Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... |
OMIM:165550 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
Leber Hereditary Optic Neuropathy, Modifier Of |
|
Optic atrophy, Leber optic atrophy |
OMIM:308905 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... |
ORPHA:411527 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c... |
OMIM:120200 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
Eales Disease |
|
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Tran... |
ORPHA:40923 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... |
OMIM:193235 |
Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... |
OMIM:133780 |
Pancreatic Lipase Deficiency |
|
Hypocholesterolemia, Steatorrhea |
OMIM:614338 |
Secondary Intestinal Lymphangiectasia |
|
Intestinal obstruction, Intestinal lymphedema, Increased stool alpha1-antitrypsin concentration, ... |
ORPHA:90363 |
Alpha-Heavy Chain Disease |
|
Abnormal small intestine morphology, Hepatomegaly, Malabsorption, Splenomegaly, Lymphadenopathy, ... |
ORPHA:100025 |
Atherosclerosis Susceptibility |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:108725 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating aspartate ami... |
OMIM:615558 |
Lymphangiectasia, Pulmonary, Congenital |
|
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... |
OMIM:265300 |
Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... |
OMIM:193220 |
Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia |
OMIM:232700 |
Venous Malformations, Multiple Cutaneous And Mucosal |
|
Intestinal bleeding, Venous malformation |
OMIM:600195 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... |
OMIM:616829 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal large intestine morphology, Esophageal neopla... |
ORPHA:2198 |
Focal Segmental Glomerulosclerosis 1 |
|
Edema, Hyperlipidemia, Hypoalbuminemia, Pleural effusion, Ascites |
OMIM:603278 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
Chylomicron Retention Disease |
|
Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocholesterolemia, Hypot... |
OMIM:246700 |
Fish-Eye Disease |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:136120 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Microphthalmia, Isolated 8 |
|
Retinal detachment, Anophthalmia, Optic nerve hypoplasia, Hypoplastic optic chiasm, Retinal colob... |
OMIM:615113 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypersplenism, Splenomegaly, Hepatomegaly, Hypocholesterolemia |
OMIM:610539 |
Pseudomyxoma Peritonei |
|
Intestinal obstruction, Ascites, Lymphadenopathy, Inflammation of the large intestine |
ORPHA:26790 |
Wolman Disease |
|
Hepatomegaly, Splenomegaly, Esophageal varix, Steatorrhea, Ascites |
ORPHA:75233 |
Ascites, Chylous |
|
Chylous ascites |
OMIM:208300 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Optic nerve hypoplasia |
ORPHA:1068 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Conjugated hyperbilirubinemia, Intrahepatic ... |
OMIM:607765 |
Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Elevated circulating C-reactive protein concentration,... |
ORPHA:2070 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Retinal cotton wool spot, Gastrointestinal hemorrhage, Raynaud phenomenon, Abnormal retinal vascu... |
ORPHA:247691 |
Chylous Ascites |
|
Ascites, Abnormal intestine morphology, Lymphedema |
ORPHA:1160 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
Hydrops Fetalis |
|
Abnormality of the gastrointestinal tract, Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema,... |
ORPHA:1041 |
Splenoportal Vascular Anomalies |
|
Splenomegaly, Ascites, Hyperammonemia |
OMIM:271500 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol... |
OMIM:616834 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbilirubinemia, Jau... |
OMIM:619868 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Retinal neovascularization |
OMIM:619074 |
Congenital Pulmonary Lymphangiectasia |
|
Hepatomegaly, Splenomegaly, Hydrops fetalis, Chylopericardium, Gastroesophageal reflux, Pleural e... |
ORPHA:2414 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hydrops fetalis, High palate, Ascites |
OMIM:269920 |
Bornholm Eye Disease |
|
Abnormality of retinal pigmentation, Optic nerve hypoplasia |
OMIM:300843 |
Hepatic Veno-Occlusive Disease |
|
Hepatomegaly, Ascites, Increased total bilirubin |
ORPHA:890 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Splenomegaly, Ascites, Polyhydramnios, Oligohydramnios |
ORPHA:1046 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Intestinal obstruction, Edema, Malabsorption, Abnormal intestine morphology, Hypoal... |
OMIM:226300 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Ascites, Increased total bilirubin |
OMIM:174050 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hypertriglyceridemia, Edema, Splenomegaly, Increased circulating ferritin concentra... |
OMIM:603552 |
Fetal Parvovirus Syndrome |
|
Increased nuchal translucency, Ascites, Hydrops fetalis |
ORPHA:295 |
Griscelli Syndrome |
|
Hepatomegaly, Splenomegaly, Pyloric stenosis, Pedal edema, Lymphadenopathy, Ascites, Bone marrow ... |
ORPHA:381 |
Microphthalmia, Syndromic 3 |
|
Microphthalmia, Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia |
OMIM:206900 |
Primary Intestinal Lymphangiectasia |
|
Increased stool alpha1-antitrypsin concentration, Edema, Pericardial effusion, Functional abnorma... |
ORPHA:90362 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg... |
OMIM:613101 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Ascites, Lymphadenopathy |
ORPHA:858 |
Sialidosis Type 2 |
|
Hepatomegaly, Splenomegaly, Hydrops fetalis, Pedal edema, Ascites |
