Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Absence of lymph node germinal center |
OMIM:235550 |
Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:312500 |
Hereditary Progressive Mucinous Histiocytosis |
|
Lymphadenopathy |
ORPHA:158025 |
Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... |
ORPHA:411527 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99977 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia |
ORPHA:60026 |
Eales Disease |
|
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... |
ORPHA:40923 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal large intestine morphology, Esophageal neopla... |
ORPHA:2198 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Abnormal small intestine morphology, Malabsorption, Splenomegaly, Lymphadenopathy, ... |
ORPHA:100025 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Villous atrophy, Abnormal intestine morphology, Dehydration |
OMIM:251850 |
Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... |
OMIM:133780 |
Lymphangiectasia, Pulmonary, Congenital |
|
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... |
OMIM:265300 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... |
OMIM:193235 |
Immunodeficiency 75 With Lymphoproliferation |
|
Hepatosplenomegaly, Lymphadenopathy, Follicular hyperplasia |
OMIM:619126 |
Mantle Cell Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
Kerion Celsi |
|
Lymphadenopathy |
ORPHA:499 |
Fetal Parvovirus Syndrome |
|
Hypertrophic cardiomyopathy, Increased nuchal translucency, Ascites, Hydrops fetalis |
ORPHA:295 |
Chylous Ascites |
|
Ascites, Abnormal intestine morphology, Lymphedema |
ORPHA:1160 |
Ascites, Chylous |
|
Chylous ascites |
OMIM:208300 |
Congenital Pulmonary Lymphangiectasia |
|
Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Congestive heart failure, Hydrops fetalis, C... |
ORPHA:2414 |
Hydrops Fetalis |
|
Abnormality of the gastrointestinal tract, Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema,... |
ORPHA:1041 |
Kimura Disease |
|
Lymphadenopathy, Follicular hyperplasia |
ORPHA:482 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Epistaxis, Portal hypertension, Splenomegaly, Esophageal varix, Hepatocellular carc... |
OMIM:619463 |
Secondary Intestinal Lymphangiectasia |
|
Intestinal obstruction, Intestinal lymphedema, Increased stool alpha1-antitrypsin concentration, ... |
ORPHA:90363 |
Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... |
OMIM:193220 |
Pseudomyxoma Peritonei |
|
Inflammation of the large intestine, Intestinal obstruction, Ascites, Lymphadenopathy |
ORPHA:26790 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Hepatomegaly, Pulmonary insufficiency, Tricuspid regurgitation, Hydrops fetalis, Pulmonic stenosi... |
OMIM:619433 |
Sialidosis Type 2 |
|
Hepatomegaly, Splenomegaly, Hydrops fetalis, Pedal edema, Ascites, Abnormal macular morphology |
ORPHA:87876 |
Congenital Toxoplasmosis |
|
Abnormality of retinal pigmentation, Ascites, Lymphadenopathy, Hepatomegaly |
ORPHA:858 |
Nephrosialidosis |
|
Pericardial effusion, Ascites |
OMIM:256150 |
Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Polyhydramnios, Patent ductus arteriosus, Hydrops fetalis, Ascites |
ORPHA:2123 |
Immunodeficiency 32A |
|
Lymphadenitis, Lymphadenopathy |
OMIM:614893 |
Ovarian Hyperstimulation Syndrome |
|
Ascites |
OMIM:608115 |
Glycogen Storage Disease Iv |
|
Polyhydramnios, Edema, Portal hypertension, Esophageal varix, Hydrops fetalis, Hepatosplenomegaly... |
OMIM:232500 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Palpebral edema, Nonimmune hydrops fetalis, Lymphedema, Pulmonary lymphangiectasia, Telangiectasi... |
OMIM:137940 |
Primary Intestinal Lymphangiectasia |
|
Increased stool alpha1-antitrypsin concentration, Edema, Pericardial effusion, Functional abnorma... |
ORPHA:90362 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Plantar telangiectasia, Predominantly lower limb lymphedema, Palpebral edema, Abnormality of the ... |
ORPHA:69735 |
Adenocarcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99976 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Hepatomegaly, Ascites, Cutis laxa |
OMIM:301045 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Splenomegaly, Ascites, Polyhydramnios, Oligohydramnios |
ORPHA:1046 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Retinal cotton wool spot, Gastrointestinal hemorrhage, Abnormal retinal vascular morphology, Rayn... |
ORPHA:247691 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Optic atrophy, Hypertrophic cardiomyopathy, Bradycardia, Pleural effusion, ... |
OMIM:614702 |
Focal Segmental Glomerulosclerosis 1 |
|
Hypertension, Pleural effusion, Ascites, Edema |
OMIM:603278 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Splenomegaly, Congestive heart failure, Hydrops fetalis, High palate, Ascites |
OMIM:269920 |
Diarrhea 12, With Microvillus Atrophy |
|
Villous atrophy, Microvillus inclusions, Microvillar PAS-positive secretory granules |
OMIM:619445 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Villous atrophy, Crypt hyperplasia |
OMIM:613217 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphad... |
ORPHA:444463 |
Hepatic Veno-Occlusive Disease |
|
Hepatomegaly, Ascites |
ORPHA:890 |
Lactose Intolerance, Adult Type |
|
Lactose intolerance, Decreased small intestinal mucosa lactase level |
OMIM:223100 |
Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Edema, Malabsorption, Dysphagia, Hematochezia, Protein... |
ORPHA:2070 |
Splenoportal Vascular Anomalies |
|
Splenomegaly, Ascites |
OMIM:271500 |
Mulibrey Nanism |
|
Hepatomegaly, Congestive heart failure, Hydrops fetalis, Pigmentary retinopathy, Microglossia, As... |
OMIM:253250 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Ascites |
OMIM:174050 |
Lactase Deficiency, Congenital |
|
Lactose intolerance, Decreased small intestinal mucosa lactase level, Dehydration |
OMIM:223000 |
Neuraminidase Deficiency |
|
Hepatomegaly, Facial edema, Splenomegaly, Hydrops fetalis, Cardiomyopathy, Cherry red spot of the... |
OMIM:256550 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Villous atrophy, Edema, Protein-losing enteropathy, Steatorrhea, Lymphangiectasis |
OMIM:602579 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Lymphadenopathy |
OMIM:617772 |
Free Sialic Acid Storage Disease |
|
Hepatomegaly, Splenomegaly, Hydrops fetalis, Skin ulcer, Ascites |
ORPHA:834 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Edema, Patent ductus arteriosus, Protein-losing enteropathy, Neonatal death, Ascite... |
OMIM:608104 |
Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
Alg8-Cdg |
|
Abnormality of the gastrointestinal tract, Edema, Optic atrophy, Hydrops fetalis, Cutis laxa, Mac... |
ORPHA:79325 |
Congenital Sialidosis Type 2 |
|
Hypoplasia of the fovea, Hepatomegaly, Abnormal EKG, Edema, Protruding tongue, Optic atrophy, Hep... |
ORPHA:93400 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Edema, Pulmonary embolism, Congestive heart failure, P... |
