| Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... |
OMIM:620058 |
| Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Morning glory anomaly, Remnants of the hyaloid vascular system, Optic nerve ... |
OMIM:165550 |
| Leber Hereditary Optic Neuropathy, Modifier Of |
|
Optic atrophy, Leber optic atrophy |
OMIM:308905 |
| Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:619324 |
| Central Retinal Vein Occlusion |
|
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti... |
ORPHA:411527 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... |
OMIM:305390 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... |
ORPHA:79506 |
| Microphthalmia/Coloboma 12 |
|
Optic disc coloboma, Chorioretinal coloboma, Optic nerve aplasia, Remnants of the hyaloid vascula... |
OMIM:120200 |
| Familial Exudative Vitreoretinopathy |
|
Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional retinal detac... |
ORPHA:891 |
| Eales Disease |
|
Epistaxis, Macular edema, Rubeosis iridis, Retinal thinning, Peripheral retinal neovascularizatio... |
ORPHA:40923 |
| Vitreoretinopathy, Neovascular Inflammatory |
|
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V... |
OMIM:193235 |
| Pancreatic Lipase Deficiency |
|
Steatorrhea, Hypocholesterolemia |
OMIM:614338 |
| Exudative Vitreoretinopathy 1 |
|
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... |
OMIM:133780 |
| Macular Dystrophy, Retinal, 3 |
|
Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Retinal neovascularizati... |
OMIM:608850 |
| Secondary Intestinal Lymphangiectasia |
|
Hypoalbuminemia, Increased stool alpha1-antitrypsin concentration, Intestinal bleeding, Volvulus,... |
ORPHA:90363 |
| Alpha-Heavy Chain Disease |
|
Ascites, Abnormal small intestine morphology, Splenomegaly, Hypocalcemia, Lymphadenopathy, Hepato... |
ORPHA:100025 |
| Lymphangiectasia, Pulmonary, Congenital |
|
Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Chylous ascites, Pleural effusion, Nonimmu... |
OMIM:265300 |
| Vitreoretinochoroidopathy |
|
Pigmentary retinopathy, Retinal arteriolar constriction, Abnormality of chorioretinal pigmentatio... |
OMIM:193220 |
| Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
| Venous Malformations, Multiple Cutaneous And Mucosal |
|
Intestinal bleeding, Venous malformation |
OMIM:600195 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypocholesterolemia, Elevated circulating aspartate amin... |
OMIM:615558 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Gastroesophageal reflux, Ascite... |
ORPHA:2198 |
| Focal Segmental Glomerulosclerosis 1 |
|
Hypoalbuminemia, Ascites, Hyperlipidemia, Pleural effusion, Edema |
OMIM:603278 |
| Chylomicron Retention Disease |
|
Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Accumulation of lipid droplets in smal... |
OMIM:246700 |
| Glycogen Storage Disease Vi |
|
Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Hypertriglyceridemia, Hy... |
OMIM:232700 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased LDL ... |
OMIM:616829 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Hypocholesterolemia, Hypersplenism, Splenomegaly |
OMIM:610539 |
| Sitosterolemia 2 |
|
Hypercholesterolemia, Elevated circulating sitosterol concentration |
OMIM:618666 |
| Splenoportal Vascular Anomalies |
|
Ascites, Splenomegaly, Hyperammonemia |
OMIM:271500 |
| Pseudomyxoma Peritonei |
|
Ascites, Inflammation of the large intestine, Lymphadenopathy, Intestinal obstruction |
ORPHA:26790 |
| Microphthalmia, Isolated 8 |
|
Hypoplastic optic chiasm, Retinal coloboma, True anophthalmia, Anophthalmia, Retinal detachment, ... |
OMIM:615113 |
| Ascites, Chylous |
|
Chylous ascites |
OMIM:208300 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... |
OMIM:607765 |
| Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Optic nerve hypoplasia |
ORPHA:1068 |
| Hypercholesterolemia, Familial, 4 |
|
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:603813 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Macular edema, Cardiomyopathy, Punctate vasculitis skin lesions, Tel... |
ORPHA:247691 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Hypoalbuminemia, Ascites, Hypocholesterolemia, Villous atrophy, Splenomegaly, Hepatomegaly, Hydro... |
OMIM:608776 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
| Hepatic Veno-Occlusive Disease |
|
Ascites, Hepatomegaly, Increased total bilirubin |
ORPHA:890 |
| Chylous Ascites |
|
Abnormal intestine morphology, Ascites, Lymphedema |
ORPHA:1160 |
| Wolman Disease |
|
Ascites, Splenomegaly, Hepatomegaly, Steatorrhea, Esophageal varix |
ORPHA:75233 |
| Hydrops Fetalis |
|
Generalized edema, Lymphedema, Ascites, Pleural effusion, Abnormality of the lymphatic system, No... |
ORPHA:1041 |
| Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Hypocholesterolemia, Decreased LDL cholesterol concentration, Decreased HDL cholesterol concentra... |
OMIM:616834 |
| Infantile Sialic Acid Storage Disease |
|
Ascites, Splenomegaly, Hepatomegaly, High palate, Hydrops fetalis, Conjugated hyperbilirubinemia |
OMIM:269920 |
| Eosinophilic Gastroenteritis |
|
Hypoalbuminemia, Protein-losing enteropathy, Hematochezia, Ascites, Abnormality of the gastrointe... |
ORPHA:2070 |
| Congenital Pulmonary Lymphangiectasia |
|
Gastroesophageal reflux, Ascites, Pleural effusion, Splenomegaly, Hepatomegaly, Hydrops fetalis, ... |
ORPHA:2414 |
| Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Ascites, Increased total bilirubin |
OMIM:174050 |
| Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Retinal neovascularization |
OMIM:619074 |
| Griscelli Syndrome |
|
Bone marrow hypocellularity, Abnormal circulating lipid concentration, Ascites, Splenomegaly, Lym... |
ORPHA:381 |
| Primary Intestinal Lymphangiectasia |
|
Hypoalbuminemia, Increased stool alpha1-antitrypsin concentration, Generalized edema, Hypomagnese... |
ORPHA:90362 |
| Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
| Bornholm Eye Disease |
