Monocyte Chemotactic Disorder |
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Cutaneous anergy |
OMIM:252250 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
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Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion |
OMIM:183350 |
Retinal Telangiectasia And Hypogammaglobulinemia |
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Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Immunodeficiency 24 |
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Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... |
OMIM:615897 |
Reticular Dysgenesis |
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Impaired T cell function, Lack of T cell function, Lymphopenia, Congenital agranulocytosis, Leuko... |
OMIM:267500 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
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Abnormality of T cell physiology |
OMIM:308220 |
Persistent Polyclonal B-Cell Lymphocytosis |
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Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
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Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... |
OMIM:616452 |
Candidiasis, Familial, 1 |
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Cutaneous anergy |
OMIM:114580 |
Caspase 8 Deficiency |
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Decreased circulating IgG level, Decreased circulating IgA level, Decreased CD4:CD8 ratio, Spleno... |
OMIM:607271 |
Immunodeficiency With Hyper-Igm, Type 3 |
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Decreased circulating IgG level, Impaired memory B cell generation, Absence of lymph node germina... |
OMIM:606843 |
Immunodeficiency 11A |
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Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi... |
OMIM:615206 |
Glycoprotein Storage Disease |
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Splenomegaly |
OMIM:232900 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
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Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function |
ORPHA:231393 |
Immunodeficiency, Common Variable, 7 |
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Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul... |
OMIM:614699 |
Wiskott-Aldrich Syndrome 2 |
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Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Defective T c... |
OMIM:614493 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
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Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Splenomegaly, T... |
OMIM:615513 |
Thrombocythemia 1 |
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Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce... |
OMIM:187950 |
Griscelli Syndrome, Type 2 |
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Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis |
OMIM:607624 |
Immunodeficiency, Common Variable, 2 |
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Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu... |
OMIM:240500 |
Immunodeficiency 64 With Lymphoproliferation |
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Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... |
OMIM:618534 |
Immunodeficiency 109 With Lymphoproliferation |
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Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho... |
OMIM:620282 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
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Decreased specific anti-polysaccharide antibody level, Decreased CD4:CD8 ratio, Decreased proport... |
OMIM:300853 |
Immunodeficiency, Common Variable, 1 |
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Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu... |
OMIM:607594 |
Hemoglobin H Disease |
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HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia |
OMIM:613978 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
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Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Ane... |
OMIM:615285 |
Immunodeficiency 18 |
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Reduced natural killer cell count, Lymphopenia, Abnormal circulating IgG level, Abnormal B cell c... |
OMIM:615615 |
Autoimmune Lymphoproliferative Syndrome |
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Reduced delayed hypersensitivity, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, ... |
OMIM:601859 |
Immunodeficiency 52 |
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Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulating IgA level, Abnorm... |
OMIM:617514 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
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Leukemia, Pancytopenia, Splenomegaly, Follicular hyperplasia, Increased circulating antibody leve... |
OMIM:614470 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
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Increased circulating IgE level, Decreased proportion of CD8-positive T cells, Reduced delayed hy... |
OMIM:617241 |
Alpha-Heavy Chain Disease |
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Ascites, Splenomegaly, Dysgammaglobulinemia, Anemia, Lymphadenopathy, Hepatomegaly |
ORPHA:100025 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
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Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia |
OMIM:206400 |
Mast Cell Sarcoma |
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Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy |
ORPHA:66661 |
Mu-Heavy Chain Disease |
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Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Anemia, Lymphadenopath... |
ORPHA:100024 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
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Hemophagocytosis, Hepatosplenomegaly, Abnormal natural killer cell physiology, Splenomegaly, Lymp... |
OMIM:613101 |
Immunodeficiency With Hyper-Igm, Type 1 |
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Increased circulating IgA level, Cirrhosis, Neutropenia, Hepatomegaly, Impaired Ig class switch r... |
OMIM:308230 |
Immunodeficiency 48 |
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Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation... |
OMIM:269840 |
Immunodeficiency 16 |
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Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly |
OMIM:615593 |
Beta-Thalassemia, Dominant Inclusion Body Type |
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Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... |
OMIM:603902 |
Agammaglobulinemia 8B, Autosomal Recessive |
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Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... |
OMIM:619824 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
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Absence of lymph node germinal center, Lack of T cell function, Increased circulating IgE level, ... |
ORPHA:277 |
Hemoglobin C-Beta-Thalassemia Syndrome |
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Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
Erythroleukemia, Familial, Susceptibility To |
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Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... |
OMIM:133180 |
Hyperbilirubinemia, Shunt, Primary |
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Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega... |
OMIM:237800 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
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Splenomegaly, Reduced delayed hypersensitivity, Chronic noninfectious lymphadenopathy, Follicular... |
OMIM:603909 |
