Cephalin Lipidosis |
|
Abnormality of the spleen |
OMIM:212800 |
Immunodeficiency 32A |
|
Lymphadenopathy |
OMIM:614893 |
Tuftsin Deficiency |
|
Abnormality of the spleen |
OMIM:191150 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormality of the lymph nodes |
OMIM:136580 |
Reticuloendotheliosis, X-Linked |
|
Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice |
OMIM:312500 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Abnormality of the liver, Absence of lymph node germinal center |
OMIM:235550 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Fetal Cytomegalovirus Syndrome |
|
Anemia, Hepatomegaly, Splenomegaly |
ORPHA:294 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99977 |
Ichthyosis, Hepatosplenomegaly, And Cerebellar Degeneration |
|
Hepatosplenomegaly |
OMIM:242520 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Follicular hyperplasia, Mediastinal lymphadenopathy, Plasmacytosis |
ORPHA:60026 |
Immunodeficiency 75 |
|
Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Follicular hyperplasia... |
OMIM:619126 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly |
OMIM:183350 |
Hemoglobin H Disease |
|
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly |
OMIM:206400 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly |
ORPHA:46532 |
Kerion Celsi |
|
Lymphadenopathy |
ORPHA:499 |
Ceroid storage disease |
|
Abnormality of the spleen |
OMIM:214200 |
Immunodeficiency 16 |
|
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly |
OMIM:615593 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy |
OMIM:618852 |
Immunodeficiency 7 |
|
Lymphadenopathy, Hypereosinophilia |
OMIM:615387 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy |
ORPHA:66661 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly |
OMIM:619813 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... |
ORPHA:444463 |
Kimura Disease |
|
Eosinophilia, Follicular hyperplasia, Lymphadenopathy |
ORPHA:482 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Splenomegaly |
OMIM:619175 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... |
OMIM:603902 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly |
ORPHA:231393 |
Immunodeficiency 104 |
|
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly |
OMIM:608971 |
Red Cell Phospholipid Defect With Hemolysis |
|
Reticulocytosis, Intermittent jaundice, Splenomegaly |
OMIM:179700 |
Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Leukemia, Acute myeloid leukemia, Erythroid... |
OMIM:133180 |
Hyperbilirubinemia, Shunt, Primary |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... |
OMIM:237800 |
Adenocarcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99976 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Splenomegaly |
OMIM:614480 |
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
|
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... |
OMIM:206000 |
Immunodeficiency 84 |
|
B lymphocytopenia, Splenomegaly |
OMIM:619437 |
Immunodeficiency 76 |
|
Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Lymphadenopathy |
OMIM:619164 |
Tyrosinemia Type 1 |
|
Hepatocellular carcinoma, Hepatomegaly, Splenomegaly |
ORPHA:882 |
Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Lymphadenopathy, Reduced natural killer cell count |
OMIM:618261 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:86893 |
Portal Hypertension, Noncirrhotic, 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:617068 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Lymphadenopathy |
OMIM:617772 |
Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Follicular Lymphoma |
|
Abnormality of the peritoneum, Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly |
ORPHA:545 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... |
OMIM:615285 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Abnormal B cell count, Anemia, Lymphadenopathy |
ORPHA:100024 |
Immunodeficiency 14A, Autosomal Dominant |
|
Splenomegaly, T lymphocytopenia, Decreased proportion of class-switched memory B cells, Increased... |
OMIM:615513 |
Fish-Eye Disease |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:79292 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Cervical lymphadenopathy, Abnormally low T cell receptor excision circle level, B lymphocytopenia |
OMIM:618987 |
Carcinoma Of Esophagus |
|
Lymphadenopathy |
ORPHA:70482 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Lymphopenia, Follicular hyperplasia, Autoimmune thrombocytopenia, Decreased proportion of class-s... |
OMIM:619846 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reticulocytosis, Jaundice |
OMIM:224100 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... |
OMIM:619220 |
Encephalopathy Due To Prosaposin Deficiency |
|
Hepatomegaly, Splenomegaly |
ORPHA:139406 |
Trimethylaminuria |
|
Anemia, Neutropenia, Splenomegaly |
OMIM:602079 |
Felty Syndrome |
|
Neutropenia, Splenomegaly |
OMIM:134750 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly |
ORPHA:228312 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... |
OMIM:617514 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Anemia, Lymphadenopathy, Ascites |
ORPHA:100025 |
Sea-Blue Histiocyte Disease |
|
Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly |
OMIM:269600 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia, Lymphadenopa... |
OMIM:603552 |
Burkitt Lymphoma |
|
Abnormality of the lymph nodes, Abnormality of the spleen, Abnormality of the pancreas, Decreased... |
ORPHA:543 |
Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly |
OMIM:607685 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Lymphadenopathy |
OMIM:605258 |
Immunodeficiency 72 With Autoinflammation |
|
Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells, Increased B cell count |
OMIM:618982 |
Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:98293 |
Splenoportal Vascular Anomalies |
|
Splenomegaly, Cirrhosis, Hepatic fibrosis, Ascites, Anomalous splenoportal venous system |
OMIM:271500 |
Alpha-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J... |
ORPHA:846 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Lymphocytosis, Splenomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia, M... |
OMIM:614470 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Leukocytosis, Abnormality of the lymph nodes, Splenomegaly, Extramedullary hematopo... |
OMIM:612840 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Splenomegaly |
OMIM:616452 |
Asplenia, Isolated Congenital |
|
Thrombocytosis, Asplenia, Howell-Jolly bodies |
