Lymphatic Malformation 11 |
|
Pedal edema, Lymphedema |
OMIM:619401 |
Follicular Lymphoma |
|
Lymphedema, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Pleural effusion |
ORPHA:545 |
Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... |
ORPHA:60041 |
Gjc2-Related Late-Onset Primary Lymphedema |
|
Genital edema, Predominantly lower limb lymphedema, Edema of the dorsum of hands, Facial edema, V... |
ORPHA:568051 |
Yellow Nail Syndrome |
|
Hypoplasia of lymphatic vessels, Predominantly lower limb lymphedema, Lymphedema |
OMIM:153300 |
Choanal Atresia And Lymphedema |
|
Pericardial effusion, Lymphedema |
OMIM:613611 |
Lymphatic Malformation 9 |
|
Tortuous lymphatic vessels, Predominantly lower limb lymphedema |
OMIM:619319 |
Hydrops Fetalis |
|
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnormality of the l... |
ORPHA:1041 |
Lymphedema And Cerebral Arteriovenous Anomaly |
|
Abnormal cerebral vascular morphology, Lymphedema |
OMIM:152900 |
Meige Disease |
|
Predominantly lower limb lymphedema, Edema of the dorsum of hands, Facial edema, Periorbital edem... |
ORPHA:90186 |
Nephrosialidosis |
|
Pericardial effusion, Ascites, Bone-marrow foam cells |
OMIM:256150 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha... |
OMIM:617300 |
Lymphatic Malformation 3 |
|
Lymphedema |
OMIM:613480 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome |
|
Lymphedema |
ORPHA:69061 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Pericardial lymphangiectasia, Lymphedema, Pulmonary lymphangiectasia, Camptodactyly, Intestinal l... |
OMIM:616006 |
Lymphatic Malformation 2 |
|
Lymphedema |
OMIM:611944 |
Lymphatic Malformation 4 |
|
Prominent superficial veins, Pedal edema, Lymphedema |
OMIM:615907 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... |
OMIM:618773 |
Congenital Pulmonary Lymphangiectasia |
|
Hepatomegaly, Tricuspid regurgitation, Congestive heart failure, Splenomegaly, Hydrops fetalis, C... |
ORPHA:2414 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Overriding aorta, Ventricular septal defect, Lymphedema, Patent ductus arteriosus, Hydrops fetali... |
OMIM:601927 |
Lymphatic Malformation 5 |
|
Facial edema, Hypoplasia of lymphatic vessels, Predominantly lower limb lymphedema |
OMIM:153200 |
Lymphatic Malformation 1 |
|
Prominent superficial veins, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Hypo... |
OMIM:153100 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
First degree atrioventricular block, Cardiomegaly, Right atrial enlargement, Atrioventricular blo... |
OMIM:115197 |
Chylous Ascites |
|
Ascites, Lymphedema |
ORPHA:1160 |
Primary Effusion Lymphoma |
|
Pericardial effusion, Abnormal peritoneum morphology, Pleural effusion |
ORPHA:48686 |
Lymphatic Malformation 6 |
|
Genital edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Lymphedema, Perior... |
OMIM:616843 |
Dohle Bodies And Leukemia |
|
Secundum atrial septal defect, Lymphedema |
OMIM:223350 |
Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P... |
OMIM:115200 |
Cholestasis-Lymphedema Syndrome |
|
Splenomegaly, Lymphedema |
OMIM:214900 |
Lymphatic Malformation 12 |
|
Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Neonatal death |
OMIM:620014 |
Melorheostosis |
|
Skeletal muscle atrophy, Peripheral arteriovenous fistula, Lymphedema |
ORPHA:2485 |
Lissencephaly 7 With Cerebellar Hypoplasia |
|
Neonatal death, Arthrogryposis multiplex congenita, Lymphedema |
OMIM:616342 |
Lissencephaly 2 |
|
Lymphedema |
OMIM:257320 |
Kaposi Sarcoma |
|
Venous insufficiency, Abnormality of the spleen, Generalized lymphadenopathy, Lymphedema |
ORPHA:33276 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Pleural effusion, Bradycardia, Hypertrophic cardiomyopathy, A... |
OMIM:614702 |
Preeclampsia/Eclampsia 1 |
|
Elevated hepatic transaminase, Hypertension, Edema |
OMIM:189800 |
German Syndrome |
|
