Lymphangioleiomyomatosis |
|
Pulmonary lymphangiomyomatosis |
OMIM:606690 |
Ascites, Chylous |
|
Chylous ascites |
OMIM:208300 |
Lymphatic Malformation 9 |
|
Tortuous lymphatic vessels, Predominantly lower limb lymphedema |
OMIM:619319 |
Nuchal Bleb, Familial |
|
Stillbirth, Fetal cystic hygroma, Hydrops fetalis |
OMIM:257350 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Hepatomegaly, Fetal ascites, Polyhydramnios, Splenomegaly, Hydrops fetalis, Fetal pericardial eff... |
OMIM:619462 |
Gjc2-Related Late-Onset Primary Lymphedema |
|
Genital edema, Predominantly lower limb lymphedema, Edema of the dorsum of hands, Facial edema, V... |
ORPHA:568051 |
Hydrops Fetalis, Nonimmune |
|
Congestive heart failure, Nonimmune hydrops fetalis, Hydrops fetalis |
OMIM:236750 |
Yellow Nail Syndrome |
|
Hypoplasia of lymphatic vessels, Predominantly lower limb lymphedema, Lymphedema |
OMIM:153300 |
Lymphatic Malformation 5 |
|
Facial edema, Hypoplasia of lymphatic vessels, Predominantly lower limb lymphedema |
OMIM:153200 |
Fetal Parvovirus Syndrome |
|
Hypertrophic cardiomyopathy, Increased nuchal translucency, Ascites, Hydrops fetalis |
ORPHA:295 |
Ovarian Hyperstimulation Syndrome |
|
Ascites |
OMIM:608115 |
Chylous Ascites |
|
Ascites, Abnormal intestine morphology, Pancreatitis, Lymphedema |
ORPHA:1160 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Hepatomegaly, Pulmonary insufficiency, Tricuspid regurgitation, Hydrops fetalis, Pulmonic stenosi... |
OMIM:619433 |
Lipedema |
|
Lipedema, Edema |
OMIM:614103 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... |
OMIM:618773 |
Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Lymphedema, Malabsorption, Splenomegaly, Jaundice, C... |
OMIM:214900 |
Lymphatic Malformation 1 |
|
Prominent superficial veins, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Hypo... |
OMIM:153100 |
Cholestasis-Lymphedema Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Lymphedema, Splenomegaly, Jaundic... |
ORPHA:1414 |
Lymphangiectasia, Pulmonary, Congenital |
|
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... |
OMIM:265300 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Hydrops Fetalis |
|
Abnormality of the gastrointestinal tract, Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema,... |
ORPHA:1041 |
Follicular Lymphoma |
|
Abnormal peritoneum morphology, Lymphedema, Splenomegaly, Mediastinal lymphadenopathy, Lymphadeno... |
ORPHA:545 |
Lymphatic Malformation 3 |
|
Cellulitis, Lymphedema |
OMIM:613480 |
Long Qt Syndrome 3 |
|
Ventricular flutter, Nonimmune hydrops fetalis, Sudden cardiac death, Ventricular tachycardia, Hy... |
OMIM:603830 |
Congenital Pulmonary Lymphangiectasia |
|
Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Congestive heart failure, Hydrops fetalis, C... |
ORPHA:2414 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Hydrops fetalis, Nonimmune hydrops fetalis, Polyhydramnios |
OMIM:613124 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal large intestine morphology, Esophageal neopla... |
ORPHA:2198 |
Lymphatic Malformation 11 |
|
Pedal edema, Lymphedema |
OMIM:619401 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Abnormal small intestine morphology, Malabsorption, Splenomegaly, Lymphadenopathy, ... |
ORPHA:100025 |
Lymphatic Malformation 12 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Fetal ascites, Death in adolescence, Fetal... |
OMIM:620014 |
Idiopathic Neonatal Atrial Flutter |
|
Abnormal EKG, Abnormal atrioventricular conduction, Hydrops fetalis, Abnormal left ventricular fu... |
ORPHA:45452 |
Pseudomyxoma Peritonei |
|
Abnormal peritoneum morphology, Intestinal obstruction, Lymphadenopathy, Inflammation of the larg... |
ORPHA:26790 |
Developmental And Epileptic Encephalopathy 96 |
|
Death in infancy, Hydrops fetalis |
OMIM:619340 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Polyhydramnios, Splenomegaly, Congestive heart failure, Hydrops fetal... |
ORPHA:163596 |
Secondary Intestinal Lymphangiectasia |
|
Intestinal obstruction, Intestinal lymphedema, Increased stool alpha1-antitrypsin concentration, ... |
ORPHA:90363 |
Meige Disease |
|
Predominantly lower limb lymphedema, Edema of the dorsum of hands, Facial edema, Periorbital edem... |
ORPHA:90186 |
Angioedema, Hereditary, 6 |
|
Facial edema, Angioedema, Edema of the dorsum of hands |
OMIM:619363 |
Lymphedema And Cerebral Arteriovenous Anomaly |
|
Pulmonary arterial hypertension, Lymphedema |
OMIM:152900 |
Glycogen Storage Disease Iv |
|
Polyhydramnios, Portal hypertension, Edema, Esophageal varix, Hydrops fetalis, Hepatosplenomegaly... |
OMIM:232500 |
Choanal Atresia And Lymphedema |
|
Pericardial effusion, High palate, Lymphedema |
OMIM:613611 |
Congenital Heart Block |
|
Premature birth, First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Conges... |
ORPHA:60041 |
Indomethacin Embryofetopathy |
|
Cardiomyopathy, Premature birth, Hydrops fetalis, Oligohydramnios |
ORPHA:1909 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome |
|
Lymphedema |
ORPHA:69061 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Splenomegaly, Hepatomegaly, Hydrops fetalis, Polyhydramnios |
ORPHA:2204 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Pericardial lymphangiectasia, Lymphedema, Pulmonary lymphangiectasia, Camptodactyly, Intestinal l... |
OMIM:616006 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Plantar telangiectasia, Predominantly lower limb lymphedema, Palpebral edema, Abnormality of the ... |
ORPHA:69735 |
Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites |
OMIM:271500 |
Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Hepatomegaly, Malabsorption, Lymphedema, Splenomegaly, Furrowed tongue, Ham... |
ORPHA:2930 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death, Hydrops fetalis |
OMIM:276822 |
Lymphatic Malformation 4 |
|
Cellulitis, Pedal edema, Lymphedema |
OMIM:615907 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Splenomegaly, Intrahepatic cholestasi... |
OMIM:602347 |
Portal Hypertension, Noncirrhotic, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative... |
OMIM:619463 |
Nephrosialidosis |
|
Pericardial effusion, Ascites |
OMIM:256150 |
Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Elevated hepatic transaminase,... |
ORPHA:131 |
Chondrodysplasia, Blomstrand Type |
|
Premature birth, Fetal ascites, Polyhydramnios, Hydrops fetalis, Stillbirth, Preductal coarctatio... |
OMIM:215045 |
Lymphatic Malformation 2 |
|
Lymphedema |
OMIM:611944 |
Kaposi Sarcoma |
|
Abnormality of the gastrointestinal tract, Generalized lymphadenopathy, Lymphedema, Abnormality o... |
