Lymphangioleiomyomatosis |
|
Pulmonary lymphangiomyomatosis |
OMIM:606690 |
Ascites, Chylous |
|
Chylous ascites |
OMIM:208300 |
Lymphatic Malformation 9 |
|
Predominantly lower limb lymphedema, Tortuous lymphatic vessels |
OMIM:619319 |
Nuchal Bleb, Familial |
|
Hydrops fetalis, Stillbirth, Fetal cystic hygroma |
OMIM:257350 |
Gjc2-Related Late-Onset Primary Lymphedema |
|
Predominantly lower limb lymphedema, Facial edema, Genital edema, Abnormal lymphatic vessel morph... |
ORPHA:568051 |
Hydrops Fetalis, Nonimmune |
|
Hydrops fetalis, Nonimmune hydrops fetalis, Congestive heart failure |
OMIM:236750 |
Yellow Nail Syndrome |
|
Predominantly lower limb lymphedema, Lymphedema, Hypoplasia of lymphatic vessels |
OMIM:153300 |
Lymphatic Malformation 5 |
|
Predominantly lower limb lymphedema, Facial edema, Hypoplasia of lymphatic vessels |
OMIM:153200 |
Fetal Parvovirus Syndrome |
|
Hydrops fetalis, Increased nuchal translucency, Ascites, Hypertrophic cardiomyopathy |
ORPHA:295 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Hepatomegaly, Tricuspid regurgitation, Pulmonic stenosis, Restrictive cardiomyopathy, Pulmonary i... |
OMIM:619433 |
Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Edema |
OMIM:613267 |
Ovarian Hyperstimulation Syndrome |
|
Ascites |
OMIM:608115 |
Chylous Ascites |
|
Abnormal intestine morphology, Lymphedema, Pancreatitis, Ascites |
ORPHA:1160 |
Lipedema |
|
Lipedema, Edema |
OMIM:614103 |
Cholestasis-Lymphedema Syndrome |
|
Malabsorption, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Lymphedema, ... |
OMIM:214900 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Generalized edema, Stillbirth, Peric... |
OMIM:618773 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Multiple lipomas, Abnormality of the lymphatic system, Bil... |
ORPHA:1414 |
Lymphatic Malformation 1 |
|
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Prominent superficial veins, Hype... |
OMIM:153100 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Lymphangiectasia, Pulmonary, Congenital |
|
Facial edema, Chylothorax, Pulmonary lymphangiectasia, Chylous ascites, Palpebral edema, Nonimmun... |
OMIM:265300 |
Lymphatic Malformation 3 |
|
Lymphedema, Cellulitis |
OMIM:613480 |
Long Qt Syndrome 3 |
|
Torsade de pointes, Ventricular flutter, Sudden cardiac death, Hydrops fetalis, Nonimmune hydrops... |
OMIM:603830 |
Follicular Lymphoma |
|
Splenomegaly, Mediastinal lymphadenopathy, Abnormality of the peritoneum, Lymphedema, Pleural eff... |
ORPHA:545 |
Hydrops Fetalis |
|
Nonimmune hydrops fetalis, Arrhythmia, Abnormality of the lymphatic system, Abnormality of the ga... |
ORPHA:1041 |
Idiopathic Neonatal Atrial Flutter |
|
Supraventricular tachycardia, Abnormal left ventricular function, Hydrops fetalis, Arrhythmia, Ab... |
ORPHA:45452 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Polyhydramnios, Hydrops fetalis, Nonimmune hydrops fetalis |
OMIM:613124 |
Congenital Pulmonary Lymphangiectasia |
|
Chylopericardium, Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Pulmonic stenosis, Hydrops... |
ORPHA:2414 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Esophageal neoplasm, Gastroesophageal reflux, Hepatomegaly, Abnormal esophagus physiology, Dyspha... |
ORPHA:2198 |
Lymphatic Malformation 11 |
|
Lymphedema, Pedal edema |
OMIM:619401 |
Lymphatic Malformation 12 |
|
Fetal pericardial effusion, Nonimmune hydrops fetalis, Death in adolescence, Neonatal death, Poly... |
OMIM:620014 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Splenomegaly, Hydrops fetalis, Preeclampsia, Polyhydramnios, Pericarditis, Oligohyd... |
ORPHA:163596 |
Pseudomyxoma Peritonei |
|
Inflammation of the large intestine, Abnormality of the peritoneum, Intestinal obstruction, Herni... |
ORPHA:26790 |
Alpha-Heavy Chain Disease |
|
Malabsorption, Hepatomegaly, Splenomegaly, Abnormality of the small intestine, Ascites, Lymphaden... |
ORPHA:100025 |
Developmental And Epileptic Encephalopathy 96 |
|
Hydrops fetalis, Death in infancy |
OMIM:619340 |
Angioedema, Hereditary, 6 |
|
Angioedema, Facial edema, Edema of the dorsum of hands |
OMIM:619363 |
German Syndrome |
|
Lymphedema, Arthrogryposis multiplex congenita |
OMIM:231080 |
Secondary Intestinal Lymphangiectasia |
|
Malabsorption, Intestinal bleeding, Intussusception, Cirrhosis, Chylous ascites, Right ventricula... |
ORPHA:90363 |
Glycogen Storage Disease Iv |
|
Hepatic failure, Cirrhosis, Hepatosplenomegaly, Hydrops fetalis, Polyhydramnios, Esophageal varix... |
OMIM:232500 |
Meige Disease |
|
Predominantly lower limb lymphedema, Facial edema, Cellulitis, Lymph node hypoplasia, Absence of ... |
ORPHA:90186 |
Lymphedema And Cerebral Arteriovenous Anomaly |
|
Pulmonary arterial hypertension, Lymphedema |
OMIM:152900 |
Choanal Atresia And Lymphedema |
|
High palate, Lymphedema, Pericardial effusion |
OMIM:613611 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome |
|
Lymphedema |
ORPHA:69061 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Pulmonary lymphangiectasia, Camptodactyly, Lymphedema, Pericardial lymphangiectasia, Intestinal l... |
OMIM:616006 |
Dysplastic Cortical Hyperostosis |
|
Polyhydramnios, Hydrops fetalis, Hepatomegaly, Splenomegaly |
ORPHA:2204 |
Indomethacin Embryofetopathy |
|
Oligohydramnios, Hydrops fetalis, Premature birth, Cardiomyopathy |
ORPHA:1909 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Hydrops fetalis, Neonatal death |
OMIM:276822 |
Lymphedema-Cerebral Arteriovenous Anomaly Syndrome |
|
Lymphedema |
ORPHA:86914 |
Splenoportal Vascular Anomalies |
|
Splenomegaly, Cirrhosis, Hepatic fibrosis, Ascites, Anomalous splenoportal venous system |
OMIM:271500 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Facial edema, Polyhydramnios, Lymphedema, Protein-losing enteropathy, Edema |
OMIM:618154 |
Budd-Chiari Syndrome |
|
Malabsorption, Hepatomegaly, Splenomegaly, Acute hepatic failure, Cirrhosis, Peritonitis, Cholecy... |
ORPHA:131 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Predominantly lower limb lymphedema, Palmar telangiectasia, Palpebral edema, Hydrops fetalis, Abn... |
ORPHA:69735 |
Cronkhite-Canada Syndrome |
|
