Cystic Angiomatosis Of Bone, Diffuse |
|
Cystic angiomatosis of bone |
OMIM:123880 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Plasmacytosis, Follicular hyperplasia, Mediastinal lymphadenopathy |
ORPHA:60026 |
Hereditary Progressive Mucinous Histiocytosis |
|
Lymphadenopathy, Mucinous histiocytosis |
ORPHA:158025 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Absence of lymph node germinal center, Abnormality of the liver |
OMIM:235550 |
Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99977 |
Reticuloendotheliosis, X-Linked |
|
Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly |
OMIM:312500 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
Burkitt Lymphoma |
|
Abnormal lymph node morphology, Abnormality of the pancreas, Abnormality of the liver, Hyperurice... |
ORPHA:543 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Anemia, Hypertriglyceridemia, Jaundice, Lymphadenopathy, Increased circulating ferritin concentra... |
OMIM:603552 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Abnormal lymph node morphology, Anemia, Brain abscess, Abnormality of the pancreas, Abnormal test... |
ORPHA:54251 |
Kerion Celsi |
|
Recurrent cutaneous abscess formation, Lymphadenopathy |
ORPHA:499 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Hepatitis, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemi... |
ORPHA:444463 |
Immunodeficiency 75 With Lymphoproliferation |
|
Lymphadenopathy, Follicular hyperplasia, Decreased proportion of class-switched memory B cells, H... |
OMIM:619126 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell... |
OMIM:212050 |
Distal Osteosclerosis |
|
Diaphyseal sclerosis, Craniofacial osteosclerosis, Hyperostosis |
OMIM:126250 |
Immunodeficiency 104 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia, Hepatomegaly |
OMIM:608971 |
Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
Kimura Disease |
|
Lymphadenopathy, Follicular hyperplasia, Abnormal salivary gland morphology, Eosinophilia |
ORPHA:482 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Anemia, Hepatosplenomegaly, Lymphadenopathy, Increased circulating ferritin concentration, Hemoph... |
OMIM:613101 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased B cell count, Nephrotic syndrome, Stage 5 chronic kidney disease, Generalized lymphaden... |
OMIM:615559 |
Immunodeficiency 76 |
|
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Lymphadenopathy, Splenomegaly |
OMIM:619164 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, Decreased proporti... |
OMIM:617514 |
Immunodeficiency 105 |
|
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... |
OMIM:619924 |
Laryngeal Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone excess, Elevated carcinoembryo... |
ORPHA:100083 |
Granulomatous Slack Skin |
|
Abnormal lymph node morphology, Nephrocalcinosis, Hypercalcemia, Acute kidney injury |
ORPHA:33111 |
Immunodeficiency 27A |
|
Anemia, Hepatosplenomegaly, Lymphadenopathy, Thrombocytosis, Leukocytosis, Histiocytosis, Enlarge... |
OMIM:209950 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Autoimmune thrombocytopenia, L... |
OMIM:619846 |
Mu-Heavy Chain Disease |
|
Anemia, Abnormal B cell count, Lymphadenopathy, Nephropathy, Hepatomegaly, Bence Jones Proteinuri... |
ORPHA:100024 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
T lymphocytopenia, Increased proportion of transitional B cells, Lymphadenopathy, Decreased propo... |
OMIM:615513 |
Adenocarcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99976 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Genital ulcers, B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally low T cel... |
OMIM:602450 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly, Microcytic anemia, Recurrent tonsillitis |
OMIM:618852 |
Isolated Splenogonadal Fusion |
|
Abnormal epididymis morphology, Abnormality of the scrotum, Testicular mass, Polysplenia, Bilater... |
ORPHA:457083 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Splenomegaly, Hemolytic anemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopenia, Follicu... |