ORPHA:33276 |
Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Premature birth, Polyhydramnios, Hydrops fetalis, Ascites |
ORPHA:2123 |
Lymphatic Malformation 6 |
|
Genital edema, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Polyhydramnios, Perior... |
OMIM:616843 |
Fetal Gaucher Disease |
|
Death in infancy, Decreased fetal movement, Fetal akinesia sequence, Abnormality of the spleen, S... |
ORPHA:85212 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Polycystic liver disease, Polysplenia, Lymphedema |
OMIM:211890 |
Lymphangiectasia, Intestinal |
|
Intestinal lymphangiectasia, Stillbirth, Edema, Pedal edema |
OMIM:152800 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
Sialidosis Type 2 |
|
Hepatomegaly, Inguinal hernia, Splenomegaly, Flexion contracture, Hydrops fetalis, Pedal edema, U... |
ORPHA:87876 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Hepatomegaly, Nonimmune hydrops fetalis, Splenomegaly, Cardiomyopathy, Abnormality of the amnioti... |
OMIM:608540 |
Achondrogenesis, Type Ib |
|
Polyhydramnios, Edema, Breech presentation, Hydrops fetalis, Stillbirth |
OMIM:600972 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Single umbilical artery, Abnormal aortic morphology, Hydrops fetalis, Polyhydramnios |
ORPHA:3405 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Premature birth, Splenomegaly, Congestive heart failure, Hydrops fetalis, Ascites |
OMIM:269920 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Decreased liver fu... |
OMIM:301045 |
Lissencephaly 2 |
|
Lymphedema |
OMIM:257320 |
Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Elevated hepatic transaminase, Portal hypertension, Nodular regenera... |
ORPHA:64743 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Lissencephaly 7 With Cerebellar Hypoplasia |
|
Neonatal death, Arthrogryposis multiplex congenita, Lymphedema |
OMIM:616342 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Fetal akinesia sequence, Dilated cardiomyopathy, Hydrops fetalis, Bradycardia, Hypertrophic cardi... |
OMIM:618815 |
Focal Segmental Glomerulosclerosis 1 |
|
Hypertension, Pleural effusion, Ascites, Edema |
OMIM:603278 |
Hepatic Veno-Occlusive Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Ascites |
ORPHA:890 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Intestinal obstruction, Edema, Pulmonary embolism, Malabsorption, Abnormal intestin... |
OMIM:226300 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hepatomegaly, Telangiectasia of the skin, Lymphedema, Telangiectasia, Hypertrophic cardiomyopathy |
ORPHA:79279 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Inguinal hernia, Polyhydramnios, Lymphedema, Thyroid lymphangiectasia, Splenomegaly... |
OMIM:235255 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Portal hy... |
ORPHA:367 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphedema, Malabsorption |
ORPHA:1116 |
Lymphedema, Primary, With Myelodysplasia |
|
Cellulitis, Lymphedema |
OMIM:614038 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Protein-losing enteropathy, Polyhydramnios, Lymphedema |
OMIM:618154 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Lymphedema, Splenomegaly, Lymphadenopathy, Intracranial hemorrhage |
ORPHA:3226 |
Melorheostosis |
|
Atypical scarring of skin, Lymphedema |
ORPHA:2485 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Ascites, Polycystic liver disease |
OMIM:174050 |
Primary Intestinal Lymphangiectasia |
|
Edema, Pericardial effusion, Abnormal lymphatic vessel morphology, Pleural effusion, Intestinal l... |
ORPHA:90362 |
Cinca Syndrome |
|
Hepatosplenomegaly, Lymphadenopathy, Lymphedema |
OMIM:607115 |
Alpha-Thalassemia |
|
Hypersplenism, Splenomegaly, Hydrops fetalis |
ORPHA:846 |
Familial Atrial Myxoma |
|
Tricuspid regurgitation, Congestive heart failure, Jaundice, Heart murmur, Pedal edema, Cholestas... |
ORPHA:615 |
Transaldolase Deficiency |
|
Telangiectasia, Hydrops fetalis, Edema, Hepatosplenomegaly |
ORPHA:101028 |
Yellow Nail Syndrome |
|
Biliary tract neoplasm, Pulmonary arterial hypertension, Hypoplasia of lymphatic vessels, Lymphedema |
ORPHA:662 |
Congenital Toxoplasmosis |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Lymphadenopathy, Ascites |
ORPHA:858 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Splenomegaly, Ascites, Polyhydramnios, Oligohydramnios |
ORPHA:1046 |
Maternal Uniparental Disomy Of Chromosome X |
|
Predominantly lower limb lymphedema, Camptodactyly of finger, Congestive heart failure, Flexion c... |
ORPHA:261519 |
Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Congestive heart failure, Splenomegaly, Telangiectas... |
OMIM:235200 |
Wolman Disease |
|
Hepatomegaly, Splenomegaly, Hepatic failure, Esophageal varix, Steatorrhea, Ascites |
ORPHA:75233 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Nonimmune hydrops fetalis, Cardiac arrest, Left v... |
OMIM:618052 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Jejunal atresia, Intestinal malrotation, Malabsorption, Biliary atresia, Chol... |
OMIM:615710 |
Mucopolysaccharidosis Type 7 |
|
Inguinal hernia, Lymphedema, Splenomegaly, Hydrops fetalis, Hepatitis, Umbilical hernia, Ascites |
ORPHA:584 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Edema, Pulmonary embolism, Congestive heart failure, H... |
ORPHA:90308 |
Campomelia, Cumming Type |
|
Hepatomegaly, Lymphedema, Pancreatic cysts, Abnormality of the pancreas, Hydrops fetalis, Cleft p... |
ORPHA:1318 |
Lymphatic Malformation 10 |
|
Lymphedema |
OMIM:619369 |
Preeclampsia/Eclampsia 1 |
|
Elevated hepatic transaminase, Hypertension, Edema |
OMIM:189800 |
Neuraminidase Deficiency |
|
Hepatomegaly, Facial edema, Splenomegaly, Hydrops fetalis, Cardiomyopathy, Ascites |
OMIM:256550 |
Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Edema, Malabsorption, Steatorrhea, Hematochezia, Prote... |
ORPHA:2070 |
Malignant Peritoneal Mesothelioma |
|
Ascites, Peritonitis, Ileus, Pedal edema |
ORPHA:168811 |
Free Sialic Acid Storage Disease |
|
Splenomegaly, Hepatomegaly, Ascites, Hydrops fetalis |
ORPHA:834 |
Cirrhosis, Familial |
|
Jaundice, Micronodular cirrhosis, Esophageal varix, Biliary cirrhosis, Fulminant hepatitis, Hyper... |
OMIM:215600 |
German Syndrome |
|
Camptodactyly of finger, Lymphedema, High palate, Dysphagia, Arthrogryposis multiplex congenita |
ORPHA:2077 |
Milroy Disease |
|
Cellulitis, Predominantly lower limb lymphedema, Pedal edema, Lymphedema |
ORPHA:79452 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Intestinal lymphangiectasia, Generalized edema |
OMIM:207731 |
Desmoplastic Small Round Cell Tumor |
|