OMIM:271400 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Anemia, Lymphadenopathy |
OMIM:613101 |
Spherocytosis, Type 5 |
|
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... |
OMIM:612690 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly |
OMIM:269840 |
Pfapa Syndrome |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:42642 |
Cryohydrocytosis |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly |
OMIM:185020 |
Immunodeficiency 27B |
|
Generalized lymphadenopathy |
OMIM:615978 |
Immunodeficiency 69 |
|
Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia |
OMIM:618963 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n... |
OMIM:212050 |
Thrombocythemia 1 |
|
Thrombocytosis, Splenomegaly |
OMIM:187950 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Lymphadenopathy |
OMIM:608106 |
Immunodeficiency 105 |
|
Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, Absence of lymph node germinal center, T lymp... |
OMIM:619924 |
Neonatal Severe Primary Hyperparathyroidism |
|
Hepatomegaly, Splenomegaly |
ORPHA:417 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Poikilocytosis, Anemia |
OMIM:615234 |
Immunodeficiency 64 |
|
Splenomegaly, Cervical lymphadenopathy, Increased proportion autoreactive unresponsive CD21-/low ... |
OMIM:618534 |
Galactose Epimerase Deficiency |
|
Hepatomegaly, Jaundice, Splenomegaly |
ORPHA:79238 |
Granulomatous Slack Skin |
|
Abnormality of the lymph nodes |
ORPHA:33111 |
Gray Platelet Syndrome |
|
Thrombocytopenia, Splenomegaly |
ORPHA:721 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Splenomegaly, Mediastinal lymphadenopathy, Autoimmune thrombocytopenia, Decreased proportion of C... |
OMIM:300853 |
Rosaï-Dorfman Disease |
|
Anemia, Lymphadenopathy |
ORPHA:158014 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Absence of lymph node germinal center |
OMIM:608184 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly |
OMIM:617441 |
Nephronophthisis 19 |
|
Hepatomegaly, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferation |
OMIM:616217 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Absence of lymph node germinal center, Neutropenia |
OMIM:606843 |
Indolent Systemic Mastocytosis |
|
Abnormal mast cell morphology, Hepatomegaly, Splenomegaly, Mastocytosis, Increased proportion of ... |
ORPHA:98848 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocytopenia, Decrea... |
OMIM:619375 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Chronic noninfectious lymphadenopathy, Abnormality of the lymph nodes |
ORPHA:97290 |
Cold Agglutinin Disease |
|
Hemolytic anemia, Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:56425 |
Galactosemia Iii |
|
Hepatomegaly, Jaundice, Splenomegaly |
OMIM:230350 |
Immunodeficiency 27A |
|
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Th... |
OMIM:209950 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Decreased CD4:CD8 ratio |
OMIM:618495 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Lymphopenia, Aplasia of the thymus, Splenomegaly, Abnormally low T cell receptor ex... |
OMIM:602450 |
Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
Immunodeficiency 32B |
|
Splenomegaly |
OMIM:226990 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Chronic noninfectious lymphadenopathy, Abnormality of the lymph nodes |
ORPHA:319487 |
Elliptocytosis 1 |
|
Hemolytic anemia, Elliptocytosis, Jaundice, Splenomegaly |
OMIM:611804 |
Erythrocytosis, Familial, 8 |
|
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, C... |
OMIM:222800 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis... |
OMIM:615631 |
Ghosal Hematodiaphyseal Dysplasia |
|
Anemia, Splenomegaly |
ORPHA:1802 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Jaundice, Cholestasis, Splenomegaly |
OMIM:620010 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Splenomegaly, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD4:CD8 rat... |
OMIM:150550 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia |
ORPHA:231401 |
Schnitzler Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy |
ORPHA:37748 |
Spherocytosis, Type 4 |
|
Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice |
OMIM:612653 |
Immunodeficiency, Common Variable, 2 |
|
Follicular hyperplasia, Hepatomegaly, Lymphadenopathy, Splenomegaly |
OMIM:240500 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Hepatomegaly, Splenomegaly, Increased proportion autoreactive unresponsive CD21-/low B cells, Hep... |
OMIM:615559 |
Combined Saposin Deficiency |
|
Hepatomegaly, Splenomegaly |
OMIM:611721 |
Klatskin Tumor |
|
Cholangiocarcinoma, Hepatomegaly, Extrahepatic cholestasis, Lymphadenopathy, Jaundice |
ORPHA:99978 |
Immunodeficiency, Common Variable, 1 |
|
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Splenomegaly, B lymphocytopen... |
OMIM:607594 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Lymphadenopathy, Leukocytosis, Splenomegaly |
OMIM:611762 |
Pseudomyxoma Peritonei |
|
Lymphadenopathy, Ascites, Abnormality of the peritoneum |
ORPHA:26790 |
Sandhoff Disease |
|
Hepatomegaly, Splenomegaly |
ORPHA:796 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Neonatal cholestatic liver dise... |
ORPHA:79301 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatic fibrosis, Hepatomegaly, Splenomegaly |
OMIM:616719 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Micronodular cirrhosis, Jaundice, Splenomegaly, Malformation of the hepatic ductal ... |
OMIM:619849 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis, Jaundice |
OMIM:185000 |
Mycosis Fungoides |
|
Lymphadenopathy |
OMIM:254400 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Splenomegaly, Cholestasis, Hepatic bridging fibrosis, Hepatic fibrosis, Jaundice |
OMIM:619658 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatosple... |
OMIM:616860 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Aplastic anemia, Pancytopenia, ... |
OMIM:615122 |
Laryngeal Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy |
ORPHA:100083 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia, Hypersplenism |
OMIM:610539 |
Classic Mycosis Fungoides |
|
Abnormal lymphocyte morphology, Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:2584 |
Spherocytosis, Type 1 |
|
Cholelithiasis, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice |
OMIM:182900 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Jaundice, Cholestasis, Splenomegaly |
ORPHA:172 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Hepatomegaly, Splenomegaly, Anisopoikilocytosis, Acanthocytosi... |