ORPHA:87876 |
Joubert Syndrome 40 |
|
Optic nerve hypoplasia |
OMIM:619582 |
Nephrosialidosis |
|
Pericardial effusion, Ascites |
OMIM:256150 |
Glycogen Storage Disease Iv |
|
Polyhydramnios, Edema, Esophageal varix, Hydrops fetalis, Hepatosplenomegaly, Ascites |
OMIM:232500 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:218670 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Polyhydramnios, Pericardial effusion, Hematochezia, Anasarca,... |
OMIM:618183 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Hepatomegaly, Fetal ascites, Polyhydramnios, Splenomegaly, Hydrops fetalis |
OMIM:619462 |
Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Hypercalcemia, Polyhydramnios, Hydrops fetalis, Ascites |
ORPHA:2123 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Splenomegaly, Esophageal varix, Hepatocellular carcinoma, Ascites |
OMIM:619463 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Chylomicron Retention Disease |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia |
ORPHA:71 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Malabsorption, Splenomegaly, Increased serum bile acid concentration, Ascites |
OMIM:602347 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Edema, Elevated circulating creatinine concentration, Protein-losing enteropathy, H... |
OMIM:608104 |
Desmoplastic Small Round Cell Tumor |
|
Hepatomegaly, Mediastinal lymphadenopathy, Ileus, Lymphadenopathy, Ascites |
ORPHA:83469 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Predominantly lower limb lymphedema, Palpebral edema, Abnormality of the lymphatic system, Hydrop... |
ORPHA:69735 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Hyperammonemia, Hyperalaninemia, Pleural effusion, Ascites, Oligohydramnios |
OMIM:614702 |
14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Anophthalmia |
ORPHA:264200 |
Glycogen Storage Disease Ixa1 |
|
Elevated hepatic transaminase, Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia |
OMIM:306000 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Increased serum iron, H... |
OMIM:235200 |
Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Malabsorption, Splenomegaly, E... |
ORPHA:131 |
Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Hypersplenism, Splenomegaly, Esophageal varix, Hypoalbuminemia, Gast... |
ORPHA:64743 |
Septooptic Dysplasia |
|
Optic disc hypoplasia, Optic nerve hypoplasia |
OMIM:182230 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Venous insufficiency, Retinopathy, Abnormal cerebral vascular morphology, Pulmonary embolism |
ORPHA:743 |
Ovarian Hyperstimulation Syndrome |
|
Ascites |
OMIM:608115 |
Mitchell-Riley Syndrome |
|
Jejunal atresia, Intestinal malrotation, Malabsorption, Anteriorly placed anus, Ascites, Acholic ... |
OMIM:615710 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Ascites |
OMIM:615122 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Polyhydramnios, Thyroid lymphangiectasia, Lymphedema, Splenomegaly, Pancreatic lymp... |
OMIM:235255 |
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 |
|
Genital edema, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Splenomegaly, Polyhydr... |
OMIM:616843 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circula... |
OMIM:605814 |
Peroxisome Biogenesis Disorder 3B |
|
Hepatomegaly, Elevated circulating phytanic acid concentration, Hypocholesterolemia, Steatorrhea |
OMIM:266510 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Esophageal varix, Hepatosplenomegaly, Hy... |
ORPHA:367 |
Free Sialic Acid Storage Disease |
|
Splenomegaly, Ascites, Hydrops fetalis, Hepatomegaly |
ORPHA:834 |
Congenital Disorder Of Glycosylation, Type Il |
|
Hepatomegaly, Edema, Pericardial effusion, Hepatosplenomegaly, Ascites |
OMIM:608776 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Hepatomegaly, Ascites, Hydrops fetalis |
OMIM:619433 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Hepatomegaly, Ascites |
OMIM:301045 |
Congenital Heart Defects, Multiple Types, 3 |
|
Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric... |
OMIM:614954 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Palpebral edema, Edema, Facial edema, Hyperlipidemia, Pedal edema, Anasarca, Hypoalbuminemia, Ple... |
ORPHA:567546 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
Squalene Synthase Deficiency |
|
Increased circulating farnesol concentration, Hypocholesterolemia, Decreased LDL cholesterol conc... |
OMIM:618156 |
Neuraminidase Deficiency |
|
Hepatomegaly, Facial edema, Splenomegaly, Hydrops fetalis, Ascites |
OMIM:256550 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Septo-optic dysplasia, Optic atrophy |
ORPHA:1528 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Malabsorption, Hypersplenism, Hepatosplenomegaly, Lymphadenopathy, A... |
ORPHA:98850 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Microphthalmia, Retinal detachment, Optic nerve hypoplasia |
OMIM:615181 |
Niemann-Pick Disease, Type A |
|
Hepatomegaly, Splenomegaly, Ascites, Lymphadenopathy |
OMIM:257200 |
Potocki-Lupski Syndrome |
|
Hypocholesterolemia |
OMIM:610883 |
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Venous insufficiency, Abnormal cerebral vascular morphology, Pulmonary embolism |
ORPHA:745 |
Malignant Peritoneal Mesothelioma |
|
Ascites, Ileus, Pedal edema |
ORPHA:168811 |
Chromosome 19P13.13 Deletion Syndrome |
|
Optic atrophy, Optic nerve hypoplasia |
OMIM:613638 |
Hypocomplementemic Urticarial Vasculitis |
|
Hepatomegaly, Pericardial effusion, Splenomegaly, Angioedema, Lymphadenopathy, Pleural effusion, ... |
ORPHA:36412 |
Gracile Bone Dysplasia |
|
Asplenia, Hypocalcemia, Hypoplastic spleen, Ascites, Ankyloglossia |