Abnormal peritoneum morphology, Neoplasm of the pancreas, Hepatomegaly, Mediastinal lymphadenopat... |
ORPHA:83469 |
Dohle Bodies And Leukemia |
|
Lymphedema |
OMIM:223350 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Omphalocele, Atrial flutter, Lymphedema, Hydrops fetalis, Oligohydramnios |
OMIM:601927 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Gastroesophageal reflux, Lymphedema |
ORPHA:3137 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Edema, Cholestasis, Protein-losing enteropathy, Decreased liver function, Camptodac... |
OMIM:608104 |
Chromomycosis |
|
Predominantly lower limb lymphedema, Edema, Lymphedema, Atypical scarring of skin, Lymphangiectasis |
ORPHA:182 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Neonatal death, Nonimmune hydrops fetalis |
OMIM:619003 |
Greenberg Dysplasia |
|
Lymphedema |
ORPHA:1426 |
Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic stea... |
ORPHA:2137 |
Cirrhotic Cardiomyopathy |
|
Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left ventricular diastolic... |
ORPHA:57777 |
Griscelli Syndrome |
|
Hepatomegaly, Splenomegaly, Pyloric stenosis, Jaundice, Hepatitis, Pedal edema, Lymphadenopathy, ... |
ORPHA:381 |
Infantile Systemic Hyalinosis |
|
Abnormality of the gastrointestinal tract, Telangiectasia of the skin, Camptodactyly of finger, L... |
ORPHA:2176 |
Kaposiform Lymphangiomatosis |
|
Epidural hemorrhage, Pericardial effusion, Splenomegaly, Abnormality of the lymphatic system, Hep... |
ORPHA:464329 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Pericardial lymphangiectasia, Nonimmune hydrops fetalis, Lymphedema, Periorbital edema, Pericardi... |
OMIM:235510 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Reduced subcutaneous adipose tissue, Palpebral edema, Nonimmune hydrops fetalis, Lymphedema, Pulm... |
OMIM:137940 |
Lymphedema-Hypoparathyroidism Syndrome |
|
Pulmonary lymphangiectasia, Lymphedema |
OMIM:247410 |
Tenosynovial Giant Cell Tumor |
|
Joint swelling, Chondrocalcinosis, Lymphedema |
ORPHA:66627 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Lymphangiectasis, Edema, Death in childhood |
OMIM:602579 |
Al-Gazali-Bakalinova Syndrome |
|
Inguinal hernia, Lymphedema |
OMIM:607131 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Bradycardia, Pleural effusion, Ascites, Oligoh... |
OMIM:614702 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Achondrogenesis |
|
Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios |
ORPHA:932 |
Congenital Disorder Of Glycosylation, Type Il |
|
Hepatomegaly, Edema, Pericardial effusion, Hepatosplenomegaly, Ascites |
OMIM:608776 |
Congenital Enterovirus Infection |
|
Decreased fetal movement, Premature birth, Fetal ascites, Polyhydramnios, Pericardial effusion, M... |
ORPHA:292 |
Caroli Disease |
|
Cholangiocarcinoma, Hepatomegaly, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ... |
ORPHA:53035 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Hepatomegaly, Transient ischemic attack, Cardiac arrest, First degree atrioventricular block, Sud... |
OMIM:115197 |
Ring Chromosome 22 Syndrome |
|
Lymphedema, Pleural effusion, Edema, Protruding tongue |
ORPHA:1446 |
Mulibrey Nanism |
|
Hepatomegaly, Ascites, Hydrops fetalis, Congestive heart failure |
OMIM:253250 |
Capillary Malformation-Arteriovenous Malformation |
|
Epistaxis, Nonimmune hydrops fetalis, Lymphedema, High-output congestive heart failure, Congestiv... |
ORPHA:137667 |
Klippel-Trenaunay-Weber Syndrome |
|
Lymphangioma, Lymphedema |
OMIM:149000 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Ascites |
OMIM:615122 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Elevated circulating aspartate aminotransferase concentration, Nonimmune hydrops fetalis, Jaundic... |
OMIM:617049 |
Monosomy 18P |
|
Hypertension, Cleft palate, Lymphedema |
ORPHA:1598 |
Cantu Syndrome |
|
Pericardial effusion, Umbilical hernia, Lymphedema |
OMIM:239850 |
Reynolds Syndrome |
|
Hepatomegaly, Telangiectasia of the skin, Abnormal gastric mucosa morphology, Jaundice, Xerostomi... |
ORPHA:779 |
Achondrogenesis Type 1B |
|
Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios |
ORPHA:93298 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Portal hypertension, Malabsorption, Hypersplenism, Hepatosplenomegal... |
ORPHA:98850 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
Hennekam Syndrome |
|
Camptodactyly of finger, Lymphedema, Pericardial effusion, Pyloric stenosis, Malabsorption, Splen... |
ORPHA:2136 |
Galactosialidosis |
|
Conjunctival telangiectasia, Visceromegaly, Nonimmune hydrops fetalis, Hepatosplenomegaly |
OMIM:256540 |
Niemann-Pick Disease, Type A |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevat... |
OMIM:257200 |
Amyloidosis, Familial Visceral |
|
Hepatomegaly, Edema, Splenomegaly, Cholestasis, Hypertension |
OMIM:105200 |
Achondrogenesis Type 1A |
|
Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios |
ORPHA:93299 |
Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Lymphedema, Abnormality of the lymphatic system, Chylopericardium, L... |
ORPHA:538 |
Familial Exudative Vitreoretinopathy |
|
Macular telangiectasia, Lymphedema, Macular edema, Vitreous hemorrhage, Retinal neovascularization |
ORPHA:891 |
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies |
|
Neonatal death, Polyhydramnios, Fetal akinesia sequence |
OMIM:619602 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Nonimmune hydrops fetalis, Fetal pericardial effusion, Hypertension, Second degree atrioventricul... |
OMIM:617021 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Splenomegaly, Hydrops fetalis |
ORPHA:766 |
Boomerang Dysplasia |
|
Hydrops fetalis, Polyhydramnios |
ORPHA:1263 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chr... |
ORPHA:100085 |
Ovarian Fibroma |
|
Mesenteric cyst, Pleural effusion, Ascites, Peritonitis |
ORPHA:314473 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Alg8-Cdg |
|
Abnormality of the gastrointestinal tract, Elevated hepatic transaminase, Abnormality of subcutan... |
ORPHA:79325 |
Parkes Weber Syndrome |
|
Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarachnoid hemorrhage, V... |
ORPHA:90307 |
Lymphedema-Distichiasis Syndrome |
|
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphedema, Cleft palate, Chyloth... |
OMIM:153400 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Decreased fetal movement, Hydrops fetalis, Polyhydramnios |
OMIM:255320 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death, Hepatosplenomegaly |
OMIM:273680 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Neonatal death, Death in infancy, Premature birth, Nonimmune hydrops fetalis |
