| 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 |
|
Chorioretinal atrophy, Optic nerve hypoplasia |
ORPHA:2177 |
| Congenital Tracheal Stenosis |
|
Polyhydramnios, Abnormal stomach morphology, Fetal ascites, Tracheoesophageal fistula, Oligohydra... |
ORPHA:141127 |
| Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Optic nerve hypoplasia |
OMIM:301043 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Prominent superficial veins, Patent ductus arteriosus, Varicose veins, Mitral regurgitation, Pulm... |
OMIM:612541 |
| Cutis Marmorata Telangiectatica Congenita |
|
Ascites |
ORPHA:1556 |
| H Syndrome |
|
Varicose veins, Abnormal cardiovascular system physiology, Facial telangiectasia |
ORPHA:168569 |
| Phace Syndrome |
|
Optic nerve hypoplasia, Microphthalmia, Lens coloboma, Retinal vascular malformation |
ORPHA:42775 |
| Atresia Of Urethra |
|
Ascites, Oligohydramnios |
ORPHA:105 |
| Rhombencephalosynapsis |
|
Septo-optic dysplasia, Aganglionic megacolon |
ORPHA:59315 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Carotid artery stenosis, Prominent veins on trunk, Varicose veins, Keratoconjunctivitis sicca, Ao... |
ORPHA:536532 |
| 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 |
| Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Varicose veins |
OMIM:314300 |
| Holoprosencephaly 9 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:610829 |
| Proboscis Lateralis |
|
Anophthalmia, Optic nerve hypoplasia, Optic disc coloboma, Chorioretinal coloboma, Microphthalmia |
ORPHA:141099 |
| Pituitary Stalk Interruption Syndrome |
|
Septo-optic dysplasia |
ORPHA:95496 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Optic nerve hypoplasia |
ORPHA:457284 |
| Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Atrial fibrillation, Thoracic aortic aneurysm, Subarachnoid hemorrhag... |
OMIM:613795 |
| 22Q11.2 Deletion Syndrome |
|
Gastrointestinal hemorrhage, Retinal arteriolar tortuosity, Patent ductus arteriosus, Optic atrop... |
ORPHA:567 |
| Gitelman Syndrome |
|
Prolonged QT interval, Raynaud phenomenon, Low-to-normal blood pressure, Varicose veins, Syncope,... |
ORPHA:358 |
| Pancreatoblastoma |
|
Elevated maternal serum alpha-fetoprotein, Abnormal lymph node morphology |
ORPHA:677 |
| 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 |
| Generalized Arterial Calcification Of Infancy |
|
Polyhydramnios, Edema, Pericardial effusion, Hydrops fetalis, Hypophosphatemic rickets, Ascites |
ORPHA:51608 |
| Norrie Disease |
|
Retinal detachment, Abnormal chorioretinal morphology, Remnants of the hyaloid vascular system, A... |
ORPHA:649 |
| Microphthalmia With Limb Anomalies |
|
Venous insufficiency, Optic atrophy |
ORPHA:1106 |
| 8Q24.3 Microdeletion Syndrome |
|
Bilateral microphthalmos, Retinal coloboma, Optic nerve hypoplasia |
ORPHA:508488 |
| Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Optic nerve hypoplasia |
OMIM:620025 |
| Thauvin-Robinet-Faivre Syndrome |
|
Varicose veins, Retinal coloboma |
OMIM:617107 |
| Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Optic nerve hypoplasia |
ORPHA:495875 |
| Baller-Gerold Syndrome |
|
Optic atrophy, Optic nerve hypoplasia |
OMIM:218600 |
| Occipital Horn Syndrome |
|
Venous insufficiency, Vascular dilatation |
ORPHA:198 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Optic atrophy, Optic nerve hypoplasia |
ORPHA:500150 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Papilledema, Spontaneous, recurrent epistaxis, Calcification of the aorta, Varicose veins, Pulmon... |
ORPHA:2072 |
| Vascular Ehlers-Danlos Syndrome |
|
Peripheral arteriovenous fistula, Telangiectasia of the skin, Transient ischemic attack, Arterial... |
ORPHA:286 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Venous insufficiency, Ascending tubular aorta aneurysm, Keratoconjunctivitis sicca, Arterial diss... |
ORPHA:285 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Varicose veins, Retinal coloboma |
ORPHA:500095 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Septo-optic dysplasia, Optic nerve hypoplasia |
ORPHA:95494 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Malignant gastrointestinal tract tumors, Neoplasm of the stomach, Paradoxical increased cortisol ... |
ORPHA:99889 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Optic nerve hypoplasia |
OMIM:620330 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Recurrent intrapulmonary hemorrhage, Diffuse alveolar hemorrhage, Descending aortic dissection, A... |
OMIM:130050 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Septo-optic dysplasia |
OMIM:619841 |