|
Abnormality of retinal pigmentation, Optic nerve hypoplasia |
OMIM:300843 |
| Glycogen Storage Disease Iv |
|
Edema, Ascites, Abnormal circulating creatine kinase concentration, Hepatosplenomegaly, Polyhydra... |
OMIM:232500 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoalbuminemia, Generalized edema, Intestinal lymphangiectasia, Ascites, Intestinal obstruction,... |
OMIM:226300 |
| Hyperlipidemia, Familial Combined, 3 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... |
OMIM:144250 |
| Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Ascites, Oligohydramnios, Polyhydramnios, Splenomegaly |
ORPHA:1046 |
| Fetal Parvovirus Syndrome |
|
Ascites, Increased nuchal translucency, Hydrops fetalis |
ORPHA:295 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Splenomegaly, Lymphadenopathy, Hypertriglyceridemia... |
OMIM:603552 |
| Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia |
OMIM:206900 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Ascites, Oligohydramnios, Pleural effusion, Hyperammonemia, Hyperalaninemia, Pericardial effusion |
OMIM:614702 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Hypoalbuminemia, Protein-losing enteropathy, Ascites, Elevated circulating creatinine concentrati... |
OMIM:608104 |
| Sialidosis Type 2 |
|
Ascites, Splenomegaly, Hepatomegaly, Hydrops fetalis, Pedal edema |
ORPHA:87876 |
| Congenital Toxoplasmosis |
|
Hepatomegaly, Lymphadenopathy, Ascites |
ORPHA:858 |
| Diffuse Neonatal Hemangiomatosis |
|
Ascites, Polyhydramnios, Hepatomegaly, Hydrops fetalis, Hypercalcemia |
ORPHA:2123 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, ... |
OMIM:613101 |
| Joubert Syndrome 40 |
|
Optic nerve hypoplasia |
OMIM:619582 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Protein-losing enteropathy, Hematochezia, Anasarca, Hypomagnesemia, Ascites, Ple... |
OMIM:618183 |
| Nephrosialidosis |
|
Ascites, Pericardial effusion |
OMIM:256150 |
| Craniotelencephalic Dysplasia |
|
Optic nerve hypoplasia, Microphthalmia |
OMIM:218670 |
| Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Fetal ascites, Polyhydramnios, Splenomegaly, Hepatomegaly, Hydrops fetalis |
OMIM:619462 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Ascites, Splenomegaly, Hepatomegaly, Esophageal varix, Hepatocellular carcinoma |
OMIM:619463 |
| Hepatoportal Sclerosis |
|
Hypoalbuminemia, Gastrointestinal hemorrhage, Ascites, Hypersplenism, Hyperbilirubinemia, Splenom... |
ORPHA:64743 |
| Desmoplastic Small Round Cell Tumor |
|
Ascites, Ileus, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy |
ORPHA:83469 |
| Tafro Syndrome |
|
Anasarca, Ascites, Hepatosplenomegaly, Pleural effusion, Splenomegaly, Hepatomegaly, Lymphadenopa... |
ORPHA:457077 |
| Hemochromatosis, Type 1 |
|
Increased circulating iron concentration, Increased circulating ferritin concentration, Ascites, ... |
OMIM:235200 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Predominantly lower limb lymphedema, Ascites, Pleural effusion, Abnormality of the lymphatic syst... |
ORPHA:69735 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Protein-losing enteropathy, Lymphedema, Pancreatic lymphangiectasis, Ascites, Polyhydramnios, Hyp... |
OMIM:235255 |
| 14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Anophthalmia |
ORPHA:264200 |
| Mitchell-Riley Syndrome |
|
Meckel diverticulum, Anteriorly placed anus, Intestinal malrotation, Ascites, Hyperbilirubinemia,... |
OMIM:615710 |
| Ovarian Hyperstimulation Syndrome |
|
Ascites |
OMIM:608115 |
| Peroxisome Biogenesis Disorder 3B |
|
Steatorrhea, Elevated circulating phytanic acid concentration, Hypocholesterolemia, Hepatomegaly |
OMIM:266510 |
| Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Abnormal cerebral vascular morphology, Pulmonary embolism, Retinopathy, Venous insufficiency |
ORPHA:743 |
| Septooptic Dysplasia |
|
Optic disc hypoplasia, Optic nerve hypoplasia |
OMIM:182230 |
| Lymphoproliferative Syndrome 2 |
|
Ascites, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Hepatomegaly |
OMIM:615122 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Ascites, Hepatomegaly, Splenomegaly, Increased serum bile acid concentration |
OMIM:602347 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hypoalbuminemia, Ascites, Hepatosplenomegaly, Polyhydramnios, Nonimmune hydrops fetalis, Hepatome... |
ORPHA:367 |
| Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Optic nerve hypoplasia |
ORPHA:65288 |
| Polymicrogyria With Optic Nerve Hypoplasia |
|
Optic nerve hypoplasia |
ORPHA:250972 |
| Lymphatic Malformation 6 |
|
Facial edema, Generalized edema, Gastroesophageal reflux, Chylothorax, Lymphedema, Intestinal lym... |
OMIM:616843 |
| Burkitt Lymphoma |
|
Gastrointestinal hemorrhage, Abnormal lymph node morphology, Abnormality of the spleen, Hyperuric... |
ORPHA:543 |
| Primary Biliary Cholangitis |
|
Hypoalbuminemia, Abnormal circulating lipid concentration, Ascites, Xanthelasma, Splenomegaly, He... |
ORPHA:186 |
| Free Sialic Acid Storage Disease |
|
Hepatomegaly, Hydrops fetalis, Splenomegaly, Ascites |
ORPHA:834 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypermethioninemia, Elevated gamma-glutamyltransferase level, Intrahepatic cholestasis, Decreased... |
OMIM:605814 |
| Combined Oxidative Phosphorylation Deficiency 5 |
|
Ascites, Hyperammonemia, Edema |
OMIM:611719 |
| Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Ascites, Gastrointestinal infarctions, Splenomegaly, Intestinal obst... |
ORPHA:131 |
| Hepatic Lipase Deficiency |
|
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:614025 |
| Chylomicron Retention Disease |
|
Steatorrhea, Hypocholesterolemia, Elevated circulating hepatic transaminase concentration |
ORPHA:71 |
| Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Ascites, Pleural effusion, Hyperammonemia, Nonimmune hydrops fetalis, Conjugated hyperbilirubinem... |
