Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
Plasma Fibronectin Deficiency |
|
Reduced circulating fibronectin level |
OMIM:614101 |
Monocyte Chemotactic Disorder |
|
Cutaneous anergy |
OMIM:252250 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... |
OMIM:202700 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia |
OMIM:615615 |
Immunodeficiency 50 |
|
Lymphopenia, Neutropenia, Decreased circulating antibody level |
OMIM:300988 |
Proximal Myopathy With Focal Depletion Of Mitochondria |
|
Elevated circulating creatine kinase concentration |
OMIM:600706 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Immunodeficiency 24 |
|
Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion of muco... |
OMIM:615897 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Splenomegaly, Panhypogammaglobulinemia, Hepatomegaly |
OMIM:269840 |
Specific Granule Deficiency 1 |
|
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... |
OMIM:245480 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy |
OMIM:183350 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ... |
OMIM:606843 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci |
OMIM:233670 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia |
OMIM:608898 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t... |
OMIM:611926 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Neutropenia |
OMIM:162700 |
Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R... |
OMIM:614493 |
Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:312863 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, T lymphocyt... |
OMIM:615513 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Immunodeficiency 15B |
|
Agammaglobulinemia, Monocytosis, Reduced natural killer cell count, Decreased circulating antibod... |
OMIM:615592 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Decreased circulating total IgM... |
OMIM:619281 |
Immunodeficiency 88 |
|
Eosinophilia |
OMIM:619630 |
Eosinophilia, Familial |
|
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
Reticular Dysgenesis |
|
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... |
OMIM:267500 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Follicul... |
OMIM:619846 |
Immunodeficiency 15A |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:618204 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... |
OMIM:619924 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Anemia, Leukopenia, Increased circulati... |
OMIM:615285 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Agammaglobulinemia, Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia |
OMIM:615214 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Cervical lymphadenopathy, Decreased circulating total IgM, B lymphocytopenia, Abnormally low T ce... |
OMIM:618987 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia |
ORPHA:60026 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Increased... |
OMIM:614470 |
Hereditary Progressive Mucinous Histiocytosis |
|
Mucinous histiocytosis, Lymphadenopathy |
ORPHA:158025 |
Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Eosinophilia, Myeloproliferative disorder |
OMIM:131440 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Hepatomegaly |
OMIM:606445 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Neutropenia |
OMIM:610798 |
Lymphoproliferative Syndrome 3 |
|
Decreased circulating antibody level, Lymphadenopathy, Hepatosplenomegaly, Partial absence of spe... |
OMIM:618261 |
Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration |
ORPHA:206599 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Inc... |
OMIM:602450 |
Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... |
ORPHA:859 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Abnormal proportion of... |
OMIM:212050 |
Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia |
OMIM:614323 |
Immunodeficiency 11A |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... |
OMIM:615206 |
Kimura Disease |
|
Increased circulating IgE level, Eosinophilia |
ORPHA:482 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... |
OMIM:619707 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Refractory anemia, Leukopenia, Monocytosis, Bone marrow hypocellularity |
OMIM:616871 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Neutropenia, Dec... |
OMIM:613502 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat... |
OMIM:617241 |
Immunodeficiency 75 With Lymphoproliferation |
|
Decreased proportion of class-switched memory B cells, Follicular hyperplasia, Lymphadenopathy, H... |
OMIM:619126 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating... |
OMIM:613501 |
Ichthyosis-Prematurity Syndrome |
|
Eosinophilia |
ORPHA:88621 |
Acute Myelomonocytic Leukemia |
|
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia |
ORPHA:517 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia |
OMIM:233650 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia |
OMIM:619164 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, Decreased proportion ... |
ORPHA:169154 |
Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Increased circulating IgM level, Monocytosis, Neutropenia, Monocytopen... |
ORPHA:2688 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Increased circulating ferritin concentratio... |
OMIM:613101 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased circulating IgE level, Lymphadenopathy, Increased proportion of memory T cells, Hepatos... |
OMIM:618982 |
Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280794 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ... |
OMIM:619802 |
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Elevated circulating creatine kinase concentration |
ORPHA:88635 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Decreased circulating IgG level, Absence of lymph node germinal center |
OMIM:235550 |
Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Anemia, Hepatomegaly |
ORPHA:294 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... |
OMIM:616452 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased circulating IgG level, Lymphopenia, Hepatomegaly, Decreased proportion of naive T cells... |
ORPHA:276 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti... |
OMIM:300853 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia, Decreased circulating IgG level |
OMIM:242870 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Skin rash, Pneumonia, Reduced natural... |
OMIM:300400 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
Immunodeficiency 104 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia, Hepatomegaly |
OMIM:608971 |
Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Candidiasis, Familial, 1 |
|
Cutaneous anergy |
OMIM:114580 |
Immunodeficiency 8 With Lymphoproliferation |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:615401 |
Reticuloendotheliosis, X-Linked |
|
Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly |
OMIM:312500 |
Caspase 8 Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:607271 |
Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia |
OMIM:618310 |
Juvenile Temporal Arteritis |
|
Leukocytosis, Eosinophilia |
ORPHA:26137 |
Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... |
OMIM:610163 |
Whim Syndrome 1 |
|
Decreased circulating IgG level, Neutropenia, Decreased circulating antibody level |
OMIM:193670 |
Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Absent circulating B cells, Decreased ci... |
OMIM:620282 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... |
OMIM:619220 |
Immunodeficiency 20 |
|
Reduced natural killer cell count, Reduced natural killer cell activity |
OMIM:615707 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level |
OMIM:247800 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Decreased circulating total IgM, Increased circulating IgE level, Eosinophilia |
OMIM:617638 |
Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt... |
OMIM:601859 |
Cd8 Deficiency, Familial |
|
Absence of CD8-positive T cells |
OMIM:608957 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Increased circulating antibod... |
ORPHA:100024 |
Immunodeficiency 32B |
|
Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, Abnormal ci... |
OMIM:226990 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Splenomegaly, Eosinophilia |
OMIM:607685 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia |
ORPHA:2582 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:2274 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell ac... |
OMIM:308240 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absence of lymph node germinal center, Increased circulating IgE level, Lack of T cell function, ... |
ORPHA:277 |
Immunodeficiency 46 |
|
Anemia, Neutropenia, Intermittent thrombocytopenia, Decreased circulating antibody level |
OMIM:616740 |
Thrombocytopenia 2 |
|
Leukocytosis, Thrombocytopenia |
OMIM:188000 |
Generalized Eruptive Histiocytosis |
|
Leukemia, Hypereosinophilia, Histiocytosis |
ORPHA:157991 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil a... |
OMIM:607594 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Generalized lymphadenopathy, P... |
OMIM:618986 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
Mantle Cell Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... |
OMIM:619824 |
Immunodeficiency 62 |
|
Autoimmune thrombocytopenia, Decreased circulating total IgM, Increased proportion of transitiona... |
OMIM:618459 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Impaired T cell function, Pure red cell aplasia, Autoimmune thromboc... |
OMIM:613179 |
Immunodeficiency 95 |
|
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level |
OMIM:619773 |
Trimethylaminuria |
|
Splenomegaly, Anemia, Neutropenia |
OMIM:602079 |
Cernunnos-Xlf Deficiency |
|
Decreased circulating antibody level, Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, ... |
ORPHA:169079 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Skin rash, Elevated circulating C-reactive protein concentration, Reduced natural k... |
OMIM:616050 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... |
OMIM:619041 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia, B lymphocytopenia |
OMIM:616941 |
Myeloproliferative Syndrome, Transient |
|
Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Increased circulating I... |
OMIM:618495 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia |
ORPHA:231393 |
Cyclic Neutropenia |
|
Cyclic neutropenia |
OMIM:162800 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Impaired n... |
OMIM:608203 |
O'Sullivan-Mcleod Syndrome |
|
Increased circulating antibody level, Eosinophilia |
ORPHA:99965 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ... |
OMIM:619705 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato... |
OMIM:308230 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis |
ORPHA:66661 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level |
OMIM:314000 |
Kerion Celsi |
|
Recurrent cutaneous abscess formation, Lymphadenopathy |
ORPHA:499 |
Immunodeficiency 44 |
|
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... |
OMIM:616636 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I... |
OMIM:150550 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Thrombocytosis, Anemia of ... |
ORPHA:75564 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
Peeling Skin Syndrome 1 |
|
Increased circulating IgE level, Eosinophilia |
OMIM:270300 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... |
OMIM:615559 |
Immunodeficiency 36 With Lymphoproliferation |
|
Decreased circulating IgG level, Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Incr... |
OMIM:616005 |
Griscelli Syndrome, Type 2 |
|
Reduced delayed hypersensitivity, Hemophagocytosis, Hepatosplenomegaly |
OMIM:607624 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophi... |
ORPHA:331206 |
Eosinophilopenia |
|
Decreased eosinophil count |
OMIM:131430 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating IgE level, Eosinophilia |
OMIM:618523 |
Immunodeficiency 102 |
|
Hepatomegaly, Partial absence of specific antibody response to Haemophilus influenzae type b (Hib... |
OMIM:301082 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... |
ORPHA:911 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... |
OMIM:301078 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt... |
OMIM:603909 |
Whim Syndrome 2 |
|
Chronic neutropenia |
OMIM:619407 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Lymphopenia, Eosinophilia, Hepatosplenomegaly, Increased circulating antibody level, Decreased pr... |
ORPHA:169160 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Eosinophil Peroxidase Deficiency |
|
Eosinophil nuclear hypersegmentation |
OMIM:261500 |
Immunodeficiency 67 |
|
Transient neutropenia, Increased circulating IgE level, Liver abscess |
OMIM:607676 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia |
ORPHA:2643 |
Burkitt Lymphoma |
|