OMIM:618835 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Neonatal death, Death in infancy, Premature birth, Nonimmune hydrops fetalis |
OMIM:618839 |
Ovarian Hyperstimulation Syndrome |
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Pulmonary edema, Hypovolemia, Capillary leak, Peripheral edema, Pleural effusion, Ascites, Genera... |
ORPHA:64739 |
Fabry Disease |
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Angina pectoris, Transient ischemic attack, Myocardial infarction, Lymphedema, Congestive heart f... |
OMIM:301500 |
Combined Oxidative Phosphorylation Defect Type 27 |
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Nonimmune hydrops fetalis |
ORPHA:477774 |
Congenital Sialidosis Type 2 |
|
Abnormal EKG, Hepatomegaly, Inguinal hernia, Edema, Protruding tongue, Telangiectasia, Hepatosple... |
ORPHA:93400 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
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Nonimmune hydrops fetalis, Pericardial effusion, Hypoplasia of the thymus, Restrictive cardiomyop... |
OMIM:619313 |
Hemochromatosis, Neonatal |
|
Nonimmune hydrops fetalis, Oligohydramnios |
OMIM:231100 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Lymphedema |
OMIM:152950 |
Gallbladder Neuroendocrine Tumor |
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Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit... |
ORPHA:100086 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
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Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... |
OMIM:251880 |
Gaucher Disease Type 1 |
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Hepatomegaly, Pericardial effusion, Splenomegaly, Hypersplenism, Pedal edema, Cirrhosis, Pulmonar... |
ORPHA:77259 |
Dengue Fever |
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Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Cerebral hemorrhage, Hypotension, Ascites |
ORPHA:99828 |
Tempi Syndrome |
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Intracranial hemorrhage, Transudative pleural effusion, Ascites, Telangiectasia |
ORPHA:284227 |
Bannayan-Riley-Ruvalcaba Syndrome |
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Intestinal polyposis, Angina pectoris, Abnormal large intestine morphology, Lymphedema, Narrow pa... |
ORPHA:109 |
Noonan Syndrome 13 |
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Gastroesophageal reflux, Mitral regurgitation, High palate, Lymphedema |
OMIM:619087 |
Hypocomplementemic Urticarial Vasculitis |
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Hepatomegaly, Pericardial effusion, Splenomegaly, Angioedema, Lymphadenopathy, Small vessel vascu... |
ORPHA:36412 |
Combined Oxidative Phosphorylation Deficiency 5 |
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Hypertrophic cardiomyopathy, Ascites, Edema |
OMIM:611719 |
Acrocephalopolydactylous Dysplasia |
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Hypoplastic colon, Hepatomegaly, Omphalocele, Pancreatic fibrosis, Hypoplasia of the small intest... |
OMIM:200995 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
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Polyhydramnios, Hydrops fetalis, Hypertrophic cardiomyopathy, Single umbilical artery, Pleural ef... |
OMIM:616897 |
Lymphatic Malformation 13 |
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Nonimmune hydrops fetalis, Lymphedema, Mitral regurgitation, Neonatal death, Pulmonary arterial h... |
OMIM:620244 |
Clapo Syndrome |
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Lymphangioma, Lymphedema |
ORPHA:168984 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
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Prolonged QRS complex, Left axis deviation, Pericardial effusion, Breech presentation, Congestive... |
OMIM:261740 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
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Gastrointestinal hemorrhage, Hip contracture, Cerebral hemorrhage, Diffuse alveolar hemorrhage, I... |
ORPHA:464321 |
Familial Mediterranean Fever |
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Acute hepatic failure, Intestinal obstruction, Pericarditis, Myocardial infarction, Malabsorption... |
ORPHA:342 |
Pulmonary Edema Of Mountaineers, Susceptibility To |
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Edema, Pulmonary edema |
OMIM:178400 |
Achondrogenesis, Type Ii |
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Polyhydramnios, Stillbirth, Hydrops fetalis, Edema |
OMIM:200610 |
Senior-Boichis Syndrome |
|
Elevated hepatic transaminase, Portal hypertension, Malformation of the hepatic ductal plate, Con... |
ORPHA:84081 |
Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
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Nonimmune hydrops fetalis, Predominantly lower limb lymphedema, Palmar telangiectasia, Palpebral ... |
OMIM:607823 |
Lymphatic Filariasis |
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Predominantly lower limb lymphedema, Lymphedema, Lymphadenitis, Abnormality of the lymphatic syst... |
ORPHA:2035 |
Immunodeficiency 87 And Autoimmunity |
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Atrophic gastritis, Villous atrophy, Hepatic steatosis, Hepatomegaly, Elevated circulating aspart... |
OMIM:619573 |
Primary Sclerosing Cholangitis |
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Acute hepatic failure, Spider hemangioma, Hepatic fibrosis, Neoplasm of the gallbladder, Adenocar... |
ORPHA:171 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
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Hepatomegaly, Inguinal hernia, Polyhydramnios, Splenomegaly, Pancreatic lymphangiectasis, Pulmona... |
ORPHA:1655 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Edema, Splenomegaly, Flexion contracture, Lymphadenopathy, Generalized lipodystroph... |
OMIM:619183 |
Primary Biliary Cholangitis |
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Orthostatic hypotension, Portal hypertension, Celiac disease, Jaundice, Hepatic failure, Biliary ... |
ORPHA:186 |
Dahlberg-Borer-Newcomer Syndrome |
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Lymphedema |
ORPHA:1563 |
Poems Syndrome |
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Lipodystrophy, Edema, Pericardial effusion, Lymphadenopathy, Pulmonary arterial hypertension, Ple... |
ORPHA:2905 |
Aicardi-Goutieres Syndrome 9 |
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Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Acute pancreatitis, Portal hypertensio... |