Malabsorption, Hepatomegaly, Stomach cancer, Splenomegaly, Furrowed tongue, Lymphedema, Intestina... |
ORPHA:2930 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, ... |
OMIM:619463 |
Lymphatic Malformation 2 |
|
Lymphedema |
OMIM:611944 |
Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Hydrops fetalis, Polyhydramnios, Ascites, Premature birth |
ORPHA:2123 |
Kaposi Sarcoma |
|
Abnormality of the gastrointestinal tract, Abnormality of the spleen, Generalized lymphadenopathy... |
ORPHA:33276 |
Fetal Gaucher Disease |
|
Splenomegaly, Intracranial hemorrhage, Hydrops fetalis, Abnormality of the spleen, Neonatal death... |
ORPHA:85212 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Hepatomegaly, Splenomegaly, Nonimmune hydrops fetalis, Abnormality of the amniotic fluid, Cardiom... |
OMIM:608540 |
Nephrosialidosis |
|
Ascites, Pericardial effusion |
OMIM:256150 |
Campomelia, Cumming Type |
|
Polysplenia, Lymphedema, Pancreatic cysts, Polycystic liver disease |
OMIM:211890 |
Lymphatic Malformation 4 |
|
Lymphedema, Cellulitis |
OMIM:615907 |
Chilblain Lupus 2 |
|
Vasculitis, Edema |
OMIM:614415 |
Lymphangiectasia, Intestinal |
|
Pedal edema, Stillbirth, Edema, Intestinal lymphangiectasia |
OMIM:152800 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Microvesicular hepatic steatosis, Hepatic failure, Cirrhosis, Cholestasis, Elevated hepatic trans... |
OMIM:617156 |
Chondrodysplasia, Blomstrand Type |
|
Polyhydramnios, Hydrops fetalis, Stillbirth, Premature birth |
OMIM:215045 |
Lymphatic Malformation 6 |
|
Facial edema, Chylothorax, Genital edema, Splenomegaly, Cellulitis, Gastroesophageal reflux, Noni... |
OMIM:616843 |
Lymphatic Malformation 7 |
|
Facial edema, Pulmonary edema, Nonimmune hydrops fetalis, Lymphedema, Edema, Varicose veins, Peri... |
OMIM:617300 |
Achondrogenesis, Type Ib |
|
Hydrops fetalis, Polyhydramnios, Edema, Stillbirth, Breech presentation |
OMIM:600972 |
Hemolytic Anemia, Lethal Congenital Nonspherocytic, With Genital And Other Abnormalities |
|
Hepatosplenomegaly, Ascites |
OMIM:600461 |
Sialidosis Type 2 |
|
Hepatomegaly, Flexion contracture, Splenomegaly, Inguinal hernia, Hydrops fetalis, Pedal edema, U... |
ORPHA:87876 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Jaundice, Elevated hepatic transa... |
OMIM:301045 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Polyhydramnios, Hydrops fetalis, Abnormal aortic morphology, Single umbilical artery |
ORPHA:3405 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Splenomegaly, Hydrops fetalis, Ascites, Premature birth, Congestive heart failure |
OMIM:269920 |
Lissencephaly 2 |
|
Lymphedema |
OMIM:257320 |
Hepatoportal Sclerosis |
|
Abnormal liver parenchyma morphology, Intrahepatic portal vein sclerosis, Abnormality of the hepa... |
ORPHA:64743 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Sclerosing cholangitis, Cholestasis, Duct... |
OMIM:617394 |
Lissencephaly 7 With Cerebellar Hypoplasia |
|
Lymphedema, Neonatal death, Arthrogryposis multiplex congenita |
OMIM:616342 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hydrops fetalis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Fetal akinesia sequence, Br... |
OMIM:618815 |
Hepatic Veno-Occlusive Disease |
|
Elevated hepatic transaminase, Ascites, Hepatomegaly, Jaundice |
ORPHA:890 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Decreased liver function, Hepatomegaly, Flexion contracture, Hepatic failure, Cirrhosis, Hepatosp... |
ORPHA:367 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
High palate, Hepatomegaly, Inguinal hernia, Splenomegaly, Cleft palate, Pulmonary lymphangiectasi... |
OMIM:235255 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Telangiectasia of the skin, Hepatomegaly, Lymphedema, Telangiectasia, Hypertrophic cardiomyopathy |
ORPHA:79279 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Malabsorption, Lymphedema |
ORPHA:1116 |
Melorheostosis |
|
Atypical scarring of skin, Lymphedema |
ORPHA:2485 |
Agenesis Of The Corpus Callosum And Congenital Lymphedema |
|
High palate, Gastroesophageal reflux, Oligohydramnios, Lymphedema, Hypertension, Pulmonary arteri... |
OMIM:613623 |
Alpha-Thalassemia |
|
Hydrops fetalis, Hypersplenism, Splenomegaly |
ORPHA:846 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Polycystic liver disease, Ascites |
OMIM:174050 |
Lymphedema, Primary, With Myelodysplasia |
|
Lymphedema, Cellulitis |
OMIM:614038 |
Transaldolase Deficiency |
|
Telangiectasia, Hepatosplenomegaly, Hydrops fetalis, Edema |
ORPHA:101028 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Splenomegaly, Intracranial hemorrhage, Lymphedema, Lymphadenopathy |
ORPHA:3226 |
Familial Atrial Myxoma |
|
Tricuspid regurgitation, Cholestasis, Heart murmur, Pedal edema, Ascites, Jaundice, Congestive he... |
ORPHA:615 |
Cinca Syndrome |
|
Hepatosplenomegaly, Lymphedema, Lymphadenopathy |
OMIM:607115 |
Primary Intestinal Lymphangiectasia |
|
Abnormal lymphatic vessel morphology, Edema, Intestinal lymphangiectasia, Generalized edema, Pleu... |
ORPHA:90362 |
Al-Gazali-Bakalinova Syndrome |
|
Lymphedema, Inguinal hernia |
OMIM:607131 |
Wolman Disease |
|
Hepatomegaly, Steatorrhea, Splenomegaly, Hepatic failure, Esophageal varix, Ascites |
ORPHA:75233 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Elevated hepatic transaminase, Ascites, Jaundice, Lymphadenopathy |
ORPHA:858 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Polyhydramnios, Oligohydramnios, Ascites, Splenomegaly |
ORPHA:1046 |
Klippel-Trénaunay Syndrome |
|
Hepatomegaly, Hydrops fetalis, Pulmonary embolism, Edema, Internal hemorrhage, Gastrointestinal h... |
ORPHA:90308 |
Maternal Uniparental Disomy Of Chromosome X |
|
Predominantly lower limb lymphedema, Flexion contracture, Hepatic failure, Camptodactyly of finge... |
ORPHA:261519 |
Yellow Nail Syndrome |
|
Pulmonary arterial hypertension, Lymphedema, Biliary tract neoplasm, Hypoplasia of lymphatic vessels |
ORPHA:662 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Arrhythmia, Elevated hepatic tra... |
OMIM:235200 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Malabsorption, Budd-Chiari syndrome, Hepatomegaly, Pulmonary embolism, Intestinal obstruction, Ed... |