ORPHA:90308 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Intestinal obstruction, Edema, Malabsorption, Pulmonary embolism, Abnormal intestin... |
OMIM:226300 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Hepatomegaly, Fetal ascites, Polyhydramnios, Splenomegaly, Hydrops fetalis |
OMIM:619462 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Cleft palate, Retinal neovascularization |
OMIM:619074 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology, Mal... |
ORPHA:103907 |
Immunodeficiency 104 |
|
Splenomegaly, T lymphocytopenia, Lymphadenopathy |
OMIM:608971 |
Microvillus Inclusion Disease |
|
Villous atrophy, Abnormal small intestinal villus morphology, Hypovolemia, Dehydration |
ORPHA:2290 |
Wolman Disease |
|
Hepatomegaly, Splenomegaly, Esophageal varix, Steatorrhea, Ascites |
ORPHA:75233 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Epididymitis, Lymphadenopathy |
OMIM:608106 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
Mast Cell Sarcoma |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:66661 |
Reynolds Syndrome |
|
Hepatomegaly, Telangiectasia of the skin, Abnormal gastric mucosa morphology, Xerostomia, Skin ul... |
ORPHA:779 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Goiter, Nodular goiter, Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology |
ORPHA:97290 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Goiter, Nodular goiter, Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology |
ORPHA:319487 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Retinal telangiectasia, Optic atrophy, Exudative retinopathy, Intestinal bleeding, Thin skin, Gas... |
OMIM:612199 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Splenomegaly, Congestive heart failure, Telangiectasia, Cardiomyopathy, Arrhythmia,... |
OMIM:235200 |
Diarrhea 9 |
|
Villous atrophy |
OMIM:618168 |
Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Portal hypertension, Malabsorp... |
ORPHA:131 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Dermal translucency, Oligohydramnios, Esophagitis, Hepatosplenomegaly |
ORPHA:541423 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Villous atrophy, Protein-losing enteropathy |
OMIM:615863 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2 |
|
Arterial rupture, Dermal translucency |
OMIM:619120 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Pyloric stenosis, Cutis laxa, Excessive wrinkled skin, Thin skin, Dermal translucency |
OMIM:614438 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Tricuspid regurgitation, Optic nerve hypoplasia, Polyhydramnios, Patent ductus arteriosus, Right ... |
OMIM:617506 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
Malignant Peritoneal Mesothelioma |
|
Ascites, Pedal edema, Ileus |
ORPHA:168811 |
Lymphatic Malformation 6 |
|
Genital edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Periorbital edema,... |
OMIM:616843 |
Diarrhea 11, Malabsorptive, Congenital |
|
Villous atrophy |
OMIM:618662 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmune thrombocytopenia, Follicular hyp... |
OMIM:619846 |
Combined Oxidative Phosphorylation Deficiency 5 |
|
Redundant neck skin, Hypertrophic cardiomyopathy, Ascites, Edema |
OMIM:611719 |
Niemann-Pick Disease, Type A |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Cherry red spot of the macula, Ascites |
OMIM:257200 |
Tempi Syndrome |
|
Transudative pleural effusion, Telangiectasia, Intracranial hemorrhage, Facial erythema, Ascites |
ORPHA:284227 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia |
OMIM:619164 |
Autoinflammation With Infantile Enterocolitis |
|
Splenomegaly, Villous atrophy, Enterocolitis, Diffuse alveolar hemorrhage |
OMIM:616050 |
Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Reduced natural killer cell count, Lymphadenopathy |
OMIM:618261 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
Pseudo-Torch Syndrome 2 |
|
Hepatomegaly, Cerebral hemorrhage, Patent ductus arteriosus, Bradycardia, Pleural effusion, Ascit... |
OMIM:617397 |
De Barsy Syndrome |
|
Abnormal fundus fluorescein angiography, Patent ductus arteriosus, Cutis laxa, Excessive wrinkled... |
ORPHA:2962 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Villous atrophy, Perianal erythema, Perioral erythema, Duodenitis |
OMIM:614328 |
Congenital Disorder Of Glycosylation, Type Il |
|
Hepatomegaly, Edema, Pericardial effusion, Hepatosplenomegaly, Ascites |
OMIM:608776 |
Burkitt Lymphoma |
|
Decreased proportion of CD4-positive helper T cells, Abnormality of the spleen, Abnormality of th... |
ORPHA:543 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... |
OMIM:615513 |
Congenital Disorder Of Glycosylation, Type Id |
|
Villous atrophy, Optic atrophy, Bifid uvula, High palate, Iris coloboma |
OMIM:601110 |
Desmoplastic Small Round Cell Tumor |
|
Hepatomegaly, Mediastinal lymphadenopathy, Ileus, Lymphadenopathy, Ascites |
ORPHA:83469 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Redundant neck skin, Polyhydramnios, Lymphedema, Thyroid lymphangiectasia, Splenome... |
OMIM:235255 |
Familial Atrial Myxoma |
|
Tricuspid regurgitation, Congestive heart failure, Heart murmur, Pedal edema, Ascites |
ORPHA:615 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia i... |
OMIM:619220 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Arterial rupture, Dermal translucency |
OMIM:619115 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Portal hypertension, Congestive heart fa... |
ORPHA:367 |
Cutis Laxa, Autosomal Dominant 3 |
|
Aortic regurgitation, Premature skin wrinkling, Cutis laxa, Dermal translucency |
OMIM:616603 |
Generalized Eruptive Histiocytosis |
|
Histiocytosis, Leukemia, Hypereosinophilia, Lymphadenopathy |
ORPHA:157991 |
Mitchell-Riley Syndrome |
|
Jejunal atresia, Intestinal malrotation, Malabsorption, Anteriorly placed anus, Ascites, Acholic ... |
OMIM:615710 |
Immunodeficiency 27B |
|
Generalized lymphadenopathy |
OMIM:615978 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Ascites |
OMIM:615122 |
Hypocomplementemic Urticarial Vasculitis |
|
Hepatomegaly, Pericardial effusion, Splenomegaly, Angioedema, Lymphadenopathy, Small vessel vascu... |
ORPHA:36412 |
Griscelli Syndrome |
|
Hepatomegaly, Splenomegaly, Pyloric stenosis, Pedal edema, Lymphadenopathy, Ascites |
ORPHA:381 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Nonimmune hydrops fetalis, Patent ductus arteriosus, Hypertension, Second degree atrioventricular... |
OMIM:617021 |
Reticular Dysgenesis |
|
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus |
OMIM:267500 |
Dengue Fever |
|
Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Cerebral hemorrhage, Hypotension, Ascites, ... |
ORPHA:99828 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Splenomegaly, Hepatomegaly, Ascites, Malabsorption |
OMIM:602347 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Abnormal proportion of CD8-positive T ... |
OMIM:212050 |
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Dermal translucency |