OMIM:619487 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
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Hydrops fetalis |
OMIM:616738 |
Carney Triad |
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Gastrointestinal hemorrhage, Tachycardia, Gastrointestinal stroma tumor, Mediastinal lymphadenopa... |
ORPHA:139411 |
Grfoma |
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Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Neoplasm of the pancreas, Neop... |
ORPHA:97261 |
Distal Xq28 Microduplication Syndrome |
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Predominantly lower limb lymphedema, High palate, Epistaxis, Upper eyelid edema |
ORPHA:293939 |
American Trypanosomiasis |
|
Hepatomegaly, Aganglionic megacolon, Edema, Periorbital edema, Myocarditis, Congestive heart fail... |
ORPHA:3386 |
Pediatric Systemic Lupus Erythematosus |
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Abnormality of the gastrointestinal tract, Edema, Raynaud phenomenon, Pericardial effusion, Lymph... |
ORPHA:93552 |
Pseudo-Torch Syndrome 2 |
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Elevated hepatic transaminase, Hepatomegaly, Cerebral hemorrhage, Bradycardia, Pleural effusion, ... |
OMIM:617397 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... |
ORPHA:75565 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
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Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Absence of lymph node germinal ... |
ORPHA:79124 |
Gracile Bone Dysplasia |
|
Asplenia, Hypoplastic spleen, Ascites, Ankyloglossia |
OMIM:602361 |
Autosomal Recessive Polycystic Kidney Disease |
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Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Protein-losing ente... |
ORPHA:731 |
Cerebrofacioarticular Syndrome |
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Anal stenosis, Lymphedema, Anteriorly placed anus, Pulmonic stenosis, Camptodactyly |
ORPHA:314679 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Premature birth, Nonimmune hydrops fetalis |
OMIM:618838 |
Combined Oxidative Phosphorylation Deficiency 57 |
|
Neonatal death, Death in infancy, Nonimmune hydrops fetalis, Fetal pleural effusion |
OMIM:620167 |
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth |
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Lymphedema |
OMIM:613089 |
Classic Galactosemia |
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Elevated hepatic transaminase, Hepatomegaly, Jaundice, Hepatic failure, Ascites |
ORPHA:79239 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
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Neonatal death, Patent ductus arteriosus, Coarctation of aorta |
OMIM:601612 |
Gm1-Gangliosidosis, Type I |
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Hepatomegaly, Splenomegaly, Congestive heart failure, Dilated cardiomyopathy, Hydrops fetalis, Hy... |
OMIM:230500 |
Thymic Carcinoma |
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Palpebral edema, Edema, Neoplasm of the thymus, Mediastinal lymphadenopathy, Abnormal vena cava m... |
ORPHA:99868 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
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Palpebral edema, Edema, Pulmonary embolism, Facial edema, Pedal edema, Hypertension, Anasarca, Pl... |
ORPHA:567546 |
Granulomatous Disease, Chronic, X-Linked |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Rectal abscess, Cellul... |
OMIM:306400 |
Gaucher Disease, Perinatal Lethal |
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Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Splenomegaly, Hepatic failure, Hepatospl... |
OMIM:608013 |
Mitochondrial Trifunctional Protein Deficiency 1 |
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Congestive heart failure, Dilated cardiomyopathy, Hydrops fetalis, Abnormality of the amniotic fl... |
OMIM:609015 |
Phelan-Mcdermid Syndrome |
|
Palpebral edema, Lymphedema, Gastroesophageal reflux, High palate, Cellulitis |
OMIM:606232 |
Necrotizing Enterocolitis |
|
Shock, Edema, Peritonitis, Bradycardia, Hypotension, Ascites |
ORPHA:391673 |
Ppoma |
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Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Neoplasm of the pancreas, Abno... |
ORPHA:97278 |
Perlman Syndrome |
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Distal ileal atresia, Polyhydramnios, Edema, Congenital diaphragmatic hernia, Pancreatic islet-ce... |
OMIM:267000 |
Short-Rib Thoracic Dysplasia 12 |
|
Omphalocele, Hepatomegaly, Inguinal hernia, Intestinal malrotation, Hamartoma of tongue, Edema, P... |
OMIM:269860 |
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
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Pericarditis, Camptodactyly of finger, Mitral regurgitation, Camptodactyly of toe, Ascites |
ORPHA:2848 |
Noonan Syndrome |
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Hepatomegaly, Lymphedema, Abnormality of the spleen, Abnormality of the lymphatic system, High pa... |
ORPHA:648 |
Lysosomal Acid Lipase Deficiency |
|
Elevated hepatic transaminase, Fatal liver failure in infancy, Hypersplenism, Microvesicular hepa... |
ORPHA:275761 |
Tyrosinemia, Type I |
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Gastrointestinal hemorrhage, Hepatomegaly, Acute hepatic failure, Elevated hepatic transaminase, ... |
OMIM:276700 |
Farber Disease |
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Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaundice, Flexion contractu... |
ORPHA:333 |
Ovarian Fibrothecoma |
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Pleural effusion, Ascites, Peritonitis |
ORPHA:314478 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
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Polyhydramnios, Lymphedema, Splenomegaly, Hepatosplenomegaly, Mitral regurgitation, Chylothorax, ... |
OMIM:613563 |
Wilson Disease |
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Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:277900 |
Fabry Disease |
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Conjunctival telangiectasia, Bundle branch block, Angina pectoris, Transient ischemic attack, Tel... |
ORPHA:324 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
Takenouchi-Kosaki Syndrome |
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Inguinal hernia, Camptodactyly, Pulmonic stenosis, Lymphedema |
OMIM:616737 |
Vipoma |
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Neoplasm of the pancreas, Hepatomegaly, Malabsorption, Abnormal abdomen morphology, Intrahepatic ... |
ORPHA:97282 |