OMIM:226300 |
Cardiomyopathy, Familial Hypertrophic 27 |
|
Tricuspid regurgitation, Concentric hypertrophic cardiomyopathy, Mitral regurgitation, Left ventr... |
OMIM:618052 |
Mucopolysaccharidosis Type 7 |
|
Inguinal hernia, Splenomegaly, Hydrops fetalis, Hepatitis, Lymphedema, Umbilical hernia, Ascites |
ORPHA:584 |
Hypervitaminosis A, Susceptibility To |
|
Ascites, Abnormality of the liver |
OMIM:240150 |
Cirrhosis, Familial |
|
Micronodular cirrhosis, Cirrhosis, Fulminant hepatitis, Esophageal varix, Hypertension, Pulmonary... |
OMIM:215600 |
Campomelia, Cumming Type |
|
Hepatomegaly, Cleft palate, Hydrops fetalis, Abnormality of the pancreas, Lymphedema, Abnormal in... |
ORPHA:1318 |
Neuraminidase Deficiency |
|
Facial edema, Hepatomegaly, Splenomegaly, Hydrops fetalis, Ascites, Cardiomyopathy |
OMIM:256550 |
Malignant Peritoneal Mesothelioma |
|
Ileus, Peritonitis, Pedal edema, Ascites |
ORPHA:168811 |
Eosinophilic Gastroenteritis |
|
Malabsorption, Steatorrhea, Abnormality of the gastrointestinal tract, Hematochezia, Protein-losi... |
ORPHA:2070 |
Free Sialic Acid Storage Disease |
|
Hydrops fetalis, Hepatomegaly, Ascites, Splenomegaly |
ORPHA:834 |
Lymphatic Malformation 10 |
|
Lymphedema |
OMIM:619369 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Ileus, Hepatomegaly, Mediastinal lymphadenopathy, Abnormality of the pe... |
ORPHA:83469 |
German Syndrome |
|
High palate, Camptodactyly of finger, Lymphedema, Arthrogryposis multiplex congenita, Dysphagia |
ORPHA:2077 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Decreased liver function, Hepatomegaly, Neonatal death, Cholestasis, Camptodactyly, Protein-losin... |
OMIM:608104 |
Milroy Disease |
|
Predominantly lower limb lymphedema, Lymphedema, Pedal edema, Cellulitis |
ORPHA:79452 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Lymphedema, Gastroesophageal reflux |
ORPHA:3137 |
Combined Oxidative Phosphorylation Deficiency 5 |
|
Ascites, Abnormality of the amniotic fluid, Edema, Hypertrophic cardiomyopathy |
OMIM:611719 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Generalized edema, Intestinal lymphangiectasia |
OMIM:207731 |
Autoimmune Hepatitis |
|
Viral hepatitis, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Sclerosing cholangitis, Spide... |
ORPHA:2137 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Nonimmune hydrops fetalis, Neonatal death |
OMIM:619003 |
Chromomycosis |
|
Predominantly lower limb lymphedema, Lymphedema, Edema, Lymphangiectasis, Atypical scarring of skin |
ORPHA:182 |
Cirrhotic Cardiomyopathy |
|
Pulmonary edema, Hepatomegaly, Jaundice, Third heart sound, Left ventricular diastolic dysfunctio... |
ORPHA:57777 |
Greenberg Dysplasia |
|
Lymphedema |
ORPHA:1426 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Hydrops fetalis, Lymphedema, Omphalocele, Atrial flutter, Oligohydramnios |
OMIM:601927 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatocellular necrosis, Hepatomegaly, Micronodular cirrhosis, Periportal fibrosis, Splenomegaly,... |
OMIM:251880 |
Griscelli Syndrome |
|
Hepatomegaly, Splenomegaly, Pyloric stenosis, Hepatitis, Pedal edema, Lymphadenopathy, Jaundice, ... |
ORPHA:381 |
Kaposiform Lymphangiomatosis |
|
Lymphangioma, Splenomegaly, Hepatosplenomegaly, Abnormal spleen morphology, Epidural hemorrhage, ... |
ORPHA:464329 |
Dohle Bodies And Leukemia |
|
Lymphedema |
OMIM:223350 |
Tenosynovial Giant Cell Tumor |
|
Joint swelling, Lymphedema, Chondrocalcinosis |
ORPHA:66627 |
Infantile Systemic Hyalinosis |
|
Telangiectasia of the skin, Malabsorption, Steatorrhea, Camptodactyly of finger, Abnormality of t... |
ORPHA:2176 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Lymphangiectasis, Death in childhood, Edema |
OMIM:602579 |
Achondrogenesis |
|
Thickened nuchal skin fold, Polyhydramnios, Hydrops fetalis |
ORPHA:932 |
Caroli Disease |
|
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Elevated ... |
ORPHA:53035 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Lymphedema-Distichiasis Syndrome |
|
Predominantly lower limb lymphedema, Cleft palate, Cellulitis, Arrhythmia, Lymphedema |
OMIM:153400 |
Lymphedema-Hypoparathyroidism Syndrome |
|
Pulmonary lymphangiectasia, Lymphedema |
OMIM:247410 |
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies |
|
Polyhydramnios, Fetal akinesia sequence, Neonatal death |
OMIM:619602 |
Achondrogenesis, Type Ii |
|
Polyhydramnios, Hydrops fetalis, Stillbirth, Edema |
OMIM:200610 |
Congenital Enterovirus Infection |
|
Hydrops fetalis, Premature birth, Myocarditis, Hypotension, Polyhydramnios, Cardiomyopathy, Pleur... |
ORPHA:292 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Reduced subcutaneous adipose tissue, Facial telangiectasia in butterfly midface distribution, Pul... |
OMIM:137940 |
Congenital Disorder Of Glycosylation, Type Il |
|
Hepatomegaly, Hepatosplenomegaly, Edema, Ascites, Pericardial effusion |
OMIM:608776 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Ascites, Lymphadenopathy |
OMIM:615122 |
Buschke-Ollendorff Syndrome |
|
Flexion contracture, Connective tissue nevi, Lymphedema, Atypical scarring of skin, Hypertension |
ORPHA:1306 |
Achondrogenesis Type 1B |
|
Thickened nuchal skin fold, Polyhydramnios, Hydrops fetalis |
ORPHA:93298 |
Mulibrey Nanism |
|
Hydrops fetalis, Hepatomegaly, Ascites, Congestive heart failure |
OMIM:253250 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Narrow palate, Joint contracture of the hand, Thyroid lymphangiectasia, Pleural lymphangiectasia,... |
OMIM:235510 |
Klippel-Trenaunay-Weber Syndrome |
|
Lymphedema, Lymphangioma |
OMIM:149000 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Neoplasm of the liver, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chronic non... |
ORPHA:100085 |
Ring Chromosome 22 Syndrome |
|
Pleural effusion, Lymphedema, Protruding tongue, Edema |
ORPHA:1446 |
Capillary Malformation-Arteriovenous Malformation |
|
High-output congestive heart failure, Chylothorax, Nonimmune hydrops fetalis, Abnormality of the ... |
ORPHA:137667 |
Achondrogenesis Type 1A |
|
Thickened nuchal skin fold, Polyhydramnios, Hydrops fetalis |