OMIM:602361 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Neonatal death, Hepatomegaly, Polyhydramnios, Hypocholesterolemia |
OMIM:618810 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Polyhydramnios, Splenomegaly, Pancreatic lymphangiectasis, Pulmonary lymphangiectas... |
ORPHA:1655 |
Combined Oxidative Phosphorylation Deficiency 5 |
|
Ascites, Hyperammonemia, Edema |
OMIM:611719 |
Immunodeficiency 87 And Autoimmunity |
|
Hepatomegaly, Atrophic gastritis, Necrotizing enterocolitis, Villous atrophy, Hypertriglyceridemi... |
OMIM:619573 |
X-Linked Intellectual Disability, Najm Type |
|
Optic atrophy, Optic nerve hypoplasia, Chorioretinal coloboma |
ORPHA:163937 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
Mulibrey Nanism |
|
Hepatomegaly, Microglossia, Ascites, Hydrops fetalis |
OMIM:253250 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Varicose veins, Patent ductus arteriosus, Peripheral arterial stenosis, Sinus bradycardia |
OMIM:126320 |
Alg8-Cdg |
|
Abnormality of the gastrointestinal tract, Hyponatremia, Edema, Hydrops fetalis, Macroglossia, As... |
ORPHA:79325 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Nonimmune hydrops fetalis, Elevated circulating alpha-fetoprotein concentration, Conjugated hyper... |
OMIM:617049 |
Cognitive Impairment With Or Without Cerebellar Ataxia |
|
Optic nerve hypoplasia |
OMIM:614306 |
Burkitt Lymphoma |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Abnormality of the spleen, Abnormal lymph no... |
ORPHA:543 |
Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Splenomegaly, Ulcerative colitis, Inflammation of the large intestin... |
ORPHA:2137 |
Angioosteohypotrophic Syndrome |
|
Prominent superficial veins, Telangiectasia of the skin, Venous malformation |
ORPHA:75508 |
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Aplasia/Hypoplasia of the optic nerve, Optic nerve hypoplasia |
ORPHA:137634 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Hypersplenism, Esophageal varix, Hyperkalemia, Dehydration, H... |
ORPHA:275761 |
Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... |
OMIM:207750 |
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Optic nerve hypoplasia |
OMIM:618890 |
Tangier Disease |
|
Orange discolored tonsils, Hypertriglyceridemia, Chronic noninfectious lymphadenopathy, Hepatospl... |
ORPHA:31150 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Pulmonary embolism, Venous insuffi... |
ORPHA:90308 |
Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:144010 |
Pediatric Systemic Lupus Erythematosus |
|
Abnormality of the gastrointestinal tract, Edema, Pericardial effusion, Lymphadenopathy, Pleural ... |
ORPHA:93552 |
Hennekam Syndrome |
|
Malabsorption, Lymphedema, Pyloric stenosis, Splenomegaly, Pericardial effusion, Pulmonary lympha... |
ORPHA:2136 |
Grfoma |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Hypercalcemia, Neoplasm of the... |
ORPHA:97261 |
Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To |
|
Nonarteritic anterior ischemic optic neuropathy |
OMIM:258660 |
5Q14.3 Microdeletion Syndrome |
|
Optic nerve hypoplasia |
ORPHA:228384 |
Familial Multiple Nevi Flammei |
|
Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Arteriovenous malformation, Ar... |
ORPHA:624 |
Dengue Fever |
|
Gastrointestinal hemorrhage, Hepatomegaly, Ascites, Hypoproteinemia |
ORPHA:99828 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Anal stenosis, Rectal prolapse, Lymphadenopathy, Neoplasm of the rectum, Neoplasm of the liver, I... |
ORPHA:424019 |
Reynolds Syndrome |
|
Hepatomegaly, Abnormal gastric mucosa morphology, Xerostomia, Gastroesophageal reflux, Dysphagia,... |
ORPHA:779 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Splenomegaly, Hyperlipidemia, Lymphadenopathy |
ORPHA:79477 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Polyhydramnios, Hydrops fetalis, Cleft palate, Pleural effusion, Ascites |
OMIM:616897 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Ascites, Hypoalbuminemia, Nonimmune hydrops fetalis, Oligohydramnios |
OMIM:617021 |
Proteus Syndrome |
|
Venous malformation |
OMIM:176920 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... |
OMIM:610655 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Elevated circulating alpha-fetoprotein conce... |
ORPHA:100085 |
Optic Atrophy-Intellectual Disability Syndrome |
|
Optic atrophy, Optic disc hypoplasia, Optic nerve hypoplasia |
ORPHA:401777 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alpha-fetopro... |
OMIM:619662 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Peripheral axonal neuropathy, Optic atrophy, Optic nerve hypoplasia |
ORPHA:496790 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Splenomegaly, Hepatosplenomegaly, Dyspha... |
OMIM:608013 |
Optic Atrophy 11 |
|
Optic nerve hypoplasia, Optic atrophy, Facial diplegia, Cherry red spot of the macula, Decreased ... |
OMIM:617302 |
Vipoma |
|
Hepatomegaly, Hypercalcemia, Malabsorption, Abnormal abdomen morphology, Dehydration, Hematochezi... |
ORPHA:97282 |
Scimitar Syndrome |
|
Left-to-right shunt, Anomalous origin of left coronary artery from the pulmonary artery, Heart bl... |
ORPHA:185 |
Cerebral Visual Impairment |
|
Optic disc pallor, Optic nerve hypoplasia, Optic atrophy, Retinopathy of prematurity, Increased c... |
ORPHA:447788 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:614833 |
Ppoma |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Hypercalcemia, Abnormal abdome... |
ORPHA:97278 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Genera... |
OMIM:267700 |
Classic Galactosemia |
|
Hepatomegaly, Ascites |
ORPHA:79239 |
Congenital Sialidosis Type 2 |
