymphatic system, Lymphedema |
ORPHA:487796 |
Wolcott-Rallison Syndrome |
|
Hepatomegaly, Ascites, Dehydration |
ORPHA:1667 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Aortic valve stenosis, Pulmonic stenosis, Lymphedema |
ORPHA:536471 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Splenomegaly, Hydrops fetalis, Hepatosplenomegaly |
OMIM:613673 |
Mucopolysaccharidosis, Type Vii |
|
Splenomegaly, Hydrops fetalis |
OMIM:253220 |
Atresia Of Urethra |
|
Pulmonary insufficiency, Ascites, Oligohydramnios |
ORPHA:105 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Nonimmune hydrops fetalis, Edema, Pericardial effusion, Stroke-like episode, Abnormality of the a... |
OMIM:212065 |
Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Ascites, Polysplenia |
OMIM:200995 |
Blomstrand Lethal Chondrodysplasia |
|
Premature birth, Hydrops fetalis, Polyhydramnios, Coarctation of aorta |
ORPHA:50945 |
Immunodeficiency 87 And Autoimmunity |
|
Hepatomegaly, Cervical lymphadenopathy, Dilated cardiomyopathy, Hypertension, Anasarca, Third deg... |
OMIM:619573 |
Congenital Myopathy 22B, Severe Fetal |
|
Decreased fetal movement, Nonimmune hydrops fetalis, Polyhydramnios, Breech presentation, Pleural... |
OMIM:620369 |
Alg9-Cdg |
|
Thickened nuchal skin fold, Decreased fetal movement, Pericardial effusion, Hydrops fetalis, Abno... |
ORPHA:79328 |
Schneckenbecken Dysplasia |
|
Polyhydramnios, Lymphedema |
ORPHA:3144 |
Perlman Syndrome |
|
Ascites, Polyhydramnios, Visceromegaly, Edema |
OMIM:267000 |
Mycophenolate Mofetil Embryopathy |
|
Hydrops fetalis, Coarctation of aorta |
ORPHA:268249 |
Mgat2-Cdg |
|
Patent ductus arteriosus, Hydrops fetalis |
ORPHA:79329 |
Spondyloocular Syndrome |
|
Lymphedema |
OMIM:605822 |
Lysosomal Acid Lipase Deficiency |
|
Hypersplenism, Hypovolemia, Dehydration, Hepatosplenomegaly, Hypotension, Pulmonary arterial hype... |
ORPHA:275761 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Fetal polyuria, Premature birth, Polyhydramnios, Edema, Hydrops fetalis |
OMIM:602522 |
Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Polyhydramnios, Edema, Splenomegaly, Ascites |
OMIM:269860 |
Tyrosinemia, Type I |
|
Gastrointestinal hemorrhage, Hepatomegaly, Splenomegaly, Melena, Hypertrophic cardiomyopathy, Asc... |
OMIM:276700 |
Caroli Disease |
|
Splenomegaly, Ascites, Portal hypertension, Hepatomegaly |
ORPHA:53035 |
Peripheral Primitive Neuroectodermal Tumor |
|
Ascites, Pelvic mass |
ORPHA:370348 |
Costello Syndrome |
|
Lymphangiectasis, Premature birth, Polyhydramnios |
OMIM:218040 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Bilateral fetal pyelectasis, Polyhydramnios, Breech presentation, Patent ductus arteriosus, Hydro... |
OMIM:300868 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Stroke, Subdural hemorrhage, Hydrops fetalis, Dehydration |
ORPHA:79282 |
Functioning Gonadotropic Adenoma |
|
Ascites |
ORPHA:91348 |
Xfe Progeroid Syndrome |
|
Hypertension, Ascites |
OMIM:610965 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Splenomegaly, Ascites, Hepatosplenomegaly |
OMIM:259720 |
Intrahepatic Cholestasis Of Pregnancy |
|
Ascites |
ORPHA:69665 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Congestive heart failure, Ascites, Polyhydramnios |
OMIM:617156 |
Senior-Boichis Syndrome |
|
Hypertension, Ascites, Portal hypertension, Hepatosplenomegaly |
ORPHA:84081 |
Autoimmune Lymphoproliferative Syndrome |
|
Chronic noninfectious lymphadenopathy, Hypersplenism, Splenomegaly, Vasculitis, Hydrops fetalis, ... |
ORPHA:3261 |
Gaucher Disease Type 3 |
|
Pericardial effusion, Splenomegaly, Hydrops fetalis |
ORPHA:77261 |
Fetal Akinesia Deformation Sequence 1 |
|
Decreased fetal movement, Premature birth, Nonimmune hydrops fetalis, Polyhydramnios, Fetal akine... |
OMIM:208150 |
Grfoma |
|
Gastrointestinal hemorrhage, Hepatomegaly, Neoplasm of the thymus, Abnormal abdomen morphology, A... |
ORPHA:97261 |
Primary Sclerosing Cholangitis |
|
Hepatomegaly, Spider hemangioma, Portal hypertension, Splenomegaly, Congestive heart failure, Hep... |
ORPHA:171 |
Cardiac Valvular Dysplasia 1 |
|
Edema, Arteria lusoria, Hydrops fetalis, Left aortic arch with cervical origin of the right subcl... |
OMIM:212093 |
Generalized Arterial Calcification Of Infancy |
|
Medial calcification of large arteries, Transient ischemic attack, Coronary artery calcification,... |
ORPHA:51608 |
Mitchell-Riley Syndrome |
|
Ascites |
OMIM:615710 |
Proteus Syndrome |
|
Thymus hyperplasia, Sudden cardiac death, Lymphedema, Neoplasm of the thymus, Splenomegaly, Pulmo... |