ORPHA:93299 |
Monosomy 18P |
|
Hypertension, Lymphedema, Cleft palate |
ORPHA:1598 |
Reynolds Syndrome |
|
Telangiectasia of the skin, Abnormal gastric mucosa morphology, Hepatomegaly, Mucosal telangiecta... |
ORPHA:779 |
Aggressive Systemic Mastocytosis |
|
Decreased liver function, Malabsorption, Hepatosplenomegaly, Hypotension, Portal hypertension, Ga... |
ORPHA:98850 |
Galactosialidosis |
|
Hepatosplenomegaly, Conjunctival telangiectasia, Nonimmune hydrops fetalis, Visceromegaly |
OMIM:256540 |
Boomerang Dysplasia |
|
Polyhydramnios, Hydrops fetalis |
ORPHA:1263 |
Niemann-Pick Disease, Type A |
|
Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Elevat... |
OMIM:257200 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
Cantu Syndrome |
|
Lymphedema, Pericardial effusion, Umbilical hernia |
OMIM:239850 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Hydrops fetalis, Splenomegaly |
ORPHA:766 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Hepatic failure, Cirrhosis, Nonimmune hydrops fetalis, Elevated circulating aspartate aminotransf... |
OMIM:617049 |
Amyloidosis, Familial Visceral |
|
Hepatomegaly, Splenomegaly, Cholestasis, Edema, Hypertension |
OMIM:105200 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Left bundle branch block, Pulmonary edema, Hepatomegaly, Congestive heart failure, Hypertrophic c... |
OMIM:115197 |
Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Predominantly lower limb lymphedema, Palpebral edema, Nonimmune hydrops fetalis, Palmar telangiec... |
OMIM:607823 |
Ovarian Fibroma |
|
Mesenteric cyst, Ascites, Peritonitis, Pleural effusion |
ORPHA:314473 |
Familial Exudative Vitreoretinopathy |
|
Vitreous hemorrhage, Macular telangiectasia, Macular edema, Retinal neovascularization, Lymphedema |
ORPHA:891 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Hepatosplenomegaly, Neonatal death |
OMIM:273680 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Lymphangioleiomyomatosis |
|
Chylopericardium, Chylothorax, Abnormality of the lymphatic system, Shagreen patch, Lymphedema, G... |
ORPHA:538 |
Parkes Weber Syndrome |
|
Arteriovenous malformation, Peripheral arteriovenous fistula, Spinal arteriovenous malformation, ... |
ORPHA:90307 |
Fabry Disease |
|
Angina pectoris, Arrhythmia, Myocardial infarction, Lymphedema, Hypertension, Transient ischemic ... |
OMIM:301500 |
Gallbladder Neuroendocrine Tumor |
|
Extrahepatic cholestasis, Chronic noninfectious lymphadenopathy, Cholecystitis, Biliary tract obs... |
ORPHA:100086 |
Alg8-Cdg |
|
Macroglossia, Hydrops fetalis, Abnormality of the gastrointestinal tract, Camptodactyly, Elevated... |
ORPHA:79325 |
Hennekam Syndrome |
|
Malabsorption, Lymphangioma, Chylothorax, Splenomegaly, Pulmonary lymphangiectasia, Camptodactyly... |
ORPHA:2136 |
Congenital Sialidosis Type 2 |
|
Hepatomegaly, Inguinal hernia, Hepatosplenomegaly, Abnormal EKG, Protruding tongue, Edema, Umbili... |
ORPHA:93400 |
Combined Oxidative Phosphorylation Defect Type 27 |
|
Nonimmune hydrops fetalis |
ORPHA:477774 |
Ovarian Hyperstimulation Syndrome |
|
Pulmonary edema, Hypovolemia, Peripheral edema, Pleural effusion, Generalized edema, Ascites, Cap... |
ORPHA:64739 |
Hemochromatosis, Neonatal |
|
Oligohydramnios, Nonimmune hydrops fetalis |
OMIM:231100 |
Minicore Myopathy With External Ophthalmoplegia |
|
Polyhydramnios, Hydrops fetalis, Decreased fetal movement |
OMIM:255320 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Premature birth, Nonimmune hydrops fetalis, Neonatal death, Death in infancy |
OMIM:618835 |
Dengue Fever |
|
Hepatomegaly, Cerebral hemorrhage, Hypotension, Gastrointestinal hemorrhage, Ascites, Epistaxis |
ORPHA:99828 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Premature birth, Nonimmune hydrops fetalis, Neonatal death, Death in infancy |
OMIM:618839 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Premature birth, Neonatal death |
OMIM:301021 |
Tempi Syndrome |
|
Telangiectasia, Intracranial hemorrhage, Transudative pleural effusion, Ascites |
ORPHA:284227 |
Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Hypoplasia of the small intestine, Hepatic ... |
OMIM:200995 |
Hypocomplementemic Urticarial Vasculitis |
|
Hepatomegaly, Splenomegaly, Angioedema, Pleural effusion, Ascites, Pericardial effusion, Small ve... |
ORPHA:36412 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation |
|
Lymphedema |
OMIM:152950 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Angina pectoris, Lipoma, Narrow palate, Intracranial hemorrhage, Hamartomatous polyposis, Lymphed... |
ORPHA:109 |
Clapo Syndrome |
|
Lymphedema, Lymphangioma |
ORPHA:168984 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Pulmonary edema, Hypotension, Shortened PR interval, Ascites, Cardiomyopathy, Congestive heart fa... |
OMIM:261740 |
Primary Sclerosing Cholangitis |
|
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Pancreatitis, Cholestasis, Chronic hepatic fail... |
ORPHA:171 |
Noonan Syndrome 13 |
|
High palate, Mitral regurgitation, Lymphedema, Gastroesophageal reflux |
OMIM:619087 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract obstruction, Pulmonary arterial hypertension... |
ORPHA:77259 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Melena, Hip contracture, Vitreous hemorrhage, Cerebral hemorrhage, Hematemesis, Hypertrophic card... |
ORPHA:464321 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Hydrops fetalis, Polyhydramnios, Pleural effusion, Ascites, Single u... |
OMIM:616897 |
Familial Mediterranean Fever |
|
Malabsorption, Pancreatitis, Splenomegaly, Acute hepatic failure, Peritonitis, Arrhythmia, Vascul... |
ORPHA:342 |
Senior-Boichis Syndrome |
|
Cirrhosis, Hepatosplenomegaly, Reduced number of intrahepatic bile ducts, Malformation of the hep... |
ORPHA:84081 |
Galactosemia |
|
Hepatomegaly, Hepatic failure, Cirrhosis, Elevated hepatic transaminase, Ascites, Jaundice |
ORPHA:352 |
Primary Biliary Cholangitis |
|
Hepatic failure, Orthostatic hypotension, Cirrhosis, Hepatocellular carcinoma, Biliary cirrhosis,... |
ORPHA:186 |
Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Pulmonary edema, Edema |