|
Hepatomegaly, Edema, Protruding tongue, Hepatosplenomegaly, Ascites |
ORPHA:93400 |
Cirrhosis, Familial |
|
Increased level of propylene glycol in blood, Ascites, Esophageal varix |
OMIM:215600 |
Bresek Syndrome |
|
Microphthalmia, Aganglionic megacolon, Optic nerve hypoplasia |
ORPHA:85284 |
Carney Triad |
|
Gastrointestinal hemorrhage, Gastrointestinal stroma tumor, Mediastinal lymphadenopathy, Lymphade... |
ORPHA:139411 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Venous insufficiency, Congestive heart failure, Arteriovenous malformation |
ORPHA:137608 |
Ovarian Fibroma |
|
Pleural effusion, Ascites |
ORPHA:314473 |
Fish-Eye Disease |
|
Splenomegaly, Decreased HDL cholesterol concentration, Hepatomegaly, Lymphadenopathy |
ORPHA:79292 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Colon cancer, Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology |
ORPHA:97290 |
Poems Syndrome |
|
Edema, Pericardial effusion, Lymphadenopathy, Pleural effusion, Ascites, Visceromegaly |
ORPHA:2905 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Optic nerve hypoplasia |
OMIM:618736 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Colon cancer, Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology |
ORPHA:319487 |
Von Willebrand Disease |
|
Venous insufficiency |
ORPHA:903 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Hypersplenism, Splenomegaly, Pericardial effusion, Pedal edema, Ascites |
ORPHA:77259 |
Familial Atrial Myxoma |
|
Ascites, Pedal edema |
ORPHA:615 |
Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Hepatomegaly, Hypoplasia of the small intestine, Polysplenia, Ascites |
OMIM:200995 |
Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Abnormal circulating A-type atrial n... |
ORPHA:57777 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Splenomegaly, Hypoalbuminemia... |
OMIM:251880 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Hepatomegaly, Hyperammonemia, Dehydration, Hypoalbuminemia, Hyperbilirubinemia, Asc... |
ORPHA:1667 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Retinal detachment, Optic nerve hypoplasia, Retinal telangiectasia |
OMIM:620157 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Microphthalmia, Retinal detachment, Optic atrophy, Optic nerve hypoplasia |
ORPHA:370959 |
Granulomatous Disease, Chronic, X-Linked |
|
Hepatomegaly, Splenomegaly, Lymphadenitis, Lymphadenopathy, Rectal abscess, Pleural effusion, Asc... |
OMIM:306400 |
Gjc2-Related Late-Onset Primary Lymphedema |
|
Venous insufficiency, Varicose veins, Hypoplasia of lymphatic vessels, Abnormal lymphatic vessel ... |
ORPHA:568051 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Bilateral microphthalmos, Optic nerve hypoplasia |
OMIM:607597 |
Somatostatinoma |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Hypercalcemia, Abnormal abdome... |
ORPHA:97283 |
Mucopolysaccharidosis Type 7 |
|
Splenomegaly, Ascites, Hydrops fetalis, Lymphedema |
ORPHA:584 |
Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Intestinal malrotation, Hamartoma of tongue, Edema, Polyhydramnios, Splenomegaly, L... |
OMIM:269860 |
Microphthalmia, Syndromic 5 |
|
Microphthalmia, Anophthalmia, Retinal dystrophy, Optic nerve hypoplasia |
OMIM:610125 |
Caroli Disease |
|
Cholangiocarcinoma, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Esophageal varix, ... |
ORPHA:53035 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Abetalipoproteinemia, Decreased LDL cholesterol concentration, Elevated circulating creatine kina... |
ORPHA:96180 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Edema, Pericardial effusion, Hepatosplenomegaly, Hypoalbuminemia, Ascites |
OMIM:619487 |
Parkes Weber Syndrome |
|
Peripheral arteriovenous fistula, Subarachnoid hemorrhage, Cerebral arteriovenous malformation, V... |
ORPHA:90307 |
Aorta Coarctation |
|
Pseudocoarctation of the aorta, Congestive heart failure, Patent ductus arteriosus, Hypoplastic a... |
ORPHA:1457 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatomegaly, Absence of lymph node germinal center, Hepatosplenomegaly, Recurrent gastroenteriti... |
ORPHA:79124 |
Tyrosinemia, Type I |
|
Gastrointestinal hemorrhage, Hypertyrosinemia, Hepatomegaly, Elevated circulating alpha-fetoprote... |
OMIM:276700 |
Lissencephaly Due To Tuba1A Mutation |
|
Aganglionic megacolon, Optic nerve hypoplasia |
ORPHA:171680 |
Familial Mediterranean Fever |
|
Intestinal obstruction, Malabsorption, Splenomegaly, Pedal edema, Lymphadenopathy, Gastrointestin... |
ORPHA:342 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Stillbirth, Hypocalcemia, Hyperbilirubinemia, Asc... |
OMIM:259720 |
Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Lymphedema, Abnormality of the lymphatic system, Chylopericardium, L... |
ORPHA:538 |
Wilson Disease |
|
Hepatomegaly, Decreased circulating ceruloplasmin concentration, Hypouricemia, Edema, Hepatocellu... |
OMIM:277900 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Retinal detachment, Congestive heart failure, Arterial rupture, Aortic dissection, Arterial disse... |
ORPHA:1900 |
Granulomatous Slack Skin |
|
Hypercalcemia, Abnormal lymph node morphology |
ORPHA:33111 |
Farber Disease |
|
Hydrops fetalis, Lymphadenopathy, Hepatosplenomegaly, Joint swelling, Ascites |
ORPHA:333 |
Abetalipoproteinemia |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Decreased LDL cholesterol... |
ORPHA:14 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Elevated hepatic transaminase, Hypoalbuminemia, Steatorrhea, Hypocholesterolemia |
OMIM:212065 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
|
Vascular granular osmiophilic material deposition, Lacunar stroke, Varicose veins, Stroke, Nonart... |