ORPHA:529965 |
Follicular Lymphoma |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:545 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Genital ulcers, Splenomegaly, L... |
OMIM:602450 |
Netherton Syndrome |
|
Hypernatremic dehydration, Villous atrophy, Angioedema, Recurrent infection of the gastrointestin... |
OMIM:256500 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Portal hypertension, Malabsorption, Hypersplenism, Lymphadenopathy, ... |
ORPHA:98850 |
Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Portal hypertension, Hypersplenism, Splenomegaly, Esophageal varix, ... |
ORPHA:64743 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Hepatomegaly, Transient ischemic attack, Cardiac arrest, First degree atrioventricular block, Sud... |
OMIM:115197 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:86893 |
Pilarowski-Bjornsson Syndrome |
|
Dermal translucency |
OMIM:617682 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Cervical lymphadenopathy, B lymphocytopenia, Abnormally low T cell receptor excision circle level |
OMIM:618987 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased proportion of memory T cells, Hepatosplenomegaly, Increased B cell count, Lymphadenopathy |
OMIM:618982 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Villous atrophy, Psoriasiform dermatitis, Enlarged tonsils, Lymphadenopathy, Hepatosplenomegaly, ... |
OMIM:606367 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Generalized lymphadenopathy, Psoriasiform lesion, Villous atrophy, Splenomega... |
OMIM:614700 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g... |
OMIM:619924 |
Mu-Heavy Chain Disease |
|
Splenomegaly, Abnormal B cell count, Anemia, Lymphadenopathy |
ORPHA:100024 |
Gracile Bone Dysplasia |
|
Asplenia, Aniridia, Hypoplastic spleen, Ascites, Ankyloglossia |
OMIM:602361 |
Laryngeal Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone excess |
ORPHA:100083 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Blepharochalasis, Redundant skin, Dermal translucency |
OMIM:225410 |
Granulomatous Slack Skin |
|
Abnormal lymph node morphology |
ORPHA:33111 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti... |
OMIM:300853 |
Cirrhotic Cardiomyopathy |
|
Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left ventricular diastolic... |
ORPHA:57777 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Splenomegaly, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia |
OMIM:603552 |
Rosaï-Dorfman Disease |
|
Anemia, Lymphadenopathy |
ORPHA:158014 |
Lymphatic Malformation 13 |
|
Nonimmune hydrops fetalis, Lymphedema, Patent ductus arteriosus, Retinopathy of prematurity, Mitr... |
OMIM:620244 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Pericarditis, Edema, Portal hypertension, Pericardial effusion, Optic atrophy, Chor... |
OMIM:619487 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Oligohydramnios, High palate, Peripapillary atrophy, Thin skin, Dermal translucency |
ORPHA:536467 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Polyhydramnios, Pericardial effusion, Hematochezia, Coloboma, Anasarca, Protein-losing enteropath... |
OMIM:618183 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Polyhydramnios, Hydrops fetalis, Cleft palate, Hypertrophic cardiomyopathy, Webbed neck, Pleural ... |
OMIM:616897 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Absence of lymph node germinal center |
OMIM:608184 |
Ovarian Fibroma |
|
Pleural effusion, Ascites |
ORPHA:314473 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Redundant neck skin, Polyhydramnios, Splenomegaly, Pancreatic lymphangiectasis, Pul... |
ORPHA:1655 |
Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Villous atrophy, Colitis |
OMIM:614602 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Cleft palate, Cutis laxa, Dermal translucency |
OMIM:615349 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Neutropenia, Absence of lymph node germinal center |
OMIM:606843 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Hemophagocytosis, Thrombocytopenia |
OMIM:613101 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Follicular hyperplasia, Splenomegaly... |
OMIM:614470 |
Refractory Celiac Disease |
|
Villous atrophy, Malabsorption, Protein-losing enteropathy, Jejunitis, Abnormal spleen physiology |
ORPHA:398063 |
Familial Mediterranean Fever |
|
Intestinal obstruction, Pericarditis, Myocardial infarction, Malabsorption, Splenomegaly, Erythem... |
ORPHA:342 |
Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Spider hemangioma, Splenomegaly, Ulcerative colitis, Inflammation of... |
ORPHA:2137 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Lymphadenopathy |
OMIM:605258 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Splenomegaly, Hepatosplenomegaly, Dyspha... |
OMIM:608013 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Intestinal perfora... |
ORPHA:464321 |
Ovarian Hyperstimulation Syndrome |
|
Pulmonary edema, Hypovolemia, Capillary leak, Peripheral edema, Pleural effusion, Ascites, Genera... |
ORPHA:64739 |
Poems Syndrome |
|
Papilledema, Edema, Pericardial effusion, Lymphadenopathy, Pulmonary arterial hypertension, Pleur... |
ORPHA:2905 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatomegaly, Villous atrophy, Pericarditis, Nonimmune hydrops fetalis, Edema, Pericardial effusi... |
OMIM:212065 |
Pediatric Systemic Lupus Erythematosus |
|
Abnormality of the gastrointestinal tract, Edema, Pericardial effusion, Raynaud phenomenon, Lymph... |
ORPHA:93552 |
Xfe Progeroid Syndrome |
|
Optic atrophy, Dry skin, Hypertension, Ascites, Attenuation of retinal blood vessels |
OMIM:610965 |
Fish-Eye Disease |
|
Splenomegaly, Lymphadenopathy |
ORPHA:79292 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Left axis deviation, Pericardial effusion, Congestive heart failure, ST se... |
OMIM:261740 |
Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
Immunodeficiency 87 And Autoimmunity |
|
Hepatomegaly, Atrophic gastritis, Villous atrophy, Necrotizing enterocolitis, Cervical lymphadeno... |
OMIM:619573 |
Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... |
ORPHA:60041 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Abnormal lymph node morphology, Hepatos... |
OMIM:612840 |
Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly, ... |
OMIM:209950 |
Fontaine Progeroid Syndrome |
|
Tricuspid regurgitation, Redundant skin, Protruding tongue, High, narrow palate, Patent ductus ar... |
OMIM:612289 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, Ge... |
OMIM:615559 |
Cirrhosis, Familial |
|
Hypertension, Ascites, Esophageal varix, Pulmonary arterial hypertension |
OMIM:215600 |
Farber Disease |
|
Hydrops fetalis, Hepatosplenomegaly, Lymphadenopathy, Macular degeneration, Joint swelling, Cherr... |
ORPHA:333 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Neutrophilia, Abnormality of the lymphatic system, Abnormal lymph node morphology, Abnormal testi... |