OMIM:614470 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Elevated circulating C-reactive protein concentration, Lymphadenopathy, Splenomegaly, Leukocytosis |
OMIM:611762 |
Lymphoproliferative Syndrome 1 |
|
Leukopenia, Anemia, Pancytopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymph... |
OMIM:613011 |
Lymphoproliferative Syndrome 3 |
|
Reduced natural killer cell count, Lymphadenopathy, Hepatosplenomegaly |
OMIM:618261 |
Heme Oxygenase 1 Deficiency |
|
Asplenia, Hemolytic anemia, Coombs-positive hemolytic anemia, Hematuria, Nephritis, Lymphadenopat... |
OMIM:614034 |
Immunodeficiency 97 With Autoinflammation |
|
Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ... |
OMIM:619802 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Autoimmune hem... |
OMIM:619220 |
Mast Cell Sarcoma |
|
Mastocytosis, Lymphadenopathy, Mediastinal lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:66661 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopeni... |
OMIM:300853 |
Alpha-Heavy Chain Disease |
|
Anemia, Lymphadenopathy, Hepatomegaly, Hypocalcemia, Splenomegaly |
ORPHA:100025 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Fulminant hepatitis, Lymphocytosis, Pancytopenia, Lymphadenopathy, Thrombocytopenia, Hemophagocyt... |
OMIM:308240 |
Carcinoma Of Esophagus |
|
Lymphadenopathy |
ORPHA:70482 |
Generalized Eruptive Histiocytosis |
|
Hypereosinophilia, Lymphadenopathy, Histiocytosis, Leukemia |
ORPHA:157991 |
Leishmaniasis |
|
Leukopenia, Anemia, Abnormal macrophage morphology, Pancytopenia, Lymphadenopathy, Hepatomegaly, ... |
ORPHA:507 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Lymphadenopathy, Epididymitis |
OMIM:608106 |
Immunodeficiency 64 With Lymphoproliferation |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Hepatosplenomegaly, In... |
OMIM:618534 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Abnormal lymph node morphology, Nodular goiter, Chronic noninfectious lymphadenopathy, Goiter |
ORPHA:97290 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased B cell count, Lymphadenopathy, Increased proportion of memory T cells, Hepatosplenomegaly |
OMIM:618982 |
Reticular Dysgenesis |
|
Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus, Lymphopenia |
OMIM:267500 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:86893 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Abnormal lymph node morphology, Abnormal testis morphology, Hepatosplenomegaly, Oligospermia, Hep... |
ORPHA:85450 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Abnormal lymph node morphology, Nodular goiter, Chronic noninfectious lymphadenopathy, Goiter |
ORPHA:319487 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
B lymphocytopenia, Lymphadenopathy, Abnormal CD4:CD8 ratio, Neutropenia, Intermittent thrombocyto... |
OMIM:150550 |
Griscelli Syndrome Type 2 |
|
Jaundice, Pancytopenia, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Hyperlipidemia, Neutrope... |
ORPHA:79477 |
Cinca Syndrome |
|
Anemia, Hepatosplenomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentratio... |
OMIM:607115 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy |
OMIM:618987 |
Macrophage Activation Syndrome |
|
Abnormal natural killer cell count, Anemia, Hypertriglyceridemia, Hepatitis, Lymphadenopathy, Inc... |
ORPHA:158061 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Abnormal lymph node morphology, Anemia, Hepatosplenomegaly, Leukocytosis, Extramedullary hematopo... |
OMIM:612840 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Decreased proportion of marginal zone B cells, Coombs-positive hemolytic anemia, Autoimmune throm... |
OMIM:619375 |
Follicular Lymphoma |
|
Lymphadenopathy, Splenomegaly, Mediastinal lymphadenopathy, Abnormality of the peritoneum |
ORPHA:545 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased total bilirubin, Leukopenia, Anemia, Increased VLDL cholesterol concentration, Jaundice... |
OMIM:267700 |
Immunodeficiency 32A |
|
Granuloma, Lymphadenopathy, Lymphadenitis |
OMIM:614893 |
Omenn Syndrome |
|
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Lymphadenopathy, H... |
OMIM:603554 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Absent tonsils, Absence of lymph node germinal... |