Camptodactyly of finger, Lymphedema, Abnormal cardiac septum morphology, Arthrogryposis multiplex... |
ORPHA:2077 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Lymphedema, Splenomegaly, Lymphadenopathy, Intracranial hemorrhage, Bone marrow hypocellularity |
ORPHA:3226 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Hepatomegaly, Edema, Pulmonary embolism, Co... |
ORPHA:90308 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... |
ORPHA:300751 |
Lymphedema-Hypoparathyroidism Syndrome |
|
Lymphedema, Pulmonary lymphangiectasia, Mitral valve prolapse |
OMIM:247410 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Lymphedema, Cardiomegaly |
ORPHA:3137 |
Milroy Disease |
|
Predominantly lower limb lymphedema, Lymphedema, Pedal edema, Varicose veins, Abnormal venous mor... |
ORPHA:79452 |
Cinca Syndrome |
|
Hepatosplenomegaly, Eosinophilia, Lymphadenopathy, Lymphedema |
OMIM:607115 |
Cantu Syndrome |
|
Bicuspid aortic valve, Lymphedema, Pericardial effusion, Cardiomegaly, Patent ductus arteriosus, ... |
OMIM:239850 |
Lymphatic Malformation 10 |
|
Lymphedema |
OMIM:619369 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hypertrophic cardiomyopathy, Generalized amyotrophy, Lymphedema |
ORPHA:79279 |
Congenital Enterovirus Infection |
|
Abnormal bleeding, Skin rash, Polyhydramnios, Fetal ascites, Pericardial effusion, Myocarditis, H... |
ORPHA:292 |
Capillary Malformation-Arteriovenous Malformation |
|
Peripheral arteriovenous fistula, Nonimmune hydrops fetalis, Cerebral arteriovenous malformation,... |
ORPHA:137667 |
Campomelia, Cumming Type |
|
Polysplenia, Lymphedema |
OMIM:211890 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Predominantly lower limb lymphedema, Palpebral edema, Abnormality of the lymphatic system, Hydrop... |
ORPHA:69735 |
Cholestasis-Lymphedema Syndrome |
|
Splenomegaly, Abnormality of the lymphatic system, Lymphedema |
ORPHA:1414 |
Craniofaciofrontodigital Syndrome |
|
Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Ventricular sep... |
ORPHA:363705 |
Congenital Disorder Of Glycosylation, Type Il |
|
Hepatomegaly, Edema, Pericardial effusion, Hepatosplenomegaly, Abnormal cardiac septum morphology... |
OMIM:608776 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened PR interval, Cardiomyopathy,... |
OMIM:261740 |
Lymphedema, Primary, With Myelodysplasia |
|
Lymphedema |
OMIM:614038 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Pericardial effusion, Abnormal myocardium morphology, Hypersplenism, Splenomegaly, ... |
ORPHA:77259 |
Klippel-Trenaunay-Weber Syndrome |
|
Lymphangioma, Arteriovenous fistula, Lymphedema |
OMIM:149000 |
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth |
|
Varicose veins, Venous malformation, Lymphedema |
OMIM:613089 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Ventricular septal defect, Polyhydramnios, Lymphedema, Thyroid lymphangiectasia, Splenomegaly, Pa... |
OMIM:235255 |
Hypocomplementemic Urticarial Vasculitis |
|
Hepatomegaly, Skin rash, Abnormal heart valve morphology, Pruritus, Pericardial effusion, Angioed... |
ORPHA:36412 |
Greenberg Dysplasia |
|
Lymphedema |
ORPHA:1426 |
Lymphedema-Distichiasis Syndrome |
|
Predominantly lower limb lymphedema, Ventricular septal defect, Nonimmune hydrops fetalis, Lymphe... |
OMIM:153400 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ve... |
ORPHA:555874 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Hepatomegaly, Tachycardia, Elevated hepatic transaminase, Inflammatory abn... |
ORPHA:26793 |
Aicardi-Goutieres Syndrome 9 |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Acute pancreatitis, Chilblains, Portal... |
OMIM:619487 |
Drug-Induced Lupus Erythematosus |
|
Pericarditis, Pericardial effusion, Malar rash, Prolonged QTc interval, Petechiae |
ORPHA:231111 |
Transaldolase Deficiency |
|
Edema, Hydrops fetalis, Hepatosplenomegaly, Coarctation of aorta, Telangiectasia, Biventricular h... |