Abnormality of the spleen, Abnormality of the pancreas, Abnormal lymph node morphology, Abnormali... |
ORPHA:543 |
Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia |
OMIM:617585 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:301081 |
Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Red... |
OMIM:619130 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Absent circulati... |
OMIM:613500 |
Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
Immune Thrombocytopenia |
|
Thrombocytopenia |
OMIM:188030 |
Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... |
ORPHA:98826 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Dysgammaglobulinemia, Splenomegaly, Lymphadenopathy, Ascites, Anemia |
ORPHA:100025 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Increased circulating IgE level, Eosinophilia, Cutaneous abscess |
OMIM:147060 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
Immunodeficiency, Common Variable, 7 |
|
Splenomegaly, Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic par... |
OMIM:614699 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level |
OMIM:616873 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas... |
OMIM:605258 |
Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Enlarged mesenteric lymph node, ... |
OMIM:209950 |
Agammaglobulinemia, X-Linked |
|
Hepatocellular carcinoma, Enteroviral hepatitis, Agammaglobulinemia, T lymphocytopenia, Lymph nod... |
OMIM:300755 |
Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, Decreased circulating antibod... |
ORPHA:397596 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Neutropenia |
ORPHA:70592 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas... |
OMIM:608106 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Neutropenia |
ORPHA:90023 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegal... |
OMIM:613011 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly |
ORPHA:46532 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... |
ORPHA:486 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr... |
OMIM:603552 |
Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99977 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Neutropenia |
OMIM:616022 |
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans |
|
Elevated circulating creatine kinase concentration |
OMIM:160570 |
Erythrocyte Lactate Transporter Defect |
|
Elevated circulating creatine kinase concentration |
OMIM:245340 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Absence of lymph node germinal center, Impaired Ig class switch reco... |
OMIM:608184 |
Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Immunodeficiency 16 |
|
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia |
OMIM:615593 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
Immunodeficiency 68 |
|
Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count |
OMIM:612260 |
Esophagitis, Eosinophilic, 2 |
|
Eosinophilia |
OMIM:613412 |
Esophagitis, Eosinophilic, 1 |
|
Eosinophilia |
OMIM:610247 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia, Increased circulating IgE level, Increased circulating IgG level, Decreased circula... |
OMIM:243700 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Schnitzler Syndrome |
|
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Increased circulating IgM level, Anemia |
ORPHA:37748 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly |
OMIM:619813 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... |
ORPHA:2585 |
Lymphangiectasia, Intestinal |
|
Decreased circulating IgG level, Intestinal lymphangiectasia, Lymphopenia |
OMIM:152800 |
Immunodeficiency 70 |
|
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... |
OMIM:618969 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Leukocytosis, Anemia |
OMIM:619398 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia |
OMIM:206400 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Lymphopenia, Increased circulating IgE level, Decreased circulating total IgM, Cutaneous abscess,... |
OMIM:619752 |
Pontocerebellar Hypoplasia, Type 14 |
|
Simplified gyral pattern, Thrombocytopenia, Chronic neutropenia |
OMIM:619301 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Absent p... |
OMIM:600802 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, B lymphocytopeni... |
OMIM:612692 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... |
OMIM:619375 |
Immunodeficiency, Common Variable, 2 |
|
Impaired T cell function, Follicular hyperplasia, Splenomegaly, Lymphoma, Lymphadenopathy, Neopla... |
OMIM:240500 |
Pontocerebellar Hypoplasia, Type 15 |
|
Thrombocytopenia, Simplified gyral pattern, Anemia, Chronic neutropenia |
OMIM:619302 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Pancytopenia, Autoimmune hemolytic anemia, Chronic hepatitis due to cryptosporidium infection, Ab... |
ORPHA:572 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Maculopapular exanthema,... |
ORPHA:540 |
Rosaï-Dorfman Disease |
|
Dysgammaglobulinemia, Anemia, Lymphadenopathy |
ORPHA:158014 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Decreased circulating IgG level, Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocyt... |
OMIM:616100 |
Wells Syndrome |
|
Eosinophilia |
ORPHA:901 |
Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Megaloblastic anemia, Decreased circulating antibody level, Thrombocy... |
ORPHA:90045 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Autoimmune hemolytic anemia, Atrophic gastritis, Recurrent skin infections, Recurrent pneumonia, ... |
OMIM:616576 |
Amegakaryocytic Thrombocytopenia, Congenital, 1 |
|
Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia |
OMIM:604498 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia |
OMIM:618963 |
Immunodeficiency 57 With Autoinflammation |
|
Perianal abscess, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Par... |
OMIM:618108 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor... |
OMIM:612840 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
T lymphocytopenia, Abnormally low T cell receptor excision circle level |
OMIM:618806 |
Immunodeficiency 13 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgE level, Anemia, Coombs-positi... |
OMIM:304790 |
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Eosinophilia, Abnormally low T cell receptor excision circle level |
OMIM:618092 |
Roifman Syndrome |
|
Hepatosplenomegaly, Decreased T cell activation, Eosinophilia, Decreased circulating antibody level |
ORPHA:353298 |
Thrombocythemia 1 |
|
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... |
OMIM:187950 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Increased circulating IgA level, Abnormal circulating IgM level, Lymphad... |
OMIM:618048 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
T lymphocytopenia, Panhypogammaglobulinemia, B lymphocytopenia |
OMIM:601457 |
Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
Malaria |
|
Anemia, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, Thrombocytopenia |
ORPHA:673 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut... |
OMIM:618849 |
Cinca Syndrome |
|
Leukocytosis, Eosinophilia, Anemia, Hepatosplenomegaly |
OMIM:607115 |
Bleeding Disorder, Platelet-Type, 16 |
|
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele... |
OMIM:187800 |
Immunodeficiency 17 |
|
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Chronic decreased ciru... |
OMIM:615607 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia, Increased circulating IgE level, Decreased circulating IgA level, Cutaneous abscess... |
OMIM:618282 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Sea-Blue Histiocyte Disease |
|
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis |
OMIM:269600 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis |
OMIM:118830 |
Leishmaniasis |
|
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Lymphadenopathy, Anemia... |
ORPHA:507 |
Immunodeficiency 19 |
|
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology |
OMIM:615617 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Reduction of neutrophil motility |
OMIM:266265 |
Bone Marrow Failure Syndrome 4 |
|
Eczema, Decreased circulating antibody level, Anemia, Leukopenia, Bone marrow hypocellularity, Th... |
OMIM:618116 |
Fanconi Anemia, Complementation Group G |
|
Thrombocytopenia, Leukemia, Anemia, Neutropenia |
OMIM:614082 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy, D... |
OMIM:615122 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... |
OMIM:242700 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Leukopenia, Decreased circulating to... |
OMIM:620210 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Seborrheic dermatitis, Agammaglobulinemia, Absent circulating B cells, Eczematoid dermatitis, Thr... |
OMIM:619693 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Leukocytosis, Increased circulating IgE level, Hypereosinophilia |
ORPHA:2902 |
Immunodeficiency 7 |
|
Splenomegaly, Autoimmune hemolytic anemia, Hypereosinophilia, Neutropenia |
OMIM:615387 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Decreased sp... |
OMIM:617006 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia |
OMIM:617243 |
Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Membranoproliferative glomerulonephritis, Hypoalbuminemia, Thrombocytopenia |
OMIM:615008 |
Iga Pemphigus |
|
Eosinophilia, Cutaneous abscess, Monoclonal elevation of circulating IgA, Increased circulating I... |
ORPHA:555905 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... |
OMIM:603554 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Eosinophilia |
OMIM:253600 |
Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... |
OMIM:237800 |
Eosinophilic Fasciitis |
|
Abnormal eosinophil morphology, Eosinophilia |
ORPHA:3165 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Leukocytosis, Decreased circulating antibody level |
OMIM:618042 |
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
Transcobalamin Ii Deficiency |
|
Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased... |
OMIM:275350 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos... |
ORPHA:98848 |
Igg4-Related Aortitis |
|
Hypereosinophilia, Increased circulating IgE level, Increased circulating antibody level, Increas... |
ORPHA:449400 |
Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Thrombocytopenia |
OMIM:619644 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly |
OMIM:619175 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... |
OMIM:300835 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Absent peripheral lymph nodes in presence of infection, Abnormal immunoglobulin level, Increased ... |
ORPHA:98813 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Splenomegaly, Lymphadenitis, Rec... |
OMIM:618935 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Splenomegaly, Lymphadenopathy, Hepatomegaly |
ORPHA:86893 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Splenomegaly, Leukocytosis, Lymphadenopathy |
OMIM:611762 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
Immunodeficiency 54 |
|
Splenomegaly, Reduced natural killer cell count, Lymphadenopathy, Hepatomegaly |
OMIM:609981 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Pgm3-Cdg |
|
Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Increased circulatin... |
ORPHA:443811 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Cholangitis, Biliary tract abnormality, Agammaglobulinemia, Neutropenia, Cutaneo... |
OMIM:209920 |
Immunodeficiency 108 With Autoinflammation |
|
Hyposegmentation of neutrophil nuclei, Impaired neutrophil chemotaxis |
OMIM:260570 |
Immunodeficiency 32A |
|
Lymphadenitis, Granuloma, Lymphadenopathy |
OMIM:614893 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereosinophilia, In... |
OMIM:617388 |
Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Neutropenia |
OMIM:266130 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgG level, T lymphocytopenia, Decreased circulating total IgM, Decreased ci... |
OMIM:619510 |
Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
Necrobiosis Lipoidica |
|
Granuloma, Abnormality of neutrophil physiology |
ORPHA:542592 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia |
OMIM:124900 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T... |
OMIM:619767 |
Bleeding Disorder, Platelet-Type, 24 |
|
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... |
OMIM:619271 |
Encephalopathy Due To Prosaposin Deficiency |
|
Splenomegaly, Hepatomegaly |
ORPHA:139406 |
Aggressive Systemic Mastocytosis |
|
Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomeg... |
ORPHA:98850 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Intermittent jaundice |
OMIM:179700 |
Immunodeficiency, Common Variable, 3 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i... |
OMIM:613493 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... |
OMIM:159550 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Absent specific antibody response, Lymphopenia, Severe B lymphocytopenia, Aplasia of the thymus, ... |