OMIM:178400 |
Grfoma |
|
Cholelithiasis, Abnormal abdomen morphology, Neoplasm of the pancreas, Hepatomegaly, Extrahepatic... |
ORPHA:97261 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Restrictive cardiomyopathy, Hypoplasia of the thymus, Nonimmune hydrops fetalis, Hypoplastic sple... |
OMIM:619313 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Flexion contracture, Splenomegaly, Generalized lipodystrophy, Edema, Lymphadenopath... |
OMIM:619183 |
Lymphatic Filariasis |
|
Predominantly lower limb lymphedema, Lymphadenitis, Abnormality of the lymphatic system, Lymphede... |
ORPHA:2035 |
Poems Syndrome |
|
Pulmonary arterial hypertension, Lipodystrophy, Visceromegaly, Pleural effusion, Edema, Ascites, ... |
ORPHA:2905 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Hepatosplenomegaly, Acute pancreatitis, Elevated hepatic transaminase, Hepatic fibr... |
OMIM:619487 |
Immunodeficiency 87 And Autoimmunity |
|
Hepatomegaly, Cleft palate, Hepatic failure, Cervical lymphadenopathy, Elevated circulating aspar... |
OMIM:619573 |
Gm1-Gangliosidosis, Type I |
|
Hepatomegaly, Splenomegaly, Hydrops fetalis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy,... |
OMIM:230500 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
High palate, Hepatomegaly, Inguinal hernia, Splenomegaly, Hepatic failure, Pulmonary lymphangiect... |
ORPHA:1655 |
Perlman Syndrome |
|
Congenital diaphragmatic hernia, Distal ileal atresia, Polyhydramnios, Visceromegaly, Pancreatic ... |
OMIM:267000 |
Cardiac Valvular Dysplasia 1 |
|
Mitral stenosis, Hydrops fetalis, Tricuspid regurgitation, Edema |
OMIM:212093 |
Carney Triad |
|
Gastrointestinal stroma tumor, Tachycardia, Arrhythmia, Mediastinal lymphadenopathy, Gastrointest... |
ORPHA:139411 |
Dahlberg-Borer-Newcomer Syndrome |
|
Lymphedema |
ORPHA:1563 |
American Trypanosomiasis |
|
Hepatomegaly, Aganglionic megacolon, Splenomegaly, Arrhythmia, Myocarditis, Edema, Periorbital ed... |
ORPHA:3386 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Recurrent gastroenteritis, Hepatomegaly, Pulmonary hemorrhage, Hepatosplenomegaly, Absence of lym... |
ORPHA:79124 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hydrops fetalis |
OMIM:616738 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hydrops fetalis, Arrhythmia, Prenatal maternal abnormality, Dilated cardiomyopathy, Abnormality o... |
OMIM:609015 |
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth |
|
Lymphedema |
OMIM:613089 |
Gracile Bone Dysplasia |
|
Ankyloglossia, Ascites, Hypoplastic spleen, Asplenia |
OMIM:602361 |
Tropical Endomyocardial Fibrosis |
|
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Decreased QRS voltage, Pedal ... |
ORPHA:75565 |
Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Hypoplasia of the thymus, Hydrops fetalis, Oligohydramnios, Fetal akinesia sequ... |
OMIM:617022 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangiocarcinoma, Hepatoblastoma, Cholestasis, Esophageal varix, Fat malabsorption, Gastrointes... |
ORPHA:731 |
Pediatric Systemic Lupus Erythematosus |
|
Raynaud phenomenon, Abnormality of the gastrointestinal tract, Pleural effusion, Edema, Ascites, ... |
ORPHA:93552 |
Ppoma |
|
Cholelithiasis, Abnormal abdomen morphology, Neoplasm of the pancreas, Hepatomegaly, Extrahepatic... |
ORPHA:97278 |
Pseudo-Torch Syndrome 2 |
|
Hepatomegaly, Cerebral hemorrhage, Elevated hepatic transaminase, Pleural effusion, Ascites, Brad... |
OMIM:617397 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Nonimmune hydrops fetalis, Premature birth |
OMIM:618838 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Splenomegaly, Hepatic failure, Hepatosplenomegaly, Nonimmune hydrops fetalis, Neona... |
OMIM:608013 |
Cerebrofacioarticular Syndrome |
|
Pulmonic stenosis, Camptodactyly, Lymphedema, Anal stenosis, Anteriorly placed anus |
ORPHA:314679 |
Thymic Carcinoma |
|
Palpebral edema, Mediastinal lymphadenopathy, Neoplasm of the thymus, Abnormal vena cava morpholo... |
ORPHA:99868 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Patent ductus arteriosus, Neonatal death, Coarctation of aorta |
OMIM:601612 |
Granulomatous Disease, Chronic, X-Linked |
|
Hepatomegaly, Cellulitis, Splenomegaly, Lymphadenitis, Rectal abscess, Pleural effusion, Ascites,... |
OMIM:306400 |
Classic Galactosemia |
|
Hepatomegaly, Hepatic failure, Elevated hepatic transaminase, Ascites, Jaundice |
ORPHA:79239 |
Distal Xq28 Microduplication Syndrome |
|
Upper eyelid edema, Predominantly lower limb lymphedema, Epistaxis, High palate |
ORPHA:293939 |
Hepatocellular Carcinoma |
|
Abnormality of the hepatic vasculature, Budd-Chiari syndrome, Hepatomegaly, Hemobilia, Hypotensio... |
ORPHA:88673 |
Necrotizing Enterocolitis |
|
Peritonitis, Hypotension, Shock, Edema, Ascites, Bradycardia |
ORPHA:391673 |
Thymic Tumor |
|
Palpebral edema, Neoplasm of the thymus, Mediastinal lymphadenopathy, Edema, Dysphagia, Pericardi... |
ORPHA:100100 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Facial edema, Palpebral edema, Pulmonary embolism, Pedal edema, Anasarca, Edema, Pleural effusion... |
ORPHA:567546 |
Phelan-Mcdermid Syndrome |
|
High palate, Gastroesophageal reflux, Cellulitis, Palpebral edema, Lymphedema |
OMIM:606232 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hematochezia, Polyhydramnios, Protein-losing enteropathy, Anasarca, Pleural effusion, Ascites, Pe... |
OMIM:618183 |
Somatostatinoma |
|
Neoplasm of the pancreas, Abnormal abdomen morphology, Gallbladder dysfunction, Hepatomegaly, Ext... |
ORPHA:97283 |
Osteogenesis Imperfecta, Type Ii |
|
Pulmonary insufficiency, Nonimmune hydrops fetalis, Premature birth, Congestive heart failure |
OMIM:166210 |
Lysosomal Acid Lipase Deficiency |
|
Decreased liver function, Microvesicular hepatic steatosis, Steatorrhea, Hepatic failure, Hypovol... |
ORPHA:275761 |
Ovarian Fibrothecoma |
|
Peritonitis, Ascites, Pleural effusion |
ORPHA:314478 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
Adams-Oliver Syndrome |
|
Cirrhosis, Congenital hepatic fibrosis, Pulmonary arterial hypertension, Esophageal varix, Portal... |
ORPHA:974 |
Wilson Disease |
|