ORPHA:54251 |
Carney Triad |
|
Gastrointestinal hemorrhage, Tachycardia, Gastrointestinal stroma tumor, Mediastinal lymphadenopa... |
ORPHA:139411 |
Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Lymphedema, Retinal hamartoma, Abnormality of the lymphatic system, ... |
ORPHA:538 |
Classic Galactosemia |
|
Hepatomegaly, Ascites |
ORPHA:79239 |
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Pulmonic stenosis, Dermal translucency |
OMIM:618343 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Pericardial effusion, Splenomegaly, Hypersplenism, Pedal edema, Pulmonary arterial ... |
ORPHA:77259 |
Cutis Marmorata Telangiectatica Congenita |
|
Retinal detachment, Telangiectasia of the skin, Patent ductus arteriosus, Ascites, Purpura |
ORPHA:1556 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermitte... |
OMIM:150550 |
Mycosis Fungoides |
|
Lymphadenopathy |
OMIM:254400 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Oligohydramnios, Cutis laxa, High palate, Bradycardia, Pulmonary insufficiency, Dermal translucency |
OMIM:614437 |
Immunodeficiency 22 |
|
Retinal vasculitis, Pericarditis, Ascites, Capillary leak |
OMIM:615758 |
Immunodeficiency 109 With Lymphoproliferation |
|
Splenomegaly, Pancytopenia, Generalized lymphadenopathy, Absent circulating B cells |
OMIM:620282 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Right ventricular failure, Heart murmur, Neo... |
ORPHA:100085 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Pleural effusion, Ascites, Nonimmune hydrops fetalis |
OMIM:617049 |
Ovarian Fibrothecoma |
|
Pleural effusion, Ascites |
ORPHA:314478 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Palpebral edema, Edema, Pulmonary embolism, Facial edema, Pedal edema, Hypertension, Anasarca, Pl... |
ORPHA:567546 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Absent ... |
ORPHA:277 |
Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Intestinal malrotation, Polyhydramnios, Edema, Hamartoma of tongue, Splenomegaly, P... |
OMIM:269860 |
Pfapa Syndrome |
|
Splenomegaly, Lymphadenopathy |
ORPHA:42642 |
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Pericarditis, Ascites, Mitral regurgitation |
ORPHA:2848 |
Syndromic Diarrhea |
|
Aortic regurgitation, Hepatomegaly, Villous atrophy, Gastritis, Splenomegaly, Patent ductus arter... |
ORPHA:84064 |
Barber-Say Syndrome |
|
Redundant skin, Velopharyngeal insufficiency, High palate, Premature skin wrinkling, Dry skin, De... |
OMIM:209885 |
Autosomal Dominant Cutis Laxa |
|
Aortic regurgitation, Redundant neck skin, Redundant skin, Congestive heart failure, Cutis laxa, ... |
ORPHA:90348 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenomegaly, Decreas... |
OMIM:619375 |
Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Hepatomegaly, Hypoplasia of the small intestine, Polysplenia, Ascites |
OMIM:200995 |
Pearson Marrow-Pancreas Syndrome |
|
Hepatomegaly, Villous atrophy, Malabsorption, Erythema, Hydrops fetalis, Dehydration, Pallor, Ste... |
OMIM:557000 |
Mucopolysaccharidosis Type 7 |
|
Splenomegaly, Ascites, Hydrops fetalis, Lymphedema |
ORPHA:584 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Splenomegaly, Leukocytosis, Lymphadenopathy |
OMIM:611762 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Acholic stools, Ascites |
OMIM:617394 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Villous atrophy, Ileus, Lymphadenopathy |
OMIM:304790 |
Immunodeficiency, Common Variable, 2 |
|
Splenomegaly, Follicular hyperplasia, Lymphadenopathy |
OMIM:240500 |
Liver Disease, Severe Congenital |
|
Hepatomegaly, Dermal translucency, Chronic gastritis, Splenomegaly, Patent ductus arteriosus, Abn... |
OMIM:619991 |
Restrictive Dermopathy |
|
Polyhydramnios, Patent ductus arteriosus, Submucous cleft hard palate, Scaling skin, Webbed neck,... |
ORPHA:1662 |
Fumarase Deficiency |
|
Necrotizing enterocolitis, Polyhydramnios, Optic atrophy, High palate, Pallor, Ascites |
OMIM:606812 |
Proprotein Convertase 1/3 Deficiency |
|
Villous atrophy, Malabsorption |
OMIM:600955 |
Schnitzler Syndrome |
|
Splenomegaly, Leukocytosis, Anemia, Lymphadenopathy |
ORPHA:37748 |
Necrotizing Enterocolitis |
|
Shock, Edema, Bradycardia, Hypotension, Ascites |
ORPHA:391673 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Retinal dystrophy, Posterior lenticonus, Chorioretinal c... |
ORPHA:231736 |
Hennekam Syndrome |
|
Lymphedema, Pericardial effusion, Splenomegaly, Malabsorption, Pyloric stenosis, Pulmonary lympha... |
ORPHA:2136 |
Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Dehydration |
OMIM:619377 |
Indolent Systemic Mastocytosis |
|
Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytosis, Abnormal m... |
ORPHA:98848 |
Caspase 8 Deficiency |
|
Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy |
OMIM:607271 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Splenomegaly, Autoimmune hemolytic anemia, Decreased CD4:CD8 ratio, Lymphadenopathy |
OMIM:618495 |
Immunodeficiency 54 |
|
Splenomegaly, Reduced natural killer cell count, Adrenocorticotropic hormone excess, Lymphadenopathy |
OMIM:609981 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatomegaly, Portal hypertension, Absence of lymph node germinal center, Hepatosplenomegaly, Rec... |
ORPHA:79124 |
Chylomicron Retention Disease |
|
Accumulation of lipid droplets in small-bowel enterocytes, Steatorrhea |
OMIM:246700 |
Osteopetrosis, Autosomal Recessive 5 |
|
Optic disc pallor, Hepatomegaly, Splenomegaly, Optic atrophy, Hepatosplenomegaly, Stillbirth, Asc... |
OMIM:259720 |
Immunodeficiency 31C |
|
Hepatomegaly, Villous atrophy, Splenomegaly, Lymphadenopathy, Gastrointestinal eosinophilia, Prot... |
OMIM:614162 |
Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Intestinal malrotation, Dehydration, Decreased intestinal transit time, Ste... |
OMIM:615237 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Hepatocellular necrosis, Ascites |
OMIM:251880 |
Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Portal hypertension, Esophageal varix, Pulmonary arterial hypertensi... |
ORPHA:974 |
Classic Mycosis Fungoides |
|
Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy |
ORPHA:2584 |
Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, Follicular hype... |
OMIM:601859 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Redundant skin, Periorbital edema, Pyloric stenosis, Rectal prolapse, Cutis lax... |
OMIM:613177 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short uvula, Hydrops fetalis, Cleft palate, High palate, Ascites |
OMIM:614091 |
Perlman Syndrome |
|
Distal ileal atresia, Polyhydramnios, Edema, Volvulus, Ascites, Visceromegaly |
OMIM:267000 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Immunodeficiency 7 |
|
Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neutropenia |
OMIM:615387 |
Immunodeficiency, Common Variable, 1 |
|
Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of class... |
OMIM:607594 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Abnormal left ventricular function, Conjunctivitis, Ecchymosis, Internal hem... |