ORPHA:277 |
Fish-Eye Disease |
|
Lymphadenopathy, Decreased HDL cholesterol concentration, Splenomegaly, Hepatomegaly |
ORPHA:79292 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Chronic noninfectious lymphadenopathy, Increased B cell count, Nephrotic syndrome, Coombs-positiv... |
OMIM:603909 |
Hodgkin Lymphoma |
|
Lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:98293 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Absence of lymph node germinal center, Neutropenia |
OMIM:606843 |
Immunodeficiency 91 And Hyperinflammation |
|
Hemolytic-uremic syndrome, Renal insufficiency, Nephrotic syndrome, Neutrophilia, Membranoprolife... |
OMIM:619644 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Lymphadenopathy |
OMIM:617772 |
Purine Nucleoside Phosphorylase Deficiency |
|
Increased circulating inosine concentration, Neutropenia in presence of anti-neutropil antibodies... |
OMIM:613179 |
Autoimmune Lymphoproliferative Syndrome |
|
Chronic noninfectious lymphadenopathy, Coombs-positive hemolytic anemia, Neutropenia in presence ... |
OMIM:601859 |
Schnitzler Syndrome |
|
Anemia, Lymphadenopathy, Leukocytosis, Hepatomegaly, Splenomegaly |
ORPHA:37748 |
Rosaï-Dorfman Disease |
|
Anemia, Lymphadenopathy |
ORPHA:158014 |
Rhabdoid Tumor |
|
Anemia, Neoplasm of the liver, Hematuria, Lymphadenopathy, Hypercalcemia, Thrombocytopenia |
ORPHA:69077 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Absence of lymph node germinal center, Autoimmune thrombocytopenia |
OMIM:608184 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cells, Jaundice,... |
ORPHA:276 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Lymphadenitis, Perianal abscess, Hemolytic anemia, Nephrotic syndrome, Granuloma, Lymphopenia, He... |
OMIM:618935 |
Immunodeficiency 54 |
|
Reduced natural killer cell count, Adrenocorticotropic hormone excess, Lymphadenopathy, Hepatomeg... |
OMIM:609981 |
Indolent Systemic Mastocytosis |
|
Mastocytosis, Lymphadenopathy, Increased proportion of CD25+ mast cells, Hepatomegaly, Abnormal m... |
ORPHA:98848 |
Desmoplastic Small Round Cell Tumor |
|
Anemia, Neoplasm of the pancreas, Abnormality of the peritoneum, Lymphadenopathy, Mediastinal lym... |
ORPHA:83469 |
Immunodeficiency, Common Variable, 1 |
|
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, Decreas... |
OMIM:607594 |
Griscelli Syndrome |
|
Leukopenia, Abnormal circulating lipid concentration, Hepatitis, Jaundice, Abnormality of neutrop... |
ORPHA:381 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Abnormal lymph node morphology, Lymphadenitis, Nephrotic syndrome, Lymphocytosis, Decreased propo... |
ORPHA:911 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased total bilirubin, Leukopenia, Anemia, Jaundice, Pancytopenia, Hepatosplenomegaly, Lympha... |
OMIM:603553 |
Tularemia |
|
Anemia, Brain abscess, Cutaneous abscess, Abnormal nasopharyngeal adenoid morphology, Lymphadenop... |
ORPHA:3392 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, B lymphocytopenia, Lymphadenopathy, Elevated circulating C-reactive prot... |
OMIM:618048 |
Classic Mycosis Fungoides |
|
Lymphadenopathy, Splenomegaly, Abnormal lymphocyte morphology, Hepatomegaly |
ORPHA:2584 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Lymphadenitis, Leukopenia, T lymphocytopenia, Monocytopenia, B lymphocytopenia, Impaired neutroph... |
OMIM:618986 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
T lymphocytopenia, Lymphocytosis, Decreased proportion of CD3-positive T cells, Decreased proport... |
ORPHA:169154 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Elevated circulating C-reactive protein concentration, Lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:85414 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Lymphadenopathy, Abnormal neutrophil count, Bone marrow hypocellularity, Leukocytosis, Myeloproli... |
ORPHA:3226 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Splenomegaly |
OMIM:618495 |
Immunodeficiency 7 |
|
Hypereosinophilia, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Neutropenia, Splen... |
OMIM:615387 |
Immunodeficiency, Common Variable, 2 |
|