Hepatomegaly, Splenomegaly, Hepatic failure, Chondrocalcinosis, Cirrhosis, Hepatocellular carcino... |
OMIM:277900 |
Noonan Syndrome |
|
High palate, Hepatomegaly, Abnormality of the spleen, Abnormality of the lymphatic system, Arrhyt... |
ORPHA:648 |
Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Periportal fibrosis, Inguinal hernia, Splenomegaly, Intestinal malrotation, Neonata... |
OMIM:269860 |
Analbuminemia |
|
Hypotension, Lipodystrophy, Oligohydramnios, Edema |
OMIM:616000 |
Farber Disease |
|
Joint swelling, Flexion contracture, Hepatic failure, Hepatosplenomegaly, Hydrops fetalis, Elevat... |
ORPHA:333 |
Vipoma |
|
Neoplasm of the pancreas, Abnormal abdomen morphology, Malabsorption, Neoplasm of the liver, Hepa... |
ORPHA:97282 |
Angioosteohypertrophic Syndrome |
|
Telangiectasia of the skin, Cellulitis, Pulmonary embolism, Multiple lipomas, Lymphedema, Gastroi... |
ORPHA:2346 |
Arthrogryposis Multiplex Congenita 6 |
|
Death in childhood, Neonatal death, Polyhydramnios, Death in infancy, Decreased fetal movement |
OMIM:619334 |
Mpi-Cdg |
|
Decreased liver function, Hepatomegaly, Protein-losing enteropathy, Hepatic fibrosis, Portal hype... |
ORPHA:79319 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Nonimmune hydrops fetalis, Hepatomegaly, Splenomegaly |
OMIM:266200 |
Platyspondylic Dysplasia, Torrance Type |
|
Polyhydramnios, Hydrops fetalis |
ORPHA:85166 |
Tyrosinemia, Type I |
|
Melena, Paralytic ileus, Hepatomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Hepatic failure... |
OMIM:276700 |
Wolcott-Rallison Syndrome |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Acute hepatic failure, Dehydration, Elevated hep... |
ORPHA:1667 |
Takenouchi-Kosaki Syndrome |
|
Pulmonic stenosis, Lymphedema, Inguinal hernia, Camptodactyly |
OMIM:616737 |
Fabry Disease |
|
Angina pectoris, Telangiectasia of the skin, Bundle branch block, Malabsorption, Mucosal telangie... |
ORPHA:324 |
Trisomy 1Q |
|
Polyhydramnios, Hydrops fetalis, Patent ductus arteriosus, Increased nuchal translucency |
ORPHA:261344 |
Thoracic Outlet Syndrome |
|
Varicose veins, Edema |
ORPHA:97330 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
High palate, Cleft palate, Short uvula, Hydrops fetalis, Hepatic fibrosis, Ascites |
OMIM:614091 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Dysphagia, Orthostatic hypotension, Lymphedema |
ORPHA:2822 |
Trisomy 13 |
|
Hydrops fetalis, Patent ductus arteriosus |
ORPHA:3378 |
Intrahepatic Cholestasis Of Pregnancy |
|
Abnormality of the pancreas, Cholecystitis, Elevated hepatic transaminase, Ascites, Jaundice |
ORPHA:69665 |
Gm1 Gangliosidosis |
|
Splenomegaly, Hepatosplenomegaly, Hydrops fetalis, Premature birth, Cardiomyopathy, Congestive he... |
ORPHA:354 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Dehydration, Protein-losing enteropathy, Edema, Hematochezia |
ORPHA:103910 |
Cardiofaciocutaneous Syndrome |
|
High palate, Hypertrophic cardiomyopathy, Pulmonic stenosis, Abnormality of the gastrointestinal ... |
ORPHA:1340 |
Ileal Neuroendocrine Tumor |
|
Extrahepatic cholestasis, Hepatic failure, Tricuspid stenosis, Pulmonic stenosis, Right ventricul... |
ORPHA:100078 |
Jejunal Neuroendocrine Tumor |
|
Extrahepatic cholestasis, Hepatic failure, Tricuspid stenosis, Pulmonic stenosis, Right ventricul... |
ORPHA:100077 |
White Sponge Nevus 2 |
|
Edema |
OMIM:615785 |
Lymphedema-Distichiasis Syndrome |
|
Predominantly lower limb lymphedema, Arrhythmia, Cleft palate |
ORPHA:33001 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Lymphedema |
OMIM:300291 |
Sea-Blue Histiocytosis |
|
Mediastinal lymphadenopathy, Hepatomegaly, Edema, Splenomegaly |
ORPHA:158029 |
Glucagonoma |
|
Neoplasm of the pancreas, Abnormal abdomen morphology, Hepatomegaly, Extrahepatic cholestasis, St... |
ORPHA:97280 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hydrops fetalis, Hepatomegaly, Splenomegaly |
OMIM:224120 |
Achondrogenesis, Type Ia |
|
Hydrops fetalis, Absence of stomach bubble on fetal sonography, Polyhydramnios, Stillbirth, Incre... |
OMIM:200600 |
Crimean-Congo Hemorrhagic Fever |
|
Melena, Hepatomegaly, Hemoperitoneum, Subdural hemorrhage, Hepatic failure, Hemothorax, Myocardit... |
ORPHA:99827 |
Nk-Cell Enteropathy |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Intestinal polyp, Duodenal ulcer, St... |
ORPHA:263665 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Aortic valve stenosis, Chylothorax, Mitral regurgitation, Polyhydramnios, Lymphedema |
OMIM:613563 |
Autosomal Erythropoietic Protoporphyria |
|
Cholelithiasis, Decreased liver function, Cirrhosis, Edema |
ORPHA:79278 |
Eisenmenger Syndrome |
|
Angina pectoris, Supraventricular arrhythmia, Hepatomegaly, Heart murmur, Pedal edema, Right bund... |
ORPHA:97214 |
Xfe Progeroid Syndrome |
|
Corneal scarring, Enamel hypoplasia, Absence of subcutaneous fat, Elevated hepatic transaminase, ... |
OMIM:610965 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Abnormal intestine morphology, Shock, Edema |
OMIM:600351 |
Ogden Syndrome |
|
High palate, Torsade de pointes, Premature atrial contractions, Supraventricular tachycardia, Pul... |
OMIM:300855 |
Schneckenbecken Dysplasia |
|
Polyhydramnios, Nonimmune hydrops fetalis, Stillbirth |
OMIM:269250 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the skin, Lip telangiectasia, Lymphedema, Telangiectasia of the oral mucosa |
ORPHA:79280 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Adenomatous colonic polyposis, Small intestinal polyposis, Multiple gastric polyps, Duodenal poly... |
ORPHA:329971 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Increased placental thickness, Miscarriage, Single umbilical artery, Hydrops fetalis |
ORPHA:1865 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hydrops fetalis, Hypertrophic cardiomyopathy |
OMIM:613673 |
Mucopolysaccharidosis, Type Vii |
|
Hydrops fetalis, Hepatomegaly, Cardiomyopathy, Splenomegaly |
OMIM:253220 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Flexion contracture, Inguinal hernia, Abnormality of the lymphatic system, Camptodactyly, Lymphedema |
ORPHA:487796 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hydrops fetalis, Cardiomyopathy |