OMIM:617049 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Atrioventricular block, Tetralogy of Fallot, Atrioventricular dissociation, Persistent left super... |
OMIM:614954 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hypoalbuminemia, Facial edema, Edema, Anasarca, Ascites, Hyperlipidemia, Pleural effusion, Palpeb... |
ORPHA:567546 |
| Congenital Disorder Of Glycosylation, Type Iir |
|
Ascites, Hepatomegaly |
OMIM:301045 |
| Cardiomyopathy, Familial Restrictive, 6 |
|
Ascites, Hepatomegaly, Hydrops fetalis |
OMIM:619433 |
| Gracile Bone Dysplasia |
|
Ascites, Ankyloglossia, Hypocalcemia, Asplenia, Hypoplastic spleen |
OMIM:602361 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hepatomegaly, Hypocholesterolemia, Polyhydramnios, Neonatal death |
OMIM:618810 |
| Neuraminidase Deficiency |
|
Facial edema, Ascites, Splenomegaly, Hepatomegaly, Hydrops fetalis |
OMIM:256550 |
| Lymphatic Malformation 7 |
|
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... |
OMIM:617300 |
| Craniotelencephalic Dysplasia |
|
Optic atrophy, Septo-optic dysplasia, Microphthalmia |
ORPHA:1528 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Optic nerve hypoplasia, Retinal detachment, Microphthalmia |
OMIM:615181 |
| Potocki-Lupski Syndrome |
|
Hypocholesterolemia |
OMIM:610883 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Protein-losing enteropathy, Pancreatic lymphangiectasis, Ascites, Hepatosplenomegaly, Polyhydramn... |
ORPHA:1655 |
| Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Inflammation of the large intestine, Increased total bilirubin, Asci... |
ORPHA:2137 |
| Hypocomplementemic Urticarial Vasculitis |
|
Angioedema, Ascites, Pleural effusion, Splenomegaly, Lymphadenopathy, Hepatomegaly, Pericardial e... |
ORPHA:36412 |
| Niemann-Pick Disease, Type A |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites |
OMIM:257200 |
| Squalene Synthase Deficiency |
|
Hypocholesterolemia, Decreased LDL cholesterol concentration, Elevated circulating methylsuccinic... |
OMIM:618156 |
| Malignant Peritoneal Mesothelioma |
|
Ascites, Ileus, Pedal edema |
ORPHA:168811 |
| Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Pulmonary embolism, Abnormal cerebral vascular morphology, Venous insufficiency |
ORPHA:745 |
| Chromosome 19P13.13 Deletion Syndrome |
|
Optic atrophy, Optic nerve hypoplasia |
OMIM:613638 |
| Alg8-Cdg |
|
Ascites, Oligohydramnios, Hyponatremia, Abnormality of the gastrointestinal tract, Macroglossia, ... |
ORPHA:79325 |
| Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Anasarca, Cervical lymphadenopathy, Ascites, Perianal dermatitis, Villous atr... |
OMIM:619573 |
| Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Peripheral arterial stenosis, Varicose veins, Patent ductus arteriosus, Sinus bradycardia |
OMIM:126320 |
| X-Linked Intellectual Disability, Najm Type |
|
Optic atrophy, Chorioretinal coloboma, Optic nerve hypoplasia |
ORPHA:163937 |
| Mulibrey Nanism |
|
Hepatomegaly, Microglossia, Hydrops fetalis, Ascites |
OMIM:253250 |
| Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Ascites, Hepatosplenomegaly, Hypersplenism, Lymphadenopathy |
ORPHA:98850 |
| Fish-Eye Disease |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Decreased HDL cholesterol concentration |
ORPHA:79292 |
| Cognitive Impairment With Or Without Cerebellar Ataxia |
|
Optic nerve hypoplasia |
OMIM:614306 |
| Angioosteohypotrophic Syndrome |
|
Telangiectasia of the skin, Venous malformation, Prominent superficial veins |
ORPHA:75508 |
| Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Aplasia/Hypoplasia of the optic nerve, Optic nerve hypoplasia |
ORPHA:137634 |
| Gaucher Disease Type 1 |
|
Elevated circulating CCL18 level, Splenic infarction, Increased circulating ferritin concentratio... |
ORPHA:77259 |
| Lysosomal Acid Lipase Deficiency |
|
Dehydration, Ascites, Xanthelasma, Hepatosplenomegaly, Hypersplenism, Hyponatremia, Hypercholeste... |
ORPHA:275761 |
| Dengue Fever |
|
Hepatomegaly, Gastrointestinal hemorrhage, Hypoproteinemia, Ascites |
ORPHA:99828 |
| Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Optic nerve hypoplasia |
OMIM:618890 |
| Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Pulmonary embolism, Congestive heart failure, Venous insufficiency, ... |
ORPHA:90308 |
| Pediatric Systemic Lupus Erythematosus |
|
Ascites, Pleural effusion, Abnormality of the gastrointestinal tract, Lymphadenopathy, Pericardia... |
ORPHA:93552 |
| Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To |
|
Nonarteritic anterior ischemic optic neuropathy |
OMIM:258660 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Hypoalbuminemia, Oligohydramnios, Ascites, Nonimmune hydrops fetalis |
OMIM:617021 |
| Cirrhosis, Familial |
|
Ascites, Increased level of propylene glycol in blood, Esophageal varix |
OMIM:215600 |
| Tangier Disease |
|
Hypocholesterolemia, Hepatosplenomegaly, Chronic noninfectious lymphadenopathy, Orange discolored... |
ORPHA:31150 |
| Grfoma |
|
Gastrointestinal hemorrhage, Abnormal abdomen morphology, Increased circulating cortisol level, N... |
ORPHA:97261 |
| 5Q14.3 Microdeletion Syndrome |
|
Optic nerve hypoplasia |
ORPHA:228384 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypoalbuminemia, Generalized edema, Increased circulating ferritin concentration, Increased total... |
OMIM:267700 |
| Cirrhotic Cardiomyopathy |
|
Abnormal circulating B-type natriuretic peptide concentration, Ascites, Peripheral edema, Pulmona... |
ORPHA:57777 |
| Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities |
|
Optic nerve hypoplasia |
OMIM:620502 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ascites, Pleural effusion, Polyhydramnios, Hydrops fetalis, Cleft palate |
OMIM:616897 |
| Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration |
OMIM:603776 |
| Familial Multiple Nevi Flammei |
|
Arteriovenous malformation, Pulmonary embolism, Venous insufficiency, Arrhythmia, Intracranial he... |
ORPHA:624 |
| Griscelli Syndrome Type 2 |
|