OMIM:616689 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Normocytic anemia, Cholecystitis, ... |
OMIM:235700 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Spherocytosis, Splenomegaly |
ORPHA:66518 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Pancytopenia, Splenomegaly |
OMIM:614979 |
Osteopetrosis, Autosomal Recessive 8 |
|
Anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly |
OMIM:615085 |
Omenn Syndrome |
|
Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B l... |
OMIM:603554 |
Spherocytosis, Type 2 |
|
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Reticulocytosis, Jaundice |
OMIM:616649 |
Sea-Blue Histiocytosis |
|
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Thrombocytopenia |
ORPHA:158029 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lymphopenia, B lymphocytopenia, Absence of lymph node germinal center, T lymphocytopenia, Absent ... |
ORPHA:277 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Jaundice |
OMIM:214900 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic fibrosis, Anemia |
OMIM:613313 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Hemophagocytosis, Splenomegaly, Pancytopenia, Neutropenia, Lymphadenopathy, Jaundice |
ORPHA:79477 |
Overhydrated Hereditary Stomatocytosis |
|
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... |
ORPHA:3203 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Neutrophilia, Abnormality of the lymph nodes, Abnormality of the lymphatic system, Abnormality of... |
ORPHA:54251 |
Caspase 8 Deficiency |
|
Lymphadenopathy, Decreased CD4:CD8 ratio, Splenomegaly |
OMIM:607271 |
Autoimmune Lymphoproliferative Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... |
OMIM:601859 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... |
ORPHA:766 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Thrombocytopenia, Ascites, Anemia, Lymphadenopathy, Jaundice, Cardiomegaly |
ORPHA:858 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Splenomegaly, Iron deficiency anemia, Hepatic fibrosis, Portal hypertension, Portal... |
OMIM:616278 |
Amyloidosis, Familial Visceral |
|
Hepatomegaly, Cholestasis, Splenomegaly |
OMIM:105200 |
Immunodeficiency 54 |
|
Lymphadenopathy, Hepatomegaly, Reduced natural killer cell count, Splenomegaly |
OMIM:609981 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly |
ORPHA:664 |
X-Linked Sideroblastic Anemia |
|
Anemia, Splenomegaly |
ORPHA:75563 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Bone-marrow foam cells |
OMIM:607616 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Intrahepatic cholestasis, Bile duct proliferation, Portal ... |
OMIM:602347 |
Chronic Myeloid Leukemia |
|
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... |
ORPHA:521 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... |
ORPHA:231154 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Splenomegaly |
OMIM:619183 |
Classic Hodgkin Lymphoma |
|
Bone marrow hypocellularity, Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:391 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:85414 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal macrophage morphology, ... |
ORPHA:2585 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Splenomegaly, Portal fibrosis, Jaundice, Acholic stools |
OMIM:619868 |
Dysplastic Cortical Hyperostosis |
|
Hepatomegaly, Splenomegaly |
ORPHA:2204 |
Leishmaniasis |
|
Hepatomegaly, Splenomegaly, Leukopenia, Abnormal macrophage morphology, Thrombocytopenia, Pancyto... |
ORPHA:507 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Lymphadenopathy, Lymphocytosis, Decreased mean platelet volume, Thrombocytopenia |
OMIM:617718 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia, Agranulocytosi... |
OMIM:301078 |
Pleural Mesothelioma |
|
Lymphadenopathy, Hepatomegaly |
ORPHA:50251 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Abnormality of the lymphatic system, Biliary tract abnorma... |
ORPHA:1414 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly |
OMIM:314050 |
Alpha-1-Antitrypsin Deficiency |
|
Cirrhosis, Hepatocellular carcinoma, Splenomegaly |
OMIM:613490 |
Heme Oxygenase 1 Deficiency |
|
Hepatomegaly, Coombs-positive hemolytic anemia, Cervical lymphadenopathy, Hemolytic anemia, Throm... |
OMIM:614034 |
Cholesteryl Ester Storage Disease |
|
Cirrhosis, Hepatomegaly, Jaundice, Splenomegaly |
ORPHA:75234 |
Coproporphyria, Hereditary |
|
Hepatomegaly, Jaundice, Splenomegaly |
OMIM:121300 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Thrombocytopenia, Abnormal... |
ORPHA:3226 |
Gaucher Disease Type 2 |
|
Hepatomegaly, Splenomegaly |
ORPHA:77260 |
Primary Myelofibrosis |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Throm... |
ORPHA:824 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Hepatomegaly, Lymphocytosis, Hemophagocytosis, Splenomegaly, Fulminant hepatitis, Ap... |
OMIM:308240 |
Glut1 Deficiency Syndrome 2 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly |
OMIM:612126 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Spontaneous hemolytic crises, Impa... |
OMIM:613470 |
Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Granulocytopenia, Hepatomegaly, Neutropenia, Leukocytosis, Splen... |
ORPHA:75564 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Anemia, Autoimmune thrombocytopenia, Thrombocytopenia, Autoimmune hem... |
ORPHA:100026 |
Osteopetrosis, Autosomal Recessive 4 |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Anemia, Thrombocytopenia |
OMIM:611490 |
Cinca Syndrome |
|
Leukocytosis, Eosinophilia, Hepatosplenomegaly, Anemia, Lymphadenopathy |
OMIM:607115 |
Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... |
OMIM:263300 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Hepatomegaly, Mediastinal lymphadenopathy, Abnormality of the peritoneu... |
ORPHA:83469 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Splenomegaly, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia, Decreased ... |
OMIM:613011 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... |
OMIM:603909 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Cholestatic liver disease, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatosplenomegaly, Prolonged n... |
OMIM:616828 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatosplenomegaly, Hepatic steatosis, Hepatomegaly, Splenomegaly |
OMIM:612526 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Hepatomegaly, Splenomegaly |
OMIM:608540 |
Myelofibrosis |
|
Myeloproliferative disorder, Splenomegaly |