OMIM:125310 |
Glucagonoma |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Hypercalcemia, Abnormal abdome... |
ORPHA:97280 |
Sclerosing Cholangitis, Neonatal |
|
Splenomegaly, Acholic stools, Ascites, Hepatomegaly |
OMIM:617394 |
Nabais Sa-De Vries Syndrome, Type 1 |
|
Optic nerve hypoplasia |
OMIM:618828 |
Meige Disease |
|
Predominantly lower limb lymphedema, Lymphedema, Facial edema, Absence of lymph node germinal cen... |
ORPHA:90186 |
Gallbladder Neuroendocrine Tumor |
|
Biliary tract neoplasm, Ascites, Chronic noninfectious lymphadenopathy |
ORPHA:100086 |
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome |
|
Optic nerve hypoplasia |
OMIM:618381 |
Kaposi Sarcoma |
|
Venous insufficiency, Abnormal retinal morphology |
ORPHA:33276 |
Primary Biliary Cholangitis |
|
Celiac disease, Conjugated hyperbilirubinemia, Gastrointestinal inflammation, Ascites, Hypoalbumi... |
ORPHA:186 |
Pseudo-Torch Syndrome 2 |
|
Hepatomegaly, Pleural effusion, Ascites |
OMIM:617397 |
Ovarian Fibrothecoma |
|
Pleural effusion, Ascites |
ORPHA:314478 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Decreased circulating plasmalogen concentration, Optic nerve hypoplasia |
OMIM:222765 |
Alg12-Cdg |
|
Hyponatremia, Abnormal circulating enzyme concentration or activity, Elevated hepatic transaminas... |
ORPHA:79324 |
Hyperlipoproteinemia, Type I |
|
Hyperlipidemia, Jaundice, Lactescent serum, Increased circulating chylomicron concentration, Hype... |
OMIM:238600 |
Erythrocytosis, Familial, 2 |
|
Cerebral hemorrhage, Varicose veins, Stroke, Hypotension, Pulmonary arterial hypertension |
OMIM:263400 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short uvula, Hydrops fetalis, Cleft palate, High palate, Ascites |
OMIM:614091 |
Tempi Syndrome |
|
Transudative pleural effusion, Ascites |
ORPHA:284227 |
Ovarian Hyperstimulation Syndrome |
|
Pulmonary edema, Peripheral edema, Pleural effusion, Ascites, Generalized edema |
ORPHA:64739 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial fibrillation, A... |
ORPHA:1677 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Intestinal perforation, Hematemesis, Hematochezia, Melena, Hyperbili... |
ORPHA:464321 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Retinal dystrophy, Optic nerve hypoplasia |
OMIM:300953 |
Necrotizing Enterocolitis |
|
Hyponatremia, Ascites, Edema |
ORPHA:391673 |
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Optic nerve hypoplasia |
ORPHA:572013 |
Primary Sclerosing Cholangitis |
|
Cholangiocarcinoma, Hepatomegaly, Hepatocellular carcinoma, Celiac disease, Splenomegaly, Ulcerat... |
ORPHA:171 |
Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Ascites, Esophageal varix |
ORPHA:974 |
Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Cholangiocarcinoma, Hyponatremia, Hypersplenism, Splenomegaly, Esoph... |
ORPHA:731 |
Peripheral Primitive Neuroectodermal Tumor |
|
Pelvic mass, Ascites, Elevated carcinoma antigen 125 level, Elevated circulating alpha-fetoprotei... |
ORPHA:370348 |
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Optic nerve hypoplasia |
ORPHA:363686 |
Cardiofaciocutaneous Syndrome 4 |
|
Optic nerve hypoplasia |
OMIM:615280 |
Verheij Syndrome |
|
Optic nerve hypoplasia |
OMIM:615583 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Periorbital edema, Pyloric stenosis, Rectal prolapse, Hypoplasia of the thymus,... |
OMIM:613177 |
Perlman Syndrome |
|
Distal ileal atresia, Polyhydramnios, Edema, Volvulus, Ascites, Visceromegaly |
OMIM:267000 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... |
OMIM:187300 |
Tatton-Brown-Rahman Syndrome |
|
Optic nerve hypoplasia |
OMIM:615879 |
Truncus Arteriosus |
|
Aortic regurgitation, Tachycardia, Single coronary artery origin, Abnormal coronary artery morpho... |
ORPHA:3384 |
Spastic Paraplegia 54, Autosomal Recessive |
|
Optic nerve hypoplasia |
OMIM:615033 |
Milroy Disease |
|
Varicose veins, Abnormal venous morphology |
ORPHA:79452 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Intestinal obstruction, D... |
ORPHA:85450 |
Phace Association |
|
Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Increased retinal vascularity, Microphtha... |
OMIM:606519 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:617914 |
Intrahepatic Cholestasis Of Pregnancy |
|
Increased serum bile acid concentration, Ascites, Hyperbilirubinemia |
ORPHA:69665 |
Aniridia 1 |
|
Hypoplasia of the fovea, Optic nerve hypoplasia, Hypoplasia of the iris, Chorioretinal hypopigmen... |
OMIM:106210 |
Senior-Boichis Syndrome |
|
Hepatosplenomegaly, Ascites, Esophageal varix, Increased total bilirubin |
ORPHA:84081 |
Fumarase Deficiency |
|
Necrotizing enterocolitis, Polyhydramnios, High palate, Hyperbilirubinemia, Ascites |
OMIM:606812 |
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Ascites |
ORPHA:2848 |
Fanconi Anemia, Complementation Group I |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:609053 |
Congenital Myopathy 22B, Severe Fetal |
|
Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, High palate, Pleural effusion, Ascites |
OMIM:620369 |
Lymphatic Malformation 12 |
|
Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Neonatal death |
OMIM:620014 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Pericardial effusion, Hepatomegaly, Ascites, Pulmonary edema |
OMIM:115197 |
Septo-Optic Dysplasia Spectrum |
|
Septo-optic dysplasia, Optic nerve hypoplasia |
ORPHA:3157 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Polyhydramnios, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethionine... |
OMIM:617156 |
Mosaic Variegated Aneuploidy Syndrome |
|
