Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated circulating creatine kinase concentration |
ORPHA:206599 |
Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
Monocyte Chemotactic Disorder |
|
Cutaneous anergy |
OMIM:252250 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib... |
OMIM:202700 |
Immunodeficiency 86 |
|
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level |
OMIM:619549 |
Neutrophil Immunodeficiency Syndrome |
|
Abnormality of neutrophil physiology, Leukocytosis |
ORPHA:183707 |
Immunodeficiency 50 |
|
Lymphopenia, Decreased circulating antibody level, Neutropenia |
OMIM:300988 |
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, Partial absence of specific antibody response to tetanus vaccine... |
OMIM:615897 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion |
OMIM:183350 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgG level, Impaired memory B cell generation, Absence of lymph node germina... |
OMIM:606843 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci |
OMIM:233670 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hemophagocytosis, Hepatosplenomegaly, Anemia, Reduced natural killer cell activity, Granulocytopenia |
OMIM:608898 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat... |
OMIM:611926 |
Immunodeficiency 48 |
|
Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation... |
OMIM:269840 |
Neutropenia, Chronic Familial |
|
Neutropenia, Increased circulating antibody level |
OMIM:162700 |
Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-positive T ce... |
OMIM:312863 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration |
ORPHA:2843 |
Wiskott-Aldrich Syndrome 2 |
|
Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Defective T c... |
OMIM:614493 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, Abn... |
OMIM:615214 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
Immunodeficiency 15B |
|
Agammaglobulinemia, Reduced natural killer cell count, Decreased circulating antibody level, Mono... |
OMIM:615592 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Decreased specific pneumococcal antibody level, Splenomegaly, Decreased circulating IgG2 level, D... |
OMIM:615513 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Decreased circulating IgG level, Decreased circulating IgA level, Thrombocytosis, L... |
OMIM:619281 |
Immunodeficiency 88 |
|
Eosinophilia |
OMIM:619630 |
Reticular Dysgenesis |
|
Impaired T cell function, Lack of T cell function, Lymphopenia, Congenital agranulocytosis, Leuko... |
OMIM:267500 |
Immunodeficiency 15A |
|
Decreased proportion of CD8-positive T cells, Decreased proportion of memory B cells, Decreased p... |
OMIM:618204 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Decreased circulating antibody... |
OMIM:619846 |
Eosinophilia, Familial |
|
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia |
OMIM:131400 |
Immunodeficiency 105 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina... |
OMIM:619924 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Hep... |
OMIM:615285 |
Neutropenia, Severe Congenital, 10, Autosomal Recessive |
|
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia |
OMIM:620534 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Cervical l... |
OMIM:618987 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Pancytopenia, Splenomegaly, Increased circulating antibody level, Lymphocytosis, Neutropenia, Mon... |
OMIM:614470 |
Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Eosinophilia, Myeloproliferative disorder |
OMIM:131440 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulating IgA level, Decrea... |
OMIM:617514 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Neutropenia |
OMIM:610798 |
Lymphoproliferative Syndrome 3 |
|
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... |
OMIM:618261 |
Immunodeficiency 11A |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi... |
OMIM:615206 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacytosis |
ORPHA:60026 |
Transcobalamin Deficiency |
|
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Pancytopenia, Neut... |
ORPHA:859 |
Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia |
OMIM:614323 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Bone marrow hypocellularity, Leukopenia, Acute myeloid leukemia, Monocytosis, Refractory anemia |
OMIM:616871 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Abnormally low T cell receptor excision circle level, Panhypogammaglobulinemia, Increased circula... |
OMIM:602450 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Reduced delayed hy... |
OMIM:617241 |
Kimura Disease |
|
Increased circulating IgE level, Eosinophilia |
ORPHA:482 |
Specific Granule Deficiency 1 |
|
Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,... |
OMIM:245480 |
Juvenile Temporal Arteritis |
|
Eosinophilia, Leukocytosis |
ORPHA:26137 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Abnormal proportion of... |
OMIM:212050 |
Immunodeficiency, Common Variable, 5 |
|
Abnormal T cell count, Abnormal B cell count, Chronic decreased circulating total IgG |
OMIM:613495 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Agammagl... |
OMIM:619707 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Neutropenia... |
OMIM:613502 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Agammaglobulinemia, Absent circulating B cells, Neutropenia, Abnormal T cell morphology, Absent i... |
OMIM:613501 |
Immunodeficiency 75 With Lymphoproliferation |
|
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia... |
OMIM:619126 |
Ichthyosis-Prematurity Syndrome |
|
Eosinophilia |
ORPHA:88621 |
Acute Myelomonocytic Leukemia |
|
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia |
ORPHA:517 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased circulating IgE level, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of mem... |
OMIM:618982 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Increased circulat... |
ORPHA:169154 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
Immunodeficiency 81 |
|
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre... |
OMIM:619374 |
Immunodeficiency 97 With Autoinflammation |
|
Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ... |
OMIM:619802 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly,... |
OMIM:613101 |
Immunodeficiency 76 |
|
Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia |
OMIM:619164 |
Immunodeficiency 18 |
|
Reduced natural killer cell count, Lymphopenia, Abnormal circulating IgG level, Abnormal B cell c... |
OMIM:615615 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Reduced na... |
ORPHA:276 |
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280794 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Decreased circulating IgG level, Absence of lymph node germinal center |
OMIM:235550 |
Adult Idiopathic Neutropenia |
|
Lymphopenia, Neutropenia, Monocytosis, Monocytopenia, Increased circulating IgM level |
ORPHA:2688 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... |
OMIM:616452 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased specific anti-polysaccharide antibody level, Decreased CD4:CD8 ratio, Decreased proport... |
OMIM:300853 |
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes |
|
Decreased circulating IgG level, T lymphocytopenia |
OMIM:242870 |
Severe Combined Immunodeficiency, X-Linked |
|
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Reduced natural killer cell acti... |
OMIM:300400 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... |
OMIM:618534 |
Caspase 8 Deficiency |
|
Decreased circulating IgG level, Decreased CD4:CD8 ratio, Decreased circulating IgA level, Spleno... |
OMIM:607271 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th... |
ORPHA:444463 |
Immunodeficiency 104 |
|
Hepatomegaly, T lymphocytopenia, Splenomegaly, Lymphadenopathy |
OMIM:608971 |
Immunodeficiency 8 With Lymphoproliferation |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:615401 |
Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Reticuloendotheliosis, X-Linked |
|
Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy |
OMIM:312500 |
Candidiasis, Familial, 1 |
|
Cutaneous anergy |
OMIM:114580 |
Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia |
OMIM:618310 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Increased circulating IgE level, Eosinophilia, Decreased circulating total IgM |
OMIM:617638 |
Immunodeficiency 20 |
|
Reduced natural killer cell activity, Reduced natural killer cell count |
OMIM:615707 |
Immunodeficiency 25 |
|
Increased circulating IgE level, Complete or near-complete absence of specific antibody response ... |
OMIM:610163 |
Immunodeficiency 109 With Lymphoproliferation |
|
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Pancytopenia, Co... |
OMIM:620282 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Fluctuating splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia in presence o... |
OMIM:619220 |
Immunodeficiency 116 |
|
Absence of CD8-positive T cells |
OMIM:608957 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibody level |
OMIM:247800 |
Autoimmune Lymphoproliferative Syndrome |
|
Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion ... |
OMIM:601859 |
Mu-Heavy Chain Disease |
|
Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Hepatomegaly, Lymphade... |
ORPHA:100024 |
Immunodeficiency 32B |
|
Impaired oxidative burst, Abnormal circulating IgG level, Splenomegaly, Eosinophilia, Monocytopen... |
OMIM:226990 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancyt... |
OMIM:308240 |
Generalized Eruptive Histiocytosis |
|
Leukemia, Hypereosinophilia, Histiocytosis |
ORPHA:157991 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu... |
OMIM:607594 |
Hypereosinophilic Syndrome, Idiopathic |
|
Eosinophilia, Myeloproliferative disorder, Splenomegaly |
OMIM:607685 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Whim Syndrome 1 |
|
Decreased circulating IgG level, Decreased circulating antibody level, Neutropenia |
OMIM:193670 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia |
ORPHA:2582 |
Immunodeficiency 112 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Decreased circulating IgA lev... |
OMIM:620449 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absence of lymph node germinal center, Lack of T cell function, Increased circulating IgE level, ... |
ORPHA:277 |
Immunodeficiency 46 |
|
Anemia, Decreased circulating antibody level, Neutropenia, Intermittent thrombocytopenia |
OMIM:616740 |
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Elevated circulating creatine kinase concentration |
ORPHA:88635 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Lymphadeni... |
OMIM:618986 |
Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Exocrine pancreatic insufficiency, Abnormal immunoglobulin level, Neutropenia |
OMIM:618752 |
Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu... |
OMIM:240500 |
O'Sullivan-Mcleod Syndrome |
|
Eosinophilia, Increased circulating antibody level |
ORPHA:99965 |
Mantle Cell Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... |
OMIM:619824 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia, B lymphocytopenia |
OMIM:616941 |
Immunodeficiency 62 |
|
Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced isohemagglutinin... |
OMIM:618459 |
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections |
|
Increased circulating IgE level, Eosinophilia |
OMIM:620532 |
Immunodeficiency, Common Variable, 3 |
|
Abnormal T cell count, Chronic decreased circulating total IgG, Decreased circulating IgA level, ... |
OMIM:613493 |
Trimethylaminuria |
|
Anemia, Splenomegaly, Neutropenia |
OMIM:602079 |
Autoinflammation With Infantile Enterocolitis |
|
Hypoalbuminemia, Reduced natural killer cell count, Increased circulating ferritin concentration,... |
OMIM:616050 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke... |
OMIM:619041 |
Cernunnos-Xlf Deficiency |
|
Lymphopenia, Decreased circulating antibody level, Thrombocytopenia, B lymphocytopenia, Anemia, T... |
ORPHA:169079 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly... |