Lymphadenopathy, Follicular hyperplasia, Splenomegaly, Hepatomegaly |
OMIM:240500 |
Congenital Toxoplasmosis |
|
Anemia, Jaundice, Lymphadenopathy, Hepatomegaly, Thrombocytopenia |
ORPHA:858 |
Caspase 8 Deficiency |
|
Lymphadenopathy, Decreased CD4:CD8 ratio, Splenomegaly |
OMIM:607271 |
Lymphoproliferative Syndrome 2 |
|
Pancytopenia, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Aplastic anemi... |
OMIM:615122 |
Pfapa Syndrome |
|
Lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:42642 |
Primary Myelofibrosis |
|
Anemia, Pancytopenia, Hepatosplenomegaly, Poikilocytosis, Lymphadenopathy, Thrombocytosis, Leukoc... |
ORPHA:824 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Hepatosplenomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Eleva... |
OMIM:619750 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
B lymphocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Hemophagocytosis, Bone marrow hy... |
OMIM:301078 |
Castleman Disease |
|
Anemia, Renal insufficiency, Jaundice, Ureteral obstruction, Generalized lymphadenopathy, Hematur... |
ORPHA:160 |
Cold Agglutinin Disease |
|
Hemolytic anemia, Lymphadenopathy, Abnormal urinary color, Hepatomegaly, Splenomegaly |
ORPHA:56425 |
Aggressive Systemic Mastocytosis |
|
Anemia, Hypersplenism, Pancytopenia, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of... |
ORPHA:98850 |
Adult-Onset Still Disease |
|
Abnormal circulating lipid concentration, Hepatitis, Neutrophilia, Generalized lymphadenopathy, B... |
ORPHA:829 |
Lig4 Syndrome |
|
Hypoplasia of penis, Pancytopenia, Lymphadenopathy, Cryptorchidism, Leukocytosis, Hepatomegaly, A... |
ORPHA:99812 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Anemia, Hypertriglyceridemia, Jaundice, Abnormal renal physiology, Lymphadenopathy, Increased cir... |
ORPHA:540 |
Cinca Syndrome |
|
Anemia, Abnormal granulocyte morphology, Abnormality of neutrophils, Lymphadenopathy, Elevated ci... |
ORPHA:1451 |
Cyclic Neutropenia |
|
Perianal abscess, Peritonitis, Decreased eosinophil count, Lymphopenia, Lymphadenopathy, Cyclic n... |
ORPHA:2686 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Lymphadenopathy |
OMIM:605258 |
Thymic Neuroendocrine Tumor |
|
Increased circulating prolactin concentration, Neoplasm of the thymus, Pituitary adenoma, Calcium... |
ORPHA:97289 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Lymphadenitis, Vesicoureteral reflux, Anemia, Hepatic fibrosis, Elevated circulating creatine kin... |
OMIM:615895 |
Boutonneuse Fever |
|
Leukopenia, Renal insufficiency, Lymphadenopathy, Cervical lymphadenopathy, Thrombocytopenia |
ORPHA:83313 |
Lymphatic Filariasis |
|
Hypereosinophilia, Lymphangiectasis, Lymphadenitis, Vaginal hydrocele, Abnormality of the scrotum... |
ORPHA:2035 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leukocytosi... |
OMIM:617099 |
X-Linked Lymphoproliferative Disease |
|
T lymphocytopenia, Hepatosplenomegaly, Increased T cell count, Bone marrow hypocellularity, Cervi... |
ORPHA:2442 |
Pancreatoblastoma |
|
Abnormal lymph node morphology, Jaundice, Pancreatic calcification, Elevated maternal serum alpha... |
ORPHA:677 |
Omenn Syndrome |
|
Anemia, Nephrotic syndrome, Lymphadenopathy, Leukocytosis, Eosinophilia, Hepatomegaly, Splenomega... |
ORPHA:39041 |
Gamma-Heavy Chain Disease |
|
Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, ... |
ORPHA:100026 |
Mevalonic Aciduria |
|
Anemia, Elevated urine mevalonic acid level, Hepatosplenomegaly, Elevated circulating creatine ki... |
OMIM:610377 |
Aregenerative Anemia |
|
Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Pancytopeni... |
ORPHA:101096 |
Classic Hodgkin Lymphoma |
|
Lymphadenopathy, Splenomegaly, Bone marrow hypocellularity, Hepatomegaly |
ORPHA:391 |
Roifman Syndrome |
|
Hypogonadotropic hypogonadism, Lymphadenopathy, Eosinophilia, Hepatosplenomegaly |
ORPHA:353298 |
Legionnaires Disease |
|
Splenomegaly, Hepatitis, Jaundice, Hematuria, Lymphopenia, Lymphadenopathy, Bone marrow hypocellu... |
ORPHA:549 |
Pleural Mesothelioma |
|
Lymphadenopathy, Hepatomegaly |
ORPHA:50251 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Anemia, Hepatitis, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Glomerulonephri... |