ORPHA:88618 |
Mosaic Trisomy 9 |
|
Hydrops fetalis, Polyhydramnios, Oligohydramnios, Single umbilical artery, Asplenia |
ORPHA:99776 |
Duodenal Neuroendocrine Tumor |
|
Melena, Hepatic failure, Tricuspid stenosis, Intestinal carcinoid, Extrahepatic cholestasis, Righ... |
ORPHA:100076 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
High palate, Decreased liver function, Gastroesophageal reflux, Inguinal hernia, Intestinal malro... |
OMIM:613658 |
Aarskog Syndrome, Autosomal Dominant |
|
Anal atresia, Hepatomegaly, Cleft palate, Flexion contracture, Cirrhosis, Rectoperineal fistula, ... |
OMIM:100050 |
Nodular Non-Suppurative Panniculitis |
|
Panniculitis, Hepatomegaly, Edema, Splenomegaly |
ORPHA:33577 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hydrops fetalis, Polyhydramnios, Edema, Fetal polyuria, Premature birth |
OMIM:602522 |
Fraser Syndrome 3 |
|
Hydrops fetalis |
OMIM:617667 |
Greenberg Dysplasia |
|
Echogenic fetal bowel, Hepatosplenomegaly, Hydrops fetalis, Nonimmune hydrops fetalis, Neonatal d... |
OMIM:215140 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Splenomegaly, Hepatic failure, Hepatosplenomegaly, Ascites, Stillbirth |
OMIM:259720 |
Oculoectodermal Syndrome |
|
Transient ischemic attack, Lymphedema, Hypertrophic cardiomyopathy |
OMIM:600268 |
Hereditary Elliptocytosis |
|
Hydrops fetalis, Splenomegaly |
ORPHA:288 |
Melkersson-Rosenthal Syndrome |
|
Macroglossia, Furrowed tongue, Periorbital edema, Edema, Lymphadenopathy |
ORPHA:2483 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Hepatomegaly, Micronodular cirrhosis, Flexion contracture, Splenomegaly, Hepatic failure, Limb jo... |
OMIM:301072 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Chylothorax, Cellulitis, Lymphedema, Pleural effusion, Edema, Panniculitis |
ORPHA:2526 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Thickened nuchal skin fold, Pulmonary lymphangiectasia, Nonimmune hydrops fetalis, Neonatal death... |
OMIM:265380 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Dehydration, Neonatal death |
OMIM:602199 |
Fibrochondrogenesis 1 |
|
Hydrops fetalis, Stillbirth |
OMIM:228520 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Aortic valve stenosis, Flexion contracture, Inguinal hernia, Pulmoni... |
ORPHA:536471 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
High palate, Celiac disease, Cholestatic liver disease, High, narrow palate, Cirrhosis, Hepatic s... |
ORPHA:99413 |
Turner Syndrome |
|
High palate, Celiac disease, Cholestatic liver disease, High, narrow palate, Cirrhosis, Hepatic s... |
ORPHA:881 |
Mosaic Monosomy X |
|
High palate, Celiac disease, Cholestatic liver disease, High, narrow palate, Cirrhosis, Hepatic s... |
ORPHA:99228 |
Monosomy X |
|
High palate, Celiac disease, Cholestatic liver disease, High, narrow palate, Cirrhosis, Hepatic s... |
ORPHA:99226 |
Lethal Congenital Contracture Syndrome 1 |
|
Abnormality of the amniotic fluid, Neonatal death, Edema |
OMIM:253310 |
Gaucher Disease Type 3 |
|
Hepatomegaly, Splenomegaly, Hydrops fetalis, Pulmonary arterial hypertension, Pericardial effusion |
ORPHA:77261 |
Kasabach-Merritt Syndrome |
|
Abnormal lymphatic vessel morphology |
ORPHA:2330 |
Gm1 Gangliosidosis Type 1 |
|
Abnormal placenta morphology, Hepatosplenomegaly, Hydrops fetalis, Cardiomyopathy |
ORPHA:79255 |
Kanzaki Disease |
|
Lip telangiectasia, Lymphedema, Telangiectasia of the oral mucosa |
OMIM:609242 |
Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Pancreatitis, Pelvic mass, Ascites, Jaundice |
ORPHA:370348 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Death in childhood, Nonimmune hydrops fetalis, Pericardial effusion, Death in infancy, Edema, Abn... |
OMIM:212065 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Cholestasis, Esophag... |
OMIM:619534 |
Schneckenbecken Dysplasia |
|
Polyhydramnios, Lymphedema, Cleft palate |
ORPHA:3144 |
Mosaic Variegated Aneuploidy Syndrome |
|
Duodenal atresia, Cleft palate, Stomach cancer, Polyhydramnios, Aortic regurgitation, Intestinal ... |
ORPHA:1052 |
Mgat2-Cdg |
|
Hydrops fetalis, Arrhythmia, Reflex asystolic syncope |
ORPHA:79329 |
Pericardial Effusion, Chronic |
|
Retinal arteriolar tortuosity, Pericardial effusion, Constrictive pericarditis |
OMIM:260900 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Exocrine pancreatic insufficiency, Hepatomegaly, Hepatic failure, Systolic hea... |
OMIM:619991 |
Proteus Syndrome |
|
Lipoma, Lymphangioma, Splenomegaly, Sudden cardiac death, Pulmonary embolism, Neoplasm of the thy... |
ORPHA:744 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Subdural hemorrhage, Dehydration, Hydrops fetalis, Pulmonary embolism, Dilated cardiomyopathy, Pu... |
ORPHA:79282 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hydrops fetalis, Bilateral fetal pyelectasis, Polyhydramnios, Patent ductus arteriosus, Death in ... |
OMIM:300868 |
Alg9-Cdg |
|
Hepatomegaly, Tricuspid regurgitation, Thickened nuchal skin fold, Hydrops fetalis, Oligohydramni... |
ORPHA:79328 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
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Polyhydramnios, Hydrops fetalis |
OMIM:616546 |
Autoimmune Lymphoproliferative Syndrome |
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Hepatomegaly, Splenomegaly, Chronic noninfectious lymphadenopathy, Hydrops fetalis, Vasculitis, L... |
ORPHA:3261 |
Monosomy 22Q13.3 |
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Palpebral edema, Lymphedema, Gastroesophageal reflux, Umbilical hernia |
ORPHA:48652 |
Niemann-Pick Disease Type C |
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Hepatomegaly, Splenomegaly, Hepatic failure, Hepatosplenomegaly, Hydrops fetalis, Dysphagia, Feta... |
ORPHA:646 |
Atresia Of Urethra |
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Pulmonary insufficiency, Oligohydramnios, Ascites |
ORPHA:105 |
Blomstrand Lethal Chondrodysplasia |
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Polyhydramnios, Hydrops fetalis, Premature birth, Coarctation of aorta |
ORPHA:50945 |
Functioning Gonadotropic Adenoma |
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Ascites |