ORPHA:99827 |
Chondrodysplasia, Blomstrand Type |
|
Stillbirth, Fetal ascites, Hydrops fetalis, Polyhydramnios |
OMIM:215045 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Pedal edema, Left bund... |
ORPHA:75565 |
Tularemia |
|
Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Cervical lymphadenopathy, Mediastinal l... |
ORPHA:3392 |
Medullary Thyroid Carcinoma |
|
Nodular goiter, Primary hyperparathyroidism, Pheochromocytoma, Lymphadenopathy |
ORPHA:1332 |
Bare Lymphocyte Syndrome, Type Ii |
|
Villous atrophy, Colitis, Malabsorption |
OMIM:209920 |
Cold Agglutinin Disease |
|
Splenomegaly, Hemolytic anemia, Lymphadenopathy |
ORPHA:56425 |
Granulomatous Disease, Chronic, X-Linked |
|
Hepatomegaly, Splenomegaly, Lymphadenitis, Lymphadenopathy, Rectal abscess, Pleural effusion, Asc... |
OMIM:306400 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, Follicular hype... |
OMIM:603909 |
Pleural Mesothelioma |
|
Lymphadenopathy |
ORPHA:50251 |
Activated Pi3K-Delta Syndrome |
|
Splenomegaly, Recurrent tonsillitis, B lymphocytopenia, Lymphadenopathy |
ORPHA:397596 |
Fibromuscular Dysplasia, Multifocal |
|
Hiatus hernia, High palate, Striae distensae, Dermal translucency |
OMIM:619329 |
Omenn Syndrome |
|
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Hypoplas... |
OMIM:603554 |
Loeys-Dietz Syndrome 1 |
|
Eosinophilic infiltration of the esophagus, Patent ductus arteriosus, Cleft palate, Bifid uvula, ... |
OMIM:609192 |
Immunodeficiency 85 And Autoimmunity |
|
Villous atrophy |
OMIM:619510 |
Lymphatic Malformation 12 |
|
Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Neonatal death |
OMIM:620014 |
Thyroid Lymphoma |
|
Goiter, Lymphadenopathy |
ORPHA:97285 |
Primary Sclerosing Cholangitis |
|
Hepatomegaly, Cholangiocarcinoma, Spider hemangioma, Hepatocellular carcinoma, Celiac disease, Sp... |
ORPHA:171 |
Leishmaniasis |
|
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Le... |
ORPHA:507 |
Trichohepatoenteric Syndrome 1 |
|
Aortic regurgitation, Hepatomegaly, Villous atrophy, Polyhydramnios, Splenomegaly, Pulmonic steno... |
OMIM:222470 |
Gallbladder Neuroendocrine Tumor |
|
Biliary tract neoplasm, Ascites, Chronic noninfectious lymphadenopathy |
ORPHA:100086 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... |
ORPHA:911 |
Vipoma |
|
Hepatomegaly, Malabsorption, Abnormal abdomen morphology, Erythema, Dehydration, Hematochezia, Ne... |
ORPHA:97282 |
Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy |
OMIM:612783 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leukemia, Bone marr... |
ORPHA:3226 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Splenomegaly, Esophageal varix, Ascites |
ORPHA:53035 |
Fraser Syndrome 3 |
|
Stillbirth, Ascites, Nonimmune hydrops fetalis, Oligohydramnios |
OMIM:617667 |
Cinca Syndrome |
|
Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Anemia |
OMIM:607115 |
Griscelli Syndrome Type 2 |
|
Pancytopenia, Splenomegaly, Lymphadenopathy, Hemophagocytosis, Neutropenia |
ORPHA:79477 |
Heme Oxygenase 1 Deficiency |
|
Hemolytic anemia, Asplenia, Cervical lymphadenopathy, Lymphadenopathy, Coombs-positive hemolytic ... |
OMIM:614034 |
Primary Biliary Cholangitis |
|
Orthostatic hypotension, Portal hypertension, Celiac disease, Gastrointestinal inflammation, Hepa... |
ORPHA:186 |
Thymic Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Pituitary null cell adenoma, Pancreatic islet cell adenoma... |
ORPHA:97289 |
Acquired Hypertrichosis Lanuginosa |
|
Ovarian neoplasm, Lymphadenopathy |
ORPHA:2221 |
Classic Hodgkin Lymphoma |
|
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:391 |
Lymphoproliferative Syndrome 1 |
|
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... |
OMIM:613011 |
Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... |
OMIM:619802 |
Wolcott-Rallison Syndrome |
|
Hepatomegaly, Ascites, Dehydration |
ORPHA:1667 |
Alg9-Cdg |
|
Hepatomegaly, Villous atrophy, Tricuspid regurgitation, Pericardial effusion, Hydrops fetalis, Ga... |
ORPHA:79328 |
Mosaic Variegated Aneuploidy Syndrome |
|
Intestinal polyposis, Aortic regurgitation, Polyhydramnios, Increased nuchal translucency, Cleft ... |
ORPHA:1052 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Lymphocytosis, Hemophagocytosis, Ne... |
OMIM:308240 |
Eisenmenger Syndrome |
|
Ventricular tachycardia, Pedal edema, Aortopulmonary window, Supraventricular tachycardia, Hepato... |
ORPHA:97214 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hematochezia, Protein-losing enteropathy, Edema, Dehydration |
ORPHA:103910 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased proportion of naive T cells, Lymph node hypoplasia, Abnormally low T cell receptor exci... |
ORPHA:276 |
Grfoma |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Neoplasm of the thymus, Abnorm... |
ORPHA:97261 |
Middle Ear Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy |
ORPHA:100084 |
Congenital Myopathy 22B, Severe Fetal |
|
Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, High palate, Pleural effusion, Ascites |
OMIM:620369 |
Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Duodenal ulcer, Gastritis, Follicular hyperplasia, Splenomegaly, Lymphadenopathy... |
OMIM:619381 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone marrow hypoce... |
OMIM:301078 |
Lysosomal Acid Lipase Deficiency |
|
Hypersplenism, Esophageal varix, Hypovolemia, Dehydration, Hepatosplenomegaly, Hypotension, Steat... |
ORPHA:275761 |
Parenteral Nutrition-Associated Cholestasis |
|
Splenomegaly, Hepatomegaly, Villous atrophy, Portal hypertension |
ORPHA:567983 |
Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Cholangiocarcinoma, Portal hypertension, Hypersplenism, Splenomegaly... |
ORPHA:731 |
Loeys-Dietz Syndrome 3 |
|
Atrial fibrillation, Eosinophilic infiltration of the esophagus, Subarachnoid hemorrhage, Patent ... |
OMIM:613795 |
Glucagonoma |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Necrolytic migratory erythema,... |
ORPHA:97280 |
Tyrosinemia, Type I |
|
Gastrointestinal hemorrhage, Hepatomegaly, Splenomegaly, Paralytic ileus, Melena, Hepatocellular ... |
OMIM:276700 |
Primary Myelofibrosis |
|
Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Thrombocytopenia, Lymphad... |
ORPHA:824 |
Loeys-Dietz Syndrome 2 |
|
Eosinophilic infiltration of the esophagus, Patent ductus arteriosus, Cleft palate, Bifid uvula, ... |
OMIM:610168 |
Wiedemann-Rautenstrauch Syndrome |
|
Optic disc hypoplasia, Optic atrophy, Pigmentary retinopathy, Thin skin, Pulmonic stenosis, Submu... |
ORPHA:3455 |
Rhabdoid Tumor |
|
Thrombocytopenia, Anemia, Lymphadenopathy |
ORPHA:69077 |
Senior-Boichis Syndrome |
|
Portal hypertension, Esophageal varix, Hepatosplenomegaly, Hypertension, Ascites |
ORPHA:84081 |
Anaplastic Thyroid Carcinoma |
|
Goiter, Nodular goiter, Lymphadenopathy |
ORPHA:142 |
Gamma-Heavy Chain Disease |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Lymphad... |