OMIM:102700 |
Folate Malabsorption, Hereditary |
|
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia |
OMIM:229050 |
Immunodeficiency 60 And Autoimmunity |
|
Pancytopenia, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgE, Decreased... |
OMIM:618394 |
Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... |
OMIM:617237 |
Classic Mycosis Fungoides |
|
Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy, Hepatomegaly |
ORPHA:2584 |
Immunodeficiency 92 |
|
Hepatomegaly, Cholangitis, Leukocytosis, Decreased proportion of class-switched memory B cells, S... |
OMIM:619652 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Pancytopenia, Hypertriglyceridemia, Skin rash, Reduced natural killer cell activity... |
OMIM:603553 |
Immunodeficiency 43 |
|
Decreased circulating IgG level, Lung abscess, Decreased specific antibody response to polysaccha... |
OMIM:241600 |
Selective Igm Deficiency |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Decreased proportion o... |
ORPHA:331235 |
Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:545 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... |
OMIM:619313 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Decreased circulating antibody level, Agammaglobulinemia, B lymphocytopenia, Rectal abscess, Neut... |
OMIM:601495 |
Sézary Syndrome |
|
Hepatomegaly, Abnormal immunoglobulin level, Splenomegaly, Lymphadenopathy, Abnormal lymphocyte m... |
ORPHA:3162 |
Immunodeficiency 23 |
|
Hemolytic anemia, Abscess, Eosinophilia, Increased circulating IgE level, Increased circulating I... |
OMIM:615816 |
Tularemia |
|
Brain abscess, Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Mediastinal lymphadenopa... |
ORPHA:3392 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... |
OMIM:606367 |
Netherton Syndrome |
|
Decreased circulating IgG level, Hypereosinophilia, Increased circulating IgE level |
OMIM:256500 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Decreased circulating antib... |
OMIM:300635 |
Niemann-Pick Disease, Type B |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Thrombocyt... |
OMIM:607616 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia |
OMIM:166990 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... |
ORPHA:101096 |
Platelet Signal Processing Defect |
|
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... |
OMIM:173590 |
Eosinophilic Gastroenteritis |
|
Leukocytosis, Eosinophilia, Anemia |
ORPHA:2070 |
Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:141000 |
Omenn Syndrome |
|
Eosinophilia, Splenomegaly, Leukocytosis, Abnormal lymphocyte morphology, Anemia |
ORPHA:39041 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Lymphadenopa... |
ORPHA:3226 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Hepatocellular carcinoma, Thrombocytopenia, Splenomegaly, H... |
ORPHA:158057 |
Unclassified Myelodysplastic Syndrome |
|
Acute myeloid leukemia, Leukocytosis, Bone marrow hypocellularity |
ORPHA:98827 |
Mastocytosis, Cutaneous |
|
Cutaneous mastocytosis |
OMIM:154800 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Neutropenia |
OMIM:610738 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Intestinal lymphangiectasia, Lymphopenia |
OMIM:207731 |
Griscelli Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Dec... |
ORPHA:381 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... |
OMIM:300291 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia |
ORPHA:79477 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
T lymphocytopenia, Increased circulating IgE level, B lymphocytopenia |
ORPHA:217390 |
Macrophage Activation Syndrome |
|
Increased inflammatory response, Increased circulating interleukin 6 concentration, Hypertriglyce... |
ORPHA:158061 |
Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:615715 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Splenomegaly, Spontaneous hemolytic crises, Nonspheroc... |
OMIM:613470 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse... |
ORPHA:35078 |
Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Splenomegaly, Fetal ascites, Hepatomegaly |
OMIM:619462 |
Immunodeficiency 66 |
|
Defective T cell proliferation |
OMIM:618847 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal eosinophil morphology |
ORPHA:724 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Increased circulating IgA level, Leukocytosis, Lymphadenopathy, Increased circulati... |
OMIM:617099 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
Hemochromatosis, Type 3 |
|
Lymphopenia, Cirrhosis, Anemia, Neutropenia |
OMIM:604250 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilia, Hepatosplenomegaly |
OMIM:618999 |
Boutonneuse Fever |
|
Cervical lymphadenopathy, Lymphadenopathy, Leukopenia, Increased circulating IgG level, Increased... |
ORPHA:83313 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Abnormality of the tonsils, Thrombocytopenia, Abnormality ... |
ORPHA:47 |
Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia |
OMIM:189800 |
Adenocarcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99976 |
Gray Platelet Syndrome |
|
Splenomegaly, Thrombocytopenia |
ORPHA:721 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic anemia, Chronic neutropenia, Auto... |
OMIM:614700 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Thrombocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, Anemia |
ORPHA:88 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Decreased... |
OMIM:617780 |
Angiostrongyliasis |
|
Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ... |
ORPHA:74 |
Tyrosinemia Type 1 |
|
Splenomegaly, Hepatocellular carcinoma, Hepatomegaly |
ORPHA:882 |
Immunodeficiency 89 And Autoimmunity |
|
Increased circulating IgA level, Increased circulating IgE level, Hypochromic microcytic anemia, ... |
OMIM:619632 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG... |
ORPHA:3261 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Splenomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia |
ORPHA:79312 |
Roifman Syndrome |
|
Splenomegaly, Eosinophilia |
OMIM:616651 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormality of the lymph... |
ORPHA:54251 |
Immunodeficiency, Common Variable, 14 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... |
OMIM:617765 |
Bleeding Disorder, Platelet-Type, 19 |
|
Thrombocytopenia, Macrothrombocytopenia, Anemia |
OMIM:616176 |
Aspergillosis |
|
Increased circulating IgE level, Eosinophilia, Neutropenia |
ORPHA:1163 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Splenomegaly, Abnormality of neuronal migration, Hepatomegaly |
ORPHA:2204 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Decreased circulating antibody level, Decreased circulating total IgM, B lymphocytopenia, Decreas... |
OMIM:614069 |
Progressive Multifocal Leukoencephalopathy |
|
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells |
ORPHA:217260 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... |
ORPHA:100026 |
Sea-Blue Histiocytosis |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia |
ORPHA:158029 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Lymphopenia, Eosinophilia, Decreased circulating antibody level |
OMIM:617425 |
Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis |
OMIM:618795 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
Acute Generalized Exanthematous Pustulosis |
|
Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia |
ORPHA:293173 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis,... |
ORPHA:86843 |
Cyclic Neutropenia |
|
Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Peritonitis, Recurrent tonsilliti... |
ORPHA:2686 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly, Jaundice, Lymphadenopathy, Anemia, Ascites, Thrombocytopenia |
ORPHA:858 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Absence of lymph node... |
ORPHA:79124 |
Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Pfapa Syndrome |
|
Splenomegaly, Lymphadenopathy, Hepatomegaly |
ORPHA:42642 |
Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume |
OMIM:615193 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... |
OMIM:615631 |
Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Macrothrombocytopenia, Decreased platelet glycoprotein Ib, Thrombocytopenia, Neutropenia |
OMIM:603585 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp... |
ORPHA:436159 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia, Decreased circulating antibody level |
ORPHA:1116 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:610539 |
Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, ... |
ORPHA:824 |
Ghosal Hematodiaphyseal Dysplasia |
|
Splenomegaly, Anemia |
ORPHA:1802 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
Neonatal Severe Primary Hyperparathyroidism |
|
Splenomegaly, Hepatomegaly |
ORPHA:417 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
Simplified gyral pattern, T lymphocytopenia, B lymphocytopenia, Pachygyria, Abnormal natural kill... |
OMIM:615966 |
Bleeding Disorder, Platelet-Type, 21 |
|
Psoriasiform dermatitis, Eczema, Increased mean platelet volume, Impaired ADP-induced platelet ag... |
OMIM:617443 |
Hypertriglyceridemia, Transient Infantile |
|
Splenomegaly, Hepatic fibrosis, Hepatic steatosis, Hepatomegaly |
OMIM:614480 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Anemia, Increased circulating antibody level, Lympho... |
OMIM:617591 |
Galactose Epimerase Deficiency |
|
Splenomegaly, Jaundice, Hepatomegaly |
ORPHA:79238 |
Systemic Lupus Erythematosus 17 |
|
Autoimmune thrombocytopenia, Thrombocytopenia, Malar rash, Leukopenia, Optic neuritis, Lymphopeni... |
OMIM:301080 |
Aicardi-Goutieres Syndrome 3 |
|
Chilblains, Thrombocytopenia, Hepatosplenomegaly |
OMIM:610329 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Macrothrombocytopenia, Gia... |
OMIM:155100 |
Trichothiodystrophy 3, Photosensitive |
|
Abdominal adhesions, Lymphopenia, Neutropenia, Increased circulating IgA level |
OMIM:616395 |
Autosomal Agammaglobulinemia |
|
Agammaglobulinemia, Hepatitis, Neutropenia |
ORPHA:33110 |
Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Reduced haptoglobin level, Thrombocytopenia, Spleno... |
OMIM:210250 |
Aicardi-Goutieres Syndrome 6 |
|
Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly |
OMIM:615010 |
Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia |
OMIM:598500 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Neutropenia |
OMIM:616949 |
Felty Syndrome |
|
Hepatomegaly, Thrombocytopenia, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity, Neutr... |
ORPHA:47612 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly |
OMIM:610293 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop... |
OMIM:615952 |
Cystic Echinococcosis |
|
Eosinophilia, Abscess, Increased circulating antibody level, Splenic cyst, Peritoneal abscess |
ORPHA:400 |
Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
Hermansky-Pudlak Syndrome 2 |
|
Hepatomegaly, Absent platelet dense granules, Reduced natural killer cell activity, Splenomegaly,... |
OMIM:608233 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia |
ORPHA:289916 |
Drug-Induced Lupus Erythematosus |
|
Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive... |
ORPHA:231111 |
Immunodeficiency 42 |
|
Splenomegaly, Hypoplasia of the thymus, Hepatomegaly |
OMIM:616622 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Fish-Eye Disease |
|
Splenomegaly, Lymphadenopathy, Hepatomegaly |
ORPHA:79292 |
Immunodeficiency 22 |
|
Pericarditis, Anemia, Decreased circulating total IgM, Panniculitis, Decreased circulating IgE, C... |
OMIM:615758 |
Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia |
OMIM:612527 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hepatomegaly, Abnormal dense granules, Thrombocytopeni... |
OMIM:214500 |
Aicardi-Goutieres Syndrome 5 |
|
Chilblains, Thrombocytopenia, Increased circulating interferon-gamma concentration |
OMIM:612952 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Increased circulating IgE level, Eosinophilia |
ORPHA:2314 |
Galactosemia Iii |
|
Splenomegaly, Jaundice, Hepatomegaly |
OMIM:230350 |
Immunodeficiency 96 |
|
Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T cell pr... |
OMIM:619774 |
Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia |
ORPHA:1980 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Thrombocytopenia 1 |
|
Eczema, Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet... |
OMIM:313900 |
Classic Hodgkin Lymphoma |
|
Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy, Hepatomegaly |
ORPHA:391 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Anemia, Bone marrow hypocellularity, Neutropenia, Polymicrogyria, Thrombocytopenia |
OMIM:614520 |
Cold Agglutinin Disease |
|
Splenomegaly, Hemolytic anemia, Lymphadenopathy, Hepatomegaly |
ORPHA:56425 |
Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Exocrine pancreatic insufficiency, Neutropenia |
OMIM:618752 |
Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Abnormality of neutrophil... |