Analbuminemia |
|
Lipodystrophy, Oligohydramnios, Hypotension, Edema |
OMIM:616000 |
Adams-Oliver Syndrome |
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Gastrointestinal hemorrhage, Portal hypertension, Congenital hepatic fibrosis, Esophageal varix, ... |
ORPHA:974 |
Wolcott-Rallison Syndrome |
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Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Jaundice, Dehydration, Abnorm... |
ORPHA:1667 |
Osteogenesis Imperfecta, Type Ii |
|
Congestive heart failure, Pulmonary insufficiency, Premature birth, Nonimmune hydrops fetalis |
OMIM:166210 |
Mpi-Cdg |
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Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Edema, Protein-losing enteropathy... |
ORPHA:79319 |
Arthrogryposis Multiplex Congenita 6 |
|
Death in infancy, Decreased fetal movement, Polyhydramnios, Death in childhood, Neonatal death |
OMIM:619334 |
Somatostatinoma |
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Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Neoplasm of the pancreas, Abno... |
ORPHA:97283 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:256810 |
Phakomatosis Pigmentokeratotica |
|
Raynaud phenomenon, Arrhythmia, Lymphedema |
ORPHA:2874 |
Diarrhea 10, Protein-Losing Enteropathy Type |
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Polyhydramnios, Pericardial effusion, Hematochezia, Anasarca, Protein-losing enteropathy, Pleural... |
OMIM:618183 |
Platyspondylic Dysplasia, Torrance Type |
|
Hydrops fetalis, Polyhydramnios |
ORPHA:85166 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Splenomegaly, Hepatomegaly, Nonimmune hydrops fetalis |
OMIM:266200 |
Cardiofaciocutaneous Syndrome |
|
Abnormality of the gastrointestinal tract, Lymphedema, Submucous cleft hard palate, Functional ab... |
ORPHA:1340 |
Trisomy 1Q |
|
Increased nuchal translucency, Patent ductus arteriosus, Hydrops fetalis, Polyhydramnios |
ORPHA:261344 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Lymphedema, Orthostatic hypotension, Dysphagia |
ORPHA:2822 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Polyhydramnios, Congestive heart failure, Microvesicular hepatic s... |
OMIM:617156 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short uvula, Hydrops fetalis, Cleft palate, High palate, Hepatic fibrosis, Ascites |
OMIM:614091 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hematochezia, Protein-losing enteropathy, Edema, Dehydration |
ORPHA:103910 |
White Sponge Nevus 2 |
|
Edema |
OMIM:615785 |
Sea-Blue Histiocytosis |
|
Splenomegaly, Hepatomegaly, Mediastinal lymphadenopathy, Edema |
ORPHA:158029 |
Lymphedema-Distichiasis Syndrome |
|
Arrhythmia, Predominantly lower limb lymphedema, Cleft palate |
ORPHA:33001 |
Trisomy 13 |
|
Patent ductus arteriosus, Hydrops fetalis |
ORPHA:3378 |
Gm1 Gangliosidosis |
|
Premature birth, Splenomegaly, Congestive heart failure, Hydrops fetalis, Hepatosplenomegaly, Car... |
ORPHA:354 |
Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Fetal akinesia sequence, Hydrops fetalis, Hypoplasia of the thymus, Oligohydram... |
OMIM:617022 |
Wells Syndrome |
|
Vasculitis, Edema, Cellulitis |
ORPHA:901 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Small intestinal polyposis, Duodenal polyposis, Edema, Rectal polyposis, Adenomatous colonic poly... |
ORPHA:329971 |
Fraser Syndrome 3 |
|
Sonographic non-visualized fetal bladder, Nonimmune hydrops fetalis, Stillbirth, Ascites, Oligohy... |
OMIM:617667 |
Nk-Cell Enteropathy |
|
Colonic diverticula, Duodenal ulcer, Edema, Abnormal gastric mucosa morphology, Hematochezia, Gas... |
ORPHA:263665 |
Ileal Neuroendocrine Tumor |
|
Elevated hepatic transaminase, Intestinal fistula, Functional intestinal obstruction, Tricuspid s... |
ORPHA:100078 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Splenomegaly, Hepatomegaly, Hydrops fetalis |
OMIM:224120 |
Congenital Myopathy 22B, Severe Fetal |
|
Hepatomegaly, Hip contracture, Limb joint contracture, Nonimmune hydrops fetalis, Polyhydramnios,... |
OMIM:620369 |
Intrahepatic Cholestasis Of Pregnancy |
|
Elevated hepatic transaminase, Abnormality of the pancreas, Jaundice, Cholecystitis, Ascites |
ORPHA:69665 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Lymphedema |
OMIM:300291 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Abnormal left ventricular function, Cholecystitis, Internal hemorrhage, Hepa... |
ORPHA:99827 |
Xfe Progeroid Syndrome |
|
Elevated hepatic transaminase, Absence of subcutaneous fat, Corneal scarring, Hypertension, Ename... |
OMIM:610965 |
Ogden Syndrome |
|
Inguinal hernia, Pulmonary edema, Lymphedema, Microvesicular hepatic steatosis, Jaundice, Ventric... |
OMIM:300855 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Posterolateral diaphragmatic hernia, Inguinal hernia, Morgagni diaphragmatic he... |
OMIM:613177 |
Eisenmenger Syndrome |
|
Ventricular tachycardia, Pedal edema, Abnormality of the liver, Supraventricular tachycardia, Hep... |
ORPHA:97214 |
Achondrogenesis, Type Ia |
|
Polyhydramnios, Increased nuchal translucency, Hydrops fetalis, Stillbirth, Absence of stomach bu... |
OMIM:200600 |
Autosomal Erythropoietic Protoporphyria |
|
Cholelithiasis, Cirrhosis, Decreased liver function, Edema |
ORPHA:79278 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Lymphedema |
ORPHA:79280 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Single umbilical artery, Miscarriage, Hydrops fetalis, Increased placental thickness |
ORPHA:1865 |
Immunodeficiency 22 |
|
Panniculitis, Pericarditis, Ascites, Capillary leak |
OMIM:615758 |
Glucagonoma |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Neoplasm of the pancreas, Abno... |
ORPHA:97280 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Inguinal hernia, Lymphedema, Abnormality of the lymphatic system, Flexion contracture, Camptodactyly |
ORPHA:487796 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Elevated hepatic transaminase, Inguinal hernia, Intestinal malrotation, Portal hypertension, Esop... |
OMIM:613658 |
Schneckenbecken Dysplasia |
|
Stillbirth, Nonimmune hydrops fetalis, Polyhydramnios |
OMIM:269250 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Splenomegaly, Hydrops fetalis, Hepatosplenomegaly, Hypertrophic cardiomyopathy |
OMIM:613673 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Nonimmune hydrops fetalis |
OMIM:618265 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Edema, Lymphedema, Panniculitis, Chylothorax, Cellulitis, Pleural effusion |
ORPHA:2526 |
Fumarase Deficiency |
|
Reduced subcutaneous adipose tissue, Necrotizing enterocolitis, Polyhydramnios, Intrahepatic chol... |