Hepatomegaly, Hyperlipidemia, Splenomegaly, Lymphadenopathy |
ORPHA:79477 |
| Hennekam Syndrome |
|
Chylothorax, Lymphedema, Ascites, Hypocalcemia, Splenomegaly, Lymphadenopathy, Hydrops fetalis, P... |
ORPHA:2136 |
| Reynolds Syndrome |
|
Gastroesophageal reflux, Xerostomia, Ascites, Abnormal gastric mucosa morphology, Hepatomegaly, D... |
ORPHA:779 |
| Wolcott-Rallison Syndrome |
|
Hypoalbuminemia, Ascites, Hyperbilirubinemia, Hyperammonemia, Hyponatremia, Hepatomegaly, Dehydra... |
ORPHA:1667 |
| Squamous Cell Carcinoma Of The Anal Canal |
|
Anal stenosis, Intestinal bleeding, Neoplasm of the liver, Neoplasm of the rectum, Anal canal squ... |
ORPHA:424019 |
| Proteus Syndrome |
|
Venous malformation |
OMIM:176920 |
| Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Arteriovenous fistulas of celiac and mesenteric vessels, Spinal arteriovenous malformation, Right... |
OMIM:610655 |
| Optic Atrophy-Intellectual Disability Syndrome |
|
Optic atrophy, Optic disc hypoplasia, Optic nerve hypoplasia |
ORPHA:401777 |
| Poems Syndrome |
|
Visceromegaly, Ascites, Pleural effusion, Splenomegaly, Lymphadenopathy, Hepatomegaly, Pericardia... |
ORPHA:2905 |
| Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Peripheral axonal neuropathy, Optic atrophy, Optic nerve hypoplasia |
ORPHA:496790 |
| Optic Atrophy 11 |
|
Optic atrophy, Cherry red spot of the macula, Facial diplegia, Decreased sensory nerve conduction... |
OMIM:617302 |
| Gaucher Disease, Perinatal Lethal |
|
Ascites, Hepatosplenomegaly, Polyhydramnios, Splenomegaly, Neonatal death, Nonimmune hydrops feta... |
OMIM:608013 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hypoalbuminemia, Ascites, Hyperbilirubinemia, Splenomegaly, Hepatomegaly, Elevated circulating al... |
OMIM:251880 |
| Caroli Disease |
|
Ascites, Splenomegaly, Cholangiocarcinoma, Hepatomegaly, Conjugated hyperbilirubinemia, Esophagea... |
ORPHA:53035 |
| Classic Galactosemia |
|
Hepatomegaly, Ascites |
ORPHA:79239 |
| Hypercholesterolemia, Familial, 2 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144010 |
| Hyperlysinemia, Type I |
|
Optic nerve hypoplasia |
OMIM:238700 |
| Scimitar Syndrome |
|
Descending aorta hypoplasia, Pulmonary artery hypoplasia, Congestive heart failure, Anomalous ori... |
ORPHA:185 |
| Granulomatous Slack Skin |
|
Hypercalcemia, Abnormal lymph node morphology |
ORPHA:33111 |
| Tyrosinemia, Type I |
|
Hypermethioninemia, Gastrointestinal hemorrhage, Ascites, Hepatocellular carcinoma, Hypophosphate... |
OMIM:276700 |
| Cerebral Visual Impairment |
|
Optic atrophy, Retinopathy of prematurity, Optic disc pallor, Increased cup-to-disc ratio, Optic ... |
ORPHA:447788 |
| Congenital Sialidosis Type 2 |
|
Ascites, Hepatosplenomegaly, Protruding tongue, Hepatomegaly, Edema |
ORPHA:93400 |
| Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy, Colon cancer |
ORPHA:97290 |
| Ppoma |
|
Gastrointestinal hemorrhage, Abnormal abdomen morphology, Increased circulating cortisol level, A... |
ORPHA:97278 |
| Carney Triad |
|
Gastrointestinal hemorrhage, Ascites, Gastrointestinal stroma tumor, Lymphadenopathy, Mediastinal... |
ORPHA:139411 |
| Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Arteriovenous malformation, Venous insufficiency, Congestive heart failure |
ORPHA:137608 |
| Familial Atrial Myxoma |
|
Ascites, Pedal edema |
ORPHA:615 |
| Familial Papillary Or Follicular Thyroid Carcinoma |
|
Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy, Colon cancer |
ORPHA:319487 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Ascites, Hepatosplenomegaly, Hyperbilirubinemia, Splenomegaly, Hypocalcemia, Stillbirth, Hepatome... |
OMIM:259720 |
| Ovarian Fibroma |
|
Ascites, Pleural effusion |
ORPHA:314473 |
| Bresek Syndrome |
|
Aganglionic megacolon, Optic nerve hypoplasia, Microphthalmia |
ORPHA:85284 |
| Intrahepatic Cholestasis Of Pregnancy |
|
Ascites, Hyperbilirubinemia, Increased serum bile acid concentration |
ORPHA:69665 |
| Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Optic nerve hypoplasia |
OMIM:618736 |
| Acrocephalopolydactylous Dysplasia |
|
Polysplenia, Ascites, Hypoplastic colon, Hepatomegaly, Hypoplasia of the small intestine |
OMIM:200995 |
| Mucopolysaccharidosis Type 7 |
|
Ascites, Hydrops fetalis, Splenomegaly, Lymphedema |
ORPHA:584 |
| Granulomatous Disease, Chronic, X-Linked |
|
Lymphadenitis, Ascites, Pleural effusion, Splenomegaly, Lymphadenopathy, Rectal abscess, Hepatome... |
OMIM:306400 |
| Aicardi-Goutieres Syndrome 9 |
|
Hypoalbuminemia, Ascites, Hepatosplenomegaly, Hepatomegaly, Pericardial effusion, Edema |
OMIM:619487 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Hypocholesterolemia, Abetalipoproteinemia, Elevated circulating creatine kinase concentration, De... |
ORPHA:96180 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hematochezia, Gastrointestinal hemorrhage, Ascites, Hyperbilirubinemia, Abnormal gastrointestinal... |
ORPHA:464321 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Optic atrophy, Optic nerve hypoplasia, Retinal detachment, Microphthalmia |
ORPHA:370959 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Optic nerve hypoplasia, Microphthalmia |
OMIM:614833 |
| Gjc2-Related Late-Onset Primary Lymphedema |
|
Abnormal lymphatic vessel morphology, Varicose veins, Hypoplasia of lymphatic vessels, Venous ins... |
ORPHA:568051 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Retinal detachment, Retinal telangiectasia, Optic nerve hypoplasia |
OMIM:620157 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Bilateral microphthalmos, Optic nerve hypoplasia |
OMIM:607597 |
| Short-Rib Thoracic Dysplasia 12 |
|
Hamartoma of tongue, Intestinal malrotation, Ascites, Median cleft palate, Splenomegaly, Polyhydr... |
OMIM:269860 |
| Parkes Weber Syndrome |
|
Arteriovenous malformation, Vascular tortuosity, Venous malformation, Spinal arteriovenous malfor... |
ORPHA:90307 |
| Systemic-Onset Juvenile Idiopathic Arthritis |
|