OMIM:254450 |
Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Lymphadenopathy, Thrombocytopenia |
OMIM:612783 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, ... |
OMIM:619463 |
Solute carrier family 4 (anion exchanger), member 1 |
|
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis, Stomatocytosis, Re... |
OMIM:109270 |
Harderoporphyria |
|
Hepatomegaly, Splenomegaly, Hemolytic anemia, Prolonged neonatal jaundice, Reticulocytosis |
OMIM:618892 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Lymphopenia, Recurrent tonsillitis, Splenomegaly, Hepatosplenomegaly, Lymphadenitis, Acute pancre... |
OMIM:618935 |
Aicardi-Goutieres Syndrome 4 |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia |
OMIM:610333 |
Middle Ear Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy |
ORPHA:100084 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Decreased hemoglobin concentration, Cholecystitis, Ch... |
OMIM:266200 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Hemophagocytosis, Splenomegaly, Aplastic anemia, Hepatitis, Pancytopenia |
OMIM:300635 |
Osteopetrosis, Autosomal Dominant 3 |
|
Anemia, Hepatomegaly, Splenomegaly |
OMIM:618107 |
Nephroblastoma |
|
Neoplasm of the liver, Lymphadenopathy |
ORPHA:654 |
Hurler-Scheie Syndrome |
|
Abnormality of the tonsils, Hepatomegaly, Splenomegaly |
ORPHA:93476 |
Griscelli Syndrome |
|
Hepatomegaly, Splenomegaly, Leukopenia, Thrombocytopenia, Abnormality of neutrophils, Hepatitis, ... |
ORPHA:381 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphocytosis, Abnormality of the lymph nodes, Hepatosplenomegaly, Lymphadenitis, Eosinophilia, A... |
ORPHA:911 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Splenomegaly, Cholestasis, Portal hypertension, Jaundice |
ORPHA:59303 |
Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit, Splenomegaly |
OMIM:133100 |
Macrocephaly/Autism Syndrome |
|
Lymphopenia, Hepatomegaly, Splenomegaly |
OMIM:605309 |
Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Splenomegaly |
OMIM:306000 |
Sézary Syndrome |
|
Abnormal lymphocyte morphology, Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:3162 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Sclerosing cholangitis, Cholestasis, Ductal bile plugs, He... |
OMIM:617394 |
Gaucher Disease, Type Iii |
|
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly |
OMIM:231000 |
Hemochromatosis, Type 2A |
|
Cirrhosis, Hepatomegaly, Splenomegaly |
OMIM:602390 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased proportion of naive T cells, Hepatomegaly, Lymphopenia, Abnormally low T cell receptor ... |
ORPHA:276 |
Niemann-Pick Disease, Type A |
|
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Microcytic anemia, Bone-marrow foam cells, Pr... |
OMIM:257200 |
Immunodeficiency 97 With Autoinflammation |
|
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hemophagocytosis, Splenomegaly... |
OMIM:619802 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatitis, Intrahepatic cholestasis, Jaundice, Acholic stools |
OMIM:613812 |
Hb Bart'S Hydrops Fetalis |
|
Anemia, Abnormal hemoglobin, Hepatomegaly, Splenomegaly |
ORPHA:163596 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Increased red cell hemolysis by shear stress, Increas... |
OMIM:194380 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Intrahepatic cholestasis, Interm... |
OMIM:601847 |
Aggressive Systemic Mastocytosis |
|
Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenomegaly, Thrombocytopenia, I... |
ORPHA:98850 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Leukocytosis, Splenomegaly |
OMIM:618042 |
Beta-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Hepatitis, Microcytic anemia, An... |
ORPHA:848 |
Mevalonic Aciduria |
|
Splenomegaly |
ORPHA:29 |
Tularemia |
|
Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Cervical lymphadenopathy, Mediastinal l... |
ORPHA:3392 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia... |
OMIM:616100 |
Rhabdoid Tumor |
|
Anemia, Lymphadenopathy, Neoplasm of the liver, Thrombocytopenia |
ORPHA:69077 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Neoplasm of the liver, Lymphadenopathy |
ORPHA:424019 |
Pancreatoblastoma |
|
Pancreatic calcification, Jaundice, Abnormality of the lymph nodes |
ORPHA:677 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Anemia, Ascites, Splenomegaly |
ORPHA:1046 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Anemia of inadequate production, Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, A... |
OMIM:612714 |
Purine Nucleoside Phosphorylase Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Splenomegaly, Autoimmune throm... |
OMIM:613179 |
Omenn Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Eosinophilia, Abnormal lymphocyte morphology, Anemia, L... |
ORPHA:39041 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Lymphopenia, Lymphocytosis, Hepatosplenomegaly, Eosinophilia, Autoimmune thrombocytopenia, T lymp... |
ORPHA:169154 |
Hepatoportal Sclerosis |
|
Abnormal liver parenchyma morphology, Intrahepatic portal vein sclerosis, Abnormality of the hepa... |
ORPHA:64743 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Bile duct proliferation |
OMIM:613027 |
Wolman Disease |
|
Hepatomegaly, Splenomegaly, Anemia, Bone-marrow foam cells, Ascites |
ORPHA:75233 |
Macrophage Activation Syndrome |
|
Neutropenia, Hepatomegaly, Hemophagocytosis, Splenomegaly, Thrombocytopenia, Hepatitis, Abnormal ... |
ORPHA:158061 |
Immunodeficiency, Common Variable, 7 |
|
Splenomegaly |
OMIM:614699 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Neutropenia, Lymphopenia, Abnormally low T cell receptor excision circle level, Lymphadenitis, He... |
OMIM:618986 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Anemia, Hemophagocytosis, Splenomegaly |
OMIM:618398 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatomegaly, Jaundice, Intrahepatic cholestasis, Splenomegaly |
OMIM:235555 |
Roifman Syndrome |
|
Eosinophilia, Lymphadenopathy, Hepatomegaly, Splenomegaly |
OMIM:616651 |
Gaucher Disease, Type Ii |
|
Anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly |
OMIM:230900 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hepatomegaly, Splenomegaly, Hemolytic anemia, Thrombocytopenia, Lymphadenopathy |
ORPHA:169090 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Splenomegaly |
ORPHA:90037 |
Diffuse Cutaneous Mastocytosis |
|
Hepatomegaly, Lymphocytosis, Myeloproliferative disorder, Abnormality of the spleen, Lymphadenopa... |