ORPHA:229717 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
Pseudo-Von Willebrand Disease |
|
Intermittent thrombocytopenia |
OMIM:177820 |
Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites |
OMIM:271500 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
Portal Hypertension, Noncirrhotic, 1 |
|
Splenomegaly, Portal hypertension, Hepatomegaly |
OMIM:617068 |
Primary Intestinal Lymphangiectasia |
|
Decreased circulating IgG level, Peritoneal effusion, Abnormal lymphatic vessel morphology, Decre... |
ORPHA:90362 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia |
OMIM:616738 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Splenomegaly, Jaundice, Cholestasis, Hepatomegaly |
OMIM:620010 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
Vexas Syndrome |
|
Inflammatory abnormality of the skin, Macrocytic anemia, Neutrophilic infiltration of the skin, C... |
OMIM:301054 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Anterior uveitis, Skin rash, Colitis, Lymphopenia, Thrombocytopenia |
OMIM:616744 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Lymphocytosis, Hypochromic anem... |
ORPHA:514 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
Neonatal Lupus Erythematosus |
|
Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Splenomegaly, Ch... |
ORPHA:398124 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Pericarditis, Lupus nephritis, Leukopenia, Arthritis, Malar rash, Nephritis, Th... |
OMIM:152700 |
Hermansky-Pudlak Syndrome 9 |
|
Recurrent skin infections, Leukopenia, Abnormal platelet aggregation, Thrombocytopenia |
OMIM:614171 |
Common Variable Immunodeficiency |
|
Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Decreased circulati... |
ORPHA:1572 |
Slc35A1-Cdg |
|
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia |
ORPHA:238459 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytopenia, Splenome... |
OMIM:612541 |
Aicardi-Goutieres Syndrome 4 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia |
OMIM:610333 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:616860 |
Ataxia-Telangiectasia |
|
Lymphopenia, Aplasia/Hypoplasia of the thymus, Decreased circulating antibody level |
ORPHA:100 |
Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia |
ORPHA:529 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Splenomegaly, Pancytopenia |
OMIM:614979 |
Glut1 Deficiency Syndrome 2 |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:612126 |
Immunodeficiency 55 |
|
Absent natural killer cells, Lymphopenia, Lymphadenopathy, Neutropenia |
OMIM:617827 |
Schimke Immunoosseous Dysplasia |
|
Pancytopenia, Abnormal immunoglobulin level, Thrombocytopenia, Abnormal T cell morphology, Decrea... |
OMIM:242900 |
Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:616435 |
Giant platelet syndrome with thrombocytopenia |
|
Giant platelets, Thrombocytopenia |
OMIM:137560 |
Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Thrombocytopenia, Anemia, Neutropenia |
OMIM:617475 |
Babesiosis |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Leukopenia, Thrombocytopenia |
ORPHA:108 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia |
OMIM:613313 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Thrombocytopenia, Splenomegaly, Increased circulating IgM level, Leukopenia, Bone m... |
OMIM:617303 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Elevated circulating creatine kinase concentration, Thrombocytopenia |
OMIM:614727 |
Schimke Immuno-Osseous Dysplasia |
|
Impaired T cell function, Abnormal lymphocyte physiology, Thrombocytopenia, Decreased proportion ... |
ORPHA:1830 |
Meige Disease |
|
Lymph node hypoplasia, Absence of lymph node germinal center |
ORPHA:90186 |
Diffuse Cutaneous Mastocytosis |
|
Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormality of the liver, Myeloprolifer... |
ORPHA:79456 |
Bullous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280785 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Decreased circulating IgG level, Hepatomegaly, Decreased proportion of CD8-positive T cells, Incr... |
ORPHA:508533 |
Niemann-Pick Disease, Type A |
|
Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Lymphadenopathy, Sea-blue ... |
OMIM:257200 |
Loeffler Endocarditis |
|
Eosinophilia |
ORPHA:75566 |
Sneddon Syndrome |
|
Decreased circulating total IgM, Lymphopenia |
OMIM:182410 |
Leukodystrophy, Hypomyelinating, 24 |
|
B lymphocytopenia |
OMIM:619851 |
Heme Oxygenase 1 Deficiency |
|
Hemolytic anemia, Hepatomegaly, Asplenia, Cervical lymphadenopathy, Lymphadenopathy, Coombs-posit... |
OMIM:614034 |
X-Linked Sideroblastic Anemia |
|
Splenomegaly, Anemia |
ORPHA:75563 |
Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Anemia |
ORPHA:295 |
Progressive Familial Intrahepatic Cholestasis |
|
Splenomegaly, Jaundice, Cholestasis, Hepatomegaly |
ORPHA:172 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Cirrhosis, Neonatal cholestatic ... |
ORPHA:79301 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Moyamoya Disease With Early-Onset Achalasia |
|
Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
Bernard-Soulier Syndrome |
|
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Impaired ristocetin-induced platelet ag... |
OMIM:231200 |
Diamond-Blackfan Anemia 11 |
|
Bone marrow hypocellularity, Anemia of inadequate production, Neutropenia |
OMIM:614900 |
Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly |
OMIM:615085 |
Pelger-Huet Anomaly |
|
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... |
OMIM:169400 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Anemia, Abnormality of iron home... |
ORPHA:848 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Ascites |
OMIM:269920 |
Forsythe-Wakeling Syndrome |
|
Thrombocytopenia |
OMIM:613606 |
Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti... |
ORPHA:86839 |
Atypical Hemolytic Uremic Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:2134 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Leukopenia, Hepatic fibrosis, Bone marrow hypocellularity, Neutrop... |
OMIM:613989 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Macrocytic anemia, Hyperammonemia, Anemia, Leukopenia, Pancreatitis, Thrombocytopenia |
ORPHA:27 |
Adult-Onset Still Disease |
|
Hepatomegaly, Generalized lymphadenopathy, Neutrophilia, Splenomegaly, Leukocytosis, Hepatitis, B... |
ORPHA:829 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Hepatosplenomegaly, Decreased circulating antibody level, Lymphadenopathy, Microcytic anemia |
OMIM:619750 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Eosinophilia, Lymphocytosis |
ORPHA:139402 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Increased circulating ferritin concentration, Bone marrow hypocellularity, Thrombocytopenia, Hepa... |
ORPHA:210136 |
Thrombotic Thrombocytopenic Purpura |
|
Decreased serum creatinine, Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:54057 |
Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy |
OMIM:612783 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ... |
OMIM:616084 |
Igg4-Related Submandibular Gland Disease |
|
Eosinophilia, Increased circulating IgG4 level, Increased circulating IgE level, Increased circul... |
ORPHA:449432 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity |
OMIM:620133 |
Letterer-Siwe Disease |
|
Jaundice, Hepatosplenomegaly, Anemia, Neutropenia, Thrombocytopenia |
OMIM:246400 |
Gaucher Disease, Type Iii |
|
Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatomegaly |
OMIM:231000 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Lymphadenopathy |
OMIM:617772 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis |
OMIM:619658 |
Transaldolase Deficiency |
|
Hepatosplenomegaly, Anemia, Abnormal circulating glutamine concentration, Increased serum bile ac... |
ORPHA:101028 |
Hyper-Igd Syndrome |
|
Neutrophilia, Increased circulating IgA level, Splenomegaly, Leukocytosis, Lymphadenitis, Hepatos... |
OMIM:260920 |
Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology |
ORPHA:1164 |
Vici Syndrome |
|
Decreased circulating IgG level, Lymphopenia, Decreased proportion of CD4-positive helper T cells... |
OMIM:242840 |
Atelis Syndrome 1 |
|
Decreased lymphocyte proliferation in response to anti-CD3, Eczema, Bronchiectasis, Anemia, Leuko... |
OMIM:620184 |
Alveolar Echinococcosis |
|
Liver abscess, Eosinophilia, Abnormal spleen morphology, Increased circulating antibody level, An... |
ORPHA:284 |
Zika Virus Disease |
|
Maculopapular exanthema, Skin rash, Increased circulating IgM level, Arthritis, Conjunctivitis, M... |
ORPHA:448237 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233710 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... |
OMIM:235700 |
Rhabdoid Tumor |
|
Neoplasm of the liver, Thrombocytopenia, Anemia, Lymphadenopathy |
ORPHA:69077 |
Focal Facial Dermal Dysplasia Type Iv |
|
Abnormal mast cell morphology |
ORPHA:398189 |
Hepatoportal Sclerosis |
|
Portal hypertension, Nodular regenerative hyperplasia of liver, Hypersplenism, Splenomegaly, Port... |
ORPHA:64743 |
Thyrocerebrorenal Syndrome |
|
Nephritis, Thrombocytopenia |
ORPHA:3327 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Splenomegaly, Jaundice, Acholic stools, Portal fibrosis |
OMIM:619868 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Anemia, Neutropenia |
OMIM:617056 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Follicular hyperplasia, Increased circulating IgA level, Paratracheal lymphadenopathy, Leukopenia... |
OMIM:615934 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:612653 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... |
OMIM:616278 |
Bleeding Disorder, Platelet-Type, 20 |
|
Thrombocytopenia |
OMIM:616913 |
Cinca Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal g... |
ORPHA:1451 |
Von Willebrand Disease, Type 2 |
|
Thrombocytopenia |
OMIM:613554 |
Alpha-Fetoprotein, Hereditary Persistence Of |
|
Elevated circulating alpha-fetoprotein concentration |
OMIM:615970 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
Developmental And Epileptic Encephalopathy 66 |
|
Anemia, Neutropenia |
OMIM:618067 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233690 |
Amyloidosis, Familial Visceral |
|
Splenomegaly, Cholestasis, Hepatomegaly |
OMIM:105200 |
Macrocephaly/Autism Syndrome |
|
Splenomegaly, Decreased circulating antibody level, Lymphopenia, Hepatomegaly |
OMIM:605309 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat... |
OMIM:619463 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly |
OMIM:619183 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... |
ORPHA:35858 |
Diffuse Neonatal Hemangiomatosis |
|
Thrombocytopenia, Hypercalcemia, Anemia |
ORPHA:2123 |
Desmoplastic Small Round Cell Tumor |
|
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Mediastinal lymphadenopat... |
ORPHA:83469 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,... |
OMIM:300908 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease |
OMIM:214900 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosplenomegaly, Cholestatic liver d... |
OMIM:616828 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Splenomegaly, Hepatic bridging fibrosis, Hepatic fibrosis, Hepatomegaly |
OMIM:616719 |
Propionic Acidemia |
|
Hepatomegaly, Pancytopenia, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia |
OMIM:606054 |
Harderoporphyria |
|
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice |
OMIM:618892 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Simplified gyral pattern, Neutropenia |
OMIM:618253 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Aplasia of the thymus, Atypical or prolonged hepatitis, Ly... |
ORPHA:83471 |
Legionnaires Disease |
|
Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Bone marrow hypocellularity, Lymphopenia, Pan... |
ORPHA:549 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i... |
OMIM:615234 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:616649 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Hepatomegaly, Leukopenia, Neutropenia, Pancreatitis, Thrombocytopenia |
OMIM:251000 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis |
OMIM:182900 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Splenomegaly, Lymphadenopathy, Hepatomegaly |
ORPHA:85414 |
Noonan Syndrome 12 |
|
Lymphopenia, Thrombocytopenia |
OMIM:618624 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia |
OMIM:618398 |
Alpha-1-Antitrypsin Deficiency |
|
Splenomegaly, Cirrhosis, Hepatocellular carcinoma |
OMIM:613490 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Bone marrow hypocellularity, ... |
ORPHA:508542 |
Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Fetal ascites, Thrombocytopenia, Leukocytosis, Hepatitis, Cholest... |
ORPHA:292 |
Glycogen Storage Disease Ixb |
|
Splenomegaly, Increased hepatic glycogen content, Hepatomegaly |
OMIM:261750 |
Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
Hemophagocytic Syndrome Associated With An Infection |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagoc... |