ORPHA:101028 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Polyhydramnios, Lymphedema |
OMIM:618154 |
Pulmonary Capillary Hemangiomatosis |
|
Pulmonary edema, Diffuse alveolar hemorrhage, Right ventricular failure, Pericardial effusion, Pe... |
ORPHA:199241 |
Chromomycosis |
|
Lymphangiectasis, Predominantly lower limb lymphedema, Edema, Lymphedema |
ORPHA:182 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Pericardial lymphangiectasia, Ventricular septal defect, Nonimmune hydrops fetalis, Lymphedema, P... |
OMIM:235510 |
Mucopolysaccharidosis Type 7 |
|
Lymphedema, Splenomegaly, Hydrops fetalis, Arteriovenous malformation, Ascites |
ORPHA:584 |
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Perianal abscess, Pericardial effusion |
OMIM:614684 |
Cronkhite-Canada Syndrome |
|
Splenomegaly, Lymphedema |
ORPHA:2930 |
Maternal Uniparental Disomy Of Chromosome X |
|
Flexion contracture, Predominantly lower limb lymphedema, Camptodactyly of finger |
ORPHA:261519 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Nonimmune hydrops fetalis, Pericardial effusion, Endocardial fibroelastosis, Restrictive cardiomy... |
OMIM:619313 |
Clapo Syndrome |
|
Lymphangioma, Varicose veins, Venous malformation, Lymphedema |
ORPHA:168984 |
Q Fever |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Maculopapular exanthema, Abnormal hear... |
ORPHA:781 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Polyhydramnios, Pericardial effusion, Multiple muscular ventricular septal defects, Atrial septal... |
OMIM:620070 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphedema |
ORPHA:1116 |
Kaposiform Lymphangiomatosis |
|
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Pericardial effusion, Pancreatic cysts, Spleno... |
ORPHA:464329 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Abnormal left ventricular function, Cholecystitis, Morbilliform rash, Ecchym... |
ORPHA:99827 |
Yellow Nail Syndrome |
|
Hypoplasia of lymphatic vessels, Lymphedema |
ORPHA:662 |
Lymphatic Malformation 13 |
|
Nonimmune hydrops fetalis, Lymphedema, Patent ductus arteriosus, Neonatal death, Atrial septal de... |
OMIM:620244 |
Dahlberg-Borer-Newcomer Syndrome |
|
Lymphedema, Mitral valve prolapse |
ORPHA:1563 |
Al-Gazali-Bakalinova Syndrome |
|
Lymphedema |
OMIM:607131 |
Congenital Factor X Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... |
ORPHA:328 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Pericardial effusion |
OMIM:613885 |
Tenosynovial Giant Cell Tumor |
|
Joint swelling, Lymphedema |
ORPHA:66627 |
Pediatric Systemic Lupus Erythematosus |
|
Skin rash, Edema, Raynaud phenomenon, Discoid lupus rash, Pericardial effusion, Ascites, Increase... |
ORPHA:93552 |
Ring Chromosome 22 Syndrome |
|
Pleural effusion, Edema, Lymphedema |
ORPHA:1446 |
Amyloidosis, Familial Visceral |
|
Hepatomegaly, Skin rash, Edema, Splenomegaly, Cholestasis, Hypertension |
OMIM:105200 |
Lymphangiectasia, Intestinal |
|
Intestinal lymphangiectasia, Stillbirth, Edema, Pedal edema |
OMIM:152800 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Chole... |
OMIM:618775 |
Autosomal Erythropoietic Protoporphyria |
|
Eczema, Edema, Pruritus, Decreased liver function, Cirrhosis, Cholelithiasis |
ORPHA:79278 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Palpebral edema, Nonimmune hydrops fetalis, Pulmonary lymphangiectasia, Lymphedema |
OMIM:137940 |
Noonan Syndrome 13 |
|
Atrial septal defect, Lymphedema, Mitral valve prolapse |
OMIM:619087 |
Hennekam Syndrome |
|
Camptodactyly of finger, Lymphedema, Pericardial effusion, Splenomegaly, Pulmonary lymphangiectas... |
ORPHA:2136 |
Cardiac-Urogenital Syndrome |
|
Accessory spleen, Prolonged bleeding time, Tachycardia, Cor triatrium sinister, Ventricular septa... |
OMIM:618280 |
Fabry Disease |
|
Left ventricular hypertrophy, Transient ischemic attack, Ventricular septal hypertrophy, Lymphedema |
OMIM:301500 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Lymphedema |