OMIM:618495 |
Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia |
OMIM:617585 |
Cyclic Neutropenia |
|
Cyclic neutropenia |
OMIM:162800 |
Myeloproliferative Syndrome, Transient |
|
Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
Immunodeficiency 95 |
|
Decreased circulating IgG3 level, Lymphopenia, Increased circulating IgG3 level |
OMIM:619773 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function |
ORPHA:231393 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... |
OMIM:608203 |
Peeling Skin Syndrome 1 |
|
Increased circulating IgE level, Eosinophilia |
OMIM:270300 |
Immunodeficiency 67 |
|
Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co... |
OMIM:607676 |
Immunodeficiency 44 |
|
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... |
OMIM:616636 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Axillary lymphadenopathy, Inguinal lymphadenopathy, Lymphadenopathy |
OMIM:616126 |
Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy |
ORPHA:66661 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... |
ORPHA:75564 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Increased circulating IgA level, Cirrhosis, Neutropenia, Hepatomegaly, Impaired Ig class switch r... |
OMIM:308230 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion ... |
OMIM:603909 |
Kerion Celsi |
|
Recurrent cutaneous abscess formation, Lymphadenopathy |
ORPHA:499 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased circulating IgG level, Agammaglobulinemia, Absent circulating B cells, Decreased propor... |
OMIM:619705 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Increased circulating IgA level, Glomerulonephritis, Thrombocytopenia |
OMIM:314000 |
Purine Nucleoside Phosphorylase Deficiency |
|
Impaired T cell function, Lymphopenia, Lymph node hypoplasia, Abnormality of B cell physiology, A... |
OMIM:613179 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... |
OMIM:615559 |
Eosinophilopenia |
|
Decreased eosinophil count |
OMIM:131430 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Lymphadenopathy, Neutropenia, B lymphocytopenia, I... |
OMIM:150550 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating IgE level, Eosinophilia |
OMIM:618523 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Decreased circulating IgG level, Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, ... |
OMIM:301078 |
Griscelli Syndrome, Type 2 |
|
Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis |
OMIM:607624 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased circulating IgG level, Abnormal T cell count, Lymphopenia, Hepatosplenomegaly, Decrease... |
ORPHA:331206 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphadenitis, Abnormal lymph node morphology, Decreased proportion of CD8-positive T cells, Hepa... |
ORPHA:911 |
Immunodeficiency 36 With Lymphoproliferation |
|
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Splenomegaly, Chro... |
OMIM:616005 |
Immunodeficiency 102 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Increased proportion of CD8-p... |
OMIM:301082 |
Whim Syndrome 2 |
|
Chronic neutropenia |
OMIM:619407 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Alpha-Heavy Chain Disease |
|
Ascites, Splenomegaly, Dysgammaglobulinemia, Hepatomegaly, Lymphadenopathy, Anemia |
ORPHA:100025 |
Eosinophil Peroxidase Deficiency |
|
Eosinophil nuclear hypersegmentation |
OMIM:261500 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased circulating IgG level, Lymphopenia, Hepatosplenomegaly, Increased circulating antibody ... |
ORPHA:169160 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Burkitt Lymphoma |
|
Abnormal lymph node morphology, Abnormality of the spleen, Abnormality of the liver, Decreased pr... |
ORPHA:543 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Decreased circulating IgG level, Hepatosplenomegaly, Complete or near-complete absence of specifi... |
OMIM:301081 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Decreased circulating IgA level, Agammaglobulinemia, Absent circulating B cells, Abnormal T cell ... |
OMIM:613500 |
Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
Immune Thrombocytopenia |
|
Thrombocytopenia |
OMIM:188030 |
Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ... |
OMIM:619130 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia |
ORPHA:2643 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
Immunodeficiency 27A |
|
Enlarged mesenteric lymph node, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, ... |
OMIM:209950 |
Refractory Anemia |
|
Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi... |
ORPHA:98826 |
Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99977 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... |
OMIM:605258 |
Immunodeficiency, Common Variable, 7 |
|
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul... |
OMIM:614699 |
Wells Syndrome |
|
Eosinophilia |
ORPHA:901 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Neutropenia |
ORPHA:70592 |
Agammaglobulinemia, X-Linked |
|
Decreased circulating IgG level, Hepatocellular carcinoma, Decreased circulating IgA level, Lymph... |
OMIM:300755 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... |
OMIM:608106 |
Lymphoproliferative Syndrome 1 |
|
Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion... |
OMIM:613011 |
Activated Pi3K-Delta Syndrome |
|
Recurrent tonsillitis, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hepatomegaly, Decreased ... |
ORPHA:397596 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Neutropenia |
OMIM:616022 |
Lymphangiectasia, Intestinal |
|
Decreased circulating IgG level, Lymphopenia, Intestinal lymphangiectasia |
OMIM:152800 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Neutropenia |
ORPHA:90023 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Hepatomegaly, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Neutropenia, Ane... |
OMIM:603552 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Monocytosis, Leu... |
ORPHA:486 |
Amegakaryocytic Thrombocytopenia, Congenital, 2 |
|
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia... |
OMIM:620481 |
Hemoglobin H Disease |
|
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia |
OMIM:613978 |
Esophagitis, Eosinophilic, 2 |
|
Eosinophilia |
OMIM:613412 |
Esophagitis, Eosinophilic, 1 |
|
Eosinophilia |
OMIM:610247 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly |
OMIM:619813 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Impaired Ig class switch recombination, Autoimmune thrombocytopenia, Absence of lymph node germin... |
OMIM:608184 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly |
OMIM:618852 |
Immunodeficiency 16 |
|
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly |
OMIM:615593 |
Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
Immunodeficiency 68 |
|
Lymphadenitis, Abscess, B lymphocytopenia, Abnormal natural killer cell count, T lymphocytopenia |
OMIM:612260 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia |
ORPHA:231401 |
Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Abnormal macrophage morphology, Hypopl... |
ORPHA:2585 |
Schnitzler Syndrome |
|
Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia, Increased circulating IgM level |
ORPHA:37748 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Leukocytosis |
OMIM:619398 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Decreased circulating IgG level, Reduced natural killer cell count, Cutaneous abscess, Increased ... |
OMIM:619752 |
Immunodeficiency 70 |
|
Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, B lymphocyt... |
OMIM:618969 |
Erythroleukemia, Familial, Susceptibility To |
|
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... |
OMIM:133180 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Decreased proportion of memory B cells, Decreased specific anti-polysaccharide antibody level, De... |
ORPHA:70593 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Increased circulating IgE level, Decreased FOXP3-expressing T cell count, Eosinophilia, Coombs-po... |
OMIM:304790 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an... |
OMIM:619375 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Cutaneous anergy, Absent natural killer cells, Panhypogammaglobulinemia, Lymphopenia, Absent peri... |
OMIM:600802 |
Immunodeficiency, Common Variable, 13 |
|
Decreased circulating antibody level, Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia |
OMIM:616873 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, B lymphocyt... |
OMIM:612692 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Decreased lymphocyte proliferation in response to mitogen, Abnormal CD4:CD8 ratio, Lack of T cell... |
ORPHA:572 |
Rosaï-Dorfman Disease |
|
Anemia, Dysgammaglobulinemia, Lymphadenopathy |
ORPHA:158014 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Atrophic gastritis, Recurrent pneumonia, Recurrent skin infections, Autoimmune hemolytic anemia, ... |
OMIM:616576 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hypoalbuminemia, Hemophagocytosis, Abnormality of tumor necrosis factor secretion, Increased circ... |
ORPHA:540 |
Immunodeficiency 115 With Autoinflammation |
|
Decreased circulating IgG level, Intestinal lymphangiectasia, Splenomegaly, Partial absence of sp... |
OMIM:620632 |
Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Megaloblastic anemia, Thrombocytopenia, Decreased circulating antibod... |
ORPHA:90045 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Decreased circulat... |
OMIM:616100 |
Pontocerebellar Hypoplasia, Type 15 |
|
Anemia, Chronic neutropenia, Thrombocytopenia, Simplified gyral pattern |
OMIM:619302 |
Immunodeficiency 57 With Autoinflammation |
|
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... |
OMIM:618108 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Hepatosplenomegaly, Decreased circulating antibody level, Autoimmune hemolytic anemia, Eosinophil... |
OMIM:615952 |
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Abnormally low T cell receptor excision circle level, Eosinophilia |
OMIM:618092 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Increased circulating IgE level, Hypereosinophilia, Leukocytosis |
ORPHA:2902 |
Immunodeficiency 19 |
|
Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology |
OMIM:615617 |
Amegakaryocytic Thrombocytopenia, Congenital, 1 |
|
Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia |
OMIM:604498 |
Immunodeficiency 17 |
|
Abnormal B cell morphology, Decreased proportion of CD8-positive T cells, Chronic decreased circu... |
OMIM:615607 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S... |
OMIM:612840 |
Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia, Simplified gyral pattern |
OMIM:619301 |
Bone Marrow Failure Syndrome 4 |
|
Bone marrow hypocellularity, Eczematoid dermatitis, Leukopenia, Thrombocytopenia, Anemia, Decreas... |
OMIM:618116 |
Thrombocythemia 1 |
|
Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce... |
OMIM:187950 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Abnormally low T cell receptor excision circle level, T lymphocytopenia |
OMIM:618806 |
Immunodeficiency 13 |
|
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... |
OMIM:615518 |
Immunodeficiency 69 |
|
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A... |
OMIM:618963 |
Immunodeficiency, Common Variable, 6 |
|
Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat... |
OMIM:613496 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Decreased proportion of memory B cells, Abnormal circulating IgM level, Increased circulating IgA... |
OMIM:618048 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia |
OMIM:206400 |
Bleeding Disorder, Platelet-Type, 16 |
|
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ... |
OMIM:187800 |
Immunodeficiency 21 |
|
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... |
OMIM:614172 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Cinca Syndrome |
|
Anemia, Eosinophilia, Hepatosplenomegaly, Leukocytosis |
OMIM:607115 |
Malaria |
|
Elevated circulating C-reactive protein concentration, Anemia, Hyperbilirubinemia, Thrombocytopenia |