ORPHA:158048 |
Whim Syndrome |
|
Lymphadenitis, Abnormal neutrophil morphology, Decreased circulating antibody level, Neutropenia,... |
ORPHA:51636 |
Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia |
OMIM:611490 |
Good Syndrome |
|
Abnormal leukocyte morphology, Sinusitis, Recurrent skin infections, Bronchiectasis, Decreased ci... |
ORPHA:169105 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Hepatomegaly, Macrocytic anemia, Transient neutropenia, Aplastic anemia, Acute... |
ORPHA:811 |
Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Lymphopenia, Neutropenia |
OMIM:614868 |
3-Methylglutaconic Aciduria Type 7 |
|
Hepatic steatosis, Bone marrow hypocellularity, Infection associated neutropenia, Neutropenia |
ORPHA:445038 |
Immunodeficiency 40 |
|
Recurrent pneumonia, T lymphocytopenia, Interstitial pneumonitis, Reduced antigen-specific T cell... |
OMIM:616433 |
Stuve-Wiedemann Syndrome 2 |
|
Eczema, Thrombocytopenia |
OMIM:619751 |
Igg4-Related Pachymeningitis |
|
Eosinophilia, Increased circulating IgG4 level |
ORPHA:449427 |
Neuraminidase Deficiency |
|
Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Ascites |
OMIM:256550 |
Orotic Aciduria |
|
Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... |
OMIM:258900 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah... |
OMIM:619849 |
Mevalonic Aciduria |
|
Normocytic hypoplastic anemia, Fluctuating splenomegaly, Fluctuating hepatomegaly, Leukocytosis, ... |
OMIM:610377 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology |
ORPHA:97290 |
Wt Limb-Blood Syndrome |
|
Thrombocytopenia, Pancytopenia, Hypoplastic anemia, Leukemia |
OMIM:194350 |
Cholesteryl Ester Storage Disease |
|
Splenomegaly, Jaundice, Cirrhosis, Hepatomegaly |
ORPHA:75234 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... |
OMIM:266200 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B... |
ORPHA:1414 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology |
ORPHA:319487 |
Icf Syndrome |
|
Anemia, Lymphopenia, Abnormality of neutrophils, Decreased circulating antibody level |
ORPHA:2268 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Leukopenia, Neutropenia, Anemia |
ORPHA:520 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Acute myeloid leukemia, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal dense g... |
OMIM:601399 |
Wolman Disease |
|
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Ascites, Anemia |
ORPHA:75233 |
Prolidase Deficiency |
|
Eczema, Splenomegaly, Recurrent pneumonia, Crusting erythematous dermatitis, Anemia, Increased ci... |
OMIM:170100 |
Osteopetrosis, Autosomal Dominant 3 |
|
Splenomegaly, Anemia, Hepatomegaly |
OMIM:618107 |
Gray Platelet Syndrome |
|
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ... |
OMIM:139090 |
Holocarboxylase Synthetase Deficiency |
|
Eczema, Hyperammonemia, Keratoconjunctivitis, Thrombocytopenia, Perioral eczema |
ORPHA:79242 |
Hereditary Orotic Aciduria |
|
Splenomegaly, Impaired T cell function, Anemia |
ORPHA:30 |
Thyrocerebroretinal Syndrome |
|
Nephritis, Thrombocytopenia |
OMIM:274240 |
Intermediate Osteopetrosis |
|
Osteomyelitis, Hepatosplenomegaly, Anemia, Hypocalcemia, Thrombocytopenia |
ORPHA:210110 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Leukopenia, Increased circulatin... |
ORPHA:77259 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... |
OMIM:616217 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... |
ORPHA:67044 |
Preeclampsia |
|
Elevated circulating creatinine concentration, Thrombocytopenia |
ORPHA:275555 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Splenomegaly, Hepatic steatosis, Hepatosplenomegaly |
OMIM:612526 |
Isovaleric Acidemia |
|
Leukopenia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:243500 |
Granulomatous Slack Skin |
|
Abnormal lymph node morphology |
ORPHA:33111 |
Chédiak-Higashi Syndrome |
|
Abnormal leukocyte morphology, Pancytopenia, Thrombocytopenia, Splenomegaly, Vacuolated lymphocyt... |
ORPHA:167 |
Joubert Syndrome 33 |
|
Splenomegaly |
OMIM:617767 |
Hurler-Scheie Syndrome |
|
Splenomegaly, Abnormality of the tonsils, Hepatomegaly |
ORPHA:93476 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt... |
OMIM:243150 |
Neonatal Alloimmune Neutropenia |
|
Jaundice, Neutropenia in presence of anti-neutropil antibodies |
ORPHA:464370 |
Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jau... |
OMIM:603903 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Hy... |
OMIM:617021 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Bone-marrow foam cells, Portal hypertension, Hypersplenism, Thrombocytopenia, Splen... |
OMIM:278000 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis |
ORPHA:66518 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612924 |
Acquired Purpura Fulminans |
|
Elevated circulating C-reactive protein concentration, Skin rash, Thrombocytopenia |
ORPHA:49566 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Increased circulating IgE... |
ORPHA:37042 |
Pseudo-Torch Syndrome 3 |
|
Increased circulating ferritin concentration, Leukocytosis, Lymphadenitis, Congenital thrombocyto... |
OMIM:618886 |
Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Hepatomegaly |
ORPHA:163596 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612926 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Normochromic anemia, Thrombocytopenia, Neutropenia |
OMIM:614857 |
Myelofibrosis |
|
Splenomegaly, Myeloproliferative disorder |
OMIM:254450 |
Hemochromatosis, Type 2A |
|
Splenomegaly, Cirrhosis, Hepatomegaly |
OMIM:602390 |
Farber Lipogranulomatosis |
|
Splenomegaly, Lipogranulomatosis, Hepatomegaly |
OMIM:228000 |
Relapsing Fever |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Elevated circu... |
ORPHA:91547 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Pancreatic steatosis, Thrombocytopenia, Pe... |
OMIM:617052 |
Elliptocytosis 1 |
|
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis |
OMIM:611804 |
Laryngeal Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy |
ORPHA:100083 |
Lig4 Syndrome |
|
Hepatomegaly, Pancytopenia, Leukocytosis, Lymphadenopathy, Acute leukemia |
ORPHA:99812 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Hepatomegaly, Pancytopenia, Impaired T cell function, Abnormal cortical gyration, Splenomegaly, D... |
OMIM:614576 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Eosinophilia |
ORPHA:183 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia |
ORPHA:169090 |
3-Methylglutaconic Aciduria, Type Viia |
|
Anisopoikilocytosis, Anemia, Neutropenia |
OMIM:619835 |
Dengue Fever |
|
Skin rash, Leukopenia, Hypoproteinemia, Thrombocytopenia |
ORPHA:99828 |
Ebola Hemorrhagic Fever |
|
Acute pancreatitis, Maculopapular exanthema, Hepatitis, Leukopenia, Increased circulating antibod... |
ORPHA:319218 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly |
ORPHA:664 |
Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Increased cir... |
ORPHA:36234 |
Fetal Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Thrombocytopenia |
ORPHA:85212 |
Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:619151 |
Ghosal Hematodiaphyseal Dysplasia |
|
Refractory anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:231095 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Pancytopenia, Increased blood urea nitrogen, Anemia, Leukopenia, Hyperuricemia, Hyp... |
OMIM:613845 |
Avian Influenza |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:454836 |
Fanconi Anemia, Complementation Group I |
|
Bone marrow hypocellularity, Neutropenia |
OMIM:609053 |
Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Hepatomegaly, Splenomegaly, Cholestasis, Decreased circulati... |
OMIM:300972 |
Methylcobalamin Deficiency Type Cble |
|
Macrocytic anemia, Pancytopenia, Abnormality of the liver, Increased mean corpuscular volume, Neu... |
ORPHA:2169 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Macrocytic anemia, Eosinophilia |
ORPHA:199299 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Hepatomegaly, Pancytopenia, Portal hypertension, Splenomegaly, Leukocytosis, Hepatosplenomegaly, ... |
OMIM:615688 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... |
OMIM:194380 |
Phosphoglycerate Dehydrogenase Deficiency |
|
Thrombocytopenia, Megaloblastic anemia |
OMIM:601815 |
Wolcott-Rallison Syndrome |
|
Hepatomegaly, Jaundice, Iron deficiency anemia, Abnormality of the liver, Lymphocytosis, Neutrope... |
ORPHA:1667 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase... |
OMIM:185000 |
Granulomatous Disease, Chronic, X-Linked |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:306400 |
Platelet Disorder, Undefined |
|
Impaired platelet aggregation, Thrombocytopenia |
OMIM:173420 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio... |
OMIM:153670 |
Mucoepithelial Dysplasia, Hereditary |
|
Eosinophilia |
OMIM:158310 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Splenomegaly, Anemia, Hepatomegaly |
OMIM:620296 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis |
ORPHA:59303 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612925 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Exocrine pancreatic insuff... |
OMIM:612714 |
Idiopathic Hypereosinophilic Syndrome |
|
Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Mye... |
ORPHA:3260 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Anisocytosis, S... |
OMIM:224120 |
Cohen Syndrome |
|
Leukopenia, Neutropenia |
OMIM:216550 |
Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia of inadequate produ... |
ORPHA:231222 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Portal hypertension,... |
OMIM:620005 |
Myh9-Related Disease |
|
Increased mean platelet volume, Giant platelets, Neutrophil inclusion bodies, Nephritis, Congenit... |
ORPHA:182050 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro... |
OMIM:602347 |
Onychotrichodysplasia And Neutropenia |
|
Lymphocytosis, Chronic neutropenia, Neutropenia |
OMIM:258360 |
Barth Syndrome |
|
Cyclic neutropenia, Granulocytopenia, Hypochromic microcytic anemia, Neutropenia |
OMIM:302060 |
3-Methylglutaconic Aciduria Type 4 |
|
Thrombocytopenia |
ORPHA:67048 |
Methylmalonic Aciduria, Cblb Type |
|
Hepatomegaly, Pancytopenia, Anemia, Neutropenia, Thrombocytopenia |
OMIM:251110 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Increased circulating ferritin concentration, Hypochromic microcytic anemia, Atopic dermatitis, T... |
ORPHA:3240 |
Glycogen Storage Disease Ixa1 |
|
Splenomegaly, Hepatomegaly |
OMIM:306000 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal T cell morphology, Decreased p... |
ORPHA:760 |
Thrombocytopenia-Absent Radius Syndrome |
|
Eosinophilia, Leukocytosis, Hepatosplenomegaly, Anemia, Decreased circulating antibody level, Thr... |
OMIM:274000 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... |
ORPHA:232 |
Non-Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141179 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Cervical lymphadenopathy, Decreased mean platelet volume, Lymphadenopathy, Lymphocytosis, Thrombo... |
OMIM:617718 |
Coccidioidomycosis |
|
Abscess, Eosinophilia, Abnormality of the spleen, Increased circulating IgG level, Increased circ... |
ORPHA:228123 |
Hermansky-Pudlak Syndrome 10 |
|
Splenomegaly, Hepatomegaly, Neutropenia |
OMIM:617050 |
Necrotizing Enterocolitis |
|
Peritonitis, Leukocytosis, Neutropenia, Ascites, Thrombocytopenia |
ORPHA:391673 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenitis, Cholestasis, Lymphadenopathy, Hepatic fi... |
OMIM:615895 |
Pseudomyxoma Peritonei |
|
Abnormal peritoneum morphology, Ascites, Lymphadenopathy |
ORPHA:26790 |
Pleural Mesothelioma |
|
Hepatomegaly, Lymphadenopathy |
ORPHA:50251 |
Incontinentia Pigmenti |
|
Leukocytosis, Eosinophilia |
OMIM:308300 |
Developmental Delay, Hypotonia, And Impaired Language |
|
Neutropenia |
OMIM:620012 |
Essential Thrombocythemia |
|
Splenomegaly, Abnormal platelet morphology, Acute leukemia |
ORPHA:3318 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... |
ORPHA:3202 |
Papa Syndrome |
|
Increased circulating antibody level, Lymphadenopathy |
ORPHA:69126 |
Castleman Disease |
|
Generalized lymphadenopathy, Abdominal mass, Follicular hyperplasia, Mediastinal lymphadenopathy,... |
ORPHA:160 |
Evans Syndrome |
|
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Jaundice, Auto... |
ORPHA:1959 |
Kikuchi-Fujimoto Disease |
|
Hepatomegaly, Generalized lymphadenopathy, Splenomegaly, Cervical lymphadenopathy, Lymphadenopath... |
ORPHA:50918 |
Ataxia-Telangiectasia |
|
Decreased circulating IgG level, Decreased circulating IgG2 level, Acute lymphoblastic leukemia, ... |
OMIM:208900 |
Mixed Connective Tissue Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Leuko... |
ORPHA:809 |
Poikiloderma With Neutropenia |
|
Splenomegaly, Leukopenia, Neutropenia |
OMIM:604173 |
Pneumocystosis |
|
Increased circulating antibody level, Abnormal neutrophil count |
ORPHA:723 |