ORPHA:100026 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Lymphade... |
ORPHA:169154 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Villous atrophy, Congestive heart failure, Esophageal carcinoma, Enterocolitis, Renovascular hype... |
ORPHA:391487 |
Ppoma |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Abnormal abdomen morphology, I... |
ORPHA:97278 |
Peripheral Primitive Neuroectodermal Tumor |
|
Ascites, Pelvic mass |
ORPHA:370348 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Lymphadenopathy, Hepatosple... |
OMIM:618935 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Pancolitis, Protein-losing enteropathy, Abnormal intestine morphology, Ile... |
OMIM:619079 |
Functioning Gonadotropic Adenoma |
|
Ascites |
ORPHA:91348 |
Wilson Disease |
|
Hepatomegaly, Edema, Splenomegaly, Esophageal varix, Pedal edema, Dysphagia, Hepatocellular carci... |
OMIM:277900 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne... |
OMIM:613179 |
Somatostatinoma |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Abnormal abdomen morphology, S... |
ORPHA:97283 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Splenomegaly, Lymphadenopathy |
ORPHA:85414 |
Vascular Hyalinosis |
|
Subarachnoid hemorrhage, Malabsorption, Hematochezia, Protein-losing enteropathy, Chorioretinal scar |
OMIM:277175 |
Roifman Syndrome |
|
Eosinophilia, Hypogonadotropic hypogonadism, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:353298 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Hepatomegaly, Hepatocellular necrosis, Acral ulceration, Hepatocellular carcinoma, Ascites |
OMIM:256810 |
Chronic Graft Versus Host Disease |
|
Esophageal ulceration, Esophageal stricture, Erythema, Xerostomia, Skin ulcer, Abnormal esophagus... |
ORPHA:99921 |
Intrahepatic Cholestasis Of Pregnancy |
|
Ascites |
ORPHA:69665 |
Nephroblastoma |
|
Lymphadenopathy |
ORPHA:654 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ... |
OMIM:618986 |
Meige Disease |
|
Lymph node hypoplasia, Absence of lymph node germinal center |
ORPHA:90186 |
Boutonneuse Fever |
|
Leukopenia, Cervical lymphadenopathy, Thrombocytopenia, Lymphadenopathy |
ORPHA:83313 |
Vascular Ehlers-Danlos Syndrome |
|
Telangiectasia of the skin, Redundant skin, Transient ischemic attack, High, narrow palate, Cysto... |
ORPHA:286 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... |
ORPHA:101096 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy |
OMIM:619183 |
Alg6-Cdg |
|
Macroglossia, Rod-cone dystrophy, Protein-losing enteropathy, Retinal degeneration |
ORPHA:79320 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Lymphadenopathy, B lymphocytopenia, Decreased proportion of memory B cel... |
OMIM:618048 |
Cyclic Neutropenia |
|
Cyclic neutropenia, Cervical lymphadenopathy, Recurrent tonsillitis, Lymphadenopathy, Decreased e... |
ORPHA:2686 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Lymphadenopathy |
ORPHA:424019 |
Sézary Syndrome |
|
Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy |
ORPHA:3162 |
Pancreatoblastoma |
|
Pancreatic calcification, Abnormal lymph node morphology |
ORPHA:677 |
Mpi-Cdg |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Edema, Protein-losing enteropathy |
ORPHA:79319 |
Lig4 Syndrome |
|
Pancytopenia, Hypoplasia of penis, Cryptorchidism, Leukocytosis, Acute leukemia, Lymphadenopathy |
ORPHA:99812 |
Roifman Syndrome |
|
Splenomegaly, Eosinophilia, Lymphadenopathy |
OMIM:616651 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Microcytic anemia, Lymphadenopathy, Hepatosplenomegaly |
OMIM:619750 |
Papa Syndrome |
|
Lymphadenopathy |
ORPHA:69126 |
Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Lymphadenopathy, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Thrombocytopenia |
OMIM:619644 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Lymphopenia |
OMIM:616100 |
Omenn Syndrome |
|
Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia |
ORPHA:39041 |
Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... |
OMIM:165550 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Recurrent intrapulmonary hemorrhage, Diffuse alveolar hemorrhage, Hemothorax, Cystocele, Arterial... |
OMIM:130050 |
Systemic Sclerosis |
|
Intestinal bleeding, Gastroesophageal reflux, Acral ulceration, Abnormal small intestine morpholo... |
ORPHA:90291 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Protein-losing enteropathy, Polyhydramnios, Lymphedema |
OMIM:618154 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Splenomegaly, Hepatomegaly, Ascites |
OMIM:301072 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Intestinal malrotation, Portal hypertension, Esophageal varix, Anasarca, Gastroesophageal reflux,... |
OMIM:613658 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Primary testicular failure, Abnormal lymph node morphology, Lymphadenopathy, Hepatosplenomegaly, ... |
ORPHA:85450 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal pseudo-obstruction, Intestinal malrotation, Pyloric stenosis, Patent ductus arteriosus... |
OMIM:300048 |
Pierson Syndrome |
|
Retinal detachment, Remnants of the hyaloid vascular system, Edema, Retinal hemorrhage, Hypertens... |
OMIM:609049 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Congestive heart failure, Ascites, Polyhydramnios |
OMIM:617156 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Lymphocytosis, Hypochromic anem... |
ORPHA:514 |
Klatskin Tumor |
|
Lymphadenopathy |
ORPHA:99978 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c... |
OMIM:120200 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Hypopituitarism, Increased T cell count, Absent peripheral lymph nodes in presence of infection, ... |
ORPHA:98813 |
Atresia Of Urethra |
|
Pulmonary insufficiency, Ascites, Oligohydramnios |
ORPHA:105 |
Macrophage Activation Syndrome |
|
Splenomegaly, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Abnormal natural killer cel... |
ORPHA:158061 |
Cutaneous Mastocytoma |
|
Lymphadenopathy |
ORPHA:79455 |
Cinca Syndrome |
|
Abnormality of neutrophils, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal granulocyte mor... |
ORPHA:1451 |
Felty Syndrome |
|
Splenomegaly, Thrombocytopenia, Lymphadenopathy, Bone marrow hypocellularity, Neutropenia, Abnorm... |
ORPHA:47612 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Lymphadenopathy |
ORPHA:411703 |
Lymphatic Filariasis |
|
Orchitis, Lymphadenitis, Abnormality of the lymphatic system, Hypereosinophilia, Vaginal hydrocel... |
ORPHA:2035 |
Diffuse Cutaneous Mastocytosis |
|
Myeloproliferative disorder, Abnormality of the spleen, Lymphocytosis, Lymphadenopathy |
ORPHA:79456 |
Melkersson-Rosenthal Syndrome |
|
Lymphadenopathy |
ORPHA:2483 |
Congenital Tracheal Stenosis |
|
Fetal ascites, Abnormal stomach morphology, Polyhydramnios, Patent ductus arteriosus, Tracheoesop... |
ORPHA:141127 |
Castleman Disease |
|
Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenopathy, Thrombocytopeni... |
ORPHA:160 |
Kaposi Sarcoma |
|