ORPHA:79456 |
Thyroid Lymphoma |
|
Lymphadenopathy |
ORPHA:97285 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Splenomegaly, Heinz bodies, Anisocytosis, Poikilocytosis, Fava bean-induced hemolyt... |
OMIM:300908 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Splenomegaly, B Acute Lymphoblast... |
OMIM:619824 |
Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Monocytosis, Thrombocytopenia, ... |
OMIM:619644 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Cirrhosis, Jaundice, Intrahepatic cholestasis with ep... |
OMIM:211600 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anisocytosis, Schistocytosis, Hemoly... |
OMIM:224120 |
Kaposi Sarcoma |
|
Generalized lymphadenopathy, Abnormality of the spleen, Abnormality of the liver |
ORPHA:33276 |
Cyclic Neutropenia |
|
Lymphopenia, Recurrent tonsillitis, Cervical lymphadenopathy, Peritonitis, Thrombocytopenia, Cycl... |
ORPHA:2686 |
Meige Disease |
|
Lymph node hypoplasia, Absence of lymph node germinal center |
ORPHA:90186 |
American Trypanosomiasis |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:3386 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Hepatosplenomegaly, Lymphadenopathy, Microcytic anemia |
OMIM:619750 |
Acquired Hypertrichosis Lanuginosa |
|
Lymphadenopathy |
ORPHA:2221 |
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Lymphadenopathy |
ORPHA:69126 |
Adult-Onset Still Disease |
|
Hepatomegaly, Neutrophilia, Leukocytosis, Splenomegaly, Generalized lymphadenopathy, Hepatitis, B... |
ORPHA:829 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hemolytic anemia, Hepatomegaly, Jaundice, Splenomegaly |
OMIM:608885 |
Medullary Thyroid Carcinoma |
|
Lymphadenopathy, Abnormal liver parenchyma morphology |
ORPHA:1332 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Hepatomegaly, Splenomegaly, Lymphadenitis, Granulomatosis, Impaired oxidative burst, Lymphadenopa... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Hepatomegaly, Splenomegaly, Lymphadenitis, Granulomatosis, Impaired oxidative burst, Lymphadenopa... |
OMIM:233710 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Pancreatitis, Hepatomegaly, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia |
ORPHA:79312 |
Fetal Gaucher Disease |
|
Hepatomegaly, Splenomegaly, Abnormality of the spleen, Pancytopenia, Thrombocytopenia |
ORPHA:85212 |
Apolipoprotein C-Ii Deficiency |
|
Pancreatitis, Hepatomegaly, Splenomegaly |
OMIM:207750 |
Felty Syndrome |
|
Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Thrombocytopenia, Neutropenia, Bone m... |
ORPHA:47612 |
Roifman Syndrome |
|
Eosinophilia, Hepatosplenomegaly, Lymphadenopathy |
ORPHA:353298 |
Aregenerative Anemia |
|
Abnormal proportion of CD8-positive T cells, Neutropenia, Thrombocytopenia, Erythroid hypoplasia,... |
ORPHA:101096 |
Cinca Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Abnormal granulocyte morphology, Abnormality of neutrop... |
ORPHA:1451 |
Congenital Pulmonary Lymphangiectasia |
|
Ascites, Hepatomegaly, Splenomegaly |
ORPHA:2414 |
Autoimmune Hemolytic Anemia |
|
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly |
ORPHA:98375 |
Boutonneuse Fever |
|
Cervical lymphadenopathy, Leukopenia, Lymphadenopathy, Thrombocytopenia |
ORPHA:83313 |
Acute Panmyelosis With Myelofibrosis |
|
Lymphocytosis, Acute myelomonocytic leukemia, Splenomegaly, Pancytopenia, Bone marrow hypocellula... |
ORPHA:86843 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
B lymphocytopenia, Increased CD4:CD8 ratio, Decreased proportion of memory B cells, Thrombocytope... |
OMIM:618048 |
Lysosomal Acid Lipase Deficiency |
|
Hepatomegaly, Periportal fibrosis, Splenomegaly, Cirrhosis, Hepatosplenomegaly, Leukopenia, Throm... |
OMIM:278000 |
Budd-Chiari Syndrome |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Peritonitis, Cholecystitis, Portal hypertension, Ascites, ... |
ORPHA:131 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Giant cell hepatitis, Hepatomegaly, Splenomegaly, Cirrhosis, Intrahepatic cholestasis, Jaundice, ... |
OMIM:607765 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Hepatomegaly, Splenomegaly, Lymphadenitis, Granulomatosis, Impaired oxidative burst, Lymphadenopa... |
OMIM:233690 |
Adams-Oliver Syndrome 6 |
|
Hepatic fibrosis, Portal hypertension, Splenomegaly |
OMIM:616589 |
Immunodeficiency 36 |
|
Lymphopenia, Enlarged tonsils, Splenomegaly, B lymphocytopenia, Chronic lymphatic leukemia, Decre... |
OMIM:616005 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Enlarged tonsils, Splenomegaly, Cirrhosis, Chronic hepatitis, Sclerosing cholangiti... |
OMIM:308230 |
Farber Lipogranulomatosis |
|
Hepatomegaly, Lipogranulomatosis, Splenomegaly |
OMIM:228000 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Neutropenia, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Hepatocellular carcinoma, Thromb... |
ORPHA:158057 |
Scrub Typhus |
|
Lymphadenopathy, Splenomegaly |
ORPHA:83317 |
Melkersson-Rosenthal Syndrome |
|
Lymphadenopathy |
ORPHA:2483 |
Familial Pancreatic Carcinoma |
|
Pancreatic adenocarcinoma, Exocrine pancreatic insufficiency, Neoplasm of the liver, Extrahepatic... |
ORPHA:1333 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Coombs-positive hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, He... |
OMIM:304790 |
Acute Monoblastic/Monocytic Leukemia |
|
Lymphocytosis, Leukocytosis, Hypochromic anemia, Cervical lymphadenopathy, Acute monocytic leukem... |
ORPHA:514 |
Castleman Disease |
|
Decreased mean corpuscular volume, Follicular hyperplasia, Mediastinal lymphadenopathy, Thrombocy... |
ORPHA:160 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Lymphopenia, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Lymphadenopathy |
OMIM:617591 |
Dehydrated Hereditary Stomatocytosis |
|
Cholelithiasis, Anemia of inadequate production, Increased mean corpuscular volume, Nonspherocyti... |
ORPHA:3202 |
Infantile Liver Failure Syndrome 3 |
|
Hepatomegaly, Splenomegaly, Cholestasis, Hepatic bridging fibrosis, Hepatic steatosis, Jaundice |
OMIM:618641 |
Sarcoidosis, Susceptibility To, 2 |
|
Mediastinal lymphadenopathy, Hepatomegaly, Splenomegaly |
OMIM:612387 |
Hereditary Elliptocytosis |
|
Cholelithiasis, Stomatocytosis, Splenomegaly, Hemolytic anemia, Poikilocytosis, Congenital hemoly... |
ORPHA:288 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatomegaly, Hepatosplenomegaly, Absence of lymph node germinal center, T lymphocytopenia, Abnor... |
ORPHA:79124 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Splenomegal... |