Bleeding Disorder, Platelet-Type, 17 |
|
Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll... |
OMIM:187900 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... |
OMIM:601847 |
Obesity Due To Congenital Leptin Deficiency |
|
Decreased proportion of CD4-positive helper T cells, Decreased T cell activation |
ORPHA:66628 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Portal hypertension, Thrombocytopenia, Lymphopenia, Anemia |
OMIM:620365 |
Pediatric Systemic Lupus Erythematosus |
|
Lymphadenopathy, Leukopenia, Ascites, Microangiopathic hemolytic anemia, Lymphopenia, Thrombocyto... |
ORPHA:93552 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Thrombocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, Leuk... |
OMIM:227645 |
Rapidly Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141184 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Mandibular osteomyelitis, Hepatospleno... |
OMIM:259710 |
Cutaneous Neuroendocrine Carcinoma |
|
Lymphoid leukemia, Chronic noninfectious lymphadenopathy |
ORPHA:79140 |
Sepsis In Premature Infants |
|
Hepatomegaly, Splenomegaly, Leukocytosis, Jaundice, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:90051 |
American Trypanosomiasis |
|
Splenomegaly, Lymphadenopathy, Hepatomegaly |
ORPHA:3386 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Thrombocytopenia, Persistence of hemoglobin F... |
OMIM:260400 |
Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... |
OMIM:614162 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased proportion of CD4-positive helper T cells, Decreased T cell activation |
ORPHA:179494 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Hepatomegaly, Pancytopenia, Megaloblastic anemia, Anemia, Neutropenia, Thrombocytopenia |
OMIM:277380 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Autoimmune hemolytic anemia |
ORPHA:90037 |
Kaposi Sarcoma |
|
Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy |
ORPHA:33276 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Anemia, Hypopl... |
OMIM:185070 |
Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Congenital hypopla... |
OMIM:250250 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Thrombocytopenia, Elevated circulating creatinine concentration, Hypoalbuminemia, Anemia |
OMIM:608104 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Follicular hyperplasia, Splenomegaly, Hepatitis, Lymphaden... |
OMIM:619381 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Perianal abscess, Leukocytosis, Increased circulating IgE level, Increased circulating IgG level,... |
OMIM:618213 |
Waldenström Macroglobulinemia |
|
Normocytic anemia, Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Lymphadenopathy, Leuke... |
ORPHA:33226 |
Kasabach-Merritt Syndrome |
|
Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Leukopenia, Hepatic hema... |
ORPHA:2330 |
Quebec Platelet Disorder |
|
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation |
OMIM:601709 |
Pseudo-Torch Syndrome 1 |
|
Hepatomegaly, Splenomegaly, Jaundice, Lissencephaly, Pachygyria, Polymicrogyria, Thrombocytopenia |
OMIM:251290 |
Congenital Pulmonary Lymphangiectasia |
|
Splenomegaly, Ascites, Hepatomegaly |
ORPHA:2414 |
Multiple Myeloma |
|
Increased circulating IgA level, Splenomegaly, Decreased circulating antibody level, Lymphadenopa... |
ORPHA:29073 |
Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le... |
ORPHA:906 |
Gaucher Disease, Type I |
|
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:230800 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Hepatic necrosis, Anemia, Leukopenia, Increased mean corpuscular volume, Bone ma... |
OMIM:127550 |
Congenital Rubella Syndrome |
|
Splenomegaly, Thrombocytopenia, Skin rash, Anemia |
ORPHA:290 |
Cog4-Cdg |
|
Hypercholesterolemia, Thrombocytopenia, Hepatosplenomegaly |
ORPHA:263501 |
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis |
OMIM:300367 |
Thrombocytopenia, Paris-Trousseau Type |
|
Thrombocytopenia |
OMIM:188025 |
Methylmalonic Aciduria, Cbla Type |
|
Hepatomegaly, Pancytopenia, Anemia, Neutropenia, Thrombocytopenia |
OMIM:251100 |
Igg4-Related Ophthalmic Disease |
|
Increased circulating IgE level, Eosinophilia, Increased circulating IgG4 level |
ORPHA:449563 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Splenomegaly, Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia |
ORPHA:90033 |
Incontinentia Pigmenti |
|
Eosinophilia |
ORPHA:464 |
Immunodeficiency 27B |
|
Generalized lymphadenopathy |
OMIM:615978 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Abnormal T cell subset distribution, Decreased circulating antibody level, Decreased circulating ... |
ORPHA:221139 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M... |
OMIM:235400 |
Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Micronodular cirrhosis, Hepatosplenomegaly, Anemia, Hep... |
OMIM:606003 |
Chronic Granulomatous Disease |
|
Hepatomegaly, Liver abscess, Abnormality of neutrophils, Splenomegaly, Mediastinal lymphadenopathy |
ORPHA:379 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia, Leukocytosis, Hashimoto thyroiditis, Thrombocytopenia |
ORPHA:83601 |
Scrub Typhus |
|
Splenomegaly, Lymphadenopathy |
ORPHA:83317 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Splenomegaly, Hepatomegaly, Impaired T cell function |
OMIM:201100 |
Fusariosis |
|
Brain abscess, Lung abscess, Abnormality of the spleen, Peritonitis, Abnormality of the liver, Gr... |
ORPHA:228119 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Abnormality of the pancreas, Lymphopenia, Anemia |
ORPHA:935 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... |
ORPHA:288 |
Overlap Myositis |
|
Elevated circulating creatine kinase concentration, Leukopenia, Arthritis, Rheumatoid arthritis, ... |
ORPHA:206572 |
Brucellosis |
|
Elevated circulating C-reactive protein concentration, Knee osteoarthritis, Leukopenia, Increased... |
ORPHA:1304 |
3-Methylglutaconic Aciduria, Type Viib |
|
Leukopenia, Hepatic steatosis, Thrombocytopenia, Neutropenia |
OMIM:616271 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Splenomegaly, Jaundice, Intrahepatic cholestasis, Hepatomegaly |
OMIM:235555 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Neutropenia, Hepatocellular carcinoma, Pancreati... |
OMIM:232220 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,... |
OMIM:211600 |
Autoimmune Hepatitis |
|
Viral hepatitis, Acute hepatitis, Splenomegaly, Fulminant hepatitis, Jaundice, Sclerosing cholang... |
ORPHA:2137 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Hepatomegaly, Neutropenia, Microcytic anemia |
OMIM:251900 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased hepatic glycogen content |
OMIM:613027 |
Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Hepatomegaly, Neutropenia, Hyperechogenic pancreas, Thrombocytopenia, Exocrine... |
OMIM:617941 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Thrombocytopenia, Megaloblastic anemia |
ORPHA:49827 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Schistocytosis, Elevated circulating creatinine concentration, Microangiopathic ... |
OMIM:274150 |
Osteopetrosis, Autosomal Recessive 1 |
|
Pancytopenia, Osteomyelitis, Splenomegaly, Anemia, Hypocalcemia, Thrombocytopenia |
OMIM:259700 |
Hennekam Syndrome |
|
Lymphopenia, Pachygyria, Splenomegaly, Pulmonary lymphangiectasia, Lymphadenopathy, Decreased cir... |
ORPHA:2136 |
Q Fever |
|
Hepatomegaly, Splenomegaly, Hepatitis, Hepatosplenomegaly, Anemia, Lymphadenopathy, Abnormality o... |
ORPHA:781 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:613987 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Lymphopenia |
ORPHA:391307 |
Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:600901 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Autoimmune thrombocytopenia, Lymphadenopathy, T lymphocytopenia, Neutropenia, Lymphopenia |
OMIM:607944 |
Pearson Marrow-Pancreas Syndrome |
|
Hepatomegaly, Sideroblastic anemia, Pancytopenia, Pancreatic fibrosis, Thrombocytopenia, Reticulo... |
OMIM:557000 |
Hereditary Spherocytosis |
|
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... |
ORPHA:822 |
Niemann-Pick Disease, Type C1 |
|
Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Sea-blue histiocytosis, Prolon... |
OMIM:257220 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia |
OMIM:613839 |
Moyamoya Disease 6 With Or Without Achalasia |
|
Thrombocytopenia |
OMIM:615750 |
Adams-Oliver Syndrome 6 |
|
Splenomegaly, Hepatic fibrosis, Portal hypertension |
OMIM:616589 |
Sarcoidosis, Susceptibility To, 2 |
|
Splenomegaly, Mediastinal lymphadenopathy, Hepatomegaly |
OMIM:612387 |
Smith-Kingsmore Syndrome |
|
Thrombocytopenia, Decreased circulating IgA level |
OMIM:616638 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Thrombocytopenia |
OMIM:249270 |
Mycosis Fungoides |
|
Lymphadenopathy |
OMIM:254400 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Decreased circulating IgG level, Neutropenia |
OMIM:271510 |
Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612562 |
Familial Pancreatic Carcinoma |
|
Pancreatic adenocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy, Hepatosplenomegal... |
ORPHA:1333 |
Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:227650 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Hepatomegaly, Abnormal lymph node morphology, Lymphadenopathy, Hepatosplenomegaly, Anemia |
ORPHA:85450 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Autoimmune hemolytic anemia, Inflammatory abnormality of the skin, Eczema, Autoimmune thrombocyto... |
ORPHA:391487 |
Majeed Syndrome |
|
Hepatomegaly, Congenital hypoplastic anemia, Splenomegaly, Leukocytosis, Hypochromic microcytic a... |
ORPHA:77297 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Thrombocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Leukemia, Neutrop... |
OMIM:227646 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Giant cell hepatitis, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Acholic sto... |
OMIM:607765 |
Igg4-Related Kidney Disease |
|
Eosinophilia, Increased circulating IgG4 level, Increased circulating IgE level, Increased circul... |
ORPHA:449395 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ... |
ORPHA:53035 |
Pearson Syndrome |
|
Reticulocytosis, Hepatomegaly, Pancytopenia, Pancreatic fibrosis, Thrombocytopenia, Splenomegaly,... |
ORPHA:699 |
Catastrophic Antiphospholipid Syndrome |
|
Myocarditis, Arthritis, Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia, Abno... |
ORPHA:464343 |
Psoriasis 14, Pustular |
|
Leukocytosis, Neutrophilia |
OMIM:614204 |
Diffuse Alveolar Hemorrhage |
|
Thrombocytopenia, Leukocytosis, Elevated circulating creatinine concentration, Anemia |
ORPHA:90060 |
Cartilage-Hair Hypoplasia |
|
Hepatomegaly, Abnormality of the pancreas, Decreased circulating antibody level, Neutropenia, Anemia |
ORPHA:175 |
Trichothiodystrophy |
|
Increased mean corpuscular hemoglobin concentration, Panhypogammaglobulinemia, Anemia, Neutropenia |
ORPHA:33364 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Hepatomegaly, Peritonitis, Increased circulating IgA level, Lymphadenopathy |
ORPHA:343 |
Sengers Syndrome |
|
Thrombocytopenia |
OMIM:212350 |
Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Leukopenia, Tubulointerstitial nephritis, Abnormal circu... |
ORPHA:470 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Reticulocytosis, Acute colitis, Leukocytosis, Schistocytosis, Elevated circulating ... |
ORPHA:90038 |
Hypocomplementemic Urticarial Vasculitis |
|
Splenomegaly, Ascites, Lymphadenopathy, Hepatomegaly |
ORPHA:36412 |
Shigellosis |
|
Hyponatremia, Acute colitis, Pneumonia, Myocarditis, Leukocytosis, Peritonitis, Abnormal blood io... |
ORPHA:810 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Elevated circulating acylcarnitine concentration, Hyperammonemia, Decreased circulating carnitine... |
ORPHA:99901 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Reduced number of intrahepatic bile ducts, Neutropenia, Megaloblastic anemia |
ORPHA:79284 |
Graft Versus Host Disease |
|
Jaundice, Lymphadenopathy, Chronic hepatitis, Hepatosplenomegaly, Hemophagocytosis, Acute hepatitis |
ORPHA:39812 |
Holocarboxylase Synthetase Deficiency |
|
Hyperammonemia, Skin rash, Thrombocytopenia |
OMIM:253270 |
Poems Syndrome |
|
Lymphadenopathy, Increased circulating antibody level, Thrombocytosis, Ascites, Polycythemia, Vis... |
ORPHA:2905 |
Cryptogenic Organizing Pneumonia |
|
Leukocytosis, Neutrophilia |
ORPHA:1302 |
Budd-Chiari Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Cholecystitis, Cirrhosis,... |
ORPHA:131 |
Tufted Angioma |
|
Anemia, Thrombocytopenia |
ORPHA:1063 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Abnormal lymphocyte morphology, Decreased circulating antibody level, Severe B lymphocytopenia, A... |
ORPHA:293978 |
Lymphatic Filariasis |
|
Hypereosinophilia |
ORPHA:2035 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Hepatitis, Acholic stools, Bile d... |
OMIM:613812 |
Snakebite Envenomation |
|