ORPHA:673 |
Leishmaniasis |
|
Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Increased circulating ant... |
ORPHA:507 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Cutaneous abscess, Increased circulating IgE level, Decreased circulating IgA level, Eosinophilia... |
OMIM:618282 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Reduction of neutrophil motility, Neutrophilia |
OMIM:266265 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Panhypogammaglobulinemia, T lymphocytopenia, B lymphocytopenia |
OMIM:601457 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
Immunodeficiency 7 |
|
Hypereosinophilia, Splenomegaly, Neutropenia, Autoimmune hemolytic anemia |
OMIM:615387 |
Bone Marrow Failure Syndrome 6 |
|
Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp... |
OMIM:618849 |
Hemoglobin D Disease |
|
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... |
ORPHA:90039 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Sea-Blue Histiocyte Disease |
|
Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis |
OMIM:269600 |
Lymphoproliferative Syndrome 2 |
|
Aplastic anemia, Hemophagocytosis, Ascites, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Lymph... |
OMIM:615122 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Decreased circulating IgG level, Lymphopenia, Leukopenia, Splenomegaly, Hepatomegaly, Decreased c... |
OMIM:620210 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Decreased specific pneumococcal antibody level, Impaired lymphocyte transformation with phytohema... |
OMIM:617006 |
Indolent Systemic Mastocytosis |
|
Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega... |
ORPHA:98848 |
Roifman Syndrome |
|
Eosinophilia, Hepatosplenomegaly, Decreased circulating antibody level |
ORPHA:353298 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Abnormally low T cell receptor excision circle level, Reduced delayed hypersensitivity, Lymphopen... |
OMIM:242700 |
Iga Pemphigus |
|
Monoclonal elevation of circulating IgA, Eosinophilia, Increased circulating IgA level, Cutaneous... |
ORPHA:555905 |
Fanconi Anemia, Complementation Group G |
|
Leukemia, Anemia, Neutropenia, Thrombocytopenia |
OMIM:614082 |
Eosinophilic Fasciitis |
|
Eosinophilia, Abnormal eosinophil morphology |
ORPHA:3165 |
Hyperbilirubinemia, Shunt, Primary |
|
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega... |
OMIM:237800 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Eosinophilia |
OMIM:253600 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Omenn Syndrome |
|
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Lymphadenopathy, Thro... |
OMIM:603554 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... |
OMIM:603902 |
Igg4-Related Aortitis |
|
Increased circulating IgE level, Hypereosinophilia, Increased circulating IgG4 level, Increased c... |
ORPHA:449400 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Eczematoid dermatitis, Agammaglobulinemia, Seborrheic dermatitis, Absent circulating B cells, Thr... |
OMIM:619693 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Decreased circulating antibody level, Leukocytosis, Splenomegaly |
OMIM:618042 |
Nephrotic Syndrome, Type 7 |
|
Hypoalbuminemia, Membranoproliferative glomerulonephritis, Hemolytic anemia, Thrombocytopenia |
OMIM:615008 |
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Thrombocytopenia, Monocytosis |
OMIM:619644 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Splenomegaly |
OMIM:619175 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Decreased circulating IgG level, Increased circulating IgE level, Decreased circulating IgA level... |
ORPHA:98813 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia |
OMIM:617243 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:86893 |
Immunodeficiency 113 With Autoimmunity And Autoinflammation |
|
Neutrophilia, Increased circulating IgE level, Leukocytosis, Autoimmune hemolytic anemia, Splenom... |
OMIM:620565 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Acute pancreatitis, Recurrent tonsillitis, Granuloma, Lymphadenitis, Lymphopenia, Hepatosplenomeg... |
OMIM:618935 |
Pgm3-Cdg |
|
Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous... |
ORPHA:443811 |
Mhc Class Ii Deficiency 1 |
|
Cutaneous anergy, Panhypogammaglobulinemia, Biliary tract abnormality, Agammaglobulinemia, Neutro... |
OMIM:209920 |
Immunodeficiency 54 |
|
Hepatomegaly, Reduced natural killer cell count, Splenomegaly, Lymphadenopathy |
OMIM:609981 |
Immunodeficiency 10 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Splenomegaly, Autoimmune hemoly... |
OMIM:612783 |
Erythrocyte Lactate Transporter Defect |
|
Elevated circulating creatine kinase concentration |
OMIM:245340 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Bone marrow hypocellularity, Impaired platelet aggregation, Mac... |
OMIM:300835 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... |
ORPHA:98849 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Leukocytosis, Splenomegaly, Lymphadenopathy |
OMIM:611762 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased proportion of memory B cells, Reduced natural killer cell count, Decreased circulating ... |
OMIM:619510 |
Immunodeficiency 108 With Autoinflammation |
|
Impaired neutrophil chemotaxis, Hyposegmentation of neutrophil nuclei |
OMIM:260570 |
Autoimmune Disease, Multisystem, Infantile-Onset, 3 |
|
Decreased specific pneumococcal antibody level, Abnormal T cell count, Decreased circulating IgG ... |
OMIM:620430 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P... |
OMIM:619767 |
Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia |
OMIM:619523 |
Immunodeficiency, Common Variable, 11 |
|
Increased circulating IgE level, Decreased circulating IgG level, Abnormal T cell count, Decrease... |
OMIM:615767 |
Immunodeficiency 32A |
|
Lymphadenitis, Granuloma, Lymphadenopathy |
OMIM:614893 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, In... |
OMIM:617388 |
Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Neutropenia |
OMIM:266130 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation |
OMIM:124900 |
Transcobalamin Ii Deficiency |
|
Decreased circulating IgG level, Decreased circulating IgA level, Pancytopenia, Macrocytic anemia... |
OMIM:275350 |
Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
Necrobiosis Lipoidica |
|
Abnormality of neutrophil physiology, Granuloma |
ORPHA:542592 |
Encephalopathy Due To Prosaposin Deficiency |
|
Hepatomegaly, Splenomegaly |
ORPHA:139406 |
Aggressive Systemic Mastocytosis |
|
Ascites, Hypersplenism, Increased proportion of CD25+ mast cells, Hepatosplenomegaly, Pancytopeni... |
ORPHA:98850 |
Bleeding Disorder, Platelet-Type, 24 |
|
Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri... |
OMIM:619271 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Intermittent jaundice |
OMIM:179700 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Increased circulating IgE level, Lymphopenia, Decreased circulating IgA level, Autoimmune hemolyt... |
OMIM:102700 |
Thrombocytopenia 9 |
|
Abnormal platelet aggregation, Thrombocytopenia |
OMIM:620478 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hypoalbuminemia, Hemophagocytosis, Increased total bilirubin, Increased circulating ferritin conc... |
OMIM:603553 |
Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a... |
OMIM:159550 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Hypoplasia of the thymus, Impaired lymphocyte transformation w... |
OMIM:619313 |
Classic Mycosis Fungoides |
|
Hepatomegaly, Abnormal lymphocyte morphology, Splenomegaly, Lymphadenopathy |
ORPHA:2584 |
Immunodeficiency 23 |
|
Increased circulating IgE level, Lymphopenia, Abscess, Eosinophilia, Neutropenia, Increased circu... |
OMIM:615816 |
Immunodeficiency 49 |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Eosinophilia, Impaired lymphoc... |
OMIM:617237 |
Immunodeficiency 92 |
|
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... |
OMIM:619652 |
Immunodeficiency 60 And Autoimmunity |
|
Decreased circulating IgG level, Decreased proportion of memory B cells, Pancytopenia, Decreased ... |
OMIM:618394 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal eosinophil morphology |
ORPHA:724 |
Netherton Syndrome |
|
Increased circulating IgE level, Decreased circulating IgG level, Hypereosinophilia |
OMIM:256500 |
Follicular Lymphoma |
|
Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology, Lymphadenopathy |
ORPHA:545 |
Immunodeficiency 114, Folate-Responsive |
|
Decreased circulating IgG level, Increased circulating IgE level, Lymphopenia, Splenomegaly, Mega... |
OMIM:620603 |
Bleeding Disorder, Platelet-Type, 15 |
|
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm... |
OMIM:615193 |
Folate Malabsorption, Hereditary |
|
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia |
OMIM:229050 |
Tularemia |
|
Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal adenoid morph... |
ORPHA:3392 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Rectal abscess, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, B lymphocytopenia, Dec... |
OMIM:601495 |
Eosinophilic Gastroenteritis |
|
Anemia, Eosinophilia, Leukocytosis |
ORPHA:2070 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Aplastic anemia, Hemophagocytosis, Hepatitis, Pancytopenia, Splenomegaly, Hepatomegaly, Decreased... |
OMIM:300635 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume |
ORPHA:494444 |
Sézary Syndrome |
|
Abnormal lymphocyte morphology, Splenomegaly, Abnormal immunoglobulin level, Lymphadenopathy, Hep... |
ORPHA:3162 |
Spherocytosis, Type 5 |
|
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... |
OMIM:612690 |
Aicardi-Goutieres Syndrome 6 |
|
Chilblains, Splenomegaly, Increased circulating Interferon-alpha concentration, Thrombocytopenia,... |
OMIM:615010 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased specific anti-polysaccharide anti... |
OMIM:606367 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Reduced natural killer cell count, Cutaneous abscess, Increased circulating IgE level, Decreased ... |
OMIM:243700 |
Aregenerative Anemia |
|
Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, A... |
ORPHA:101096 |
Platelet Signal Processing Defect |
|
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... |
OMIM:173590 |
Immunodeficiency 43 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Decreased specific antibody r... |
OMIM:241600 |
Omenn Syndrome |
|
Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Eosinophilia, Anemia |
ORPHA:39041 |
Selective Igm Deficiency |
|
Decreased proportion of transitional B cells, Lymphadenitis, Cutaneous abscess, Decreased proport... |
ORPHA:331235 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Increased LDL cholesterol concentration, Hypertriglyceridemia, Splenomega... |
OMIM:607616 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo... |
ORPHA:3226 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia |
OMIM:166990 |
Griscelli Syndrome Type 2 |
|
Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepatomegaly, Jaundice |
ORPHA:79477 |
Unclassified Myelodysplastic Syndrome |
|
Bone marrow hypocellularity, Acute myeloid leukemia, Leukocytosis |
ORPHA:98827 |
Mastocytosis, Cutaneous |
|
Cutaneous mastocytosis |
OMIM:154800 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Lymphopenia, Intestinal lymphangiectasia |
OMIM:207731 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Abnormal circulating IgG level, Dysgammaglobulinemia, Increased circulating IgA level, Reduced na... |
OMIM:300291 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Neutropenia |
OMIM:610738 |
Thrombocytopenia 5 |
|
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... |
OMIM:616216 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Nonspherocytic hemolytic anemia, Spontaneous hemolytic crises, Splenomegaly, Impaired neutrophil ... |
OMIM:613470 |
Idiopathic Aplastic Anemia |
|
Bone marrow hypocellularity, Pancytopenia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Anemia |
ORPHA:88 |
Adenocarcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99976 |
Boutonneuse Fever |
|