Pleural effusion, Joint swelling, Splenomegaly, Hepatomegaly, Lymphadenopathy, Elevated circulati... |
ORPHA:85414 |
| Somatostatinoma |
|
Gastrointestinal hemorrhage, Abnormal abdomen morphology, Increased circulating cortisol level, A... |
ORPHA:97283 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Absence of lymph node germinal center, Ascites, Hepatosplenomegaly, Recurrent gastroenteritis, He... |
ORPHA:79124 |
| Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Chylothorax, Lymphedema, Ascites, Pulmonary lymphangiomyomatosis, Ab... |
ORPHA:538 |
| Primary Hepatic Neuroendocrine Carcinoma |
|
Hepatomegaly, Neoplasm of the liver, Chronic noninfectious lymphadenopathy, Ascites |
ORPHA:100085 |
| Microphthalmia, Syndromic 5 |
|
Optic nerve hypoplasia, Anophthalmia, Retinal dystrophy, Microphthalmia |
OMIM:610125 |
| Lissencephaly Due To Tuba1A Mutation |
|
Aganglionic megacolon, Optic nerve hypoplasia |
ORPHA:171680 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Hypoalbuminemia, Hypocholesterolemia, Villous atrophy, Nonimmune hydrops fetalis, Hepatomegaly, P... |
OMIM:212065 |
| Vipoma |
|
Abnormal abdomen morphology, Increased circulating cortisol level, Abnormal gastrointestinal moti... |
ORPHA:97282 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Arterial dissection, Abnormal venous morphology, Aortic dissection, Congestive heart failure, Art... |
ORPHA:1900 |
| Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Splenomegaly, Ascites, Acholic stools |
OMIM:617394 |
| Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
|
Vascular granular osmiophilic material deposition, Nonarteritic anterior ischemic optic neuropath... |
OMIM:125310 |
| Abetalipoproteinemia |
|
Hypoalbuminemia, Hypotriglyceridemia, Elevated circulating hepatic transaminase concentration, Hy... |
ORPHA:14 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypoalbuminemia, Hypermethioninemia, Ascites, Hyperbilirubinemia, Hypertyrosinemia, Polyhydramnio... |
OMIM:617156 |
| Farber Disease |
|
Ascites, Hepatosplenomegaly, Joint swelling, Lymphadenopathy, Hydrops fetalis |
ORPHA:333 |
| Nabais Sa-De Vries Syndrome, Type 1 |
|
Optic nerve hypoplasia |
OMIM:618828 |
| Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome |
|
Optic nerve hypoplasia |
OMIM:618381 |
| Gallbladder Neuroendocrine Tumor |
|
Ascites, Biliary tract neoplasm, Chronic noninfectious lymphadenopathy |
ORPHA:100086 |
| Pseudo-Torch Syndrome 2 |
|
Hepatomegaly, Pleural effusion, Ascites |
OMIM:617397 |
| Kaposi Sarcoma |
|
Abnormal retinal morphology, Venous insufficiency |
ORPHA:33276 |
| Glucagonoma |
|
Gastrointestinal hemorrhage, Abnormal abdomen morphology, Increased circulating cortisol level, A... |
ORPHA:97280 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Protein-losing enteropathy, Gastrointestinal hemorrhage, Ascites, Hepatosplenomegaly, Hyperspleni... |
ORPHA:731 |
| Meige Disease |
|
Facial edema, Predominantly lower limb lymphedema, Absence of lymph node germinal center, Lymphed... |
ORPHA:90186 |
| Primary Sclerosing Cholangitis |
|
Hypoalbuminemia, Ascites, Hepatosplenomegaly, Pleural effusion, Splenomegaly, Cholangiocarcinoma,... |
ORPHA:171 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Gastrointestinal hemorrhage, Gastroesophageal reflux, Abnormal lymph node morphology, Elevated ci... |
ORPHA:85450 |
| Ovarian Fibrothecoma |
|
Ascites, Pleural effusion |
ORPHA:314478 |
| Alg12-Cdg |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hypocholesterolemia, Ab... |
ORPHA:79324 |
| Wilson Disease |
|
Hypouricemia, Hypoalbuminemia, Pedal edema, Edema, Ascites, Hyperbilirubinemia, Splenomegaly, Inc... |
OMIM:277900 |
| Fumarase Deficiency |
|
Ascites, Hyperbilirubinemia, Polyhydramnios, High palate, Necrotizing enterocolitis |
OMIM:606812 |
| Aorta Coarctation |
|
Congestive heart failure, Tetralogy of Fallot, Coronary artery atherosclerosis, Stroke, Persisten... |
ORPHA:1457 |
| Tempi Syndrome |
|
Ascites, Transudative pleural effusion |
ORPHA:284227 |
| Erythrocytosis, Familial, 2 |
|
Hypotension, Cerebral hemorrhage, Stroke, Pulmonary arterial hypertension, Varicose veins |
OMIM:263400 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short uvula, Ascites, High palate, Hydrops fetalis, Cleft palate |
OMIM:614091 |
| Senior-Boichis Syndrome |
|
Ascites, Hepatosplenomegaly, Esophageal varix, Increased total bilirubin |
ORPHA:84081 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Atrioventricular block, Complete heart block with narrow QRS complexes, Holosystolic murmur, Paro... |
ORPHA:1677 |
| Necrotizing Enterocolitis |
|
Hyponatremia, Edema, Ascites |
ORPHA:391673 |
| Peripheral Primitive Neuroectodermal Tumor |
|
Ascites, Elevated carcinoma antigen 125 level, Pelvic mass, Elevated circulating alpha-fetoprotei... |
ORPHA:370348 |
| Ovarian Hyperstimulation Syndrome |
|
Generalized edema, Ascites, Peripheral edema, Pleural effusion, Pulmonary edema |
ORPHA:64739 |
| Trichothiodystrophy 5, Nonphotosensitive |
|
Retinal dystrophy, Optic nerve hypoplasia |
OMIM:300953 |
| Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Optic nerve hypoplasia |
ORPHA:572013 |
| Long-Olsen-Distelmaier Syndrome |
|
Microspherophakia, Optic nerve hypoplasia |
OMIM:620609 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Pulmonary hemorrhage, Nasal mucosa telangiectasia, High-output congestive heart failure, Gastroin... |
OMIM:187300 |
| Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Decreased circulating plasmalogen concentration, Optic nerve hypoplasia |
OMIM:222765 |
| Adams-Oliver Syndrome |
|
Ascites, Gastrointestinal hemorrhage, Esophageal varix |
ORPHA:974 |
| Von Willebrand Disease |
|
Epistaxis, Gastrointestinal hemorrhage, Gastrointestinal angiodysplasia, Muscle hemorrhage, Venou... |
ORPHA:903 |
| Tatton-Brown-Rahman Syndrome |
|
Optic nerve hypoplasia |
OMIM:615879 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Gastroesophageal reflux, Ascites, Hypoplasia of the thymus, Periorbital edema, ... |