Abnormality of the spleen, Generalized lymphadenopathy |
ORPHA:33276 |
Generalized Arterial Calcification Of Infancy |
|
Choroidal neovascularization, Transient ischemic attack, Edema, Polyhydramnios, Pericardial effus... |
ORPHA:51608 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Splenomegaly, Hemolytic anemia, Thrombocytopenia, Lymphadenopathy |
ORPHA:169090 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Aortic regurgitation, Hepatomegaly, Tricuspid regurgitation, Left-to-right shunt, Cardiac arrest,... |
OMIM:619534 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
Niemann-Pick Disease Type C |
|
Hepatomegaly, Fetal ascites, Splenomegaly, Hydrops fetalis, Hepatosplenomegaly, Dysphagia, Ascites |
ORPHA:646 |
Agammaglobulinemia, X-Linked |
|
Epididymitis, Lymph node hypoplasia, T lymphocytopenia, B lymphocytopenia, Neutropenia, Prostatit... |
OMIM:300755 |
American Trypanosomiasis |
|
Splenomegaly, Lymphadenopathy |
ORPHA:3386 |
Scrub Typhus |
|
Splenomegaly, Lymphadenopathy |
ORPHA:83317 |
Congenital Enterovirus Infection |
|
Fetal ascites, Polyhydramnios, Pericardial effusion, Myocarditis, Hydrops fetalis, Cardiomyopathy... |
ORPHA:292 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne... |
ORPHA:436159 |
Adult-Onset Still Disease |
|
Neutrophilia, Generalized lymphadenopathy, Splenomegaly, Leukocytosis, Bone marrow hypocellularity |
ORPHA:829 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Leukopenia, Neutropenia, Anemia |
ORPHA:520 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Hepatomegaly, Anasarca, Ascites |
OMIM:203700 |
Cutaneous Neuroendocrine Carcinoma |
|
Lymphoid leukemia, Chronic noninfectious lymphadenopathy |
ORPHA:79140 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells, Lymphadenopathy |
OMIM:617099 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Pericardial lymphangiectasia, Nonimmune hydrops fetalis, Lymphedema, Periorbital edema, Pericardi... |
OMIM:235510 |
Atelis Syndrome 2 |
|
Remnants of the hyaloid vascular system, Patent ductus arteriosus, Supravalvar pulmonary stenosis... |
OMIM:620185 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... |
ORPHA:91495 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Malabsorption, Xerostomia, Hamartomatous polyposis, Hematochezia, Protein-losing enteropathy, Gas... |
OMIM:175500 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Absent p... |
OMIM:600802 |
Joint Contractures, Osteochondromas, And B-Cell Lymphoma |
|
Generalized lymphadenopathy |
OMIM:620232 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Abnormal dense granules, Splenomegaly, Thrombocytopeni... |
OMIM:214500 |
Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system, Cleft palate |
OMIM:257910 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Pancytopenia, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Hepatosplenomegaly, Leukopenia, He... |
OMIM:603553 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hemolytic anemia, Absence of lymph node germinal center, Splenomegaly, Enlarged tonsils, Neutrope... |
OMIM:308230 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Splenomegaly, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia |
ORPHA:540 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Splenomegaly, Lymphadenopathy, Anemia, Lymphopenia, Thrombocytopenia |
OMIM:617591 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Splenomegaly, Thrombocytopenia, Lymphadenopathy, Leukopenia, Hemophagocytosis, Anemia |
OMIM:267700 |
Immunodeficiency 55 |
|
Absent natural killer cells, Lymphopenia, Neutropenia, Lymphadenopathy |
OMIM:617827 |
Mevalonic Aciduria |
|
Normocytic hypoplastic anemia, Fluctuating splenomegaly, Thrombocytopenia, Leukocytosis, Lymphade... |
OMIM:610377 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative burst, Granulomatosis |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative burst, Granulomatosis |
OMIM:233710 |
Malt Lymphoma |
|
Mediastinal lymphadenopathy, Anemia, Lymphadenopathy |
ORPHA:52417 |
Mixed Connective Tissue Disease |
|
Hemolytic anemia, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Leukopenia |
ORPHA:809 |
Kikuchi-Fujimoto Disease |
|
Generalized lymphadenopathy, Splenomegaly, Cervical lymphadenopathy, Thrombocytopenia, Abnormal l... |
ORPHA:50918 |
Legionnaires Disease |
|
Splenomegaly, Lymphopenia, Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:549 |
Hyper-Igd Syndrome |
|
Neutrophilia, Splenomegaly, Lymphadenitis, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly |
OMIM:260920 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Follicular hyperplasia, Paratracheal lymphadenopathy, Leukopenia, Thrombocytosis, Lymphopenia, An... |
OMIM:615934 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative burst, Granulomatosis |
OMIM:233690 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Lymphadenopathy |
ORPHA:343 |
Igg4-Related Submandibular Gland Disease |
|
Eosinophilia, Prostatitis, Enlarged lacrimal glands, Abnormal pancreas morphology, Lymphadenopath... |
ORPHA:449432 |
Johanson-Blizzard Syndrome |
|
Colonic diverticula, Hepatomegaly, Portal hypertension, Malabsorption, Splenomegaly, Dilated card... |
OMIM:243800 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Aplasia of the thymus, Lymphadenopathy, T lymphocytopenia,... |
ORPHA:83471 |
Acute Generalized Exanthematous Pustulosis |
|
Neutrophilia, Eosinophilia, Leukocytosis, Lymphadenopathy, Neutropenia |
ORPHA:293173 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Splenomegaly, Lymphadenitis, Leukocytosis, Lymphadenopathy, Anemia |
OMIM:615895 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Splenomega... |
OMIM:602782 |
Niemann-Pick Disease, Type C1 |
|
Splenomegaly, Hepatomegaly, Fetal ascites, Dysphagia |
OMIM:257220 |
H Syndrome |
|
Microcytic anemia, Lymphadenopathy, Hepatosplenomegaly, Azoospermia, Hypogonadism, Micropenis, De... |
ORPHA:168569 |
Juvenile Polyposis Syndrome |
|
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Edema, Hamartomatous polyposis, ... |
ORPHA:2929 |
Familial Pancreatic Carcinoma |
|
Ovarian carcinoma, Pancreatic adenocarcinoma, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:1333 |
Acute Interstitial Pneumonia |
|
Reduced hematocrit, Lymphadenopathy |
ORPHA:79126 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Optic nerve hypoplasia, Retinal detachment, Remnants of the hyaloid vascular system, Retinal dysp... |
OMIM:614643 |
Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Remnants of the hyaloid vascular system, Cleft palate, High, narrow palate |
ORPHA:2714 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Cervical lymphadenopathy, Decreased mean platelet volume, Lymphadenopathy, Lymphocytosis, Thrombo... |
OMIM:617718 |
Niemann-Pick Disease, Type C2 |
|
Hepatomegaly, Fetal ascites, Polyhydramnios, Splenomegaly, Dysphagia |
OMIM:607625 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Pulmonary insufficiency, Nonimmune hydrops fetalis, Polyhydramnios, Intestinal malrotation, Asple... |