OMIM:304790 |
Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy |
OMIM:612783 |
Niemann-Pick Disease, Type A |
|
Sea-blue histiocytosis, Lymphadenopathy, Bone-marrow foam cells, Hepatomegaly, Prolonged neonatal... |
OMIM:257200 |
Acute Monoblastic/Monocytic Leukemia |
|
Anemia, Lymphocytosis, Cervical lymphadenopathy, Acute monocytic leukemia, Oliguria, Leukocytosis... |
ORPHA:514 |
Acquired Hypertrichosis Lanuginosa |
|
Lymphadenopathy, Ovarian neoplasm |
ORPHA:2221 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomeg... |
OMIM:616100 |
Pseudomyxoma Peritonei |
|
Lymphadenopathy, Abnormality of the peritoneum |
ORPHA:26790 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphatic leukemia, C... |
ORPHA:98849 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Abnormal natural killer cell count, Anemia, T lymphocytopenia, Urinary retention, Jaundice, Pancy... |
ORPHA:79124 |
Immunodeficiency 27B |
|
Generalized lymphadenopathy |
OMIM:615978 |
Kikuchi-Fujimoto Disease |
|
Abnormal lymph node morphology, Leukopenia, Anemia, Enlargement of parotid gland, Lymphocytosis, ... |
ORPHA:50918 |
Roifman Syndrome |
|
Lymphadenopathy, Splenomegaly, Eosinophilia, Hepatomegaly |
OMIM:616651 |
Diffuse Cutaneous Mastocytosis |
|
Abnormality of the liver, Lymphocytosis, Lymphadenopathy, Hepatomegaly, Myeloproliferative disord... |
ORPHA:79456 |
Sézary Syndrome |
|
Lymphadenopathy, Splenomegaly, Abnormal lymphocyte morphology, Hepatomegaly |
ORPHA:3162 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Anemia, Lymphopenia, Lymphadenopathy, Hepatomegaly, Thrombocytopenia, Hypertriglyceridemia, Splen... |
OMIM:617591 |
Acute Promyelocytic Leukemia |
|
Leukopenia, Anemia, Hematuria, Pancytopenia, Lymphadenopathy, Leukocytosis, Thrombocytopenia, Neu... |
ORPHA:520 |
Felty Syndrome |
|
Anemia, Lymphadenopathy, Bone marrow hypocellularity, Hepatomegaly, Thrombocytopenia, Neutropenia... |
ORPHA:47612 |
Medullary Thyroid Carcinoma |
|
Nodular goiter, Pheochromocytoma, Lymphadenopathy, Primary hyperparathyroidism, Abnormal liver pa... |
ORPHA:1332 |
Agammaglobulinemia, X-Linked |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Prostatitis, Hepatocellular carcinoma, Enteroviral ... |
OMIM:300755 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Leukopenia, Anemia, Lymphopenia, Follicular hyperplasia, Thrombocytosis, Elevated circulating C-r... |
OMIM:615934 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Decreased CD4:CD8 ratio, Hemolytic anemia, T lymphocytopenia, B lymphocytopenia, Decreased propor... |
OMIM:606367 |
Mycosis Fungoides |
|
Lymphadenopathy |
OMIM:254400 |
Chediak-Higashi Syndrome |
|
Leukopenia, Anemia, Jaundice, Giant neutrophil granules, Lymphadenopathy, Hemophagocytosis, Hepat... |
OMIM:214500 |
Thyroid Lymphoma |
|
Lymphadenopathy, Goiter |
ORPHA:97285 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Cirrhosis, Hemolytic anemia, Hepatitis, Sclerosing cholangitis, Enlarged tonsils, Hepatomegaly, C... |
OMIM:308230 |
Nephroblastoma |
|
Lymphadenopathy, Hematuria, Neoplasm of the liver |
ORPHA:654 |
H Syndrome |
|
Hypertriglyceridemia, Hypogonadism, Decreased testicular size, Enlarged kidney, Azoospermia, Hepa... |
ORPHA:168569 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Hepatomegaly |
OMIM:619183 |
Pediatric Systemic Lupus Erythematosus |
|
Leukopenia, Renal insufficiency, Nephrotic syndrome, Microangiopathic hemolytic anemia, Hematuria... |
ORPHA:93552 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Chronic neutropenia, B lymphocytopenia, Generalized lymphadenopathy, Pancytopenia, Autoimmune thr... |
OMIM:614700 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
T lymphocytopenia, Lymphopenia, Absent peripheral lymph nodes in presence of infection, Impaired ... |
OMIM:600802 |
Kaposi Sarcoma |
|
Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy |
ORPHA:33276 |
Familial Pancreatic Carcinoma |
|
Pancreatic adenocarcinoma, Extrahepatic cholestasis, Peritoneal abscess, Neoplasm of the liver, J... |
ORPHA:1333 |
Anaplastic Thyroid Carcinoma |
|
Nodular goiter, Lymphadenopathy, Goiter |
ORPHA:142 |
Klatskin Tumor |
|