Hyponatremia, Thrombocytopenia |
ORPHA:449285 |
Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Splenomegaly, Abnormality of the lymphatic system, Hepatosplenomegaly, Anemia, ... |
ORPHA:464329 |
Mirage Syndrome |
|
Anemia, Leukopenia, Hypoplastic spleen, Lymphopenia, Thrombocytopenia |
OMIM:617053 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Normochromic anemia, Elevated circulating creatine kinase concentration, Thrombocytopenia |
OMIM:618775 |
Insulin-Resistance Syndrome Type B |
|
Abnormal circulating lipid concentration, Skin rash, Pneumonia, Increased circulating IgA level, ... |
ORPHA:2298 |
Braddock-Carey Syndrome 2 |
|
Thrombocytopenia |
OMIM:619981 |
Alg12-Cdg |
|
Hyponatremia, Partial absence of specific antibody response to Haemophilus influenzae type b (Hib... |
ORPHA:79324 |
Immune Thrombocytopenia |
|
Thrombocytopenia |
ORPHA:3002 |
Infantile Liver Failure Syndrome 3 |
|
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hepatic bridging fibrosis, Hepatic steatosis |
OMIM:618641 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Neutropenia |
OMIM:615471 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Enteroviral hepatitis, Panhypogammaglobulinemia, Absent circulating B cells |
OMIM:307200 |
Osteopetrosis, Autosomal Recessive 7 |
|
Hepatomegaly, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgG level, Ane... |
OMIM:612301 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Cardiomegaly, Retroperitoneal fibrosis, Splenomegaly, Cervical lymphadenopathy, Hep... |
OMIM:602782 |
Wilson Disease |
|
Splenomegaly, Hepatitis, Anemia, Arthritis, Acute hepatitis, Thrombocytopenia |
ORPHA:905 |
Klatskin Tumor |
|
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy |
ORPHA:99978 |
Saul-Wilson Syndrome |
|
Neutropenia |
OMIM:618150 |
Rift Valley Fever |
|
Skin rash, Hepatitis, Uveitis, Anemia, Increased circulating IgG level, Increased circulating IgM... |
ORPHA:319251 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Elevated circulating creatine kinase concentration, Hypophosphatemia, Anemia, Hypomagnesemia, Hyp... |
OMIM:619743 |
Acute Radiation Syndrome |
|
Lymphopenia, Granulocytopenia, Thrombocytopenia |
ORPHA:454831 |
Stt3B-Cdg |
|
Thrombocytopenia |
ORPHA:370924 |
Mogs-Cdg |
|
Decreased circulating antibody level, Hepatosplenomegaly, Decreased circulating total IgM, Decrea... |
ORPHA:79330 |
Herpes Simplex Virus Encephalitis |
|
Leukocytosis, Neutrophilia |
ORPHA:1930 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Splenomegaly, Neutrophilia, Abscess, Hepatomegaly |
OMIM:612852 |
Malt Lymphoma |
|
Mediastinal lymphadenopathy, Anemia, Lymphadenopathy |
ORPHA:52417 |
Tangier Disease |
|
Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Hepatosplenomegaly, Anemia, Lef... |
ORPHA:31150 |
Alg8-Cdg |
|
Hyponatremia, Thrombocytopenia, Anemia |
ORPHA:79325 |
Niemann-Pick Disease, Type C2 |
|
Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Jaundice, Sea-blue histiocytos... |
OMIM:607625 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Splenomegaly, Microvesicular hepatic steatosis, Macronodular cirr... |
OMIM:619418 |
Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Pancytopenia, Atrophic gastritis, Skin rash, Chilblains, Pneumonia, Splenomegal... |
OMIM:615846 |
Middle Ear Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy |
ORPHA:100084 |
Von Willebrand Disease, Type 3 |
|
Impaired platelet aggregation, Thrombocytopenia |
OMIM:277480 |
Acquired Hypertrichosis Lanuginosa |
|
Lymphadenopathy |
ORPHA:2221 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Thrombocytopenia |
OMIM:615597 |
Syndromic Diarrhea |
|
Hepatomegaly, Increased mean platelet volume, Splenomegaly, Abnormality of the liver, Hypoplasia ... |
ORPHA:84064 |
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
Thrombocytopenia |
OMIM:616577 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... |
ORPHA:124 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Hepatomegaly, Mediastinal lymphadenopathy, Leukocytosis, Cholestasis, Hilar lymph node enlargement |
OMIM:620233 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
Thrombocytopenia 3 |
|
Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
Hermansky-Pudlak Syndrome 5 |
|
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytopenia |
OMIM:614074 |
Lujo Hemorrhagic Fever |
|
Maculopapular exanthema, Skin rash, Elevated circulating C-reactive protein concentration, Myocar... |
ORPHA:319213 |
Cutaneous Mastocytoma |
|
Lymphadenopathy |
ORPHA:79455 |
Nephroblastoma |
|
Neoplasm of the liver, Lymphadenopathy |
ORPHA:654 |
Pediatric-Onset Graves Disease |
|
Hepatomegaly, Splenomegaly, Jaundice, Neutropenia in presence of anti-neutropil antibodies, Throm... |
ORPHA:525731 |
Lig4 Syndrome |
|
Pancytopenia, Psoriasiform dermatitis, Acute lymphoblastic leukemia, Chronic sinusitis, Thrombocy... |
OMIM:606593 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Pancytopenia, Cholangitis, Portal hypertension, Hypersplenism, Hepatitis, Neutropenia in presence... |
ORPHA:228426 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Myositis, Chronic active hepatitis, Leukopenia, Tubulointerstitial nephritis, ... |
ORPHA:289390 |
Lysinuric Protein Intolerance |
|
Hypolysinemia, Splenomegaly, Increased circulating ferritin concentration, Intraalveolar phosphol... |
OMIM:222700 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Neoplasm of the liver, Lymphadenopathy |
ORPHA:424019 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia |
OMIM:605432 |
Bloom Syndrome |
|
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Abscess, Recurrent tonsilli... |
ORPHA:125 |
Reynolds Syndrome |
|
Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Lymphopenia |
OMIM:613471 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Leukopenia, Elevated circulating creatine kinase concentration, Thrombocytopenia |
OMIM:301056 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated circulating alpha-fetoprotein concentration, Splenomegaly, Hypoalbuminemia, Hyperbilirub... |
OMIM:251880 |
Farber Disease |
|
Intrahepatic cholestasis with episodic jaundice, Hepatosplenomegaly, Anemia, Lymphadenopathy, Hep... |
ORPHA:333 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Conjugated hyperbilirubinemia, Giant cell hepatitis, Thrombocytopenia |
OMIM:208085 |
Carney Triad |
|
Mediastinal lymphadenopathy, Ascites, Anemia, Lymphadenopathy |
ORPHA:139411 |
Apolipoprotein C-Ii Deficiency |
|
Splenomegaly, Pancreatitis, Hepatomegaly |
OMIM:207750 |
Acute Interstitial Pneumonia |
|
Reduced hematocrit, Lymphadenopathy |
ORPHA:79126 |
Gaucher Disease, Type Iiic |
|
Splenomegaly, Pancytopenia, Cardiomegaly, Hepatomegaly |
OMIM:231005 |
Familial Thrombocytosis |
|
Acute myeloid leukemia, Thrombocytosis, Chronic myelogenous leukemia, Splenomegaly |
ORPHA:71493 |
Leigh Syndrome |
|
Anemia, Neutropenia |
ORPHA:506 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, H... |
OMIM:607626 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Neutropenia |
OMIM:618005 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,... |
OMIM:208540 |
Adams-Oliver Syndrome 5 |
|
Hypersplenism, Splenomegaly, Portal vein thrombosis, Right ventricular hypertrophy |
OMIM:616028 |
Marburg Hemorrhagic Fever |
|
Lymphopenia, Reticulocytosis, Pericarditis, Maculopapular exanthema, Elevated circulating creatin... |
ORPHA:99826 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Hyp... |
ORPHA:94093 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Episcleritis, Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concen... |
OMIM:256040 |
Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Dysgammaglobulinemia, T lymphocytopenia, B lymphocytopenia, Thromboc... |
OMIM:251260 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Eczema, Thrombocytopenia |
ORPHA:96181 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Neutropenia, Thrombocytopenia, Megaloblastic anemia |
OMIM:277400 |
Khan-Khan-Katsanis Syndrome |
|
Lymphopenia, Anemia, Neutropenia |
OMIM:618460 |
H Syndrome |
|
Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy, Enlarged kidney, Histiocytosis |
ORPHA:168569 |
Staphylococcal Necrotizing Pneumonia |
|
Leukopenia, Leukocytosis, Neutrophilia |
ORPHA:36238 |
Tick-Borne Encephalitis |
|
Elevated circulating C-reactive protein concentration, Leukocytosis, Leukopenia, Increased circul... |
ORPHA:297 |
Congenital Erythropoietic Porphyria |
|
Hemolytic anemia, Reticulocytosis, Recurrent bacterial skin infections, Anisocytosis, Splenomegal... |
ORPHA:79277 |
Cohen Syndrome |
|
Neutropenia |
ORPHA:193 |
Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Perianal abscess, Leukocytosis, Bone marrow hypocellularity, Abnormality ... |
ORPHA:2968 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Splenomegaly, Leukocytosis, Peritonitis, Lymphadenopathy |
ORPHA:32960 |
Thyroid Lymphoma |
|
Lymphadenopathy |
ORPHA:97285 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, Nons... |
OMIM:611881 |
Sarcoidosis |
|
Hemolytic anemia, Eosinophilia, Increased T cell count, Anemia, Leukopenia, Thrombocytopenia |
ORPHA:797 |
Osteopetrosis, Autosomal Recessive 5 |
|
Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hypochromic microcytic an... |
OMIM:259720 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Thrombocytopenia, Anemia, Elevated hepatic iron concentration |
OMIM:614946 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Hepatosplenomegaly, Anemia, Leukopenia, Increased circulating IgM level, Hypoalbuminemia, Bone ma... |
ORPHA:505248 |
Hoyeraal-Hreidarsson Syndrome |
|
Abnormal leukocyte morphology, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
ORPHA:3322 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Lymphadenopathy |
ORPHA:411703 |
Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... |
OMIM:619573 |
Polycythemia Vera |
|
Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomegaly, Acute leukemia |
ORPHA:729 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Thrombocytopenia |
OMIM:617710 |
Toxic Epidermal Necrolysis |
|
Thrombocytopenia, Pancreatitis, Anemia, Neutropenia |
ORPHA:537 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Normochromic anemia, Hypoalbuminemia, Thrombocytopenia |
OMIM:254900 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hemolytic anemia, Increased circulating interleukin 6 concentration, Acute colitis,... |
ORPHA:544482 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Pancytopenia, Aplastic anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:613990 |
Braddock-Carey Syndrome 1 |
|
Thrombocytopenia |
OMIM:619980 |
Wolfram Syndrome 1 |
|
Sideroblastic anemia, Thrombocytopenia, Megaloblastic anemia |
OMIM:222300 |
Medullary Thyroid Carcinoma |
|
Abnormal liver parenchyma morphology, Lymphadenopathy |
ORPHA:1332 |
Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Abnormality of T cell physiology, Generalized lymphadenopathy, Pancytopenia, Medias... |
OMIM:181000 |
Anaplastic Thyroid Carcinoma |
|
Lymphadenopathy |
ORPHA:142 |
Hereditary Chronic Pancreatitis |
|
Leukocytosis |
ORPHA:676 |
Primary Sclerosing Cholangitis |
|
Hepatomegaly, Cholangiocarcinoma, Abnormal eosinophil morphology, Portal hypertension, Hepatocell... |
ORPHA:171 |
Rothmund-Thomson Syndrome |
|
Leukemia, Aplastic anemia, Anemia, Neutropenia |
ORPHA:2909 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly |
OMIM:238600 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Pancytopenia, Aplastic anemia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:224230 |
Gaucher Disease Type 3 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Increased circulating antibody level, Thrombocy... |
ORPHA:77261 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Biliary hyperplasia, Decreased circulating total IgM, B l... |
ORPHA:83617 |
Wilson Disease |
|
Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Splenomegaly, ... |
OMIM:277900 |
Systemic Lupus Erythematosus |
|
Leukopenia, Hemolytic anemia, Thrombocytopenia, Lymphadenopathy |
ORPHA:536 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Jaundice, Neutropenia, Thrombocytopenia, Megaloblastic anemia |
ORPHA:79282 |
Familial Mediterranean Fever |
|
Hepatomegaly, Neutrophilia, Splenomegaly, Leukocytosis, Peritonitis |
OMIM:249100 |
Rothmund-Thomson Syndrome Type 1 |
|
Leukemia, Aplastic anemia, Anemia, Neutropenia |
ORPHA:221008 |
Secondary Intestinal Lymphangiectasia |
|
Decreased circulating IgG1 level, Chylous ascites, Decreased circulating antibody level, Decrease... |
ORPHA:90363 |
Crimean-Congo Hemorrhagic Fever |
|
Hepatomegaly, Pancytopenia, Neutrophilia, Acute pancreatitis, Splenomegaly, Leukocytosis, Jaundic... |
ORPHA:99827 |
Thrombocytopenia 6 |
|
Thrombocytopenia |
OMIM:616937 |
Fanconi Anemia, Complementation Group F |
|
Pneumonia, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:603467 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Chronic neutropenia, Hepatocellular adenoma, Enlarged kidney, Hepatocellular carcin... |