Cervical lymphadenopathy, Leukopenia, Lymphadenopathy, Thrombocytopenia, Increased circulating Ig... |
ORPHA:83313 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia |
OMIM:616738 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Decreased circulating IgG level, Decreased circulating IgA level, Pancytopenia, Decreased specifi... |
OMIM:614700 |
Griscelli Syndrome |
|
Bone marrow hypocellularity, Hepatitis, Ascites, Leukopenia, Splenomegaly, Lymphadenopathy, Throm... |
ORPHA:381 |
Hemangioma-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Hyperkalemia, Microangiopathic hemolytic anemia |
OMIM:141000 |
Bone Marrow Failure Syndrome 2 |
|
Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia |
OMIM:615715 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilia, Hepatosplenomegaly |
OMIM:618999 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Hepatomegaly, Fetal ascites, Splenomegaly |
OMIM:619462 |
Aspergillosis |
|
Increased circulating IgE level, Eosinophilia, Neutropenia |
ORPHA:1163 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Reduced natural killer cell count, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Splenomega... |
ORPHA:158057 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Leukocytosis, Increased proportion of CD4-positive T cells, Increased circulating IgA level, Lymp... |
OMIM:617099 |
Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... |
ORPHA:521 |
Immunodeficiency 66 |
|
Defective T cell proliferation |
OMIM:618847 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Increased circulating IgE level, T lymphocytopenia, B lymphocytopenia |
ORPHA:217390 |
Hemochromatosis, Type 3 |
|
Anemia, Lymphopenia, Cirrhosis, Neutropenia |
OMIM:604250 |
Gray Platelet Syndrome |
|
Splenomegaly, Thrombocytopenia |
ORPHA:721 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Decreased circulating IgG level, Absent natural killer cells, Lack of T cell function, Lymphopeni... |
ORPHA:35078 |
X-Linked Agammaglobulinemia |
|
Hepatitis, Abnormality of the lymphatic system, Agammaglobulinemia, Abnormality of the tonsils, T... |
ORPHA:47 |
Angiostrongyliasis |
|
Hypereosinophilia, Increased circulating specific IgE antibody, Increased circulating IgA level, ... |
ORPHA:74 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i... |
OMIM:617780 |
Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia |
OMIM:189800 |
Bleeding Disorder, Platelet-Type, 22 |
|
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... |
OMIM:618462 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice |
OMIM:224100 |
Tyrosinemia Type 1 |
|
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma |
ORPHA:882 |
Ziegler-Huang Syndrome |
|
Bone marrow hypocellularity, Neutropenia, Macrocytic anemia, Persistence of hemoglobin F |
OMIM:620501 |
Roifman Syndrome |
|
Eosinophilia, Splenomegaly |
OMIM:616651 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Splenomegaly, Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia |
ORPHA:79312 |
Primary Myelofibrosis |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... |
ORPHA:824 |
Macrophage Activation Syndrome |
|
Hypoalbuminemia, Abnormal circulating interleukin concentration, Increased circulating interleuki... |
ORPHA:158061 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Abnormal lymph node morphology, Abnormality of the lymphatic system, Neutrophilia,... |
ORPHA:54251 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... |
ORPHA:251380 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Abnormality of neuronal migration, Hepatomegaly, Splenomegaly |
ORPHA:2204 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Lymphopenia, T lymphocytopenia |
OMIM:618309 |
Bleeding Disorder, Platelet-Type, 19 |
|
Anemia, Macrothrombocytopenia, Thrombocytopenia |
OMIM:616176 |
Immunodeficiency, Common Variable, 14 |
|
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... |
OMIM:617765 |
Pfapa Syndrome |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:42642 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia, Decreased circulating antibody level |
ORPHA:1116 |
Progressive Multifocal Leukoencephalopathy |
|
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells |
ORPHA:217260 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive... |
ORPHA:3261 |
Acute Generalized Exanthematous Pustulosis |
|
Eosinophilia, Leukocytosis, Neutropenia, Neutrophilia |
ORPHA:293173 |
Sea-Blue Histiocytosis |
|
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy |
ORPHA:158029 |
Gamma-Heavy Chain Disease |
|
Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Hepatomegaly, Lymphade... |
ORPHA:100026 |
Juvenile Arthritis |
|
Leukocytosis, Thrombocytosis |
OMIM:618795 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Lymphopenia, Eosinophilia, Decreased circulating antibody level |
OMIM:617425 |
Diamond-Blackfan Anemia 8 |
|
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia |
OMIM:612563 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Decreased proportion of memory B cells, Absence of lymph node germinal center, Panhypogammaglobul... |
ORPHA:79124 |
Wiskott-Aldrich Syndrome |
|
Decreased mean platelet volume, Decreased specific anti-polysaccharide antibody level, Decreased ... |
OMIM:301000 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Colon cancer, Abnormal lymph node morphology, Neoplasm of head and neck, Papillary renal cell car... |
ORPHA:97290 |
Acute Panmyelosis With Myelofibrosis |
|
Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye... |
ORPHA:86843 |
Congenital Toxoplasmosis |
|
Ascites, Cardiomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Anemia, Jaundice |
ORPHA:858 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Decreased circulating IgG level, Decreased circulating IgA level, B lymphocytopenia, Decreased ci... |
OMIM:614069 |
Immunodeficiency 89 And Autoimmunity |
|
Increased circulating IgE level, Increased circulating IgA level, Hypochromic microcytic anemia, ... |
OMIM:619632 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... |
OMIM:615631 |
Cyclic Neutropenia |
|
Recurrent tonsillitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, Perianal absces... |
ORPHA:2686 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Macrothrombocytopenia, Thrombocytopenia, Neutropenia, Decreased platelet glycoprotein Ib |
OMIM:603585 |
Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... |
OMIM:263300 |
Ghosal Hematodiaphyseal Dysplasia |
|
Anemia, Splenomegaly |
ORPHA:1802 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Lymphopenia, Splenomegaly, Increased circulating antibody level, Hepatomegaly, Lymphadenopathy, T... |
OMIM:617591 |
Neonatal Severe Primary Hyperparathyroidism |
|
Hepatomegaly, Splenomegaly |
ORPHA:417 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Decreased circulating IgG level, Decreased circulating IgA level, Autoimmune hemolytic anemia, Sp... |
ORPHA:436159 |
Erythrocytosis, Familial, 8 |
|
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... |
OMIM:222800 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Hepatic fibrosis, Hepatic steatosis, Splenomegaly |
OMIM:614480 |
Autosomal Agammaglobulinemia |
|
Agammaglobulinemia, Hepatitis, Neutropenia |
ORPHA:33110 |
Bleeding Disorder, Platelet-Type, 21 |
|
Eczematoid dermatitis, Psoriasiform dermatitis, Impaired ADP-induced platelet aggregation, Thromb... |
OMIM:617443 |
Galactose Epimerase Deficiency |
|
Hepatomegaly, Jaundice, Splenomegaly |
ORPHA:79238 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
Abnormal natural killer cell morphology, B lymphocytopenia, Pachygyria, T lymphocytopenia, Simpli... |
OMIM:615966 |
Systemic Lupus Erythematosus 17 |
|
Myelitis, Lymphopenia, Leukopenia, Malar rash, Optic neuritis, Thrombocytopenia, Autoimmune throm... |
OMIM:301080 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia |
OMIM:610539 |
Aicardi-Goutieres Syndrome 3 |
|
Hepatosplenomegaly, Chilblains, Thrombocytopenia |
OMIM:610329 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Thrombocy... |
OMIM:155100 |
Immunodeficiency 96 |
|
Decreased circulating IgG level, Increased mean corpuscular volume, Increased proportion of gamma... |
OMIM:619774 |
Sitosterolemia 1 |
|
Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Reticulocytosis, Reduced haptoglobi... |
OMIM:210250 |
Trichothiodystrophy 3, Photosensitive |
|
Lymphopenia, Increased circulating IgA level, Abdominal adhesions, Neutropenia |
OMIM:616395 |
Classic Hodgkin Lymphoma |
|
Hepatomegaly, Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy |
ORPHA:391 |
Cystic Echinococcosis |
|
Peritoneal abscess, Splenic cyst, Abscess, Increased circulating antibody level, Eosinophilia |
ORPHA:400 |
Wolman Disease |
|
Hepatomegaly, Splenomegaly |
OMIM:620151 |
Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Neutropenia, Megaloblastic anemia, Thrombocytopenia |
OMIM:598500 |
Hermansky-Pudlak Syndrome 2 |
|
Reduced natural killer cell count, Enlarged platelet dense granules, Hepatosplenomegaly, Decrease... |
OMIM:608233 |
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency |
|
Increased circulating IgE level, Eosinophilia |
ORPHA:2314 |
Fish-Eye Disease |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:79292 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Neutropenia |
OMIM:616949 |
Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia |
ORPHA:289916 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... |
ORPHA:2133 |
Immunodeficiency 42 |
|
Hepatomegaly, Hypoplasia of the thymus, Splenomegaly |
OMIM:616622 |
Felty Syndrome |
|
Bone marrow hypocellularity, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly, Lymphade... |
ORPHA:47612 |
Tafro Syndrome |
|
Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocy... |
ORPHA:457077 |
Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Macrocytic anemia |
OMIM:612527 |
Drug-Induced Lupus Erythematosus |
|
Malar rash, Elevated circulating creatine kinase concentration, Anemia, Increased blood urea nitr... |
ORPHA:231111 |
Cold Agglutinin Disease |
|
Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy |
ORPHA:56425 |
Immunodeficiency 22 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Decreased proportion of CD4-pos... |
OMIM:615758 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Galactosemia Iii |
|
Hepatomegaly, Jaundice, Splenomegaly |
OMIM:230350 |
Chediak-Higashi Syndrome |
|
Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Hepatomegaly, Abnormal den... |
OMIM:214500 |
Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia |
ORPHA:1980 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Bone marrow hypocellularity, Polymicrogyria, Thrombocytopenia, Neutropenia, Anemia |
OMIM:614520 |
Thrombocytopenia 1 |
|
Decreased mean platelet volume, Eczematoid dermatitis, Increased circulating IgE level, Increased... |
OMIM:313900 |
Immunodeficiency 9 |
|
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Hypoplasia of the ... |
OMIM:612782 |
Primary Intestinal Lymphangiectasia |
|
Decreased circulating IgG level, Peritoneal effusion, Intestinal lymphangiectasia, Ascites, Lymph... |
ORPHA:90362 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... |
OMIM:314050 |
Aicardi-Goutieres Syndrome 5 |
|
Thrombocytopenia, Chilblains, Increased circulating interferon-gamma concentration |
OMIM:612952 |
Splenoportal Vascular Anomalies |
|
Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system |
OMIM:271500 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... |
ORPHA:766 |
Portal Hypertension, Noncirrhotic, 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:617068 |
Isolated Agammaglobulinemia |
|
Pneumonia, Abnormal lymphocyte morphology, Otitis media, Skin rash, Inflammatory abnormality of t... |
ORPHA:229717 |
Bleeding Disorder, Platelet-Type, 25 |
|
Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll... |
OMIM:620486 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Cholestasis, Hepatomegaly, Jaundice, Splenomegaly |
OMIM:620010 |
Von Willebrand Disease, Platelet-Type |
|
Intermittent thrombocytopenia |
OMIM:177820 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Macrothrombocytopenia, Impaired platelet aggregation |