Intestinal polyposis, Polyhydramnios, Increased nuchal translucency, Cleft palate, Colon cancer, ... |
ORPHA:1052 |
Fraser Syndrome 3 |
|
Ascites, Stillbirth, Nonimmune hydrops fetalis, Oligohydramnios |
OMIM:617667 |
Livedoid Vasculopathy |
|
Telangiectasia of the skin, Abnormal capillary morphology, Venous insufficiency, Hypertension, Va... |
ORPHA:542643 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Optic nerve hypoplasia |
OMIM:301056 |
Enlarged Parietal Foramina |
|
Abnormal cerebral vein morphology, Venous malformation |
ORPHA:60015 |
Charcot-Marie-Tooth Disease Type 1F |
|
Decreased nerve conduction velocity, Absent brainstem auditory responses, Decreased number of lar... |
ORPHA:101085 |
Loeys-Dietz Syndrome 6 |
|
Carotid artery dissection, Thoracic aortic aneurysm, Varicose veins, Dilatation of the cerebral a... |
OMIM:619656 |
D-Glyceric Aciduria |
|
Optic nerve hypoplasia |
OMIM:220120 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Intestinal malrotation, Esophageal varix, Anasarca, Gastroesophageal reflux, Hypocalcemia, High p... |
OMIM:613658 |
Kaufman Oculocerebrofacial Syndrome |
|
Hypocholesterolemia |
OMIM:244450 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Pericardial effusion, Macroglossia, Anasarca, Peripheral edema, Pleural effusion, Ascites, Pulmon... |
OMIM:261740 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Optic nerve hypoplasia |
OMIM:612513 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Abnormal vena cava morphology, Heart murmur, Rod-cone dystrophy, Retinal degeneration |
ORPHA:166035 |
Rabin-Pappas Syndrome |
|
Retinal detachment, Optic nerve hypoplasia, Retinal telangiectasia |
OMIM:620155 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Splenomegaly, Abnormal lymph node morphology, Hepatosplenomegaly |
OMIM:612840 |
Xfe Progeroid Syndrome |
|
Ascites, Hypoalbuminemia |
OMIM:610965 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Retinal detachment, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Retinal dysp... |
OMIM:614643 |
2P15P16.1 Microdeletion Syndrome |
|
Optic nerve hypoplasia, Optic atrophy, Facial palsy |
ORPHA:261349 |
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Optic disc pallor, Retinal coloboma, Optic nerve hypoplasia |
OMIM:300749 |
Cardiac Diverticulum |
|
Ventricular tachycardia, Pulmonary artery hypoplasia, Abnormal EKG, Patent ductus arteriosus, Pul... |
ORPHA:1686 |
Renal Nutcracker Syndrome |
|
Orthostatic hypotension, Tachycardia, Vulval varicose vein, Varicose veins, Syncope, Renal artery... |
ORPHA:71273 |
19P13.13 Microdeletion Syndrome |
|
Optic atrophy, Optic nerve hypoplasia |
ORPHA:357001 |
Functioning Gonadotropic Adenoma |
|
Ascites |
ORPHA:91348 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Optic nerve hypoplasia |
OMIM:617864 |
White-Sutton Syndrome |
|
Rod-cone dystrophy, Optic nerve hypoplasia |
OMIM:616364 |
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 |
OMIM:613089 |
Absence Of The Pulmonary Artery |
|
Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Abnormal coronary artery morpholo... |
ORPHA:980 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Optic nerve hypoplasia, Abnormal autonomic nervous system physiology |
ORPHA:300570 |
Heterotaxy, Visceral, 4, Autosomal |
|
Dextrotransposition of the great arteries, Right aortic arch, Interrupted inferior vena cava with... |
OMIM:613751 |
Thoracic Outlet Syndrome |
|
Varicose veins |
ORPHA:97330 |
Varicose Veins |
|
Varicose veins |
OMIM:192200 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Splenomegaly, Ascites, Hepatomegaly |
OMIM:301072 |
Lymphedema-Distichiasis Syndrome |
|
Patent ductus arteriosus, Varicose veins, Arrhythmia, Conjunctivitis |
ORPHA:33001 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Abnormal venous morphology, Telangiectasia of the skin, Abnormal cerebral vascular morphology |
ORPHA:276280 |
Fg Syndrome Type 1 |
|
Optic nerve hypoplasia |
ORPHA:93932 |
Lymphatic Malformation 13 |
|
Neonatal death, Ascites, Nonimmune hydrops fetalis, Lymphedema |
OMIM:620244 |
Dubowitz Syndrome |
|
Hypocholesterolemia |
OMIM:223370 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Retinal detachment, Retinal atrophy, Optic nerve hypoplasia, Optic atrophy, Retinal dysplasia, Mi... |
OMIM:236670 |
Proteus-Like Syndrome |
|
Venous insufficiency, Retinal detachment |
ORPHA:2969 |
Autosomal Dominant Spastic Paraplegia Type 10 |
|
Varicose veins, Rod-cone dystrophy |
ORPHA:100991 |
Familial Cerebral Cavernous Malformation |
|
Venous malformation, Choroidal hemangioma, Retinal cavernous angioma, Cerebral hemorrhage |
ORPHA:221061 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphadenitis, Lymphadenopathy, Hepatosplenomegaly, Abnormal lymph node morphology, Colitis, Recu... |
ORPHA:911 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Abnormality of the lymphatic system, Elevated circulating C-reactive protein concentration, Abnor... |
ORPHA:54251 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hepatomegaly, Edema, Polyhydramnios, Conjugated hyperbilirubinemia, Increased circulating ferriti... |
OMIM:619534 |
Primary Ciliary Dyskinesia |
|
Anomalous pulmonary venous return, Transposition of the great arteries, Double outlet right ventr... |
ORPHA:244 |
16Q24.3 Microdeletion Syndrome |
|
Optic nerve hypoplasia |
ORPHA:261250 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Optic disc hypoplasia, Optic nerve hypoplasia |
ORPHA:79345 |
Meacham Syndrome |
|
Patent ductus arteriosus, Partial anomalous pulmonary venous return, Coarctation of aorta, Right ... |
OMIM:608978 |
Crimean-Congo Hemorrhagic Fever |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Hematemesis, Splenomegaly, Peri... |