OMIM:613177 |
| Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Optic nerve hypoplasia |
ORPHA:363686 |
| Aniridia 1 |
|
Chorioretinal hypopigmentation, Retinal vascular tortuosity, Hypoplasia of the iris, Aniridia, Hy... |
OMIM:106210 |
| Perlman Syndrome |
|
Distal ileal atresia, Visceromegaly, Volvulus, Ascites, Polyhydramnios, Edema |
OMIM:267000 |
| Cardiofaciocutaneous Syndrome 4 |
|
Optic nerve hypoplasia |
OMIM:615280 |
| Castleman Disease |
|
Anasarca, Follicular hyperplasia, Intestinal obstruction, Abdominal mass, Abnormality of the gast... |
ORPHA:160 |
| Verheij Syndrome |
|
Optic nerve hypoplasia |
OMIM:615583 |
| Familial Mediterranean Fever |
|
Oral leukoplakia, Ascites, Gastrointestinal infarctions, Splenomegaly, Intestinal obstruction, Ly... |
ORPHA:342 |
| Spastic Paraplegia 54, Autosomal Recessive |
|
Optic nerve hypoplasia |
OMIM:615033 |
| Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Ascites |
ORPHA:2848 |
| Milroy Disease |
|
Abnormal venous morphology, Varicose veins |
ORPHA:79452 |
| Phace Association |
|
Optic atrophy, Increased retinal vascularity, Horner syndrome, Microphthalmia, Optic nerve hypopl... |
OMIM:606519 |
| Truncus Arteriosus |
|
Aortic regurgitation, Interrupted aortic arch, Pulmonary artery hypoplasia, Arteria lusoria, Pulm... |
ORPHA:3384 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Optic nerve hypoplasia, Microphthalmia |
OMIM:617914 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Hypoalbuminemia, Gastroesophageal reflux, Anasarca, Intestinal malrotation, Ascites, Oligohydramn... |
OMIM:613658 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Pulmonary edema, Hepatomegaly, Pericardial effusion, Ascites |
OMIM:115197 |
| Congenital Myopathy 22B, Severe Fetal |
|
Ascites, Pleural effusion, Polyhydramnios, Nonimmune hydrops fetalis, Hepatomegaly, High palate |
OMIM:620369 |
| Lymphatic Malformation 12 |
|
Fetal ascites, Lymphedema, Nonimmune hydrops fetalis, Neonatal death, Polyhydramnios |
OMIM:620014 |
| Fanconi Anemia, Complementation Group I |
|
Optic nerve hypoplasia, Microphthalmia |
OMIM:609053 |
| Septo-Optic Dysplasia Spectrum |
|
Septo-optic dysplasia, Optic nerve hypoplasia |
ORPHA:3157 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Ascites, Stomach cancer, Intestinal polyposis, Increased nuchal translucency, Polyhydramnios, Duo... |
ORPHA:1052 |
| Xfe Progeroid Syndrome |
|
Hypoalbuminemia, Ascites |
OMIM:610965 |
| Fraser Syndrome 3 |
|
Ascites, Oligohydramnios, Nonimmune hydrops fetalis, Stillbirth |
OMIM:617667 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Optic nerve hypoplasia |
OMIM:301056 |
| Livedoid Vasculopathy |
|
Ischemic stroke, Venous insufficiency, Telangiectasia of the skin, Varicose veins, Abnormal capil... |
ORPHA:542643 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Anasarca, Ascites, Peripheral edema, Pleural effusion, Pulmonary edema, Pericardial effusion, Mac... |
OMIM:261740 |
| Enlarged Parietal Foramina |
|
Venous malformation, Abnormal cerebral vein morphology |
ORPHA:60015 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Heart murmur, Abnormal vena cava morphology, Rod-cone dystrophy, Retinal degeneration |
ORPHA:166035 |
| Kaufman Oculocerebrofacial Syndrome |
|
Hypocholesterolemia |
OMIM:244450 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Decreased number of large peripheral myelinated nerve fibers, Decreased nerve conduction velocity... |
ORPHA:101085 |
| Rabin-Pappas Syndrome |
|
Retinal detachment, Retinal telangiectasia, Optic nerve hypoplasia |
OMIM:620155 |
| Chromosome 2P16.1-P15 Deletion Syndrome |
|
Optic nerve hypoplasia |
OMIM:612513 |
| D-Glyceric Aciduria |
|
Optic nerve hypoplasia |
OMIM:220120 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Abnormal lymph node morphology |
OMIM:612840 |
| Cardiac Diverticulum |
|
Aortic valve stenosis, Premature ventricular contraction, Arrhythmia, Ventricular fibrillation, P... |
ORPHA:1686 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated circulating C-reactive protein concentration, Abnormality of the lymphatic system, Abnor... |
ORPHA:54251 |
| 2P15P16.1 Microdeletion Syndrome |
|
Optic atrophy, Facial palsy, Optic nerve hypoplasia |
ORPHA:261349 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Retinal detachment, Remnants of the hyaloid vascular system, Microphthalmia, Retinal dysplasia, O... |
OMIM:614643 |
| Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Optic nerve hypoplasia |
OMIM:617864 |
| Renal Nutcracker Syndrome |
|
Dilatation of mesenteric artery, Renal artery stenosis, Vulval varicose vein, Syncope, Orthostati... |
ORPHA:71273 |
| Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Optic disc pallor, Optic nerve hypoplasia, Retinal coloboma |
OMIM:300749 |
| 19P13.13 Microdeletion Syndrome |
|
Optic atrophy, Optic nerve hypoplasia |
ORPHA:357001 |
| Functioning Gonadotropic Adenoma |
|
Ascites |
ORPHA:91348 |
| Absence Of The Pulmonary Artery |
|
Atrial flutter, Abnormal coronary artery morphology, Congestive heart failure, Abnormal EKG, Redu... |
ORPHA:980 |
| Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth |
|
Venous malformation, Varicose veins |
OMIM:613089 |
| White-Sutton Syndrome |
|
Rod-cone dystrophy, Optic nerve hypoplasia |
OMIM:616364 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Abnormal autonomic nervous system physiology, Optic nerve hypoplasia |
ORPHA:300570 |
| Thoracic Outlet Syndrome |
|
Varicose veins |
ORPHA:97330 |
| Varicose Veins |
|
Varicose veins |
OMIM:192200 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Total anomalous pulmonary venous return, Bilateral superior vena cava, Dextrotransposition of the... |
OMIM:613751 |
| Lymphedema-Distichiasis Syndrome |
|
Conjunctivitis, Arrhythmia, Patent ductus arteriosus, Varicose veins |
ORPHA:33001 |
| Lymphatic Malformation 13 |
|
Ascites, Lymphedema, Nonimmune hydrops fetalis, Neonatal death |