Extrahepatic cholestasis, Jaundice, Cholangiocarcinoma, Lymphadenopathy, Hepatomegaly |
ORPHA:99978 |
Autoimmune Lymphoproliferative Syndrome |
|
Coombs-positive hemolytic anemia, Hepatocellular carcinoma, Reticulocytosis, Glomerulonephritis, ... |
ORPHA:3261 |
Multiple Myeloma |
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Anemia, Nephrotic syndrome, Acute kidney injury, Lymphadenopathy, Nephropathy, Hypercalcemia, Ele... |
ORPHA:29073 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Tubulointerstitial nephritis, Decreased prealbumin level, Nephrotic syndrome, Hepatitis, Neutrope... |
ORPHA:37042 |
Chédiak-Higashi Syndrome |
|
Anemia, Hypertriglyceridemia, Neutropenia, Jaundice, Pancytopenia, Hepatosplenomegaly, Lymphadeno... |
ORPHA:167 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Leukopenia, Anemia, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Lymphadenopathy, Thrombocytosi... |
OMIM:615688 |
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Lymphadenopathy, Proteinuria |
ORPHA:69126 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Lymphocytosis, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Cervical l... |
OMIM:617718 |
Acute Interstitial Pneumonia |
|
Elevated circulating creatinine concentration, Lymphadenopathy, Reduced hematocrit, Elevated circ... |
ORPHA:79126 |
Meige Disease |
|
Absence of lymph node germinal center, Lymph node hypoplasia |
ORPHA:90186 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly |
ORPHA:169090 |
Scrub Typhus |
|
Lymphadenopathy, Renal insufficiency, Splenomegaly |
ORPHA:83317 |
Igg4-Related Kidney Disease |
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Nephrotic range proteinuria, Prostatitis, Sclerosing cholangitis, Eosinophilia, Sialadenitis, Lym... |
ORPHA:449395 |
Immunodeficiency 55 |
|
Lymphadenopathy, Neutropenia, Absent natural killer cells, Lymphopenia |
OMIM:617827 |
Mixed Connective Tissue Disease |
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Leukopenia, Hemolytic anemia, Lymphadenopathy, Nephropathy, Mediastinal lymphadenopathy, Hepatome... |
ORPHA:809 |
Carcinoid Syndrome |
|
Chronic noninfectious lymphadenopathy, Hepatic necrosis, Abnormal B-type natriuretic peptide conc... |
ORPHA:100093 |
Hyper-Igd Syndrome |
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Lymphadenitis, Elevated urine mevalonic acid level, Renal angiomyolipoma, Neutrophilia, Hepatospl... |
OMIM:260920 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
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Lymphadenitis, Liver abscess, Granulomatosis, Lymphadenopathy, Rectal abscess, Hepatomegaly, Impa... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
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Lymphadenitis, Liver abscess, Granulomatosis, Lymphadenopathy, Rectal abscess, Hepatomegaly, Impa... |
OMIM:233710 |
Middle Ear Neuroendocrine Tumor |
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Chronic noninfectious lymphadenopathy |
ORPHA:100084 |
Igg4-Related Submandibular Gland Disease |
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Retroperitoneal fibrosis, Renal insufficiency, Prostatitis, Enlarged lacrimal glands, Cholangitis... |
ORPHA:449432 |
American Trypanosomiasis |
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Lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:3386 |
Thymic Aplasia |
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Hypocalcemic tetany, T lymphocytopenia, Coombs-positive hemolytic anemia, Atypical or prolonged h... |
ORPHA:83471 |
Brucellosis |
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Leukopenia, Anemia, Abnormality of the liver, Liver abscess, Hypersplenism, Granuloma, Lung absce... |
ORPHA:1304 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
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Tubulointerstitial nephritis, Nephrotic syndrome, Hepatitis, Lymphocytosis, Lymphadenopathy, Eosi... |
ORPHA:139402 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Lymphadenopathy, Neoplasm of the liver |
ORPHA:424019 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