OMIM:613673 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Stomatocytosis, Splenomegaly |
OMIM:153670 |
Essential Thrombocythemia |
|
Acute leukemia, Abnormal platelet morphology, Splenomegaly |
ORPHA:3318 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Lymphadenopathy |
ORPHA:411703 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Abnormal mast cell morphology, Hepatomegaly, Neutrophilia, Splenomegaly, Leukocytosis, Myeloproli... |
ORPHA:98849 |
Cryoglobulinemic Vasculitis |
|
Hepatomegaly, Viral hepatitis, Splenomegaly, Mediastinal lymphadenopathy, Abnormality of the liver |
ORPHA:91138 |
Cutaneous Neuroendocrine Carcinoma |
|
Chronic noninfectious lymphadenopathy, Lymphoid leukemia |
ORPHA:79140 |
Sickle Cell Anemia |
|
Cholelithiasis, Hepatomegaly, Leukocytosis, Splenomegaly, Hemolytic anemia, Target cells, Cardiom... |
OMIM:603903 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Enlarged tonsils, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Hemolytic anemia, Aut... |
OMIM:606367 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatocellular necrosis, Hepatomegaly, Micronodular cirrhosis, Periportal fibrosis, Depletion of ... |
OMIM:251880 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Cholestatic liver disease, Hepatomegaly, Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutro... |
ORPHA:540 |
Chediak-Higashi Syndrome |
|
Hepatomegaly, Hemophagocytosis, Splenomegaly, Abnormal dense granules, Leukopenia, Impaired neutr... |
OMIM:214500 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Autoimmune hemolytic anemia, Chronic lymphatic leukemia, Jaundice, Splenomegaly |
ORPHA:90033 |
Immunodeficiency 60 And Autoimmunity |
|
Pancytopenia, Decreased basophil count, Decreased proportion of memory B cells, Splenomegaly |
OMIM:618394 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Abnormality o... |
ORPHA:231222 |
Legionnaires Disease |
|
Pancreatitis, Lymphopenia, Splenomegaly, Hepatitis, Bone marrow hypocellularity, Lymphadenopathy,... |
ORPHA:549 |
Chronic Granulomatous Disease |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Abnormality of neutrophils, Liver abscess |
ORPHA:379 |
Gallbladder Neuroendocrine Tumor |
|
Extrahepatic cholestasis, Chronic noninfectious lymphadenopathy, Cholecystitis, Biliary tract obs... |
ORPHA:100086 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hepatomegaly, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Leukopenia, Thrombocytopenia, P... |
OMIM:603553 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Ascites, Cardiomegaly |
OMIM:235200 |
Tangier Disease |
|
Left ventricular hypertrophy, Hepatomegaly, Splenomegaly |
OMIM:205400 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Lymphopenia, Absent peripheral lymph nodes in presence of infection, T lymphocytopenia, Impaired ... |
OMIM:600802 |
Wilson Disease |
|
Hepatomegaly, Acute hepatitis, Splenomegaly, Cirrhosis, Thrombocytopenia, Hepatitis, Anemia, Hepa... |
ORPHA:905 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hepatomegaly, Hemophagocytosis, Splenomegaly, Leukopenia, Thrombocytopenia, Anemia, Lymphadenopat... |
OMIM:267700 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Lymphadenitis, Cholestasis, Hepatic fibrosis, Anemia, L... |
OMIM:615895 |
Gaucher Disease, Type I |
|
Hepatomegaly, Splenomegaly, Pancytopenia, Anemia, Thrombocytopenia, Hypersplenism |
OMIM:230800 |
Anaplastic Thyroid Carcinoma |
|
Lymphadenopathy |
ORPHA:142 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Peritonitis, Lymphadenopathy, Hepatomegaly |
ORPHA:343 |
Lig4 Syndrome |
|
Hepatomegaly, Leukocytosis, Pancytopenia, Lymphadenopathy, Acute leukemia |
ORPHA:99812 |
Gray Platelet Syndrome |
|
Thrombocytopenia, Abnormal number of alpha granules, Splenomegaly |
OMIM:139090 |
Immunodeficiency 55 |
|
Neutropenia, Lymphadenopathy, Lymphopenia, Absent natural killer cells |
OMIM:617827 |
Transaldolase Deficiency |
|
Hepatomegaly, Micronodular cirrhosis, Splenomegaly, Cirrhosis, Hepatosplenomegaly, Hepatic fibros... |
OMIM:606003 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Pancreatic fibrosis, Hyperechogenic pancreas, Malformation... |
OMIM:208540 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Periportal fibrosis, Splenomegaly, Enlarged kidney, Hepatic cysts, Portal hypertens... |
OMIM:263200 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Increased proportion of CD4-positive T cells, Lymphadenopathy, Neutrophilia, Leukocytosis |
OMIM:617099 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:252920 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Splenomegaly, Autoimmune thrombocytopenia, B lymphocytopenia, Thrombocytopenia, Generalized lymph... |
OMIM:614700 |
Hyper-Igd Syndrome |
|
Neutrophilia, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Lymphadenitis, Lymphadenopathy |
OMIM:260920 |
Thymic Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Mediastinal lymphadenopathy, Neoplasm of the thymus, Pancr... |
ORPHA:97289 |
Hypocomplementemic Urticarial Vasculitis |
|
Lymphadenopathy, Hepatomegaly, Ascites, Splenomegaly |
ORPHA:36412 |
Hyperlipoproteinemia, Type I |
|
Hepatosplenomegaly, Pancreatitis, Jaundice, Splenomegaly |
OMIM:238600 |
Juvenile Idiopathic Arthritis |
|
Mediastinal lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:92 |
Caroli Disease |
|
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Leukocytosis, Splenomegaly, Cirrhosis, Cholesta... |
ORPHA:53035 |
Neonatal Lupus Erythematosus |
|
Neutropenia, Hepatomegaly, Splenomegaly, Aplastic anemia, Hemolytic anemia, Pancytopenia, Anemia,... |
ORPHA:398124 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Hepatomegaly, Abnormality of the lymph nodes, Hepatosplenomegaly, Anemia, Lymphadenopathy |
ORPHA:85450 |
Mevalonic Aciduria |
|
Fluctuating hepatomegaly, Fluctuating splenomegaly, Leukocytosis, Hepatosplenomegaly, Normocytic ... |
OMIM:610377 |
Mixed Connective Tissue Disease |
|
Hepatomegaly, Splenomegaly, Leukopenia, Mediastinal lymphadenopathy, Hemolytic anemia, Lymphadeno... |
ORPHA:809 |
Nodular Non-Suppurative Panniculitis |
|
Hepatomegaly, Splenomegaly |
ORPHA:33577 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hepatomegaly, Splenomegaly |
OMIM:618541 |
Common Variable Immunodeficiency |
|
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Lymphadenopathy, Abnorm... |
ORPHA:1572 |
Hereditary Spherocytosis |
|
Cholelithiasis, Hepatomegaly, Spherocytosis, Splenomegaly, Extramedullary hematopoiesis, Anemia, ... |
ORPHA:822 |