OMIM:620244 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Hepatomegaly, Splenomegaly, Ascites |
OMIM:301072 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Abnormal cerebral vascular morphology, Telangiectasia of the skin, Abnormal venous morphology |
ORPHA:276280 |
| Fg Syndrome Type 1 |
|
Optic nerve hypoplasia |
ORPHA:93932 |
| Dubowitz Syndrome |
|
Hypocholesterolemia |
OMIM:223370 |
| Autosomal Dominant Spastic Paraplegia Type 10 |
|
Rod-cone dystrophy, Varicose veins |
ORPHA:100991 |
| Proteus-Like Syndrome |
|
Retinal detachment, Venous insufficiency |
ORPHA:2969 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hypoalbuminemia, Generalized edema, Gastroesophageal reflux, Edema, Increased circulating ferriti... |
OMIM:619534 |
| Familial Cerebral Cavernous Malformation |
|
Choroidal hemangioma, Venous malformation, Retinal cavernous hemangioma, Cerebral hemorrhage |
ORPHA:221061 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Optic atrophy, Retinal atrophy, Retinal detachment, Microphthalmia, Retinal dysplasia, Optic nerv... |
OMIM:236670 |
| Liver Disease, Severe Congenital |
|
Protein-losing enteropathy, Increased circulating ferritin concentration, Ascites, Chronic gastri... |
OMIM:619991 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphadenitis, Abnormal lymph node morphology, Hepatosplenomegaly, Recurrent infection of the gas... |
ORPHA:911 |
| Crimean-Congo Hemorrhagic Fever |
|
Parotitis, Ascites, Splenomegaly, Elevated circulating creatine kinase concentration, Hematemesis... |
ORPHA:99827 |
| Loeys-Dietz Syndrome 6 |
|
Vertebral artery aneurysm, Arterial tortuosity, Dilatation of the cerebral artery, Transient isch... |
OMIM:619656 |
| Primary Ciliary Dyskinesia |
|
Abnormal inferior vena cava morphology, Persistent left superior vena cava, Transposition of the ... |
ORPHA:244 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Optic disc hypoplasia, Optic nerve hypoplasia |
ORPHA:79345 |
| 16Q24.3 Microdeletion Syndrome |
|
Optic nerve hypoplasia |
ORPHA:261250 |
| Thymic Carcinoma |
|
Abnormal vena cava morphology |
ORPHA:99868 |
| Smith-Lemli-Opitz Syndrome |
|
Hypoalbuminemia, Bifid uvula, Gastroesophageal reflux, Microglossia, Intestinal malrotation, Hypo... |
OMIM:270400 |
| Meacham Syndrome |
|
Tetralogy of Fallot, Scimitar anomaly, Right aortic arch, Neonatal death, Persistent left superio... |
OMIM:608978 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Hepatomegaly, Ascites, Hepatocellular carcinoma |
OMIM:256810 |
| Immunodeficiency 22 |
|
Ascites |
OMIM:615758 |
| Liposarcoma |
|
Varicose veins |
ORPHA:69078 |
| Lymphedema-Distichiasis Syndrome |
|
Tetralogy of Fallot, Arrhythmia, Varicose veins, Conjunctivitis, Patent ductus arteriosus |
OMIM:153400 |
| Stromme Syndrome |
|
Optic nerve hypoplasia, Retinal vascular tortuosity, Microphthalmia |
OMIM:243605 |
| Craniosynostosis 4 |
|
Optic nerve hypoplasia |
OMIM:600775 |
| Niemann-Pick Disease Type C |
|
Fetal ascites, Ascites, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Hydrops fetalis, Dysphagia |
ORPHA:646 |
| Chronic Graft Versus Host Disease |
|
Gastroesophageal reflux, Xerostomia, Ascites, Abnormal esophagus physiology, Pleural effusion, Ab... |
ORPHA:99921 |
| Johanson-Blizzard Syndrome |
|
Generalized edema, Colonic diverticula, Anasarca, Anteriorly placed anus, Ascites, Hypocalcemia, ... |
OMIM:243800 |
| Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Optic nerve hypoplasia |
OMIM:620029 |
| Asparagine Synthetase Deficiency |
|
Optic nerve hypoplasia |
OMIM:615574 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Optic nerve hypoplasia |
ORPHA:221139 |
| Foix-Alajouanine Syndrome |
|
Venous malformation, Arteriovenous fistula |
ORPHA:79093 |
| Loeys-Dietz Syndrome 4 |
|
Aortic root aneurysm, Aortic dissection, Arterial tortuosity, Dilatation of the cerebral artery, ... |
OMIM:614816 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Optic disc pallor, Attenuation of retinal blood vessels, Bilateral microphthalmos, Optic nerve hy... |
ORPHA:468631 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Retinal coloboma, Abnormal optic disc morphology, Microphthalmia, Facial palsy, Optic nerve hypop... |
ORPHA:508498 |
| Adenocarcinoma Of The Anal Canal |
|
Anal stenosis, Intestinal bleeding, Neoplasm of the liver, Neoplasm of the rectum, Anal canal ade... |
ORPHA:424016 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Hepatomegaly, Anasarca, Ascites |
OMIM:203700 |
| Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Aortic dissection, Vascular dilatation, Pulmonic stenosis, Varicose veins |
OMIM:618343 |
| Eisenmenger Syndrome |
|
Generalized edema, Abnormal circulating B-type natriuretic peptide concentration, Ascites, Periph... |
ORPHA:97214 |
| Thymic Neuroendocrine Tumor |
|
Abnormal vena cava morphology, Prominent veins on trunk |
ORPHA:97289 |
| Menkes Disease |
|
Gastrointestinal hemorrhage, Arterial stenosis, Venous insufficiency, Vascular dilatation, Intrac... |
ORPHA:565 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Optic nerve hypoplasia |
OMIM:617506 |
| Kikuchi-Fujimoto Disease |
|
Abnormal lymph node morphology, Cervical lymphadenopathy, Enlargement of parotid gland, Splenomeg... |
ORPHA:50918 |
| Clapo Syndrome |
|
Venous malformation, Varicose veins |
ORPHA:168984 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Optic disc coloboma, Optic nerve hypoplasia |
ORPHA:536471 |
| Congenital Fibrosis Of Extraocular Muscles |
|
Optic nerve hypoplasia |
ORPHA:45358 |
| Tropical Endomyocardial Fibrosis |
|
Hypoalbuminemia, Ascites, Peripheral edema, Splenomegaly, Hepatomegaly, Pedal edema |
ORPHA:75565 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Facial telangiectasia, Pulmonary arterial hypertension, Left superior vena cava draining to coron... |
OMIM:602782 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Mitral stenosis, Pulmonary arterial hy... |