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Lymphadenitis, Liver abscess, Granulomatosis, Lymphadenopathy, Rectal abscess, Hepatomegaly, Impa... |
OMIM:233690 |
Hypocomplementemic Urticarial Vasculitis |
|
Hematuria, Lymphadenopathy, Hepatomegaly, Proteinuria, Renal insufficiency, Splenomegaly |
ORPHA:36412 |
Cutaneous Mastocytoma |
|
Lymphadenopathy |
ORPHA:79455 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leukocytosis, Orchitis, P... |
ORPHA:32960 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
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Anemia, Cirrhosis, Microvesicular hepatic steatosis, Polysplenia, Macronodular cirrhosis, Hepatic... |
OMIM:619418 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
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Pancreatic hypoplasia, Retroperitoneal fibrosis, Decreased response to growth hormone stimulation... |
OMIM:602782 |
Graft Versus Host Disease |
|
Jaundice, Hyperbilirubinemia, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Chronic hepa... |
ORPHA:39812 |
Marburg Hemorrhagic Fever |
|
Leukopenia, Renal insufficiency, Elevated circulating creatinine concentration, Jaundice, Hypokal... |
ORPHA:99826 |
Melkersson-Rosenthal Syndrome |
|
Lymphadenopathy, Oligosacchariduria |
ORPHA:2483 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Lymphadenopathy |
ORPHA:411703 |
Primary Hepatic Neuroendocrine Carcinoma |
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Intermittent jaundice, Hepatic cysts, Neoplasm of the liver, Elevated circulating alpha-fetoprote... |
ORPHA:100085 |
Tangier Disease |
|
Anemia, Hepatosplenomegaly, Hypocholesterolemia, Orange discolored tonsils, Chronic noninfectious... |
ORPHA:31150 |
Common Variable Immunodeficiency |
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Abnormality of the liver, Hemolytic anemia, Lymphopenia, Autoimmune thrombocytopenia, Lymphadenop... |
ORPHA:1572 |
Cutaneous Neuroendocrine Carcinoma |
|
Chronic noninfectious lymphadenopathy, Lymphoid leukemia |
ORPHA:79140 |
Waldenström Macroglobulinemia |
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Leukemia, Normocytic anemia, Abnormality of neutrophils, Lymphadenopathy, Hepatomegaly, Renal ins... |
ORPHA:33226 |
Immunodeficiency 82 With Systemic Inflammation |
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Reduced natural killer cell count, Anemia, T lymphocytopenia, B lymphocytopenia, Hepatitis, Decre... |
OMIM:619381 |
Granulomatous Disease, Chronic, X-Linked |
|
Lymphadenitis, Liver abscess, Granuloma, Granulomatosis, Lymphadenopathy, Rectal abscess, Hepatom... |
OMIM:306400 |
Q Fever |
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Anemia, Abnormality of the liver, Granuloma, Hepatitis, Hematuria, Hepatosplenomegaly, Lymphadeno... |
ORPHA:781 |
Malakoplakia |
|
Dysuria, Urinary urgency, Hematuria, Prostate neoplasm, Urinary bladder inflammation, Follicular ... |
ORPHA:556 |
Familial Mediterranean Fever |
|
Splenomegaly, Nephrotic syndrome, Lymphadenopathy, Nephropathy, Proteinuria, Orchitis, Nephrocalc... |
ORPHA:342 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Lymphadenopathy, Peritonitis, Hepatomegaly |
ORPHA:343 |
Igg4-Related Ophthalmic Disease |
|
Abnormality of the anterior pituitary, Retroperitoneal fibrosis, Prostatitis, Enlarged lacrimal g... |
ORPHA:449563 |
Sarcoidosis |
|
Abnormal lymph node morphology, Increased T cell count, Parotitis, Eosinophilia, Hepatomegaly, Th... |
ORPHA:797 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
T lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Lymphadenopathy, Tubulointerstitial ... |
OMIM:607944 |
Crimean-Congo Hemorrhagic Fever |
|
Leukopenia, Hemoperitoneum, Jaundice, Neutrophilia, Hematuria, Pancytopenia, Elevated circulating... |
ORPHA:99827 |
Selective Igm Deficiency |
|
Lymphadenitis, Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of CD8-... |
ORPHA:331235 |
Coccidioidomycosis |
|
Abnormality of the liver, Renal insufficiency, Granuloma, Abnormality of the male genitalia, Peri... |
ORPHA:228123 |
Hennekam Syndrome |
|
Pulmonary lymphangiectasia, Lymphopenia, Ectopic kidney, Lymphadenopathy, Horseshoe kidney, Hypoc... |
ORPHA:2136 |
Poems Syndrome |
|