ORPHA:79259 |
Immunodeficiency 58 |
|
Recurrent cutaneous abscess formation, Decreased circulating antibody level, Decreased specific a... |
OMIM:618131 |
Generalized Pustular Psoriasis |
|
Leukocytosis, Lymphopenia |
ORPHA:247353 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... |
OMIM:105650 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Neutropenia |
OMIM:617799 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Increased circulating IgG4 level, Increased circulating IgA level, Thyroiditis, Increas... |
ORPHA:79078 |
Rothmund-Thomson Syndrome Type 2 |
|
Leukemia, Aplastic anemia, Anemia, Neutropenia |
ORPHA:221016 |
Aicardi-Goutieres Syndrome 1 |
|
Splenomegaly, Chilblains, Thrombocytopenia |
OMIM:225750 |
Zygomycosis |
|
Brain abscess, Mediastinal lymphadenopathy, Peritonitis, Hepatitis, Neutropenia, Splenic abscess,... |
ORPHA:73263 |
Beemer-Ertbruggen Syndrome |
|
Thrombocytopenia |
ORPHA:1237 |
Thymic Neuroendocrine Tumor |
|
Neoplasm of the thymus, Mediastinal lymphadenopathy, Pancreatic islet cell adenoma, Chronic nonin... |
ORPHA:97289 |
Melkersson-Rosenthal Syndrome |
|
Lymphadenopathy |
ORPHA:2483 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym... |
ORPHA:447 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Thrombocytopenia, Giant platelets, Anemia |
OMIM:611209 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Lymphopenia, Polymicrogyria |
OMIM:619708 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f... |
OMIM:263200 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Splenomegaly, Vacuolated lymphocytes, Pancreatitis, Hepatomegaly |
ORPHA:565612 |
Sweet Syndrome |
|
Acute myeloid leukemia, Neutrophilia, Leukocytosis, Chronic lymphatic leukemia, Anemia, Sterile a... |
ORPHA:3243 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Lymphadenopathy, Anemia, Hepatosplenomegaly |
ORPHA:85408 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
High nonceruloplasmin-bound serum copper, Thrombocytopenia |
ORPHA:457351 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomegaly, Jaundice, Hepatic fibrosis,... |
ORPHA:567983 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Cyclic neutropenia, Chronic pancreatitis, Hepatocellular carcinoma, Hepatoblastoma |
OMIM:232240 |
Yellow Fever |
|
Increased circulating interleukin 6 concentration, Neutrophilia, Acute pancreatitis, Elevated cir... |
ORPHA:99829 |
Hyperlipoproteinemia, Type Id |
|
Splenomegaly, Recurrent pancreatitis, Pancreatitis, Hepatomegaly |
OMIM:615947 |
Caroli Syndrome |
|
Cholangitis, Hypersplenism, Conjugated hyperbilirubinemia, Leukocytosis, Leukopenia, Hyperbilirub... |
ORPHA:480520 |
X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent cutaneous abscess formation, Neutropenia |
ORPHA:163956 |
Pancreatoblastoma |
|
Jaundice, Pancreatic calcification, Abnormal lymph node morphology |
ORPHA:677 |
Hermansky-Pudlak Syndrome |
|
Neutropenia |
ORPHA:79430 |
Say-Barber-Miller Syndrome |
|
Transient hypogammaglobulinemia of infancy, Abnormal T cell morphology, Decreased circulating ant... |
ORPHA:3132 |
Viss Syndrome |
|
Increased circulating IgG level, Increased circulating IgE level, Hypereosinophilia, Decreased ci... |
OMIM:619472 |
Recon Progeroid Syndrome |
|
Thrombocytopenia, Keratoconjunctivitis sicca, Anemia |
OMIM:620370 |
Hennekam-Beemer Syndrome |
|
Mastocytosis |
ORPHA:2135 |
16Q24.3 Microdeletion Syndrome |
|
Chronic otitis media, Increased mean corpuscular volume, Thrombocytopenia |
ORPHA:261250 |
Tropical Endomyocardial Fibrosis |
|
Splenomegaly, Eosinophilia |
ORPHA:75565 |
Cushing Disease |
|
Decreased eosinophil count, Leukocytosis, Lymphopenia |
ORPHA:96253 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Thrombocytopenia |
OMIM:611126 |
Pseudo-Torch Syndrome 2 |
|
Thrombocytopenia |
OMIM:617397 |
Blue Rubber Bleb Nevus |
|
Iron deficiency anemia, Thrombocytopenia |
OMIM:112200 |
Leukocyte Adhesion Deficiency Type Ii |
|
Hepatomegaly, Neutrophilia, Microcytic anemia, Leukocytosis, Anemia, Abnormal isohemagglutinin level |
ORPHA:99843 |
Hemorrhagic Fever-Renal Syndrome |
|
Increased circulating interleukin 6 concentration, Pneumonia, Glomerulonephritis, Leukocytosis, E... |
ORPHA:340 |
Osteopetrosis With Renal Tubular Acidosis |
|
Pancytopenia, Elevated circulating creatine kinase concentration, Anemia, Leukopenia, Elliptocyto... |
ORPHA:2785 |
Gaucher Disease |
|
Pancytopenia, Osteomyelitis, Elevated circulating C-reactive protein concentration, Splenomegaly,... |
ORPHA:355 |
Noonan Syndrome 4 |
|
Thrombocytopenia |
OMIM:610733 |
Familial Mediterranean Fever |
|
Splenomegaly, Peritonitis, Lymphadenopathy, Ascites, Pancreatitis |
ORPHA:342 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Recurrent otitis media, Thrombocytopenia, Anemia |
ORPHA:261323 |
Gaucher Disease, Type Ii |
|
Splenomegaly, Thrombocytopenia, Recurrent aspiration pneumonia, Anemia |
OMIM:230900 |
Adams-Oliver Syndrome |
|
Leukopenia, Thrombocytopenia |
ORPHA:974 |
Porphyria, Congenital Erythropoietic |
|
Hemolytic anemia, Splenomegaly, Conjunctivitis, Elevated circulating uroporphyrin concentration, ... |
OMIM:263700 |
Fanconi Anemia, Complementation Group B |
|
Aplastic anemia, Thrombocytopenia |
OMIM:300514 |
Takenouchi-Kosaki Syndrome |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:616737 |
Sponastrime Dysplasia |
|
Neutropenia, Decreased circulating antibody level |
ORPHA:93357 |
Gaucher Disease, Perinatal Lethal |
|
Splenomegaly, Thrombocytopenia, Anemia, Hepatosplenomegaly |
OMIM:608013 |
Gallbladder Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit... |
ORPHA:100086 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Transient neutropenia, Chronic neutropenia, Enlarged kidney |
ORPHA:500095 |
Neuroendocrine Tumor Of Stomach |
|
Iron deficiency anemia, Chronic noninfectious lymphadenopathy, Hepatomegaly |
ORPHA:100075 |
Ileal Neuroendocrine Tumor |
|
Iron deficiency anemia, Extrahepatic cholestasis, Lymphadenopathy |
ORPHA:100078 |
Diamond-Blackfan Anemia 21 |
|
Erythroid hypoplasia, Thrombocytopenia, Anemia |
OMIM:620072 |
Kawasaki Disease |
|
Cervical lymphadenopathy, Leukocytosis, Jaundice, Hepatitis, Cholecystitis |
ORPHA:2331 |
3-Methylglutaconic Aciduria, Type Viii |
|
Jaundice, Neutropenia |
OMIM:617248 |
Autosomal Recessive Malignant Osteopetrosis |
|
Splenomegaly, Lymphadenopathy, Anemia, Hepatomegaly |
ORPHA:667 |
Alpha-Fetoprotein Deficiency |
|
Decreased circulating alpha-fetoprotein concentration |
OMIM:615969 |
Stevens-Johnson Syndrome |
|
Abnormality of neutrophils, Thrombocytopenia, Conjunctivitis, Pancreatitis, Anemia |
ORPHA:36426 |
Ivic Syndrome |
|
Leukocytosis, Thrombocytopenia |
ORPHA:2307 |
Dyskeratosis Congenita |
|
Abnormality of neutrophils, Thrombocytopenia, Splenomegaly, Periodontitis, Bone marrow hypocellul... |
ORPHA:1775 |
Pulmonary Capillary Hemangiomatosis |
|
Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:199241 |
Hellp Syndrome |
|
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Microangiopathic hemolytic... |
ORPHA:244242 |
Lathosterolosis |
|
Thrombocytopenia, Anisopoikilocytosis, Abnormal platelet morphology |
ORPHA:46059 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:612199 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Thrombocytopenia |
ORPHA:572798 |
Alport Syndrome 1, X-Linked |
|
Nephritis, Thrombocytopenia |
OMIM:301050 |
Leptospirosis |
|
Pericarditis, Skin rash, Hepatitis, Uveitis, Hyperproteinemia, Optic neuritis, Thrombocytopenia |
ORPHA:509 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Thrombocytopenia |
OMIM:612394 |
Thauvin-Robinet-Faivre Syndrome |
|
Transient neutropenia |
OMIM:617107 |
Dubowitz Syndrome |
|
Eczema, Abnormality of neutrophils, Acute lymphoblastic leukemia, Anemia, Thrombocytopenia |
ORPHA:235 |
Liver Disease, Severe Congenital |
|
Hyponatremia, Chronic gastritis, Eczema, Elevated circulating alpha-fetoprotein concentration, Pn... |
OMIM:619991 |
Joint Contractures, Osteochondromas, And B-Cell Lymphoma |
|
Generalized lymphadenopathy |
OMIM:620232 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Thrombocytopenia, Hyperbilirubinemia, Hypocalcemia, Anemia |
ORPHA:163979 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Autoimmune thrombocytopenia, Hyper... |
ORPHA:77293 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Splenomegaly, Seborrheic dermatitis, Thrombocytopenia, Aspiration pneumonia |
OMIM:301072 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Neonatal alloimmune thrombocytopenia |
ORPHA:853 |
22Q11.2 Deletion Syndrome |
|
Acne, Abnormality of thrombocytes, Impaired T cell function, Seborrheic dermatitis, Splenomegaly,... |
ORPHA:567 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hyperbilirubinemia, Thrombocytopenia |
ORPHA:464321 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Hypoammonemia, Thrombocytopenia, Cheilitis, Arthritis, Hypokalemia, Periodontitis, ... |
ORPHA:534 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Pancreatic adenocarcinoma, Pancreatoblastoma, Neoplasm of the thymus, Leukocytosis, Abnormal lymp... |
ORPHA:99889 |
Ivic Syndrome |
|
Leukocytosis, Thrombocytopenia |
OMIM:147750 |
Thrombocytopenia-Absent Radius Syndrome |
|
Thrombocytopenia |
ORPHA:3320 |
Aicardi-Goutières Syndrome |
|
Myositis, Chilblains, Neonatal alloimmune thrombocytopenia, Increased circulating interferon-gamm... |
ORPHA:51 |
Aspartylglucosaminuria |
|
Hepatomegaly, Vacuolated lymphocytes, Neutropenia |
OMIM:208400 |
Cornelia De Lange Syndrome 1 |
|
Pneumonia, Thrombocytopenia, Otitis media |
OMIM:122470 |
Exercise-Induced Malignant Hyperthermia |
|
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia... |
ORPHA:466650 |
Atelis Syndrome 2 |
|
Thrombocytopenia, Anemia |
OMIM:620185 |
Nijmegen Breakage Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Recurrent pneumonia, Acute leukemia, Thrombocytopenia |
ORPHA:647 |
Velocardiofacial Syndrome |
|
Impaired T cell function |
OMIM:192430 |
Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Leukopenia, Conjunctivitis, Bone marrow hypocellula... |
OMIM:305000 |
Ogden Syndrome |
|
Eczema, Iron deficiency anemia, Hyperbilirubinemia, Recurrent otitis media, Polycythemia, Thrombo... |
OMIM:300855 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Cholangitis, Hypersplenism, Splenomegaly, Recurrent pneumonia, Hepatosplenomegaly, ... |
ORPHA:731 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Abnormality of T cell physiology |
ORPHA:2237 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Decreased hemoglobin concentration, Thrombocytopenia |
OMIM:619005 |
Digeorge Syndrome |
|
Acne, Impaired T cell function, Seborrheic dermatitis, Splenomegaly, Recurrent pneumonia, Anemia,... |
OMIM:188400 |
Fibular Hemimelia |
|
Thrombocytopenia |
ORPHA:93323 |
Blau Syndrome |
|
Splenomegaly, Abnormality of the liver, Anemia, Lymphadenopathy |
ORPHA:90340 |
Hardikar Syndrome |
|
Cholangitis, Hypersplenism, Splenomegaly, Hepatosplenomegaly, Pyelonephritis, Hyperbilirubinemia,... |
OMIM:301068 |
Behçet Disease |
|
Splenomegaly, Pancreatitis, Lymphadenopathy |
ORPHA:117 |
Jacobsen Syndrome |
|
Eczema, Bone marrow hypocellularity, Thrombocytopenia |
ORPHA:2308 |
Lymphangioleiomyomatosis |
|
Abnormality of the lymphatic system, Pulmonary lymphangiomyomatosis, Ascites, Lymphadenopathy |
ORPHA:538 |
Dermatomyositis |
|
Abnormal eosinophil morphology |
ORPHA:221 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Anemia, Neutropenia |
ORPHA:95455 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Pancytopenia, Abnormality of the spleen, Splenomegaly, Hepatosplenomegaly, Anemia, Bacterial endo... |
ORPHA:2072 |
Deeah Syndrome |
|
Decreased hemoglobin concentration, Thrombocytopenia |
OMIM:619004 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Thrombocytopenia, Increased mean platelet volume |
ORPHA:487796 |
Progeroid Short Stature With Pigmented Nevi |
|
Impaired T cell function |
OMIM:176690 |
Adenocarcinoma Of The Anal Canal |
|
Neoplasm of the liver, Lymphadenopathy |
ORPHA:424016 |
Acute Liver Failure |
|
Hyperammonemia, Skin rash, Hepatitis, Thrombocytopenia |
ORPHA:90062 |
Jacobsen Syndrome |
|
Thrombocytopenia |
OMIM:147791 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Membranoproliferative glomerulonephritis, Microcytic anemia, Splenomegaly, Anemia, Recurrent otit... |
OMIM:619525 |
Fanconi Anemia |
|
Pyridoxine-responsive sideroblastic anemia, Leukopenia, Anemia, Thrombocytopenia |
ORPHA:84 |
Chikungunya |
|
Cervical lymphadenopathy, Lymphadenopathy |
ORPHA:324625 |
Plague |
|
Splenomegaly, Lymphadenitis, Enlarged mesenteric lymph node, Hepatomegaly |
ORPHA:707 |
African Trypanosomiasis |
|
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:3385 |
Roberts Syndrome |
|
Thrombocytopenia |
ORPHA:3103 |
Osteogenesis Imperfecta |
|
Osteoarthritis, Thrombocytopenia |
ORPHA:666 |
Noonan Syndrome 1 |
|
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Synovitis |
OMIM:163950 |
Pmm2-Cdg |
|
Impaired neutrophil chemotaxis |
ORPHA:79318 |