X-Linked Lymphoproliferative Disease |
|
Hemophagocytosis, Cervical lymphadenopathy, Aplastic anemia, B lymphocytopenia, Increased proport... |
ORPHA:2442 |
Periodic Fever, Familial, Autosomal Dominant |
|
Cervical lymphadenopathy, Hepatomegaly, Hepatic amyloidosis |
OMIM:142680 |
Granulomatous Disease, Chronic, X-Linked |
|
Hepatomegaly, Splenomegaly, Lymphadenitis, Granulomatosis, Impaired oxidative burst, Lymphadenopa... |
OMIM:306400 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Exocrine pancreatic insufficiency, Cholestatic liver disease, Hepatomegaly, Microvesicular hepati... |
OMIM:619418 |
Kaposiform Lymphangiomatosis |
|
Lymphangioma, Splenomegaly, Hepatosplenomegaly, Abnormal spleen morphology, Abnormality of the ly... |
ORPHA:464329 |
Acute Promyelocytic Leukemia |
|
Neutropenia, Leukocytosis, Leukopenia, Thrombocytopenia, Pancytopenia, Anemia, Lymphadenopathy |
ORPHA:520 |
Malt Lymphoma |
|
Anemia, Lymphadenopathy, Mediastinal lymphadenopathy |
ORPHA:52417 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Leukopenia, Thrombocytopenia, Biliary tract obstruction, P... |
ORPHA:77259 |
Scheie Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:93474 |
Adams-Oliver Syndrome 5 |
|
Right ventricular hypertrophy, Hypersplenism, Splenomegaly |
OMIM:616028 |
Autoimmune Hepatitis |
|
Viral hepatitis, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Sclerosing cholangitis, Fulmi... |
ORPHA:2137 |
Kikuchi-Fujimoto Disease |
|
Hepatomegaly, Lymphocytosis, Abnormality of the lymph nodes, Cervical lymphadenopathy, Splenomega... |
ORPHA:50918 |
Hyperlipoproteinemia, Type Id |
|
Pancreatitis, Hepatomegaly, Recurrent pancreatitis, Splenomegaly |
OMIM:615947 |
Tangier Disease |
|
Chronic noninfectious lymphadenopathy, Hepatosplenomegaly, Left ventricular hypertrophy, Thromboc... |
ORPHA:31150 |
Carney Triad |
|
Anemia, Lymphadenopathy, Mediastinal lymphadenopathy, Ascites |
ORPHA:139411 |
Agammaglobulinemia, X-Linked |
|
Enteroviral hepatitis, Hepatocellular carcinoma, B lymphocytopenia, T lymphocytopenia, Neutropeni... |
OMIM:300755 |
Dominant Beta-Thalassemia |
|
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Hepa... |
ORPHA:231226 |
Niemann-Pick Disease, Type C1 |
|
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Prolonged neonatal jaundice, Fetal ascites, B... |
OMIM:257220 |
Parenteral Nutrition-Associated Cholestasis |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic fibrosis, Portal hypertension, Bil... |
ORPHA:567983 |
Autoimmune Lymphoproliferative Syndrome |
|
Abnormal proportion of CD8-positive T cells, Hepatomegaly, Bone marrow hypocellularity, Reticuloc... |
ORPHA:3261 |
Beta-Thalassemia Major |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, E... |
ORPHA:231214 |
Waldenström Macroglobulinemia |
|
Hepatomegaly, Splenomegaly, Normocytic anemia, Abnormality of neutrophils, Leukemia, Lymphadenopathy |
ORPHA:33226 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Lymphopenia, Leukopenia, Follicular hyperplasia, Thrombocytosis, Anemia, Paratracheal lymphadenop... |
OMIM:615934 |
Carcinoid Syndrome |
|
Chronic noninfectious lymphadenopathy, Hepatic necrosis |
ORPHA:100093 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Histiocytosis, Hepatomegaly, Splenomegaly, Cervical lymphadenopathy, Hepatosplenomegaly, Pancreat... |
OMIM:602782 |
Q Fever |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Cholecystitis, Thrombocytopenia, Hepatitis, Anemi... |
ORPHA:781 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Hepatomegaly, Lymphopenia, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Leukopenia, Thrombocyt... |
OMIM:615688 |
Primary Lipodystrophy |
|
Cirrhosis, Hepatic steatosis, Pancreatitis, Splenomegaly |
ORPHA:90970 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Eosinophilia, Hepatitis, Lymphadenopathy, Lymphocytosis |
ORPHA:139402 |
Gaucher Disease, Type Iiic |
|
Pancytopenia, Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:231005 |
Glycogen Storage Disease Xii |
|
Cholelithiasis, Nonspherocytic hemolytic anemia, Hepatomegaly, Splenomegaly, Normocytic anemia, C... |
OMIM:611881 |
Sitosterolemia 1 |
|
Episodic hemolytic anemia, Splenomegaly, Reticulocytosis, Chronic hemolytic anemia, Giant platele... |
OMIM:210250 |
Graft Versus Host Disease |
|
Hemophagocytosis, Chronic hepatitis, Hepatosplenomegaly, Acute hepatitis, Lymphadenopathy, Jaundice |
ORPHA:39812 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Splenomegaly, Cholestasis, Pancreatic hypoplasia, Hepatitis, Splenic cyst, Hepatic ... |
OMIM:610199 |
Pediatric Systemic Lupus Erythematosus |
|
Lymphopenia, Leukopenia, Thrombocytopenia, Microangiopathic hemolytic anemia, Lymphadenopathy, As... |
ORPHA:93552 |
Pulmonary Capillary Hemangiomatosis |
|
Lymphadenopathy, Mediastinal lymphadenopathy |
ORPHA:199241 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Neoplasm of the liver, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chronic non... |
ORPHA:100085 |
Acute Interstitial Pneumonia |
|
Reduced hematocrit, Lymphadenopathy |
ORPHA:79126 |
Neuroendocrine Tumor Of The Colon |
|
Chronic noninfectious lymphadenopathy, Hepatomegaly |
ORPHA:100080 |
Farber Disease |
|
Hepatosplenomegaly, Thrombocytopenia, Hepatic fibrosis, Ascites, Anemia, Lymphadenopathy, Intrahe... |
ORPHA:333 |
Triosephosphate Isomerase Deficiency |
|
Cholelithiasis, Splenomegaly, Normocytic anemia, Macrocytic anemia, Cholecystitis, Hemolytic anem... |
OMIM:615512 |
Hereditary Orotic Aciduria |
|
Anemia, Splenomegaly |
ORPHA:30 |
Isolated Biliary Atresia |
|
Hepatomegaly, Periportal fibrosis, Splenomegaly, Cirrhosis, Cholestasis, Atretic gallbladder, Pro... |
ORPHA:30391 |
Immunodeficiency 47 |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, Cirrhosis, Leukopenia, Accessory s... |
OMIM:300972 |
Niemann-Pick Disease, Type C2 |
|
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Prolonged neonatal jaundice, Fetal ascites, B... |
OMIM:607625 |
Adenocarcinoma Of The Anal Canal |
|
Neoplasm of the liver, Lymphadenopathy |
ORPHA:424016 |
Thymic Aplasia |
|
Decreased proportion of naive T cells, Coombs-positive hemolytic anemia, Aplasia of the thymus, T... |
ORPHA:83471 |
Poems Syndrome |
|
Polycythemia, Thrombocytosis, Visceromegaly, Lymphadenopathy, Ascites |
ORPHA:2905 |
Chédiak-Higashi Syndrome |
|
Abnormal leukocyte morphology, Neutropenia, Vacuolated lymphocytes, Hemophagocytosis, Abnormal na... |
ORPHA:167 |
Familial Thrombocytosis |
|
Thrombocytosis, Chronic myelogenous leukemia, Acute myeloid leukemia, Splenomegaly |