Lymphoproliferative Syndrome, X-Linked, 1 |
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Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancyt... |
OMIM:308240 |
Red Cell Phospholipid Defect With Hemolysis |
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Splenomegaly, Reticulocytosis, Intermittent jaundice |
OMIM:179700 |
Immunodeficiency 89 And Autoimmunity |
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Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... |
OMIM:619632 |
Immunodeficiency 81 |
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Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Decreased prop... |
OMIM:619374 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
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Decreased circulating antibody level, Leukocytosis, Splenomegaly |
OMIM:618042 |
Portal Hypertension, Noncirrhotic, 1 |
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Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:617068 |
Immunodeficiency 60 And Autoimmunity |
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Decreased circulating IgG level, Decreased proportion of memory B cells, Decreased circulating Ig... |
OMIM:618394 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
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Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Abnor... |
ORPHA:331206 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
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Cutaneous anergy, Absent natural killer cells, Decreased lymphocyte proliferation in response to ... |
OMIM:600802 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
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Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Autoimmune hemolyt... |
OMIM:616100 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Abnormally low T cell receptor excision circle level, Reduced delayed hypersensitivity, Lymphopen... |
OMIM:242700 |
Immunodeficiency 96 |
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Decreased circulating IgG level, Increased mean corpuscular volume, Increased proportion of gamma... |
OMIM:619774 |
Erythrocytosis, Familial, 8 |
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Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... |
OMIM:222800 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
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Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Cholecystitis, Splenomegaly, No... |
OMIM:613470 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
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Abnormally low T cell receptor excision circle level, Panhypogammaglobulinemia, Increased circula... |
OMIM:602450 |
Spherocytosis, Type 5 |
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Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... |
OMIM:612690 |
Felty Syndrome |
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Splenomegaly, Neutropenia |
OMIM:134750 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
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Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Absen... |
ORPHA:35078 |
Hereditary Orotic Aciduria |
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Anemia, Splenomegaly, Impaired T cell function |
ORPHA:30 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
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Decreased lymphocyte proliferation in response to mitogen, Abnormal CD4:CD8 ratio, Lack of T cell... |
ORPHA:572 |
Mhc Class Ii Deficiency 1 |
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Cutaneous anergy, Panhypogammaglobulinemia, Biliary tract abnormality, Agammaglobulinemia, Neutro... |
OMIM:209920 |
Purine Nucleoside Phosphorylase Deficiency |
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Decreased lymphocyte proliferation in response to mitogen, Impaired T cell function, Lymphopenia,... |
OMIM:613179 |
Orotic Aciduria |
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Folate-unresponsive megaloblastic anemia, Impaired T cell function, Anisocytosis, Hypochromia, Po... |
OMIM:258900 |
Thrombocytopenia, Anemia, And Myelofibrosis |
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Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis |
OMIM:617441 |
Congenital Disorder Of Glycosylation, Type Iil |
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Decreased specific anti-polysaccharide antibody level, Impaired T cell function, Cholestasis, Pan... |
OMIM:614576 |
Cryohydrocytosis |
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Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis |
OMIM:185020 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
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Hepatomegaly, Splenomegaly, Impaired T cell function |
OMIM:201100 |
Elliptocytosis 1 |
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Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis |
OMIM:611804 |
Adult Acute Respiratory Distress Syndrome |
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Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration... |
ORPHA:70578 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Decreased lymphocyte proliferation in response to mitogen, Decreased proportion of naive T cells,... |
ORPHA:83471 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
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Hypochromic anemia, Increased circulating IgE level, Leukocytosis, Decreased T cell activation, D... |
OMIM:618213 |
Schimke Immuno-Osseous Dysplasia |
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Bone marrow hypocellularity, Abnormal proportion of naive CD4 T cells, Impaired T cell function, ... |
ORPHA:1830 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
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Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration... |
ORPHA:542323 |
Obesity Due To Congenital Leptin Deficiency |
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Decreased T cell activation, Decreased proportion of CD4-positive helper T cells |
ORPHA:66628 |
Obesity Due To Leptin Receptor Gene Deficiency |
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Decreased T cell activation, Decreased proportion of CD4-positive helper T cells |
ORPHA:179494 |
Wiskott-Aldrich Syndrome |
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Decreased mean platelet volume, Decreased specific anti-polysaccharide antibody level, Increased ... |
OMIM:301000 |
Macrophage Activation Syndrome |
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Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration... |
ORPHA:158061 |
Sarcoidosis, Susceptibility To, 1 |
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Pancytopenia, Abnormality of T cell physiology, Splenomegaly, Increased circulating antibody leve... |
OMIM:181000 |
Autoimmune Lymphoproliferative Syndrome |
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Bone marrow hypocellularity, Decreased circulating IgG level, Abnormal lymphocyte apoptosis, Decr... |
ORPHA:3261 |
Velocardiofacial Syndrome |
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Impaired T cell function |
OMIM:192430 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
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Abnormality of T cell physiology |
ORPHA:2237 |
22Q11.2 Deletion Syndrome |
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Cholelithiasis, Impaired T cell function, Splenomegaly, Hypoplasia of the thymus, Abnormality of ... |
ORPHA:567 |
Progeroid Short Stature With Pigmented Nevi |
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Impaired T cell function |
OMIM:176690 |
Digeorge Syndrome |
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Cholelithiasis, Impaired T cell function, Hepatic steatosis, Splenomegaly, Hypoplasia of the thym... |
OMIM:188400 |