OMIM:152950 |
Monosomy 18P |
|
Lymphedema |
ORPHA:1598 |
Lymphatic Filariasis |
|
Predominantly lower limb lymphedema, Lymphedema, Lymphadenitis, Abnormality of the lymphatic syst... |
ORPHA:2035 |
Distal Xq28 Microduplication Syndrome |
|
Predominantly lower limb lymphedema, Patent ductus arteriosus, Patent foramen ovale, Upper eyelid... |
ORPHA:293939 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Nonimmune hydrops fetalis, Edema, Peri... |
OMIM:212065 |
Lymphangioleiomyomatosis |
|
Lymphedema, Abnormality of the lymphatic system, Chylopericardium, Lymphadenopathy, Chylothorax, ... |
ORPHA:538 |
Acute Interstitial Pneumonia |
|
Pericardial effusion, Hypertension, Pleural effusion, Peripheral edema |
ORPHA:79126 |
Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Elevated pulmonary artery pressure, Edema, Pulmonary edema |
OMIM:178400 |
Lymphoproliferative Syndrome 1 |
|
Pericardial effusion, Hepatomegaly, Pleural effusion, Splenomegaly |
OMIM:613011 |
Takenouchi-Kosaki Syndrome |
|
Lymphedema, Patent ductus arteriosus, Abnormal cardiac septum morphology, Pulmonic stenosis, Camp... |
OMIM:616737 |
Glycogen Storage Disease Iv |
|
Portal hypertension, Edema, Polyhydramnios, Hydrops fetalis, Hepatosplenomegaly, Cardiomyopathy, ... |
OMIM:232500 |
Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Edema, Pericardial effusion, Pleural effusion, Ascites, Generalized edema |
ORPHA:90362 |
Protoporphyria, Erythropoietic, 1 |
|
Eczema, Edema, Pruritus, Cholelithiasis, Hepatic failure |
OMIM:177000 |
Cerebrofacioarticular Syndrome |
|
Lymphedema, Camptodactyly, Pulmonic stenosis, Abnormal heart morphology |
ORPHA:314679 |
Aicardi-Goutieres Syndrome 7 |
|
Hepatomegaly, Skin rash, Chilblains, Edema, Hematemesis, Pericardial effusion, Splenomegaly, Vasc... |
OMIM:615846 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Polyhydramnios, Pericardial effusion, Hematochezia, Anasarca, Pleural effusion, Ascites |
OMIM:618183 |
Familial Exudative Vitreoretinopathy |
|
Macular edema, Lymphedema |
ORPHA:891 |
Poems Syndrome |
|
Edema, Pericardial effusion, Abnormality of skin physiology, Pulmonary arterial hypertension, Ple... |
ORPHA:2905 |
Campomelia, Cumming Type |
|
Oligohydramnios, Hydrops fetalis, Lymphedema |
ORPHA:1318 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pericardial effusion, Pleural effusion |
ORPHA:411703 |
Phelan-Mcdermid Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Palpebral edema, Lymphedema |
OMIM:606232 |
Infantile Systemic Hyalinosis |
|
Camptodactyly of finger, Aplasia/Hypoplasia of the thymus, Lymphedema |
ORPHA:2176 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Pericardial effusion, Cardiomyopathy |
OMIM:620089 |
Chédiak-Higashi Syndrome |
|
Abnormal bleeding, Elevated hepatic transaminase, Recurrent bacterial skin infections, Skin rash,... |
ORPHA:167 |
Thymic Carcinoma |
|
Palpebral edema, Edema, Neoplasm of the thymus, Mediastinal lymphadenopathy, Abnormal vena cava m... |
ORPHA:99868 |
Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Palpebral edema |
OMIM:607823 |
Generalized Arterial Calcification Of Infancy |
|
Medial calcification of large arteries, Edema, Polyhydramnios, Cardiomegaly, Medial calcification... |
ORPHA:51608 |
Congenital Fibrinogen Deficiency |
|
Abnormal bleeding, Tachycardia, Internal hemorrhage, Splenic rupture, Prolonged prothrombin time,... |
ORPHA:335 |
Noonan Syndrome |
|
Abnormal pulmonary valve morphology, Lymphedema, Abnormality of the spleen, Pulmonary artery sten... |
ORPHA:648 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Bicuspid aortic valve, Polyhydramnios, Lymphedema, Splenomegaly, Hepatosplenomegaly, Chylothorax,... |
OMIM:613563 |
Mpi-Cdg |
|
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal circulating enzyme concentration or activity,... |
ORPHA:79319 |
Secondary Intestinal Lymphangiectasia |
|