OMIM:613112 |
Acute Monoblastic/Monocytic Leukemia |
|
Hypochromic anemia, Acute monocytic leukemia, Cervical lymphadenopathy, Leukocytosis, Lymphocytos... |
ORPHA:514 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Lymphopenia, Skin rash, Thrombocytopenia, Colitis, Hemolytic anemia, Anterior uveitis |
OMIM:616744 |
Common Variable Immunodeficiency |
|
Lymphopenia, Abnormality of the liver, Decreased circulating antibody level, Splenomegaly, Lympha... |
ORPHA:1572 |
Vexas Syndrome |
|
Inflammatory abnormality of the skin, Arteritis, Neutrophilic infiltration of the skin, Macrocyti... |
OMIM:301054 |
Babesiosis |
|
Leukopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly, Jaundice, Hemolytic anemia |
ORPHA:108 |
Hermansky-Pudlak Syndrome 9 |
|
Leukopenia, Recurrent skin infections, Abnormal platelet aggregation, Thrombocytopenia |
OMIM:614171 |
Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Erythroid hypoplasia, Hypoplasia of th... |
OMIM:612541 |
Slc35A1-Cdg |
|
Thrombocytopenia, Neutropenia, Giant platelets, Abnormal platelet granules |
ORPHA:238459 |
Glut1 Deficiency Syndrome 2 |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:612126 |
Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia |
ORPHA:529 |
Aicardi-Goutieres Syndrome 4 |
|
Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly |
OMIM:610333 |
Immunodeficiency 55 |
|
Lymphopenia, Absent natural killer cells, Lymphadenopathy, Neutropenia |
OMIM:617827 |
Neonatal Lupus Erythematosus |
|
Aplastic anemia, Pancytopenia, Abnormality of the liver, Splenomegaly, Hepatomegaly, Neutropenia,... |
ORPHA:398124 |
Systemic Lupus Erythematosus |
|
Nephritis, Leukopenia, Malar rash, Lupus nephritis, Thrombocytopenia, Arthritis, Hemolytic anemia... |
OMIM:152700 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Pancytopenia, Splenomegaly |
OMIM:614979 |
Ataxia-Telangiectasia |
|
Lymphopenia, Decreased circulating antibody level, Aplasia/Hypoplasia of the thymus |
ORPHA:100 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Hepatomegaly, Cirrhosis, H... |
OMIM:616860 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Bone marrow hypocellularity, Hepatosplenomegaly, Thrombocytopenia, Increased circulating ferritin... |
ORPHA:210136 |
Giant platelet syndrome with thrombocytopenia |
|
Giant platelets, Thrombocytopenia |
OMIM:137560 |
Schimke Immunoosseous Dysplasia |
|
Lymphopenia, Pancytopenia, Abnormal T cell morphology, Abnormal immunoglobulin level, Neutropenia... |
OMIM:242900 |
Hemochromatosis, Type 2B |
|
Hepatic fibrosis, Splenomegaly, Hepatomegaly, Cirrhosis, Anemia |
OMIM:613313 |
Progressive Familial Intrahepatic Cholestasis |
|
Cholestasis, Hepatomegaly, Jaundice, Splenomegaly |
ORPHA:172 |
Specific Granule Deficiency 2 |
|
Anemia, Absent neutrophil specific granules, Thrombocytopenia, Neutropenia |
OMIM:617475 |
Diffuse Cutaneous Mastocytosis |
|
Abnormality of the spleen, Abnormality of the liver, Lymphocytosis, Lymphadenopathy, Hepatomegaly... |
ORPHA:79456 |
Fanconi Anemia, Complementation Group T |
|
Bone marrow hypocellularity, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia |
OMIM:616435 |
Bullous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280785 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Thrombocytopenia, Elevated circulating creatine kinase concentration |
OMIM:614727 |
Schimke Immuno-Osseous Dysplasia |
|
Bone marrow hypocellularity, Abnormal proportion of naive CD4 T cells, Impaired T cell function, ... |
ORPHA:1830 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Lymphopenia, Incre... |
ORPHA:508533 |
Meige Disease |
|
Lymph node hypoplasia, Absence of lymph node germinal center |
ORPHA:90186 |
Loeffler Endocarditis |
|
Eosinophilia |
ORPHA:75566 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Neonatal cholestatic liver disease, Splenomegaly, Biliary tract abnormality, Cirrhosis, Hepatomeg... |
ORPHA:79301 |
Mucopolysaccharidosis-Plus Syndrome |
|
Bone marrow hypocellularity, Leukopenia, Splenomegaly, Hepatomegaly, Neutropenia, Thrombocytopeni... |
OMIM:617303 |
Disabling Pansclerotic Morphea Of Childhood |
|
Lymphopenia, Neutropenia |
OMIM:620443 |
Chronic Beryllium Disease |
|
Mediastinal lymphadenopathy, Abnormal proportion of CD4-positive T cells |
ORPHA:133 |
Niemann-Pick Disease, Type A |
|
Sea-blue histiocytosis, Microcytic anemia, Ascites, Splenomegaly, Hepatomegaly, Lymphadenopathy, ... |
OMIM:257200 |
Sneddon Syndrome |
|
Decreased circulating total IgM, Lymphopenia |
OMIM:182410 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology |
ORPHA:1164 |
X-Linked Sideroblastic Anemia |
|
Anemia, Splenomegaly |
ORPHA:75563 |
Immune Dysregulation, Autoimmunity, And Autoinflammation |
|
Anemia, Inguinal lymphadenopathy, Cervical lymphadenopathy |
OMIM:620514 |
Leukodystrophy, Hypomyelinating, 24 |
|
B lymphocytopenia |
OMIM:619851 |
Fetal Parvovirus Syndrome |
|
Anemia, Thrombocytopenia |
ORPHA:295 |
Myelofibrosis |
|
Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di... |
OMIM:254450 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Eosinophilia, Lymphocytosis |
ORPHA:139402 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis |
OMIM:617441 |
Heme Oxygenase 1 Deficiency |
|
Cervical lymphadenopathy, Lymphadenopathy, Coombs-positive hemolytic anemia, Thrombocytosis, Hepa... |
OMIM:614034 |
Atelis Syndrome 1 |
|
Eczematoid dermatitis, Decreased lymphocyte proliferation in response to anti-CD3, Leukopenia, Gl... |
OMIM:620184 |
Infantile Sialic Acid Storage Disease |
|
Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes |
OMIM:269920 |
Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Thrombo... |
OMIM:231200 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Microcytic anemia, Hepatosplenomegaly, Decreased circulating antibody level, Lymphadenopathy |
OMIM:619750 |
Moyamoya Disease With Early-Onset Achalasia |
|
Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
Pelger-Huet Anomaly |
|
Giant platelets, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Neutropenia, Abnormalit... |
OMIM:169400 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... |
OMIM:616689 |
Beta-Thalassemia |
|
Hepatitis, Microcytic anemia, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Anemia, Abnorm... |
ORPHA:848 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Cholelithiasis, Splenomegaly, Reticulocytosis, Cholecystitis, Nonspherocytic h... |
OMIM:235700 |
Refractory Anemia With Excess Blasts |
|
Abnormal mean corpuscular volume, Bone marrow hypocellularity, Leukocytosis, Anemia of inadequate... |
ORPHA:86839 |
Atypical Hemolytic Uremic Syndrome |
|
Thrombocytopenia, Microangiopathic hemolytic anemia |
ORPHA:2134 |
Osteopetrosis, Autosomal Recessive 8 |
|
Anemia, Hepatomegaly, Splenomegaly, Thrombocytopenia |
OMIM:615085 |
Diamond-Blackfan Anemia 11 |
|
Bone marrow hypocellularity, Neutropenia, Anemia of inadequate production |
OMIM:614900 |
Forsythe-Wakeling Syndrome |
|
Thrombocytopenia |
OMIM:613606 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Leukopenia, Hyperammonemia, Macrocytic anemia, Pancreatitis, Thrombocytopenia, Anemia |
ORPHA:27 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Bone marrow hypocellularity, Hepatic fibrosis, Aplastic anemia, Pancytopenia, Leukopenia, Neutrop... |
OMIM:613989 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Lymphadenopathy |
OMIM:617772 |
Transaldolase Deficiency |
|
Hepatosplenomegaly, Abnormal circulating glutamine concentration, Increased serum bile acid conce... |
ORPHA:101028 |
Alveolar Echinococcosis |
|
Cutaneous abscess, Increased circulating antibody level, Eosinophilia, Abnormal spleen morphology... |
ORPHA:284 |
Essential Thrombocythemia |
|
Acute leukemia, Leukocytosis, Splenomegaly, Abnormal platelet morphology, Thrombocytosis |
ORPHA:3318 |
Igg4-Related Submandibular Gland Disease |
|
Increased circulating IgE level, Increased circulating IgG4 level, Increased circulating antibody... |
ORPHA:449432 |
Hyper-Igd Syndrome |
|
Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased circulating IgA level, L... |
OMIM:260920 |
Thrombotic Thrombocytopenic Purpura |
|
Decreased serum creatinine, Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia |
ORPHA:54057 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Bone marrow hypocellularity, Reduced natural killer cell count, Pancytopenia, B lymphocytopenia |
OMIM:620133 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Splenomegaly, Jaundice |
OMIM:619658 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemia, Schistocyto... |
OMIM:616084 |
Gaucher Disease, Type Iii |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia |
OMIM:231000 |
Vici Syndrome |
|
Decreased circulating IgG level, Cutaneous anergy, Lymphopenia, Leukopenia, Decreased proportion ... |
OMIM:242840 |
Cryohydrocytosis |
|
Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis |
OMIM:185020 |
Letterer-Siwe Disease |
|
Hepatosplenomegaly, Neutropenia, Thrombocytopenia, Anemia, Jaundice |
OMIM:246400 |
Focal Facial Dermal Dysplasia Type Iv |
|
Abnormal mast cell morphology |
ORPHA:398189 |
Gaucher Disease Type 2 |
|
Hepatomegaly, Splenomegaly |
ORPHA:77260 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Rectal ab... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Rectal ab... |
OMIM:233710 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Lymphopenia, Leukopenia, Follicular hyperplasia, Increased circulating IgA level, Thrombocytosis,... |
OMIM:615934 |
Overhydrated Hereditary Stomatocytosis |
|
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... |
ORPHA:3203 |
Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Lymphopenia, Decreased circulating antibody level, Splenomegaly |
OMIM:605309 |
Zika Virus Disease |
|
Myelitis, Skin rash, Maculopapular exanthema, Infectious encephalitis, Arthritis, Thrombocytopeni... |
ORPHA:448237 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Portal fibrosis, Splenomegaly, Acholic stools, Hepatomegaly, Jaundice |
OMIM:619868 |
Hepatoportal Sclerosis |
|
Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of the hepatic vascul... |
ORPHA:64743 |
Cinca Syndrome |
|
Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia, Abnormality of neutrophils, Ab... |
ORPHA:1451 |
Portal Hypertension, Noncirrhotic, 2 |
|
Nodular regenerative hyperplasia of liver, Ascites, Portal hypertension, Splenomegaly, Thrombocyt... |
OMIM:619463 |
Cholestasis-Lymphedema Syndrome |
|
Neonatal cholestatic liver disease, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice |
OMIM:214900 |
Legionnaires Disease |
|
Bone marrow hypocellularity, Hepatitis, Lymphopenia, Splenomegaly, Pancreatitis, Lymphadenopathy,... |
ORPHA:549 |
Desmoplastic Small Round Cell Tumor |
|
Ascites, Hepatomegaly, Lymphadenopathy, Abnormal peritoneum morphology, Anemia, Mediastinal lymph... |
ORPHA:83469 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatic fibrosis, Portal fibrosis, Portal hypertension, Splenomegaly, Iron deficiency anemia, Hep... |
OMIM:616278 |
Spherocytosis, Type 4 |
|
Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia |
OMIM:612653 |
Rhabdoid Tumor |
|
Anemia, Neoplasm of the liver, Lymphadenopathy, Thrombocytopenia |
ORPHA:69077 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Autoimmune hemolytic anemia |
OMIM:619183 |
Bleeding Disorder, Platelet-Type, 20 |
|
Thrombocytopenia |
OMIM:616913 |
Von Willebrand Disease, Type 2 |
|
Thrombocytopenia |
OMIM:613554 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Anemia, Neutropenia |
OMIM:617056 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ... |
OMIM:267700 |
Developmental And Epileptic Encephalopathy 66 |
|
Anemia, Neutropenia |
OMIM:618067 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Rectal ab... |
OMIM:233690 |
Thyrocerebrorenal Syndrome |
|
Nephritis, Thrombocytopenia |
ORPHA:3327 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatic bridging fibrosis, Hepatomegaly, Splenomegaly, Hepatic fibrosis |
OMIM:616719 |
Imerslund-Gräsbeck Syndrome |
|
Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocytosis, Macro... |
ORPHA:35858 |
Harderoporphyria |
|