ORPHA:91348 |
Cardiomyopathy, Dilated, 1A |
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Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... |
OMIM:115200 |
Pearson Syndrome |
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Hepatomegaly, Splenomegaly, Corneal stromal edema, Dehydration, Hydrops fetalis, Hypoplastic sple... |
ORPHA:699 |
Juvenile Polyposis Syndrome |
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Small intestinal polyposis, Stomach cancer, Neoplasm of the small intestine, Hematochezia, Gastro... |
ORPHA:2929 |
Congenital Tricuspid Valve Dysplasia |
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Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Tricuspid ... |
ORPHA:555874 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
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Predominantly lower limb lymphedema |
ORPHA:314404 |
Cranioectodermal Dysplasia 2 |
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Hepatomegaly, Splenomegaly, Hydrops fetalis, Polyhydramnios, Hypertension, Polysplenia |
OMIM:613610 |
Mycophenolate Mofetil Embryopathy |
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Hydrops fetalis, Coarctation of aorta |
ORPHA:268249 |
Costello Syndrome |
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Lymphangiectasis, Polyhydramnios |
OMIM:218040 |
Noonan Syndrome 1 |
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High palate, Chylothorax, Cleft palate, High, narrow palate, Pulmonic stenosis, Lymphedema, Hyper... |
OMIM:163950 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
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Supraventricular tachycardia, Abnormal left ventricular function, Sudden cardiac death, Ventricul... |
ORPHA:300751 |
Meacham Syndrome |
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Cardiac total anomalous pulmonary venous connection, Scimitar anomaly, Death in childhood, Access... |
OMIM:608978 |
Niemann-Pick Disease, Type C1 |
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Hepatomegaly, Splenomegaly, Dysphagia, Fatal liver failure in infancy, Prolonged neonatal jaundic... |
OMIM:257220 |
Pearson Marrow-Pancreas Syndrome |
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Dehydration, Death in childhood, Hydrops fetalis |
OMIM:557000 |
Generalized Arterial Calcification Of Infancy |
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Recurrent spontaneous abortion, Stroke, Medial calcification of medium-sized arteries, Arterial c... |
ORPHA:51608 |
Chronic Graft Versus Host Disease |
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Gastroesophageal reflux, Flexion contracture, Xerostomia, Abnormal esophagus morphology, Esophage... |
ORPHA:99921 |
Multiple Pterygium Syndrome, Escobar Variant |
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Hydrops fetalis, Decreased fetal movement |
OMIM:265000 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
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Hydrops fetalis, Tricuspid regurgitation |
OMIM:263520 |
Niemann-Pick Disease, Type C2 |
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Hepatomegaly, Splenomegaly, Polyhydramnios, Dysphagia, Prolonged neonatal jaundice, Fetal ascites... |
OMIM:607625 |
Deafness, Unilateral, With Delayed Endolymphatic Hydrops |
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Edema |
OMIM:612097 |
Pulmonary Capillary Hemangiomatosis |
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Pulmonary edema, Hemothorax, Right ventricular failure, Elevated pulmonary artery pressure, Pedal... |
ORPHA:199241 |
Gaucher Disease |
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Pulmonary arterial hypertension, Hydrops fetalis, Hepatomegaly, Splenomegaly |
ORPHA:355 |
Pmm2-Cdg |
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Angina pectoris, Multiple joint contractures, High palate, Intracranial hemorrhage, Lipodystrophy... |
ORPHA:79318 |
Phocomelia, Schinzel Type |
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Hydrops fetalis |
ORPHA:2879 |
Hepatoerythropoietic Porphyria |
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Abnormality of the amniotic fluid, Nonimmune hydrops fetalis, Edema, Splenomegaly |
ORPHA:95159 |
Cutis Marmorata Telangiectatica Congenita |
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Telangiectasia of the skin, Ascites |
ORPHA:1556 |
Cardiac-Urogenital Syndrome |
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Atrial septal defect, Hypoplastic left heart, Scimitar anomaly, Tachycardia, Tetralogy of Fallot,... |
OMIM:618280 |
Yunis-Varon Syndrome |
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Hydrops fetalis, Renovascular hypertension, Polyhydramnios, Pulmonary arterial hypertension, Hype... |
ORPHA:3472 |
Tetralogy Of Fallot |
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Intrauterine growth retardation, Tetralogy of Fallot |
ORPHA:3303 |
Congenital Tracheal Stenosis |
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Anal atresia, Duodenal atresia, Abnormal stomach morphology, Morphological abnormality of the gas... |
ORPHA:141127 |
Congenital Erythropoietic Porphyria |
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Abnormality of the amniotic fluid, Nonimmune hydrops fetalis, Edema, Splenomegaly |
ORPHA:79277 |
Blackfan-Diamond Anemia |
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Radial artery aplasia, Nonimmune hydrops fetalis, Coarctation of aorta |
ORPHA:124 |
Yunis-Varon Syndrome |
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Hydrops fetalis, Premature birth, Heart murmur, Polyhydramnios, Pulmonary arterial hypertension, ... |
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 |
Tuberous Sclerosis Complex |
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Pulmonary lymphangiomyomatosis, Aortic aneurysm |
ORPHA:805 |
Congenital Heart Defects, Multiple Types, 7 |
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Absence of the pulmonary valve, Pulmonic stenosis, Double aortic arch, Tetralogy of Fallot, Pulmo... |
OMIM:618780 |
Hemangioma, Capillary Infantile |
|
|
OMIM:602089 |