Intestinal lymphedema, Edema, Lymphedema, Chylous ascites, Anasarca, Constrictive pericarditis, P... |
ORPHA:90363 |
Oculoectodermal Syndrome |
|
Transient ischemic attack, Lymphedema, Patent ductus arteriosus, Coarctation of aorta, Atrial sep... |
OMIM:600268 |
Gaucher Disease Type 3 |
|
Hepatomegaly, Mitral valve calcification, Abnormal heart valve morphology, Pericardial effusion, ... |
ORPHA:77261 |
Acquired Purpura Fulminans |
|
Shock, Skin rash, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Hepatic f... |
ORPHA:49566 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Lymphedema, Cardiomegaly |
ORPHA:79280 |
Cardiofaciocutaneous Syndrome |
|
Abnormal heart valve morphology, Lymphedema, Pulmonic stenosis, Atrial septal defect, Hypertrophi... |
ORPHA:1340 |
Alkuraya-Kucinskas Syndrome |
|
Pericardial effusion, Pleural effusion, Edema |
OMIM:617822 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Skeletal muscle atrophy, Lymphedema, Intracranial hemorrhage, Myopathy, Arteriovenous malformatio... |
ORPHA:109 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Hep... |
ORPHA:73224 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Lymphedema, Patent ductus arteriosus, Abnormality of the lymphatic system, Flexion contracture, A... |
ORPHA:487796 |
Lethal Congenital Contracture Syndrome 2 |
|
Skeletal muscle atrophy, Ventricular septal defect, Polyhydramnios, Edema, Dilated cardiomyopathy... |
OMIM:607598 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Prominent scalp veins, Abnormal right hemidiaphragm morphology, Multiple joint contractures, Abno... |
ORPHA:536471 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Carotid artery stenosis, Pericardial effusion, Mitral valve prolapse, Aortic root aneurysm, Umbil... |
ORPHA:536532 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Distal amyotrophy, Lower limb muscle weakness, Generalized limb muscle atrophy, Lymphedema |
ORPHA:2822 |
Alg9-Cdg |
|
Hepatomegaly, Tricuspid regurgitation, Ventricular septal defect, Pericardial effusion, Hydrops f... |
ORPHA:79328 |
Lymphangiectasia, Pulmonary, Congenital |
|
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... |
OMIM:265300 |
Lymphedema-Distichiasis Syndrome |
|
Varicose veins, Patent ductus arteriosus, Predominantly lower limb lymphedema |
ORPHA:33001 |
Ogden Syndrome |
|
Torticollis, Pulmonary edema, Bicuspid aortic valve, Left atrial enlargement, Ventricular septal ... |
OMIM:300855 |
Spondyloocular Syndrome |
|
Atrial septal defect, Lymphedema, Mitral valve prolapse, Dysplastic aortic valve |
OMIM:605822 |
Cardiac Valvular Dysplasia 1 |
|
Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Edema, Valvular pulmonary... |
OMIM:212093 |
Fabry Disease |
|
Abnormal endocardium morphology, Transient ischemic attack, Lymphedema, Abnormal aortic valve mor... |
ORPHA:324 |
Phakomatosis Pigmentokeratotica |
|
Rhabdomyosarcoma, Lymphedema |
ORPHA:2874 |
Aneurysm Of Sinus Of Valsalva |
|
Aortic regurgitation, Edema, Congestive heart failure, Heart murmur, Bacterial endocarditis, Dila... |
ORPHA:1054 |
Rhabdoid Tumor |
|
Hypertension, Internal hemorrhage, Neoplasm of the liver |
ORPHA:69077 |
Hellp Syndrome |
|
Elevated hepatic transaminase, Pulmonary edema, Cerebral hemorrhage, Prolonged prothrombin time, ... |
ORPHA:244242 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Lymphedema |
OMIM:300291 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Edema, Lymphedema, Chylothorax, Atrial septal defect, Pleural effusion |
ORPHA:2526 |
Noonan Syndrome 1 |
|
Ventricular septal defect, Lymphedema, Patent ductus arteriosus, Coarctation of aorta, Chylothora... |
OMIM:163950 |
Melkersson-Rosenthal Syndrome |
|
Facial palsy, Edema, Periorbital edema, Lymphadenopathy, Macroglossia |
ORPHA:2483 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Skeletal muscle atrophy, Myositis, Edema, Splenomegaly, Flexion contracture, Lymphadenopathy |
OMIM:619183 |