ORPHA:744 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Predominantly lower limb lymphedema |
ORPHA:314404 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Decreased fetal movement, Hydrops fetalis |
OMIM:265000 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Hydrops fetalis, Polyhydramnios |
OMIM:616546 |
Wilson Disease |
|
Hepatomegaly, Edema, Splenomegaly, Pedal edema, Ascites |
OMIM:277900 |
Primary Biliary Cholangitis |
|
Orthostatic hypotension, Ascites, Portal hypertension |
ORPHA:186 |
Cranioectodermal Dysplasia 2 |
|
Polyhydramnios, Splenomegaly, Patent ductus arteriosus, Hydrops fetalis, Polysplenia |
OMIM:613610 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Periorbital edema, Ascites, Hypoplasia of the thymus, Accessory spleen |
OMIM:613177 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Splenomegaly, Ascites, Hepatomegaly |
OMIM:301072 |
Noonan Syndrome 1 |
|
Hypertrophic cardiomyopathy, Chylothorax, Pulmonic stenosis, Lymphedema |
OMIM:163950 |
Ppoma |
|
Gastrointestinal hemorrhage, Hepatomegaly, Ascites, Abnormal abdomen morphology |
ORPHA:97278 |
Fumarase Deficiency |
|
Ascites, Polyhydramnios |
OMIM:606812 |
Pearson Syndrome |
|
Splenomegaly, Hydrops fetalis, Dehydration, Corneal stromal edema, Hypoplastic spleen |
ORPHA:699 |
Monosomy 22Q13.3 |
|
Palpebral edema, Lymphedema |
ORPHA:48652 |
Niemann-Pick Disease Type C |
|
Fetal ascites, Bone-marrow foam cells, Splenomegaly, Hydrops fetalis, Hepatosplenomegaly, Foam ce... |
ORPHA:646 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Prolonged QT interval, Hypertension, Myocardial infarction, Lymphedema |
ORPHA:99413 |
Turner Syndrome |
|
Prolonged QT interval, Hypertension, Myocardial infarction, Lymphedema |
ORPHA:881 |
Mosaic Monosomy X |
|
Prolonged QT interval, Hypertension, Myocardial infarction, Lymphedema |
ORPHA:99228 |
Monosomy X |
|
Prolonged QT interval, Hypertension, Myocardial infarction, Lymphedema |
ORPHA:99226 |
Vipoma |
|
Hepatomegaly, Abnormal abdomen morphology, Dehydration, Hematochezia, Ascites |
ORPHA:97282 |
Mosaic Variegated Aneuploidy Syndrome |
|
Aortic regurgitation, Increased nuchal translucency, Ascites, Polyhydramnios |
ORPHA:1052 |
Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Portal hypertension, Hypersplenism, Splenomegaly, Hepatosplenomegaly... |
ORPHA:731 |
Pearson Marrow-Pancreas Syndrome |
|
Hydrops fetalis, Dehydration |
OMIM:557000 |
Somatostatinoma |
|
Gastrointestinal hemorrhage, Hepatomegaly, Ascites, Abnormal abdomen morphology |
ORPHA:97283 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Hydrops fetalis |
OMIM:263520 |
Hepatoerythropoietic Porphyria |
|
Splenomegaly, Abnormality of the amniotic fluid, Nonimmune hydrops fetalis, Edema |
ORPHA:95159 |
Phocomelia, Schinzel Type |
|
Hydrops fetalis |
ORPHA:2879 |
Cutis Marmorata Telangiectatica Congenita |
|
Ascites, Telangiectasia of the skin |
ORPHA:1556 |
Glucagonoma |
|
Gastrointestinal hemorrhage, Hepatomegaly, Ascites, Abnormal abdomen morphology |
ORPHA:97280 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Hepatomegaly, Ascites |
OMIM:256810 |
Yunis-Varon Syndrome |
|
Polyhydramnios, Increased nuchal translucency, Hydrops fetalis, Renal artery stenosis, Tetralogy ... |
ORPHA:3472 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Hepatomegaly, Anasarca, Ascites |
OMIM:203700 |
Gaucher Disease |
|
Splenomegaly, Cherry red spot of the macula, Hydrops fetalis |
ORPHA:355 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Anasarca, Ascites, Portal hypertension, Oligohydramnios |
OMIM:613658 |
Congenital Erythropoietic Porphyria |
|
Splenomegaly, Abnormality of the amniotic fluid, Nonimmune hydrops fetalis, Edema |
ORPHA:79277 |
Diamond-Blackfan Anemia |
|
Radial artery aplasia, Nonimmune hydrops fetalis, Coarctation of aorta |
ORPHA:124 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Aortic regurgitation, Hepatomegaly, Tricuspid regurgitation, Left-to-right shunt, Cardiac arrest,... |
OMIM:619534 |
Liver Disease, Severe Congenital |
|
Hepatomegaly, Splenomegaly, Abnormal left ventricular function, Ascites, Systolic heart murmur, P... |
OMIM:619991 |
Pmm2-Cdg |
|
Pericarditis, Angina pectoris, Lymphedema, Pericardial effusion, Intracranial hemorrhage, Anasarc... |
ORPHA:79318 |
Johanson-Blizzard Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Dilated cardiomyopathy, Anasarca, Ascites, Gener... |
OMIM:243800 |
Chronic Graft Versus Host Disease |
|
Pleural effusion, Ascites, Xerostomia |
ORPHA:99921 |
Yunis-Varon Syndrome |
|
Tetralogy of Fallot, Premature birth, Hydrops fetalis, Polyhydramnios |
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 |