ORPHA:99827 |
Thymic Carcinoma |
|
Abnormal vena cava morphology |
ORPHA:99868 |
Lymphedema-Distichiasis Syndrome |
|
Patent ductus arteriosus, Varicose veins, Conjunctivitis, Arrhythmia, Tetralogy of Fallot |
OMIM:153400 |
Stromme Syndrome |
|
Retinal vascular tortuosity, Microphthalmia, Optic nerve hypoplasia |
OMIM:243605 |
Liposarcoma |
|
Varicose veins |
ORPHA:69078 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Hepatomegaly, Ascites, Hepatocellular carcinoma |
OMIM:256810 |
Immunodeficiency 22 |
|
Ascites |
OMIM:615758 |
Liver Disease, Severe Congenital |
|
Hyponatremia, Chronic gastritis, Hepatomegaly, Elevated circulating alpha-fetoprotein concentrati... |
OMIM:619991 |
Niemann-Pick Disease Type C |
|
Hepatomegaly, Fetal ascites, Splenomegaly, Hydrops fetalis, Hepatosplenomegaly, Dysphagia, Ascites |
ORPHA:646 |
Craniosynostosis 4 |
|
Optic nerve hypoplasia |
OMIM:600775 |
Adenocarcinoma Of The Anal Canal |
|
Anal stenosis, Anal canal adenocarcinoma, Rectal prolapse, Lymphadenopathy, Neoplasm of the rectu... |
ORPHA:424016 |
Smith-Lemli-Opitz Syndrome |
|
Hepatomegaly, Aganglionic megacolon, Intestinal malrotation, Pyloric stenosis, Gastrointestinal d... |
OMIM:270400 |
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Optic nerve hypoplasia |
OMIM:620029 |
Johanson-Blizzard Syndrome |
|
Colonic diverticula, Hepatomegaly, Increased VLDL cholesterol concentration, Malabsorption, Conju... |
OMIM:243800 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Optic nerve hypoplasia |
ORPHA:221139 |
Asparagine Synthetase Deficiency |
|
Optic nerve hypoplasia |
OMIM:615574 |
Foix-Alajouanine Syndrome |
|
Arteriovenous fistula, Venous malformation |
ORPHA:79093 |
Chronic Graft Versus Host Disease |
|
Esophageal stricture, Xerostomia, Pleural effusion, Abnormal esophagus morphology, Gastroesophage... |
ORPHA:99921 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Optic disc pallor, Bilateral microphthalmos, Optic nerve hypoplasia, Attenuation of retinal blood... |
ORPHA:468631 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Optic nerve hypoplasia, Facial palsy, Abnormal optic disc morphology, Retinal coloboma, Microphth... |
ORPHA:508498 |
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Vascular dilatation, Varicose veins, Pulmonic stenosis, Aortic dissection |
OMIM:618343 |
Acromelic Frontonasal Dysostosis |
|
Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:603671 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Optic nerve hypoplasia |
OMIM:617506 |
Menkes Disease |
|
Gastrointestinal hemorrhage, Venous insufficiency, Arterial stenosis, Intracranial hemorrhage, Ab... |
ORPHA:565 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Hepatomegaly, Anasarca, Ascites |
OMIM:203700 |
Clapo Syndrome |
|
Varicose veins, Venous malformation |
ORPHA:168984 |
Thymic Neuroendocrine Tumor |
|
Abnormal vena cava morphology, Prominent veins on trunk |
ORPHA:97289 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Patent ductus arteriosus, Varicose veins, Pulmonic stenosis, Facial telangiectasia, Left superior... |
OMIM:602782 |
Tetraamelia-Multiple Malformations Syndrome |
|
Microphthalmia, Septo-optic dysplasia, Optic atrophy |
ORPHA:3301 |
Congenital Fibrosis Of Extraocular Muscles |
|
Optic nerve hypoplasia |
ORPHA:45358 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Optic disc coloboma, Optic nerve hypoplasia |
ORPHA:536471 |
Cerebrooculonasal Syndrome |
|
Anophthalmia, Optic nerve hypoplasia |
OMIM:605627 |
Marshall-Smith Syndrome |
|
Optic nerve hypoplasia |
OMIM:602535 |
X-Linked Intellectual Disability, Nascimento Type |
|
Patent ductus arteriosus, Abnormal vena cava morphology, Double outlet right ventricle, Pulmonary... |
ORPHA:163956 |
Kikuchi-Fujimoto Disease |
|
Abnormality of the gastrointestinal tract, Hepatomegaly, Generalized lymphadenopathy, Palpebral e... |
ORPHA:50918 |
Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Splenomegaly, Pedal edema, Peripheral edema, Hypoalbuminemia, Ascites |
ORPHA:75565 |
Eisenmenger Syndrome |
|
Hepatomegaly, Elevated circulating C-reactive protein concentration, Pedal edema, Peripheral edem... |
ORPHA:97214 |
Glomuvenous Malformation |
|
Gastrointestinal arteriovenous malformation, Arteriovenous malformation, Venous malformation |
ORPHA:83454 |
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 |
Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Second degree atrioventricular block, Aortic valve st... |
OMIM:108800 |
Hydranencephaly |
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Chorioretinal atrophy, Optic nerve hypoplasia |
ORPHA:2177 |
Congenital Tracheal Stenosis |
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Polyhydramnios, Abnormal stomach morphology, Fetal ascites, Tracheoesophageal fistula, Oligohydra... |
ORPHA:141127 |
Holoprosencephaly 13, X-Linked |
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Septo-optic dysplasia, Optic nerve hypoplasia |
OMIM:301043 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
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Prominent superficial veins, Patent ductus arteriosus, Varicose veins, Mitral regurgitation, Pulm... |
OMIM:612541 |
Cutis Marmorata Telangiectatica Congenita |
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Ascites |
ORPHA:1556 |
H Syndrome |
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Varicose veins, Abnormal cardiovascular system physiology, Facial telangiectasia |
ORPHA:168569 |
Phace Syndrome |
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Optic nerve hypoplasia, Microphthalmia, Lens coloboma, Retinal vascular malformation |
ORPHA:42775 |