OMIM:606812 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Cardiomyopathy, Hydrops fetalis |
ORPHA:88618 |
Melkersson-Rosenthal Syndrome |
|
Edema, Periorbital edema, Lymphadenopathy, Furrowed tongue, Macroglossia |
ORPHA:2483 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Inguinal hernia, Multiple joint contractures, Lymphedema, Flexion contracture, Elbow flexion cont... |
ORPHA:536471 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Edema, Polyhydramnios, Cardiomegaly... |
ORPHA:363705 |
Nodular Non-Suppurative Panniculitis |
|
Splenomegaly, Hepatomegaly, Panniculitis, Edema |
ORPHA:33577 |
Kasabach-Merritt Syndrome |
|
Abnormal lymphatic vessel morphology |
ORPHA:2330 |
Mosaic Trisomy 9 |
|
Polyhydramnios, Asplenia, Hydrops fetalis, Single umbilical artery, Oligohydramnios |
ORPHA:99776 |
Spondyloocular Syndrome |
|
Duodenal ulcer, Lymphedema |
OMIM:605822 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Prolonged QT interval, Elevated hepatic transaminase, Myocardial infarction, Lymphedema, Celiac d... |
ORPHA:99413 |
Turner Syndrome |
|
Prolonged QT interval, Elevated hepatic transaminase, Myocardial infarction, Lymphedema, Celiac d... |
ORPHA:881 |
Mosaic Monosomy X |
|
Prolonged QT interval, Elevated hepatic transaminase, Myocardial infarction, Lymphedema, Celiac d... |
ORPHA:99228 |
Monosomy X |
|
Prolonged QT interval, Elevated hepatic transaminase, Myocardial infarction, Lymphedema, Celiac d... |
ORPHA:99226 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Stillbirth, Hepatic failure, Ascites |
OMIM:259720 |
Greenberg Dysplasia |
|
Nonimmune hydrops fetalis, Polyhydramnios, Echogenic fetal bowel, Large placenta, Increased nucha... |
OMIM:215140 |
Gm1 Gangliosidosis Type 1 |
|
Abnormal placenta morphology, Hydrops fetalis, Cardiomyopathy, Hepatosplenomegaly |
ORPHA:79255 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Neonatal death, Dehydration |
OMIM:602199 |
Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Pelvic mass, Jaundice, Ascites, Pancreatitis |
ORPHA:370348 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Hepatomegaly, Limb joint contracture, Splenomegaly, Micronodular cirrhosis, Flexion contracture, ... |
OMIM:301072 |
Gaucher Disease Type 3 |
|
Hepatomegaly, Pericardial effusion, Splenomegaly, Hydrops fetalis, Pulmonary arterial hypertension |
ORPHA:77261 |
Mucopolysaccharidosis, Type Vii |
|
Splenomegaly, Hepatomegaly, Hydrops fetalis, Cardiomyopathy |
OMIM:253220 |
Hereditary Elliptocytosis |
|
Splenomegaly, Hydrops fetalis |
ORPHA:288 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Thickened nuchal skin fold, Nonimmune hydrops fetalis, Polyhydramnios, Asplenia, Pulmonary artery... |
OMIM:265380 |
Oculoectodermal Syndrome |
|
Hypertrophic cardiomyopathy, Transient ischemic attack, Lymphedema |
OMIM:600268 |
Fibrochondrogenesis 1 |
|
Stillbirth, Hydrops fetalis |
OMIM:228520 |
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
|
Predominantly lower limb lymphedema |
OMIM:604121 |
Kanzaki Disease |
|
Lacunar stroke, Telangiectasia of the oral mucosa, Lip telangiectasia, Lymphedema |
OMIM:609242 |
Schneckenbecken Dysplasia |
|
Polyhydramnios, Cleft palate, Lymphedema |
ORPHA:3144 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Death in infancy, Nonimmune hydrops fetalis, Edema, Pericardial effusion, Stroke-like episode, Ab... |
OMIM:212065 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato... |
OMIM:203700 |
Mosaic Variegated Aneuploidy Syndrome |
|
Intestinal polyposis, Aortic regurgitation, Polyhydramnios, Increased nuchal translucency, Cleft ... |
ORPHA:1052 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Edema, Polyhydramnios, Gastroesophageal reflux, Hepatic fibrosis, Neonatal death, Intrahepatic bi... |
OMIM:619534 |
Proteus Syndrome |
|
Thymus hyperplasia, Abnormal dental enamel morphology, Sudden cardiac death, Lymphedema, Pulmonar... |
ORPHA:744 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Biliary hyperplasia, Abnormal left ventricular function, Protein-losing entero... |
OMIM:619991 |
Mgat2-Cdg |
|
Arrhythmia, Hydrops fetalis, Reflex asystolic syncope |
ORPHA:79329 |
Atresia Of Urethra |
|
Pulmonary insufficiency, Ascites, Oligohydramnios |
ORPHA:105 |
Monosomy 22Q13.3 |
|
Umbilical hernia, Gastroesophageal reflux, Palpebral edema, Lymphedema |
ORPHA:48652 |
Cardiac Valvular Dysplasia 1 |
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Tricuspid regurgitation, Tricuspid stenosis, Edema, Valvular pulmonary stenosis, Hydrops fetalis,... |
OMIM:212093 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
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Pulmonary embolism, Dilated cardiomyopathy, Subdural hemorrhage, Hydrops fetalis, Dehydration, Pu... |
ORPHA:79282 |
Alg9-Cdg |
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Thickened nuchal skin fold, Decreased fetal movement, Hepatomegaly, Tricuspid regurgitation, Peri... |
ORPHA:79328 |
Cardiomyopathy, Dilated, 1A |
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Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P... |
OMIM:115200 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
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Fetal polyuria, Premature birth, Polyhydramnios, Edema, Hydrops fetalis |
OMIM:602522 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
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Death in infancy, Bilateral fetal pyelectasis, Polyhydramnios, Breech presentation, Patent ductus... |
OMIM:300868 |
Blomstrand Lethal Chondrodysplasia |
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Premature birth, Hydrops fetalis, Polyhydramnios, Coarctation of aorta |
ORPHA:50945 |
Functioning Gonadotropic Adenoma |
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Ascites |
ORPHA:91348 |
Autoimmune Lymphoproliferative Syndrome |
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Hepatomegaly, Chronic noninfectious lymphadenopathy, Hypersplenism, Splenomegaly, Vasculitis, Hyd... |
ORPHA:3261 |
Congenital Tricuspid Valve Dysplasia |
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Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, A... |
ORPHA:555874 |
Noonan Syndrome 1 |
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Lymphedema, High, narrow palate, Cleft palate, High palate, Chylothorax, Pulmonic stenosis, Hyper... |
OMIM:163950 |
Juvenile Polyposis Syndrome |
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Small intestinal polyposis, Juvenile gastrointestinal polyposis, Edema, Hamartomatous polyposis, ... |
ORPHA:2929 |