Splenomegaly, Reticulocytosis, Hepatomegaly, Prolonged neonatal jaundice, Hemolytic anemia |
OMIM:618892 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Cholestatic liver disease, Hepatosplenomegaly, Splenomegaly, Prolonged neonatal jaundice, Cirrhos... |
OMIM:616828 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... |
OMIM:300908 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Aplasia of the thymus, Atypical or prolonged hepatitis, Co... |
ORPHA:83471 |
Alpha-1-Antitrypsin Deficiency |
|
Cirrhosis, Splenomegaly, Hepatocellular carcinoma |
OMIM:613490 |
Diffuse Neonatal Hemangiomatosis |
|
Anemia, Hypercalcemia, Thrombocytopenia |
ORPHA:2123 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Neutropenia, Simplified gyral pattern |
OMIM:618253 |
Prolidase Deficiency |
|
Recurrent pneumonia, Eczematoid dermatitis, Splenomegaly, Increased circulating antibody level, C... |
OMIM:170100 |
Propionic Acidemia |
|
Pancytopenia, Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia |
OMIM:606054 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620126 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Bone marrow hypocellularity, Lymphopenia, Leukopenia, Reticulocytopenia, B lymphocytopenia, Neutr... |
ORPHA:508542 |
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Hypokalemia, Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circul... |
OMIM:241150 |
Adult-Onset Still Disease |
|
Bone marrow hypocellularity, Hepatitis, Leukocytosis, Splenomegaly, Hepatomegaly, Generalized lym... |
ORPHA:829 |
Good Syndrome |
|
Recurrent skin infections, Abnormal leukocyte morphology, Thrombocytopenia, Sinusitis, Anemia, De... |
ORPHA:169105 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Anemia, Splenomegaly, Pancytopenia, Hemophagocytosis |
OMIM:618398 |
Spherocytosis, Type 2 |
|
Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia |
OMIM:616649 |
Spherocytosis, Type 1 |
|
Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia |
OMIM:182900 |
Noonan Syndrome 12 |
|
Lymphopenia, Thrombocytopenia |
OMIM:618624 |
Amyloidosis, Hereditary Systemic 2 |
|
Cholestasis, Hepatomegaly, Splenomegaly |
OMIM:105200 |
Erythrocytosis, Familial, 1 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... |
OMIM:133100 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620125 |
Immunodeficiency 110 With Lymphoproliferation |
|
Lymphopenia, Autoimmune hemolytic anemia, Neutropenia |
OMIM:614868 |
Congenital Enterovirus Infection |
|
Fetal ascites, Hepatitis, Cholestasis, Leukopenia, Leukocytosis, Abnormal macrophage morphology, ... |
ORPHA:292 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Sideroblastic anemia, Splenomegaly, Hepatomegaly, Hypochromia, Poikilocytosis, Anemia, Elevated h... |
OMIM:615234 |
Whim Syndrome |
|
Lymphadenitis, Abnormal neutrophil morphology, Lymphopenia, Neutropenia, Decreased circulating an... |
ORPHA:51636 |
Mevalonic Aciduria |
|
Fluctuating splenomegaly, Hepatosplenomegaly, Leukocytosis, Fluctuating hepatomegaly, Lymphadenop... |
OMIM:610377 |
Icf Syndrome |
|
Anemia, Lymphopenia, Abnormality of neutrophils, Decreased circulating antibody level |
ORPHA:2268 |
Stuve-Wiedemann Syndrome 2 |
|
Eczematoid dermatitis, Thrombocytopenia |
OMIM:619751 |
Thrombocytopenia 2 |
|
Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia |
OMIM:188000 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology |
ORPHA:319487 |
Orotic Aciduria |
|
Folate-unresponsive megaloblastic anemia, Impaired T cell function, Anisocytosis, Hypochromia, Po... |
OMIM:258900 |
3-Methylglutaconic Aciduria Type 7 |
|
Bone marrow hypocellularity, Infection associated neutropenia, Hepatic steatosis, Neutropenia |
ORPHA:445038 |
Osteopetrosis, Autosomal Recessive 4 |
|
Splenomegaly, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Anemia |
OMIM:611490 |
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Jaundice, Megaloblastic anemia, Neutropenia |
OMIM:250940 |
Igg4-Related Pachymeningitis |
|
Increased circulating IgG4 level, Eosinophilia |
ORPHA:449427 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volum... |
ORPHA:811 |
Neuraminidase Deficiency |
|
Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells |
OMIM:256550 |
Immunodeficiency 40 |
|
Focal active colitis, Recurrent pneumonia, Recurrent otitis media, Interstitial pneumonitis, Redu... |
OMIM:616433 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Reticulocytosis, S... |
OMIM:266200 |
Cholestasis-Lymphedema Syndrome |
|
Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,... |
ORPHA:1414 |
Glycogen Storage Disease Ixb |
|
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content |
OMIM:261750 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... |
OMIM:619849 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Leukopenia, Leukocytosis, Lymphadenopathy, Neutropenia, Thrombocytopenia, Anemia |
ORPHA:520 |
Wolman Disease |
|
Ascites, Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells |
ORPHA:75233 |
Osteopetrosis, Autosomal Dominant 3 |
|
Anemia, Hepatomegaly, Splenomegaly |
OMIM:618107 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Jaundice, Cirrhosis, Splenomegaly |
ORPHA:75234 |
Hemophagocytic Syndrome Associated With An Infection |
|
Hemophagocytosis, Pancytopenia, Abnormal T cell subset distribution, Splenomegaly, Hepatomegaly, ... |
ORPHA:158048 |
Gray Platelet Syndrome |
|
Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Splenomegaly, ... |
OMIM:139090 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:85414 |
Hereditary Orotic Aciduria |
|
Anemia, Splenomegaly, Impaired T cell function |
ORPHA:30 |
Granulomatous Slack Skin |
|
Abnormal lymph node morphology |
ORPHA:33111 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Abnormality of the tonsils, Splenomegaly |
ORPHA:93476 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Hepatic steatosis |
OMIM:612526 |
Sickle Cell Disease |
|
Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg... |
OMIM:603903 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy... |
ORPHA:67044 |
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature |
|
Lymphopenia, Leukopenia, Neutropenia, Schistocytosis, Anemia, Thrombocytopenia, Hemolytic anemia |
OMIM:301110 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hepatitis, Increased circulating IgE level, Autoimmune hemolytic anemia, Splenomegaly, Iron defic... |
ORPHA:37042 |
Nephronophthisis 19 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega... |
OMIM:616217 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Lymphopenia, Leukocytosis, Autoimmune hemolytic anemia, Interface hepatitis, Agammaglobulinemia, ... |
OMIM:243150 |
Cholesteryl Ester Storage Disease |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Periportal fibrosis, Increased hepatic echogenicity,... |
OMIM:278000 |
Alpha-Thalassemia |
|
Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome... |
ORPHA:846 |
Joubert Syndrome 33 |
|
Splenomegaly |
OMIM:617767 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Leukopenia, Pancreatitis, Thrombocytopenia, Neutropenia, Hepatomegaly |
OMIM:251000 |
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome |
|
Atopic dermatitis, Thrombocytopenia, Hypochromic microcytic anemia, Increased circulating ferriti... |
ORPHA:3240 |
Holocarboxylase Synthetase Deficiency |
|
Perioral eczema, Eczematoid dermatitis, Hyperammonemia, Keratoconjunctivitis, Thrombocytopenia |
ORPHA:79242 |
Neonatal Alloimmune Neutropenia |
|
Jaundice, Neutropenia in presence of anti-neutropil antibodies |
ORPHA:464370 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Spherocytosis, Splenomegaly |
ORPHA:66518 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Leukopenia, Macrocytic anemia, Neutro... |
OMIM:613990 |
Ebola Hemorrhagic Fever |
|
Hepatitis, Lymphopenia, Leukopenia, Increased circulating antibody level, Thrombocytopenia, Macul... |
ORPHA:319218 |
Thyrocerebroretinal Syndrome |
|
Nephritis, Thrombocytopenia |
OMIM:274240 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Hypoalbuminemia, Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic a... |
OMIM:617021 |
Avian Influenza |
|
Hypoalbuminemia, Pneumonia, Myelitis, Hepatitis, Lymphopenia, Leukopenia, Elevated circulating cr... |
ORPHA:454836 |
Lig4 Syndrome |
|
Acute leukemia, Pancytopenia, Leukocytosis, Lymphadenopathy, Hepatomegaly |
ORPHA:99812 |
Relapsing Fever |
|
Increased total bilirubin, Elevated circulating creatinine concentration, Leukopenia, Leukocytosi... |
ORPHA:91547 |
Hb Bart'S Hydrops Fetalis |
|
Anemia, Hepatomegaly, Splenomegaly, Abnormal hemoglobin |
ORPHA:163596 |
Chédiak-Higashi Syndrome |
|
Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell morphology, ... |
ORPHA:167 |
Acquired Purpura Fulminans |
|
Elevated circulating C-reactive protein concentration, Skin rash, Thrombocytopenia |
ORPHA:49566 |
Laryngeal Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy |
ORPHA:100083 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Eosinophilia |
ORPHA:183 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Abnormal cortical gyration, Decreased specific anti-polysaccharide antibody level, Impaired T cel... |
OMIM:614576 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Thrombocytopenia, Normochromic anemia, Neutropenia |
OMIM:614857 |
Farber Lipogranulomatosis |
|
Hepatomegaly, Splenomegaly, Lipogranulomatosis |
OMIM:228000 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... |
OMIM:612924 |
Pseudo-Torch Syndrome 3 |
|
Lymphadenitis, Increased circulating ferritin concentration, Leukocytosis, Congenital thrombocyto... |
OMIM:618886 |
Gaucher Disease Type 1 |
|
Splenic infarction, Cholelithiasis, Ascites, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leu... |
ORPHA:77259 |
3-Methylglutaconic Aciduria, Type Viia |
|
Anemia, Neutropenia, Anisopoikilocytosis |
OMIM:619835 |
Bone Marrow Failure Syndrome 3 |
|
Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Persistence of h... |
OMIM:617052 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Eosinophilia, Macrocytic anemia |
ORPHA:199299 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Cirrhosis, Splenomegaly |
OMIM:602390 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Splenomegaly, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Hemolytic anemia |
ORPHA:169090 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... |
OMIM:612926 |
Fetal Gaucher Disease |
|
Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly |
ORPHA:85212 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly |
ORPHA:664 |
Elliptocytosis 1 |
|
Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis |
OMIM:611804 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia, Leukocytosis, Thrombocytopenia, Hashimoto thyroiditis |
ORPHA:83601 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Anemia, Hepatomegaly, Splenomegaly |
OMIM:620296 |
Granulomatous Disease, Chronic, X-Linked |
|
Granuloma, Lymphadenitis, Ascites, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lympha... |
OMIM:306400 |
Mucoepithelial Dysplasia, Hereditary |
|
Eosinophilia |
OMIM:158310 |
Dengue Fever |
|
Leukopenia, Hypoproteinemia, Skin rash, Thrombocytopenia |
ORPHA:99828 |
Methylcobalamin Deficiency Type Cble |
|
Increased mean corpuscular volume, Pancytopenia, Abnormality of the liver, Macrocytic anemia, Neu... |
ORPHA:2169 |
Amed Syndrome, Digenic |
|
Bone marrow hypocellularity, Leukopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia |
OMIM:619151 |
Immunodeficiency 47 |
|
Accessory spleen, Normocytic anemia, Hepatic bridging fibrosis, Hepatic fibrosis, Decreased circu... |
OMIM:300972 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hepatomegaly, P... |
OMIM:185000 |
Hypokalemic Tubulopathy And Deafness |
|
Increased circulating renin level |
OMIM:619406 |
Phosphoglycerate Dehydrogenase Deficiency |
|
Megaloblastic anemia, Thrombocytopenia |
OMIM:601815 |
Isovaleric Acidemia |
|
Bone marrow hypocellularity, Pancytopenia, Leukopenia, Thrombocytopenia |
OMIM:243500 |
Bacterial Toxic-Shock Syndrome |
|
Glomerulonephritis, Recurrent skin infections, Elevated circulating creatinine concentration, Ost... |