ORPHA:71493 |
Multiple Myeloma |
|
Anemia, Lymphadenopathy, Splenomegaly |
ORPHA:29073 |
Familial Tumoral Calcinosis |
|
Hepatomegaly, Splenomegaly |
ORPHA:53715 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemia, Schistocytosis, Sideroblastic anemia |
OMIM:616084 |
H Syndrome |
|
Histiocytosis, Hepatosplenomegaly, Enlarged kidney, Microcytic anemia, Lymphadenopathy |
ORPHA:168569 |
Lymphatic Filariasis |
|
Lymphadenitis, Abnormality of the lymphatic system, Hypereosinophilia, Lymphangiectasis, Lymphade... |
ORPHA:2035 |
Hemophagocytic Syndrome Associated With An Infection |
|
Neutropenia, Hepatomegaly, Abnormal T cell subset distribution, Hemophagocytosis, Splenomegaly, A... |
ORPHA:158048 |
Neuroendocrine Tumor Of The Rectum |
|
Chronic noninfectious lymphadenopathy, Hepatomegaly |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Chronic noninfectious lymphadenopathy, Hepatomegaly |
ORPHA:100082 |
Cherubism |
|
Submandibular lymph node enlargement |
OMIM:118400 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Anemia, Hepatosplenomegaly, Lymphadenopathy |
ORPHA:85408 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Hepatomegaly, Lymphopenia, Aplasia of the thymus, Splenomegaly, Severe B lymphocytopenia, Eosinop... |
OMIM:102700 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, Autoimmune thrombocytopenia, ... |
ORPHA:37042 |
Familial Mediterranean Fever |
|
Pancreatitis, Splenomegaly, Peritonitis, Lymphadenopathy, Ascites |
ORPHA:342 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Splenomegaly |
OMIM:612918 |
Bronchial Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Hepatomegaly |
ORPHA:97287 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Peritonitis, Lymphadenopathy, Leukocytosis, Splenomegaly |
ORPHA:32960 |
Selective Igm Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of transitional B cell... |
ORPHA:331235 |
Glycogen Storage Disease Ib |
|
Pancreatitis, Hepatomegaly, Splenomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Enlarged... |
OMIM:232220 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Lymphopenia, Autoimmune thrombocytopenia, T lymphocytopenia, Neutropenia, Lymphadenopathy |
OMIM:607944 |
Reynolds Syndrome |
|
Biliary cirrhosis, Hepatomegaly, Jaundice, Splenomegaly |
OMIM:613471 |
Idiopathic Hypereosinophilic Syndrome |
|
Pancreatitis, Neutrophilia, Leukocytosis, Splenomegaly, Cervical lymphadenopathy, Myeloproliferat... |
ORPHA:3260 |
Hennekam Syndrome |
|
Lymphangioma, Lymphopenia, Splenomegaly, Pulmonary lymphangiectasia, Lymphadenopathy, Ascites |
ORPHA:2136 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangiocarcinoma, Hepatoblastoma, Periportal fibrosis, Splenomegaly, Hepatosplenomegaly, Choles... |
ORPHA:731 |
Igg4-Related Submandibular Gland Disease |
|
Abnormal pancreas morphology, Eosinophilia, Retroperitoneal fibrosis, Cholangitis, Lymphadenopathy |
ORPHA:449432 |
Duodenal Neuroendocrine Tumor |
|
Increased hematocrit, Extrahepatic cholestasis, Iron deficiency anemia, Insulinoma, Lymphadenopat... |
ORPHA:100076 |
Ileal Neuroendocrine Tumor |
|
Lymphadenopathy, Extrahepatic cholestasis, Iron deficiency anemia |
ORPHA:100078 |
Jejunal Neuroendocrine Tumor |
|
Lymphadenopathy, Extrahepatic cholestasis, Iron deficiency anemia |
ORPHA:100077 |
Brucellosis |
|
Abnormality of the liver, Hepatomegaly, Leukocytosis, Splenomegaly, Leukopenia, Thrombocytopenia,... |
ORPHA:1304 |
Lymphangioleiomyomatosis |
|
Pulmonary lymphangiomyomatosis, Lymphadenopathy, Abnormality of the lymphatic system, Ascites |
ORPHA:538 |
Coccidioidomycosis |
|
Pancreatitis, Peritonitis, Eosinophilia, Abnormality of the spleen, Mediastinal lymphadenopathy, ... |
ORPHA:228123 |
Autosomal Recessive Malignant Osteopetrosis |
|
Anemia, Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:667 |
Neuroendocrine Tumor Of Stomach |
|
Chronic noninfectious lymphadenopathy, Hepatomegaly, Iron deficiency anemia |
ORPHA:100075 |
Aicardi-Goutieres Syndrome 7 |
|
Hepatomegaly, Splenomegaly, Hemolytic anemia, Generalized lymphadenopathy, Hepatitis, Pancytopeni... |
OMIM:615846 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Splenomegaly, Follicular hyperplasia, B lymphocytopenia, T... |
OMIM:619381 |
Crimean-Congo Hemorrhagic Fever |
|
Hemoperitoneum, Hepatomegaly, Neutrophilia, Splenomegaly, Leukocytosis, Leukopenia, Cholecystitis... |
ORPHA:99827 |
Igg4-Related Kidney Disease |
|
Pancreatitis, Lymphadenitis, Eosinophilia, Sclerosing cholangitis, Enlarged kidney, Cholecystitis... |
ORPHA:449395 |
Immunodeficiency 87 And Autoimmunity |
|
Hepatomegaly, Lymphopenia, Cervical lymphadenopathy, Hepatic steatosis, Cholestasis, Thrombocytop... |
OMIM:619573 |
Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Generalized lymphadenopathy, Pancytopenia |
OMIM:181000 |
Malakoplakia |
|
Follicular hyperplasia |
ORPHA:556 |
Sarcoidosis |
|
Hepatomegaly, Abnormality of the lymph nodes, Eosinophilia, Leukopenia, Thrombocytopenia, Hemolyt... |
ORPHA:797 |
Primary Sjögren Syndrome |
|
Chronic active hepatitis, Lymphopenia, Chronic hepatitis, Leukopenia, Normocytic anemia, Thromboc... |
ORPHA:289390 |
Chikungunya |
|
Cervical lymphadenopathy, Lymphadenopathy |
ORPHA:324625 |
Igg4-Related Ophthalmic Disease |
|
Pancreatitis, Eosinophilia, Retroperitoneal fibrosis, Cholangitis, Lymphadenopathy |
ORPHA:449563 |
Behçet Disease |
|
Lymphadenopathy, Pancreatitis, Splenomegaly |
ORPHA:117 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Microcytic anemia, Lymphadenopathy, Cardiomegaly |
OMIM:256040 |
Neuroendocrine Neoplasm Of Appendix |
|
Chronic noninfectious lymphadenopathy, Hepatomegaly |
ORPHA:100079 |
Marburg Hemorrhagic Fever |
|
Pancreatitis, Lymphopenia, Leukopenia, Abnormal lymphocyte morphology, Thrombocytopenia, Neutroph... |
ORPHA:99826 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Retroperitoneal fibrosis, Lymphadenopathy, Thrombocytopenia |
ORPHA:79078 |
Blau Syndrome |
|
Anemia, Lymphadenopathy, Abnormality of the liver, Splenomegaly |
ORPHA:90340 |
Kawasaki Disease |
|
Leukocytosis, Cervical lymphadenopathy, Cholecystitis, Hepatitis, Jaundice |
ORPHA:2331 |
Leptospirosis |
|
Hepatomegaly, Thrombocytopenia, Hepatitis, Lymphadenopathy, Jaundice |
ORPHA:509 |
African Trypanosomiasis |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy, Jaundice |
ORPHA:3385 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Lymphopenia, Leukocytosis, Abnormality of the lymph nodes, Neoplasm of the thymus, Pancreatoblast... |
ORPHA:99889 |