Increased circulating prolactin concentration, Hypogonadism, Polycythemia, Lymphadenopathy, Throm... |
ORPHA:2905 |
Carney Triad |
|
Anemia, Lymphadenopathy, Mediastinal lymphadenopathy, Pheochromocytoma |
ORPHA:139411 |
Immunodeficiency 31C |
|
Lymphopenia, Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic ane... |
OMIM:614162 |
Farber Disease |
|
Hepatic fibrosis, Anemia, Hepatosplenomegaly, Lymphadenopathy, Thrombocytopenia, Intrahepatic cho... |
ORPHA:333 |
Immunodeficiency 87 And Autoimmunity |
|
Decreased CD4:CD8 ratio, Hemolytic anemia, Jaundice, Hypokalemia, Lymphopenia, Decreased proporti... |
OMIM:619573 |
Lymphangioleiomyomatosis |
|
Renal angiomyolipoma, Hematuria, Lymphadenopathy, Abnormal urinary color, Multiple renal cysts, A... |
ORPHA:538 |
Primary Sjögren Syndrome |
|
Tubulointerstitial nephritis, Leukopenia, Biliary cirrhosis, Renal insufficiency, Chronic active ... |
ORPHA:289390 |
Malt Lymphoma |
|
Anemia, Lymphadenopathy, Mediastinal lymphadenopathy |
ORPHA:52417 |
Duodenal Neuroendocrine Tumor |
|
Extrahepatic cholestasis, Increased hematocrit, Insulinoma, Lymphadenopathy, Iron deficiency anem... |
ORPHA:100076 |
Aicardi-Goutieres Syndrome 7 |
|
Anemia, Hemolytic anemia, Nephrotic syndrome, Hepatitis, Generalized lymphadenopathy, Pancytopeni... |
OMIM:615846 |
Gallbladder Neuroendocrine Tumor |
|
Intermittent jaundice, Extrahepatic cholestasis, Biliary tract neoplasm, Biliary tract obstructio... |
ORPHA:100086 |
Multiple Endocrine Neoplasia Type 2 |
|
Elevated urinary catecholamines, Primary hyperparathyroidism, Elevated urinary vanillylmandelic a... |
ORPHA:653 |
Idiopathic Hypereosinophilic Syndrome |
|
Anemia, Neutrophilia, Pancreatitis, Generalized lymphadenopathy, Portal fibrosis, Hepatosplenomeg... |
ORPHA:3260 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Tubulointerstitial nephritis, Retroperitoneal fibrosis, Nodular goiter, Abnormality of the subman... |
ORPHA:79078 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Elevated circulating thyroid-stimulating hormone concentration, Epididymitis, Lymphadenopathy, De... |
OMIM:256040 |
Ileal Neuroendocrine Tumor |
|
Iron deficiency anemia, Lymphadenopathy, Extrahepatic cholestasis, Hydronephrosis |
ORPHA:100078 |
Jejunal Neuroendocrine Tumor |
|
Iron deficiency anemia, Lymphadenopathy, Extrahepatic cholestasis, Hydronephrosis |
ORPHA:100077 |
Pulmonary Capillary Hemangiomatosis |
|
Lymphadenopathy, Mediastinal lymphadenopathy |
ORPHA:199241 |
Autosomal Recessive Malignant Osteopetrosis |
|
Anemia, Hypophosphatemia, Lymphadenopathy, Hepatomegaly, Hypocalcemia, Splenomegaly |
ORPHA:667 |
Leptospirosis |
|
Hyperproteinemia, Hepatitis, Acute kidney injury, Jaundice, Cellular urinary casts, Lymphadenopat... |
ORPHA:509 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Anemia, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:85408 |
Sarcoidosis, Susceptibility To, 1 |
|
Enlarged lacrimal glands, Generalized lymphadenopathy, Pancytopenia, Abnormal salivary gland morp... |
OMIM:181000 |
Behçet Disease |
|
Splenomegaly, Lymphadenopathy, Orchitis, Renal insufficiency, Pancreatitis |
ORPHA:117 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Abnormal lymph node morphology, Pancreatic adenocarcinoma, Neoplasm of the thymus, Pituitary cort... |
ORPHA:99889 |
Blau Syndrome |
|
Anemia, Abnormality of the liver, Stage 5 chronic kidney disease, Lymphadenopathy, Nephropathy, A... |
ORPHA:90340 |
Kawasaki Disease |
|
Hepatitis, Jaundice, Cholecystitis, Sterile pyuria, Leukocytosis, Cervical lymphadenopathy, Prote... |
ORPHA:2331 |
Adenocarcinoma Of The Anal Canal |
|
Lymphadenopathy, Neoplasm of the liver |
ORPHA:424016 |
Neuroendocrine Neoplasm Of Appendix |
|
Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone excess, Hepatomegaly, Ovarian ... |
ORPHA:100079 |
Chikungunya |
|
Lymphadenopathy, Cervical lymphadenopathy |
ORPHA:324625 |
Developmental And Epileptic Encephalopathy 70 |
|
Cryptorchidism |
OMIM:618298 |
African Trypanosomiasis |
|
Urinary incontinence, Jaundice, Hepatosplenomegaly, Lymphadenopathy, Abnormal prolactin level, He... |
ORPHA:3385 |
Infantile Spasms Syndrome |
|
|
ORPHA:3451 |