ORPHA:163956 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Optic atrophy, Septo-optic dysplasia, Microphthalmia |
ORPHA:3301 |
| Marshall-Smith Syndrome |
|
Optic nerve hypoplasia |
OMIM:602535 |
| Cerebrooculonasal Syndrome |
|
Anophthalmia, Optic nerve hypoplasia |
OMIM:605627 |
| Glomuvenous Malformation |
|
Venous malformation, Arteriovenous malformation, Gastrointestinal arteriovenous malformation |
ORPHA:83454 |
| Atresia Of Urethra |
|
Ascites, Oligohydramnios |
ORPHA:105 |
| Hydranencephaly |
|
Chorioretinal atrophy, Optic nerve hypoplasia |
ORPHA:2177 |
| Atrial Septal Defect 1 |
|
Aortic valve stenosis, Second degree atrioventricular block, Tetralogy of Fallot with pulmonary a... |
OMIM:108800 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Abnormal optic nerve morphology, Optic nerve hypoplasia |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Abnormal optic nerve morphology, Optic nerve hypoplasia |
ORPHA:352665 |
| Congenital Tracheal Stenosis |
|
Fetal ascites, Meckel diverticulum, Duodenal stenosis, Abnormal stomach morphology, Oligohydramni... |
ORPHA:141127 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Mitral regurgitation, Pulmonary arterial hypertension, Prominent superficial veins, Varicose vein... |
OMIM:612541 |
| Cutis Marmorata Telangiectatica Congenita |
|
Ascites |
ORPHA:1556 |
| H Syndrome |
|
Abnormal cardiovascular system physiology, Facial telangiectasia, Varicose veins |
ORPHA:168569 |
| Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Optic nerve hypoplasia |
OMIM:301043 |
| Phace Syndrome |
|
Retinal vascular malformation, Lens coloboma, Optic nerve hypoplasia, Microphthalmia |
ORPHA:42775 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Aortic root aneurysm, Prominent veins on trunk, Carotid artery stenosis, Keratoconjunctivitis sic... |
ORPHA:536532 |
| Rhombencephalosynapsis |
|
Aganglionic megacolon, Septo-optic dysplasia |
ORPHA:59315 |
| Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Varicose veins |
OMIM:314300 |
| Pancreatic And Cerebellar Agenesis |
|
Optic nerve hypoplasia |
OMIM:609069 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Optic atrophy, Retinal dystrophy, Optic nerve hypoplasia |
OMIM:619321 |
| Proboscis Lateralis |
|
Optic disc coloboma, Chorioretinal coloboma, Anophthalmia, Microphthalmia, Optic nerve hypoplasia |
ORPHA:141099 |
| Pituitary Stalk Interruption Syndrome |
|
Septo-optic dysplasia |
ORPHA:95496 |
| Loeys-Dietz Syndrome 3 |
|
Aortic regurgitation, Aortic dissection, Arterial tortuosity, Tortuous cerebral arteries, Dilatat... |
OMIM:613795 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Optic nerve hypoplasia |
ORPHA:457284 |
| 22Q11.2 Deletion Syndrome |
|
Hypertensive crisis, Gastrointestinal hemorrhage, Optic atrophy, Abnormal aortic arch morphology,... |
ORPHA:567 |
| Gitelman Syndrome |
|
Prominent U wave, Abnormal T-wave, Palpitations, ST segment depression, Syncope, Raynaud phenomen... |
ORPHA:358 |
| Generalized Arterial Calcification Of Infancy |
|
Ascites, Hypophosphatemic rickets, Polyhydramnios, Hydrops fetalis, Pericardial effusion, Edema |
ORPHA:51608 |
| Acromelic Frontonasal Dysostosis |
|
Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:603671 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Optic nerve hypoplasia |
ORPHA:226307 |
| Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Venous malformation |
OMIM:612918 |
| Norrie Disease |
|
Optic atrophy, Venous insufficiency, Abnormal vitreous humor morphology, Abnormal retinal vascula... |
ORPHA:649 |
| Microphthalmia With Limb Anomalies |
|
Optic atrophy, Venous insufficiency |
ORPHA:1106 |
| Holoprosencephaly 9 |
|
Optic nerve hypoplasia, Anophthalmia, Microphthalmia |
OMIM:610829 |
| 8Q24.3 Microdeletion Syndrome |
|
Retinal coloboma, Bilateral microphthalmos, Optic nerve hypoplasia |
ORPHA:508488 |
| Thauvin-Robinet-Faivre Syndrome |
|
Varicose veins, Retinal coloboma |
OMIM:617107 |
| Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Optic nerve hypoplasia |
OMIM:620025 |
| Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Optic nerve hypoplasia |
ORPHA:495875 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Arterial dissection, Epistaxis, Aortic root aneurysm, Venous insufficiency, Arrhythmia, Keratocon... |
ORPHA:285 |
| Baller-Gerold Syndrome |
|
Optic atrophy, Optic nerve hypoplasia |
OMIM:218600 |
| Proteus Syndrome |
|
Retinal nonattachment, Pulmonary embolism, Arteriovenous malformation, Chorioretinal coloboma, Ve... |
ORPHA:744 |
| Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures |
|
Optic nerve hypoplasia |
OMIM:620455 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Optic atrophy, Optic nerve hypoplasia |
ORPHA:500150 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Septo-optic dysplasia, Optic nerve hypoplasia |
ORPHA:95494 |
| Occipital Horn Syndrome |
|
Vascular dilatation, Venous insufficiency |
ORPHA:198 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Calcification of the aorta, Spontaneous, recurrent epistaxis, Papilledema, Pulmonary arterial hyp... |
ORPHA:2072 |
| Vascular Ehlers-Danlos Syndrome |
|
Arterial dissection, Pulmonary artery aneurysm, Arteriovenous fistulas of celiac and mesenteric v... |
ORPHA:286 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Optic nerve hypoplasia |
OMIM:620330 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Varicose veins, Retinal coloboma |
ORPHA:500095 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Diffuse alveolar hemorrhage, Dilatation of the cerebral artery, Arterial rupture, Hemothorax, Des... |
OMIM:130050 |
| Pancreatoblastoma |
|
Abnormal lymph node morphology |
ORPHA:677 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Malignant gastrointestinal tract tumors, Neoplasm of the stomach, Increased circulating cortisol ... |
ORPHA:99889 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Septo-optic dysplasia |
OMIM:619841 |