Niemann-Pick Disease Type C |
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Hepatomegaly, Fetal ascites, Splenomegaly, Hepatic failure, Jaundice, Hydrops fetalis, Hepatosple... |
ORPHA:646 |
Mycophenolate Mofetil Embryopathy |
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Hydrops fetalis, Coarctation of aorta |
ORPHA:268249 |
Pearson Syndrome |
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Hepatomegaly, Cardiac conduction abnormality, Splenomegaly, Hydrops fetalis, Dehydration, Corneal... |
ORPHA:699 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
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Predominantly lower limb lymphedema |
ORPHA:314404 |
Niemann-Pick Disease, Type C1 |
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Hepatomegaly, Fatal liver failure in infancy, Fetal ascites, Splenomegaly, Prolonged neonatal jau... |
OMIM:257220 |
Costello Syndrome |
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Lymphangiectasis, Polyhydramnios |
OMIM:218040 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
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Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... |
ORPHA:300751 |
Johanson-Blizzard Syndrome |
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Colonic diverticula, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration,... |
OMIM:243800 |
Niemann-Pick Disease, Type C2 |
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Hepatomegaly, Fetal ascites, Polyhydramnios, Splenomegaly, Jaundice, Prolonged neonatal jaundice,... |
OMIM:607625 |
Cranioectodermal Dysplasia 2 |
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Hepatomegaly, Polyhydramnios, Splenomegaly, Hydrops fetalis, Hypertension, Polysplenia |
OMIM:613610 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
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Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Intra... |
OMIM:618775 |
Fetal Akinesia Deformation Sequence 1 |
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Decreased fetal movement, Premature birth, Nonimmune hydrops fetalis, Polyhydramnios, Fetal akine... |
OMIM:208150 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
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Hydrops fetalis, Polyhydramnios |
OMIM:616546 |
Pearson Marrow-Pancreas Syndrome |
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Hydrops fetalis, Dehydration, Death in childhood |
OMIM:557000 |
Chronic Graft Versus Host Disease |
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Elevated hepatic transaminase, Fasciitis, Esophageal stricture, Flexion contracture, Xerostomia, ... |
ORPHA:99921 |
Meacham Syndrome |
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Accessory spleen, Death in infancy, Patent ductus arteriosus, Partial anomalous pulmonary venous ... |
OMIM:608978 |
Multiple Pterygium Syndrome, Escobar Variant |
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Decreased fetal movement, Hydrops fetalis |
OMIM:265000 |
Deafness, Unilateral, With Delayed Endolymphatic Hydrops |
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Edema |
OMIM:612097 |
Generalized Arterial Calcification Of Infancy |
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Medial calcification of large arteries, Transient ischemic attack, Coronary artery calcification,... |
ORPHA:51608 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
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Tricuspid regurgitation, Hydrops fetalis |
OMIM:263520 |
Cardiac-Urogenital Syndrome |
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Atrial septal defect, Prolonged bleeding time, Tachycardia, Cor triatrium sinister, Ventricular s... |
OMIM:618280 |
Pmm2-Cdg |
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Elevated hepatic transaminase, Pericarditis, Multiple joint contractures, Angina pectoris, Lipody... |
ORPHA:79318 |
Pulmonary Capillary Hemangiomatosis |
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Pulmonary edema, Right ventricular failure, Pericardial effusion, Diffuse alveolar hemorrhage, Pe... |
ORPHA:199241 |
Gaucher Disease |
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Splenomegaly, Hepatomegaly, Hydrops fetalis, Pulmonary arterial hypertension |
ORPHA:355 |
Hepatoerythropoietic Porphyria |
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Splenomegaly, Abnormality of the amniotic fluid, Nonimmune hydrops fetalis, Edema |
ORPHA:95159 |
Phocomelia, Schinzel Type |
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Hydrops fetalis |
ORPHA:2879 |
Cutis Marmorata Telangiectatica Congenita |
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Ascites, Telangiectasia of the skin |
ORPHA:1556 |
Yunis-Varon Syndrome |
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Polyhydramnios, Increased nuchal translucency, Hydrops fetalis, Renovascular hypertension, Hypert... |
ORPHA:3472 |
Congenital Tracheal Stenosis |
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Polyhydramnios, Abnormal stomach morphology, Fetal ascites, Tracheoesophageal fistula, Oligohydra... |
ORPHA:141127 |
Tetralogy Of Fallot |
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Intrauterine growth retardation, Tetralogy of Fallot |
ORPHA:3303 |
Congenital Erythropoietic Porphyria |
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Splenomegaly, Abnormality of the amniotic fluid, Nonimmune hydrops fetalis, Edema |
ORPHA:79277 |
Diamond-Blackfan Anemia |
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Radial artery aplasia, Nonimmune hydrops fetalis, Coarctation of aorta |
ORPHA:124 |
Yunis-Varon Syndrome |
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Premature birth, Polyhydramnios, Hydrops fetalis, Heart murmur, Cardiomyopathy, Pulmonary arteria... |
OMIM:216340 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
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Hydrops fetalis |
ORPHA:93271 |
Tuberous Sclerosis 1 |
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Pulmonary lymphangiomyomatosis |
OMIM:191100 |
Tuberous Sclerosis 2 |
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Pulmonary lymphangiomyomatosis |
OMIM:613254 |
Congenital Heart Defects, Multiple Types, 7 |
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Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... |
OMIM:618780 |
Tuberous Sclerosis Complex |
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Aortic aneurysm, Pulmonary lymphangiomyomatosis |
ORPHA:805 |
Hemangioma, Capillary Infantile |
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OMIM:602089 |