OMIM:265380 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Eosinophilia, Lymphocytosis, Lymphadenopathy |
ORPHA:139402 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Remnants of the hyaloid vascular system, Hyphema, Retinal nonattachment, Retinal fold, Iris coloboma |
OMIM:221900 |
Common Variable Immunodeficiency |
|
Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Lymphopenia |
ORPHA:1572 |
Autoimmune Lymphoproliferative Syndrome |
|
Reticulocytosis, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia... |
ORPHA:3261 |
Waldenström Macroglobulinemia |
|
Normocytic anemia, Abnormality of neutrophils, Splenomegaly, Lymphadenopathy, Leukemia |
ORPHA:33226 |
Pulmonary Capillary Hemangiomatosis |
|
Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:199241 |
Graft Versus Host Disease |
|
Hemophagocytosis, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:39812 |
Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, High, narrow palate, Patent ductus arteriosus, Rectal prolapse, Aden... |
ORPHA:79076 |
Chédiak-Higashi Syndrome |
|
Abnormal leukocyte morphology, Pancytopenia, Splenomegaly, Thrombocytopenia, Vacuolated lymphocyt... |
ORPHA:167 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Pancytopenia, Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Leukopenia, Bone m... |
OMIM:615688 |
Tangier Disease |
|
Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Hepatosplenomegaly, Anemia, Thr... |
ORPHA:31150 |
Neuroendocrine Tumor Of The Colon |
|
Chronic noninfectious lymphadenopathy |
ORPHA:100080 |
Selective Igm Deficiency |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Lymphadenitis, Decreas... |
ORPHA:331235 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Autoimmune thrombocytopenia, Lymphadenopathy, T lymphocytopenia, Neutropenia, Lymphopenia |
OMIM:607944 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Neutropenia in presence o... |
ORPHA:37042 |
Acromelic Frontonasal Dysostosis |
|
Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Cleft palate |
OMIM:603671 |
Cherubism |
|
Submandibular lymph node enlargement |
OMIM:118400 |
Q Fever |
|
Splenomegaly, Lymphadenopathy, Anemia, Hepatosplenomegaly, Thrombocytopenia |
ORPHA:781 |
Malakoplakia |
|
Orchitis, Prostate neoplasm, Follicular hyperplasia |
ORPHA:556 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Splenomegaly, Lymphadenopathy, Polysplenia, Anemia |
OMIM:619418 |
Multiple Myeloma |
|
Splenomegaly, Anemia, Lymphadenopathy |
ORPHA:29073 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Orchitis, Splenomegaly, Leukocytosis, Lymphadenopathy |
ORPHA:32960 |
D-Bifunctional Protein Deficiency |
|
Hepatomegaly, Fetal ascites, Polyhydramnios, Splenomegaly, High palate |
OMIM:261515 |
Full Nf2-Related Schwannomatosis |
|
Remnants of the hyaloid vascular system, Retinal hamartoma, Epiretinal membrane, Abnormal optic n... |
ORPHA:637 |
Adenocarcinoma Of The Anal Canal |
|
Lymphadenopathy |
ORPHA:424016 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Enlarged lacrimal glands, Lymphadenopathy, Enlargement of parotid gland, Nodular goiter, Abnormal... |
ORPHA:79078 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Lymphadenopathy, Anemia, Hepatosplenomegaly |
ORPHA:85408 |
Coccidioidomycosis |
|
Abnormal sperm morphology, Eosinophilia, Abnormality of the spleen, Mediastinal lymphadenopathy, ... |
ORPHA:228123 |
Microphthalmia, Syndromic 2 |
|
Retinal detachment, Remnants of the hyaloid vascular system, Patent ductus arteriosus, Submucous ... |
OMIM:300166 |
Brucellosis |
|
Hypersplenism, Splenomegaly, Leukocytosis, Thrombocytopenia, Orchitis, Epididymitis, Lymphadenopa... |
ORPHA:1304 |
Igg4-Related Ophthalmic Disease |
|
Eosinophilia, Orchitis, Abnormality of the anterior pituitary, Enlarged lacrimal glands, Lymphade... |
ORPHA:449563 |
Sarcoidosis |
|
Hemolytic anemia, Parotitis, Eosinophilia, Abnormal reproductive system morphology, Thrombocytope... |
ORPHA:797 |
Ileal Neuroendocrine Tumor |
|
Iron deficiency anemia, Lymphadenopathy |
ORPHA:100078 |
Multiple Endocrine Neoplasia Type 2 |
|
Cervical neoplasm, Thyroid C cell hyperplasia, Cervical lymphadenopathy, Primary hyperparathyroid... |
ORPHA:653 |
Neuroendocrine Neoplasm Of Appendix |
|
Ovarian neoplasm, Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone excess |
ORPHA:100079 |
Systemic Lupus Erythematosus |
|
Leukopenia, Hemolytic anemia, Thrombocytopenia, Lymphadenopathy |
ORPHA:536 |
Holoprosencephaly 2 |
|
Remnants of the hyaloid vascular system, Submucous cleft hard palate, Bilateral cleft lip and pal... |
OMIM:157170 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Vaginal dryness, Thrombocytopenia, Lymphadenopathy, Leukopenia, Normochromic a... |
ORPHA:289390 |
Sarcoidosis, Susceptibility To, 1 |
|
Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Mediastinal lymphadenopathy, Enlarged la... |
OMIM:181000 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Pancreatic adenocarcinoma, Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell a... |
ORPHA:99889 |
Autosomal Recessive Malignant Osteopetrosis |
|
Splenomegaly, Anemia, Lymphadenopathy |
ORPHA:667 |
Marburg Hemorrhagic Fever |
|
Lymphopenia, Reticulocytosis, Orchitis, Neutrophilia in presence of infection, Lymphadenopathy, L... |
ORPHA:99826 |
Neuroocular Syndrome |
|
Hypoplasia of the fovea, Remnants of the hyaloid vascular system, Short uvula, Lens coloboma, Sub... |
OMIM:619539 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Cleft soft palate, Fetal ascites, Portal hypertension, Erythema, Esophageal varix, Hepatosplenome... |
OMIM:619503 |
Behçet Disease |
|
Orchitis, Splenomegaly, Lymphadenopathy |
ORPHA:117 |
Norrie Disease |
|
Retinal detachment, Abnormal chorioretinal morphology, Remnants of the hyaloid vascular system, A... |
ORPHA:649 |
Chikungunya |
|
Cervical lymphadenopathy, Lymphadenopathy |
ORPHA:324625 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Parotitis, Microcytic anemia, Splenomegaly, Epididymitis, Lymphadenopathy, Thrombocytopenia |
OMIM:256040 |
Igg4-Related Kidney Disease |
|
Eosinophilia, Lymphadenitis, Abnormality of the anterior pituitary, Lymphadenopathy, Sialadenitis... |
ORPHA:449395 |
Whim Syndrome |
|
Lymphadenitis, Abnormal small intestine morphology, Parotitis |
ORPHA:51636 |
Blau Syndrome |
|
Splenomegaly, Abnormal salivary gland morphology, Anemia, Lymphadenopathy |
ORPHA:90340 |
Faundes-Banka Syndrome |
|
Cleft palate, Gastroesophageal reflux, Fetal ascites, Dysphagia |
OMIM:619376 |
Fraser Syndrome 1 |
|
Abnormal small intestine morphology, Abnormal thymus morphology, Cleft palate, Abnormality of the... |
OMIM:219000 |
African Trypanosomiasis |
|
Splenomegaly, Hepatosplenomegaly, Abnormal prolactin level, Lymphadenopathy |
ORPHA:3385 |
Leptospirosis |
|
Thrombocytopenia, Lymphadenopathy |
ORPHA:509 |
Lymphatic Malformation 10 |
|
Lymphedema |
OMIM:619369 |
Milroy Disease |
|
Predominantly lower limb lymphedema, Pedal edema, Lymphedema |
ORPHA:79452 |