Aymé-Gripp Syndrome |
|
Patent ductus arteriosus, Pericarditis, Pericardial effusion |
ORPHA:1272 |
Myhre Syndrome |
|
Ventricular septal defect, Pericardial effusion, Patent ductus arteriosus, Coarctation of aorta, ... |
OMIM:139210 |
Gitelman Syndrome |
|
Prolonged QT interval, Neoplasm of the pancreas, Raynaud phenomenon, Pericardial effusion, Low-to... |
ORPHA:358 |
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
|
Predominantly lower limb lymphedema |
OMIM:604121 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Aortic arch aneurysm, Arterial dissection, Bicuspid aortic valve, Lymphedema, Gastrointestinal an... |
ORPHA:99413 |
Turner Syndrome |
|
Aortic arch aneurysm, Arterial dissection, Bicuspid aortic valve, Lymphedema, Gastrointestinal an... |
ORPHA:881 |
Mosaic Monosomy X |
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Aortic arch aneurysm, Arterial dissection, Bicuspid aortic valve, Lymphedema, Gastrointestinal an... |
ORPHA:99228 |
Monosomy X |
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Aortic arch aneurysm, Arterial dissection, Bicuspid aortic valve, Lymphedema, Gastrointestinal an... |
ORPHA:99226 |
Kanzaki Disease |
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Lacunar stroke, Lymphedema |
OMIM:609242 |
Tsh-Secreting Pituitary Adenoma |
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Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Hypertension, Palpit... |
ORPHA:91347 |
Sarcoidosis, Susceptibility To, 1 |
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Hepatomegaly, Pericardial effusion, Splenomegaly, Pulmonary arterial hypertension, Pleural effusion |
OMIM:181000 |
Schneckenbecken Dysplasia |
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Polyhydramnios, Lymphedema |
ORPHA:3144 |
Proteus Syndrome |
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Thymus hyperplasia, Decreased muscle mass, Lymphedema, Neoplasm of the thymus, Splenomegaly, Myof... |
ORPHA:744 |
Hemorrhagic Fever-Renal Syndrome |
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Shock, Elevated hepatic transaminase, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intrac... |
ORPHA:340 |
Inhalational Anthrax |
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Internal hemorrhage, Hypotension |
ORPHA:247257 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
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Predominantly lower limb lymphedema |
ORPHA:314404 |
Monosomy 22Q13.3 |
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Palpebral edema, Lymphedema |
ORPHA:48652 |
Marburg Hemorrhagic Fever |
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Abnormal bleeding, Shock, Tachycardia, Pericarditis, Elevated hepatic transaminase, Maculopapular... |
ORPHA:99826 |
Wiskott-Aldrich Syndrome |
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Prolonged bleeding time, Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden cardiac death, Ec... |
ORPHA:906 |
Yellow Fever |
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Abnormal bleeding, Shock, Acute pancreatitis, Skin rash, Elevated circulating aspartate aminotran... |
ORPHA:99829 |
Pmm2-Cdg |
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Elevated hepatic transaminase, Pericarditis, Angina pectoris, Lymphedema, Pericardial effusion, A... |
ORPHA:79318 |
Tuberous Sclerosis Complex |
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Cardiac rhabdomyoma, Hypertension, Internal hemorrhage, Hepatic cysts, Aortic aneurysm |
ORPHA:805 |
Superficial Siderosis |
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Abnormal bleeding, Persistent bleeding after trauma, Internal hemorrhage, Subarachnoid hemorrhage |
ORPHA:247245 |
Vascular Ehlers-Danlos Syndrome |
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Abnormal bleeding, Telangiectasia of the skin, Transient ischemic attack, Abnormal heart valve mo... |
ORPHA:286 |