Atresia Of Urethra |
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Ascites, Oligohydramnios |
ORPHA:105 |
Rhombencephalosynapsis |
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Septo-optic dysplasia, Aganglionic megacolon |
ORPHA:59315 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
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Carotid artery stenosis, Prominent veins on trunk, Varicose veins, Keratoconjunctivitis sicca, Ao... |
ORPHA:536532 |
Pancreatic And Cerebellar Agenesis |
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Optic nerve hypoplasia |
OMIM:609069 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
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Optic atrophy, Retinal dystrophy, Optic nerve hypoplasia |
OMIM:619321 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
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Varicose veins |
OMIM:314300 |
Holoprosencephaly 9 |
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Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:610829 |
Proboscis Lateralis |
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Anophthalmia, Optic nerve hypoplasia, Optic disc coloboma, Chorioretinal coloboma, Microphthalmia |
ORPHA:141099 |
Pituitary Stalk Interruption Syndrome |
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Septo-optic dysplasia |
ORPHA:95496 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
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Optic nerve hypoplasia |
ORPHA:457284 |
Loeys-Dietz Syndrome 3 |
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Tortuous cerebral arteries, Atrial fibrillation, Thoracic aortic aneurysm, Subarachnoid hemorrhag... |
OMIM:613795 |
22Q11.2 Deletion Syndrome |
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Gastrointestinal hemorrhage, Retinal arteriolar tortuosity, Patent ductus arteriosus, Optic atrop... |
ORPHA:567 |
Gitelman Syndrome |
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Prolonged QT interval, Raynaud phenomenon, Low-to-normal blood pressure, Varicose veins, Syncope,... |
ORPHA:358 |
Pancreatoblastoma |
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Elevated maternal serum alpha-fetoprotein, Abnormal lymph node morphology |
ORPHA:677 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
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Optic nerve hypoplasia |
ORPHA:226307 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
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Venous malformation |
OMIM:612918 |
Generalized Arterial Calcification Of Infancy |
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Polyhydramnios, Edema, Pericardial effusion, Hydrops fetalis, Hypophosphatemic rickets, Ascites |
ORPHA:51608 |
Norrie Disease |
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Retinal detachment, Abnormal chorioretinal morphology, Remnants of the hyaloid vascular system, A... |
ORPHA:649 |
Microphthalmia With Limb Anomalies |
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Venous insufficiency, Optic atrophy |
ORPHA:1106 |
8Q24.3 Microdeletion Syndrome |
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Bilateral microphthalmos, Retinal coloboma, Optic nerve hypoplasia |
ORPHA:508488 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
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Optic nerve hypoplasia |
OMIM:620025 |
Thauvin-Robinet-Faivre Syndrome |
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Varicose veins, Retinal coloboma |
OMIM:617107 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
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Optic nerve hypoplasia |
ORPHA:495875 |
Baller-Gerold Syndrome |
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Optic atrophy, Optic nerve hypoplasia |
OMIM:218600 |
Occipital Horn Syndrome |
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Venous insufficiency, Vascular dilatation |
ORPHA:198 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Optic atrophy, Optic nerve hypoplasia |
ORPHA:500150 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
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Papilledema, Spontaneous, recurrent epistaxis, Calcification of the aorta, Varicose veins, Pulmon... |
ORPHA:2072 |
Vascular Ehlers-Danlos Syndrome |
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Peripheral arteriovenous fistula, Telangiectasia of the skin, Transient ischemic attack, Arterial... |
ORPHA:286 |
Hypermobile Ehlers-Danlos Syndrome |
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Venous insufficiency, Ascending tubular aorta aneurysm, Keratoconjunctivitis sicca, Arterial diss... |
ORPHA:285 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
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Varicose veins, Retinal coloboma |
ORPHA:500095 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
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Septo-optic dysplasia, Optic nerve hypoplasia |
ORPHA:95494 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Malignant gastrointestinal tract tumors, Neoplasm of the stomach, Paradoxical increased cortisol ... |
ORPHA:99889 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
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Optic nerve hypoplasia |
OMIM:620330 |
Ehlers-Danlos Syndrome, Vascular Type |
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Recurrent intrapulmonary hemorrhage, Diffuse alveolar hemorrhage, Descending aortic dissection, A... |
OMIM:130050 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
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Septo-optic dysplasia |
OMIM:619841 |