ORPHA:36234 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired collagen-relate... |
OMIM:153670 |
Ghosal Hematodiaphyseal Dysplasia |
|
Bone marrow hypocellularity, Leukopenia, Refractory anemia, Thrombocytopenia |
OMIM:231095 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Bone marrow hypocellularity, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Leukopenia, Leukocyto... |
OMIM:615688 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate production, Hepatomegaly, J... |
OMIM:612714 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Splenomegaly, Inc... |
OMIM:194380 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Hepatic fibrosis, Ex... |
OMIM:620005 |
Fanconi Anemia, Complementation Group I |
|
Bone marrow hypocellularity, Neutropenia |
OMIM:609053 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hypomagnesemia, Pancytopenia, Leukopenia, Hyperuricemia, Hyponatremia, Increased blood urea nitro... |
OMIM:613845 |
Idiopathic Hypereosinophilic Syndrome |
|
Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly, Eosinophilia, Thrombocytopenia, N... |
ORPHA:3260 |
Ataxia-Telangiectasia |
|
Decreased circulating IgG level, Defective B cell differentiation, Lymphopenia, Decreased circula... |
OMIM:208900 |
Platelet Disorder, Undefined |
|
Thrombocytopenia, Impaired platelet aggregation |
OMIM:173420 |
Wolcott-Rallison Syndrome |
|
Ascites, Exocrine pancreatic insufficiency, Abnormality of the liver, Lymphocytosis, Iron deficie... |
ORPHA:1667 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Ascites, Splenomegaly, Cirrhosis,... |
OMIM:602347 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Cholestasis, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice |
ORPHA:59303 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate... |
OMIM:224120 |
Purine Nucleoside Phosphorylase Deficiency |
|
Lymphopenia, Autoimmune hemolytic anemia, Abnormal T cell morphology, Decreased proportion of CD3... |
ORPHA:760 |
Pleural Mesothelioma |
|
Hepatomegaly, Lymphadenopathy |
ORPHA:50251 |
Myh9-Related Disease |
|
Nephritis, Giant platelets, Congenital thrombocytopenia, Neutrophil inclusion bodies, Increased m... |
ORPHA:182050 |
Cohen Syndrome |
|
Leukopenia, Neutropenia |
OMIM:216550 |
Non-Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141179 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Er... |
ORPHA:231222 |
Coccidioidomycosis |
|
Granuloma, Abnormality of the spleen, Abscess, Eosinophilia, Increased circulating IgG level, Inc... |
ORPHA:228123 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... |
OMIM:612925 |
Onychotrichodysplasia And Neutropenia |
|
Lymphocytosis, Chronic neutropenia, Neutropenia |
OMIM:258360 |
Castleman Disease |
|
Follicular hyperplasia, Abdominal mass, Generalized lymphadenopathy, Lymphadenopathy, Thrombocyto... |
ORPHA:160 |
Pseudomyxoma Peritonei |
|
Ascites, Lymphadenopathy, Abnormal peritoneum morphology |
ORPHA:26790 |
Fetal Cytomegalovirus Syndrome |
|
Hepatitis, Splenomegaly, Thrombocytopenia, Anemia, Conjugated hyperbilirubinemia |
ORPHA:294 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Decreased mean platelet volume, Cervical lymphadenopathy, Lymphocytosis, Lymphadenopathy, Thrombo... |
OMIM:617718 |
Thrombocytopenia-Absent Radius Syndrome |
|
Hepatosplenomegaly, Leukocytosis, Eosinophilia, Thrombocytopenia, Anemia, Decreased circulating a... |
OMIM:274000 |
3-Methylglutaconic Aciduria Type 4 |
|
Thrombocytopenia |
ORPHA:67048 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatic fibrosis, Lymphadenitis, Cholestasis, Leukocytosis, Splenomegaly, Hepatomegaly, Lymphaden... |
OMIM:615895 |
Evans Syndrome |
|
Jaundice, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of an... |
ORPHA:1959 |
Hermansky-Pudlak Syndrome 10 |
|
Hepatomegaly, Splenomegaly, Neutropenia |
OMIM:617050 |
Papa Syndrome |
|
Lymphadenopathy, Increased circulating antibody level |
ORPHA:69126 |
Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Splenomegaly |
OMIM:306000 |
Pneumocystosis |
|
Abnormal neutrophil count, Increased circulating antibody level |
ORPHA:723 |
Dehydrated Hereditary Stomatocytosis |
|
Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog... |
ORPHA:3202 |
Incontinentia Pigmenti |
|
Eosinophilia, Leukocytosis |
OMIM:308300 |
Barth Syndrome |
|
Hypochromic microcytic anemia, Granulocytopenia, Cyclic neutropenia, Neutropenia |
OMIM:302060 |
Pediatric Systemic Lupus Erythematosus |
|
Microangiopathic hemolytic anemia, Ascites, Lymphopenia, Leukopenia, Lymphadenopathy, Thrombocyto... |
ORPHA:93552 |
Kikuchi-Fujimoto Disease |
|
Abnormal lymph node morphology, Cervical lymphadenopathy, Leukopenia, Splenomegaly, Hepatomegaly,... |
ORPHA:50918 |
Developmental Delay, Hypotonia, And Impaired Language |
|
Neutropenia |
OMIM:620012 |
Cutaneous Neuroendocrine Carcinoma |
|
Lymphoid leukemia, Chronic noninfectious lymphadenopathy |
ORPHA:79140 |
Mixed Connective Tissue Disease |
|
Leukopenia, Hemolytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadeno... |
ORPHA:809 |
Congenital Pulmonary Lymphangiectasia |
|
Ascites, Hepatomegaly, Splenomegaly |
ORPHA:2414 |
American Trypanosomiasis |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:3386 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Anemia, Lymphopenia, Portal hypertension, Thrombocytopenia |
OMIM:620365 |
Poikiloderma With Neutropenia |
|
Leukopenia, Splenomegaly, Neutropenia |
OMIM:604173 |
Immunodeficiency 31C |
|
Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Impaired lymphocyte transformation with p... |
OMIM:614162 |
Rapidly Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141184 |
Obesity Due To Congenital Leptin Deficiency |
|
Decreased T cell activation, Decreased proportion of CD4-positive helper T cells |
ORPHA:66628 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Decreased circulating iron concentration, Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, ... |
OMIM:616959 |
Bleeding Disorder, Platelet-Type, 17 |
|
Increased RBC distribution width, Absence of alpha granules, Thrombocytopenia, Macrothrombocytope... |
OMIM:187900 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Hepatocel... |
OMIM:601847 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Hypochromic anemia, Increased circulating IgE level, Leukocytosis, Decreased T cell activation, P... |
OMIM:618213 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... |
OMIM:613673 |
Fanconi Anemia, Complementation Group C |
|
Bone marrow hypocellularity, Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopen... |
OMIM:227645 |
Methylmalonic Aciduria, Cblb Type |
|
Pancytopenia, Hepatomegaly, Thrombocytopenia, Neutropenia, Anemia |
OMIM:251110 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Autoimmune hemolytic anemia |
ORPHA:90037 |
Pseudo-Torch Syndrome 1 |
|
Polymicrogyria, Splenomegaly, Hepatomegaly, Thrombocytopenia, Pachygyria, Jaundice, Lissencephaly |
OMIM:251290 |
Kaposi Sarcoma |
|
Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy |
ORPHA:33276 |
Osteopetrosis, Autosomal Recessive 2 |
|
Mandibular osteomyelitis, Extramedullary hematopoiesis, Osteomyelitis, Hepatosplenomegaly, Pancyt... |
OMIM:259710 |
Sepsis In Premature Infants |
|
Leukocytosis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Neutropenia, Anemia, Jaundice |
ORPHA:90051 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased T cell activation, Decreased proportion of CD4-positive helper T cells |
ORPHA:179494 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hypoalbuminemia, Elevated circulating creatinine concentration, Anemia, Thrombocytopenia |
OMIM:608104 |
Cartilage-Hair Hypoplasia |
|
Lymphopenia, Macrocytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Conge... |
OMIM:250250 |
Scrub Typhus |
|
Splenomegaly, Lymphadenopathy |
ORPHA:83317 |
Shwachman-Diamond Syndrome 1 |
|
Persistence of hemoglobin F, Exocrine pancreatic insufficiency, Pancytopenia, Hepatomegaly, Acute... |
OMIM:260400 |
Waldenström Macroglobulinemia |
|
Normocytic anemia, Monoclonal immunoglobulin M proteinemia, Splenomegaly, Hepatomegaly, Lymphaden... |
ORPHA:33226 |
Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia, Hemolytic anemia,... |
ORPHA:906 |
Immunodeficiency 82 With Systemic Inflammation |
|
Reduced natural killer cell count, Decreased circulating total IgG, Hepatitis, Decreased proporti... |
OMIM:619381 |
Quebec Platelet Disorder |
|
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation |
OMIM:601709 |
Necrotizing Enterocolitis |
|
Ascites, Leukocytosis, Peritonitis, Thrombocytopenia, Neutropenia |
ORPHA:391673 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Pancytopenia, Hepatomegaly, Megaloblastic anemia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:277380 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Bone marrow hypocellularity, Increased mean corpuscular volume, Aplastic anemia, Lymphopenia, Leu... |
OMIM:127550 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Thrombocytopenia, Anemia... |
OMIM:185070 |
Multiple Myeloma |
|
Splenomegaly, Increased circulating IgA level, Lymphadenopathy, Anemia, Increased circulating IgG... |
ORPHA:29073 |
Chronic Granulomatous Disease |
|
Splenomegaly, Hepatomegaly, Abnormality of neutrophils, Mediastinal lymphadenopathy, Liver abscess |
ORPHA:379 |
Methylmalonic Aciduria, Cbla Type |
|
Pancytopenia, Hepatomegaly, Thrombocytopenia, Neutropenia, Anemia |
OMIM:251100 |
Kasabach-Merritt Phenomenon |
|
Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Abnormal lymphatic vessel morphol... |
ORPHA:2330 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Anemia, Lymphopenia, Agammaglobulinemia, Abnormality of the pancreas |
ORPHA:935 |
Incontinentia Pigmenti |
|
Eosinophilia |
ORPHA:464 |
Gaucher Disease, Type I |
|
Pancytopenia, Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia |
OMIM:230800 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8 |
|
Nodular regenerative hyperplasia of liver, Increased mean corpuscular volume, Portal hypertension... |
OMIM:620367 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Splenomegaly, Impaired T cell function |
OMIM:201100 |
Anal Fistula |
|
Leukocytosis |
ORPHA:228113 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Abnormal T cell count, Absent circulating B cells, Enteroviral hepatitis, Panhypogammaglobulinemia |
OMIM:307200 |
Immunodeficiency 27B |
|
Generalized lymphadenopathy |
OMIM:615978 |
Sclerosing Cholangitis, Neonatal |
|
Hepatic bridging fibrosis, Portal fibrosis, Biliary cirrhosis, Cholestasis, Ascites, Portal hyper... |
OMIM:617394 |
Igg4-Related Kidney Disease |
|
Increased circulating IgE level, Increased circulating IgG4 level, Eosinophilia, Increased circul... |
ORPHA:449395 |
Revesz Syndrome |
|
Macrocytic anemia, Bone marrow hypocellularity, Aplastic anemia, Neutropenia |
OMIM:268130 |
Transaldolase Deficiency |
|
Hepatic fibrosis, Micronodular cirrhosis, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Hepatom... |
OMIM:606003 |
Poems Syndrome |
|
Visceromegaly, Polycythemia, Ascites, Splenomegaly, Increased circulating antibody level, Lymphad... |
ORPHA:2905 |
Congenital Rubella Syndrome |
|
Anemia, Skin rash, Splenomegaly, Thrombocytopenia |
ORPHA:290 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Chronic lymphatic leukemia, Jaundice, Splenomegaly, Autoimmune hemolytic anemia |
ORPHA:90033 |
Fusariosis |
|
Granuloma, Brain abscess, Abnormality of the spleen, Lymphopenia, Abnormality of the liver, Perit... |
ORPHA:228119 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Reduced natural killer cell count, Decreased circulating total IgG, Decreased proportion of CD4-p... |
ORPHA:221139 |
Cog4-Cdg |
|
Hepatosplenomegaly, Hypercholesterolemia, Thrombocytopenia |
ORPHA:263501 |
Thrombocytopenia, Paris-Trousseau Type |
|
Thrombocytopenia |
OMIM:188025 |
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Acanthocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Poikilocytosis |
OMIM:300367 |
Igg4-Related Ophthalmic Disease |
|
Increased circulating IgE level, Eosinophilia, Increased circulating IgG4 level |
ORPHA:449563 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly |
OMIM:235555 |
3-Methylglutaconic Aciduria, Type Viib |
|
Leukopenia, Hepatic steatosis, Thrombocytopenia, Neutropenia |
OMIM:616271 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Acute monocytic leukemia, Impaired arachidonic acid-induced platelet aggregation, Abnormal dense ... |
OMIM:601399 |
Q Fever |
|
Granuloma, Hepatitis, Hepatosplenomegaly, Abnormality of the liver, Splenomegaly, Cholecystitis, ... |
ORPHA:781 |
Autoimmune Hepatitis |
|
Viral hepatitis, Ascites, Splenomegaly, Sclerosing cholangitis, Increased circulating antibody le... |
ORPHA:2137 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom... |
OMIM:211600 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Megaloblastic anemia, Thrombocytopenia |
ORPHA:49827 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Hyperlipidemia,... |
OMIM:235400 |
Brucellosis |
|
Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Glomerulonephritis, Elevated... |
ORPHA:1304 |
Overlap Myositis |
|
Rheumatoid arthritis, Abnormal circulating lipid concentration, Leukopenia, Elevated circulating ... |
ORPHA:206572 |
Hennekam Syndrome |
|
Ascites, Lymphopenia, Splenomegaly, Lymphangioma, Lymphadenopathy, Pulmonary lymphangiectasia, Pa... |
ORPHA:2136 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Microcytic anemia, Hepatomegaly, Neutropenia |
OMIM:251900 |
Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Thrombocytopenia, ... |
OMIM:617941 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Severe B lymphocytopenia, Abnormal lymphocyte morphology, Autoimmune thrombocytopenia, Decreased ... |
ORPHA:293978 |
Glycogen Storage Disease Ib |
|
Splenomegaly, Pancreatitis, Neutropenia, Pancreatic fibrosis, Hepatomegaly, Enlarged kidney, Hepa... |
OMIM:232220 |
Diffuse Alveolar Hemorrhage |
|
Anemia, Elevated circulating creatinine concentration, Leukocytosis, Thrombocytopenia |
ORPHA:90060 |
Caroli Disease |
|
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit... |
ORPHA:53035 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Lymphopenia |
ORPHA:391307 |
Glycogen Storage Disease Ixc |
|
Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hepatomegaly, Bile duct proliferation |
OMIM:613027 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Reticulocytosis... |
OMIM:274150 |
Sarcoidosis, Susceptibility To, 2 |
|
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly |
OMIM:612387 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Lymphopenia, T lymphocytopenia, Lymphadenopathy, Neutropenia, Autoimmune thrombocytopenia |
OMIM:607944 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Bone marrow hypocellularity, Pancytopenia, Thrombocytopenia |
OMIM:613987 |
Hereditary Spherocytosis |
|
Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration... |
ORPHA:822 |
Adams-Oliver Syndrome 6 |
|
Hepatic fibrosis, Portal hypertension, Splenomegaly |
OMIM:616589 |
Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia |
OMIM:600901 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Megaloblastic anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:613839 |
Niemann-Pick Disease, Type C1 |
|
Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Prolonged neonatal jaundice, Hepatomegaly, B... |
OMIM:257220 |
Majeed Syndrome |
|
Leukocytosis, Splenomegaly, Hypochromic microcytic anemia, Congenital hypoplastic anemia, Hepatom... |
ORPHA:77297 |
Pearson Marrow-Pancreas Syndrome |
|
Exocrine pancreatic insufficiency, Sideroblastic anemia, Pancytopenia, Hepatomegaly, Refractory s... |
OMIM:557000 |
Mycosis Fungoides |
|
Lymphadenopathy |
OMIM:254400 |
Smith-Kingsmore Syndrome |
|
Decreased circulating IgA level, Thrombocytopenia |
OMIM:616638 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Thrombocytopenia, Thiamine-responsive megaloblastic anemia |
OMIM:249270 |
Moyamoya Disease 6 With Or Without Achalasia |
|
Thrombocytopenia |
OMIM:615750 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level |
OMIM:300971 |
Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612562 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Abnormal lymph node morphology, Hepatosplenomegaly, Hepatomegaly, Lymphadenopathy, Anemia |
ORPHA:85450 |
Osteopetrosis, Autosomal Recessive 1 |
|
Osteomyelitis, Pancytopenia, Splenomegaly, Hypocalcemia, Thrombocytopenia, Anemia |
OMIM:259700 |
Cartilage-Hair Hypoplasia |
|
Hepatomegaly, Neutropenia, Anemia, Decreased circulating antibody level, Abnormality of the pancreas |
ORPHA:175 |
Hypocomplementemic Urticarial Vasculitis |
|
Hepatomegaly, Splenomegaly, Ascites, Lymphadenopathy |
ORPHA:36412 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Decreased circulating IgG level, Neutropenia |
OMIM:271510 |
Familial Pancreatic Carcinoma |
|
Peritoneal abscess, Pancreatic adenocarcinoma, Exocrine pancreatic insufficiency, Hepatosplenomeg... |
ORPHA:1333 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Intrahepatic cholestasis, Giant cell hepatitis, Splenomegaly, Cirrhosis, Acholic stools, Hepatome... |
OMIM:607765 |
Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia |
OMIM:227650 |
Cryptogenic Organizing Pneumonia |
|
Leukocytosis, Neutrophilia |
ORPHA:1302 |
Fanconi Anemia, Complementation Group D2 |
|
Bone marrow hypocellularity, Annular pancreas, Pancytopenia, Anemia, Reticulocytopenia, Neutropen... |
OMIM:227646 |
Sengers Syndrome |
|
Thrombocytopenia |
OMIM:212350 |
Psoriasis 14, Pustular |
|
Leukocytosis, Neutrophilia |
OMIM:614204 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Hepatomegaly, Peritonitis, Increased circulating IgA level, Lymphadenopathy |
ORPHA:343 |
Autoinflammatory Disease, Systemic, With Vasculitis |
|
Atopic dermatitis, Increased circulating interleukin 6 concentration, Conjunctivitis, Parotitis, ... |
OMIM:620376 |
Pearson Syndrome |
|
Bone marrow hypocellularity, Exocrine pancreatic insufficiency, Pancytopenia, Abnormality of the ... |
ORPHA:699 |
Catastrophic Antiphospholipid Syndrome |
|
Microangiopathic hemolytic anemia, Abnormal circulating cytokine concentration, Coombs-positive h... |
ORPHA:464343 |
Trichothiodystrophy |
|
Anemia, Increased mean corpuscular hemoglobin concentration, Neutropenia, Panhypogammaglobulinemia |
ORPHA:33364 |
Budd-Chiari Syndrome |
|
Ascites, Portal hypertension, Splenomegaly, Cholecystitis, Peritonitis, Cirrhosis, Hepatomegaly, ... |
ORPHA:131 |
Tufted Angioma |
|
Anemia, Thrombocytopenia |
ORPHA:1063 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Leukocytosis, R... |
ORPHA:90038 |
Lymphatic Filariasis |
|
Hypereosinophilia |
ORPHA:2035 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Reduced number of intrahepatic bile ducts, Megaloblastic anemia, Neutropenia |
ORPHA:79284 |
Shigellosis |
|
Pneumonia, Conjunctivitis, Microangiopathic hemolytic anemia, Ulcerative colitis, Leukocytosis, H... |
ORPHA:810 |
Lysinuric Protein Intolerance |
|
Hemophagocytosis, Increased LDL cholesterol concentration, Hepatosplenomegaly, Hyperglycinemia, I... |
ORPHA:470 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ... |
ORPHA:99901 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Increased circulating IgE level, Eosinophilia, Cutaneous abscess, Recurrent cutaneous abscess for... |
OMIM:147060 |
Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Hepatosplenomegaly, Splenomegaly, Abnormal lymphatic vessel morphology, Abnorma... |
ORPHA:464329 |
Graft Versus Host Disease |
|
Hemophagocytosis, Hepatosplenomegaly, Lymphadenopathy, Chronic hepatitis, Acute hepatitis, Jaundice |
ORPHA:39812 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Hilar lymph node enlargement, Cholestasis, Leukocytosis, Hepatomegaly, Mediastinal lymphadenopathy |
OMIM:620233 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Inflammatory abnormality of the skin, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, H... |
ORPHA:391487 |
Mirage Syndrome |
|
Lymphopenia, Leukopenia, Thrombocytopenia, Anemia, Hypoplastic spleen |
OMIM:617053 |
Preeclampsia |
|
Elevated circulating creatinine concentration, Thrombocytopenia |
ORPHA:275555 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatitis, Splenomegaly, Ductal bile plugs, ... |
OMIM:613812 |
Hereditary Elliptocytosis |
|
Cholelithiasis, Stomatocytosis, Abnormal erythrocyte morphology, Congenital hemolytic anemia, Ret... |
ORPHA:288 |
Insulin-Resistance Syndrome Type B |
|
Hypoalbuminemia, Nephritis, Pneumonia, Hypotriglyceridemia, Abnormal circulating lipid concentrat... |
ORPHA:2298 |
Snakebite Envenomation |
|
Hyponatremia, Thrombocytopenia |
ORPHA:449285 |
Rift Valley Fever |
|
Hepatitis, Skin rash, Infectious encephalitis, Thrombocytopenia, Anemia, Increased circulating Ig... |
ORPHA:319251 |
Alg12-Cdg |
|
Hypoalbuminemia, Recurrent pneumonia, Abnormal circulating IgM level, Hypocholesterolemia, Comple... |
ORPHA:79324 |
Klatskin Tumor |
|
Cholangiocarcinoma, Lymphadenopathy, Hepatomegaly, Jaundice, Extrahepatic cholestasis |
ORPHA:99978 |
Holocarboxylase Synthetase Deficiency |
|
Skin rash, Hyperammonemia, Thrombocytopenia |
OMIM:253270 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Thrombocytopenia, Normochromic anemia, Elevated circulating creatine kinase concentration |
OMIM:618775 |
Infantile Liver Failure Syndrome 3 |
|
Hepatic bridging fibrosis, Cholestasis, Hepatic steatosis, Splenomegaly, Hepatomegaly, Jaundice |
OMIM:618641 |
Herpes Simplex Virus Encephalitis |
|
Leukocytosis, Neutrophilia |
ORPHA:1930 |
Osteopetrosis, Autosomal Recessive 7 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Splenomegaly, Hepatomegaly, Ane... |
OMIM:612301 |
Braddock-Carey Syndrome 2 |
|
Thrombocytopenia |
OMIM:619981 |
Acute Radiation Syndrome |
|
Lymphopenia, Granulocytopenia, Thrombocytopenia |
ORPHA:454831 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Pancreatic hypoplasia, Cervical lymphadenopathy, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, ... |
OMIM:602782 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Neutropenia |
OMIM:615471 |
Saul-Wilson Syndrome |
|
Neutropenia |
OMIM:618150 |
Polycythemia Vera |
|
Acute leukemia, Polycythemia, Leukocytosis, Splenomegaly, Portal hypertension, Portal vein thromb... |
ORPHA:729 |
Mogs-Cdg |
|
Decreased circulating IgG level, Decreased circulating IgA level, Hepatosplenomegaly, Thrombocyto... |
ORPHA:79330 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Hepatomegaly, Splenomegaly, Abscess, Neutrophilia |
OMIM:612852 |
Wilson Disease |
|
Hepatitis, Acute hepatitis, Splenomegaly, Arthritis, Thrombocytopenia, Anemia |
ORPHA:905 |
Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Pneumonia, Atopic dermatitis, Hepatitis, Increased circulating ferritin conce... |
OMIM:615846 |
Malt Lymphoma |
|
Anemia, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:52417 |
Middle Ear Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy |
ORPHA:100084 |
Von Willebrand Disease, Type 3 |
|
Thrombocytopenia, Impaired platelet aggregation |
OMIM:277480 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Hypomagnesemia, Hypophosphatemic rickets, Elevated circulating creatine kinase concentration, Hyp... |
OMIM:619743 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Cholestatic liver disease, Polysplenia, Exocrine pancreatic insufficiency, Sple... |
OMIM:619418 |
Stt3B-Cdg |
|
Thrombocytopenia |
ORPHA:370924 |
Acquired Hypertrichosis Lanuginosa |
|
Lymphadenopathy |
ORPHA:2221 |
Niemann-Pick Disease, Type C2 |
|
Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice, J... |
OMIM:607625 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Hepatitis, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Portal hypertension, Cirrhosis, Neutr... |
ORPHA:228426 |
Alg8-Cdg |
|
Hyponatremia, Anemia, Thrombocytopenia |
ORPHA:79325 |
Syndromic Diarrhea |
|
Hepatic fibrosis, Panhypogammaglobulinemia, Lymphopenia, Abnormality of the liver, Splenomegaly, ... |
ORPHA:84064 |
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
Thrombocytopenia |
OMIM:616577 |
Reynolds Syndrome |
|
Biliary cirrhosis, Cholestasis, Lymphopenia, Splenomegaly, Hepatomegaly, Jaundice |
OMIM:613471 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Thrombocytopenia |
OMIM:615597 |
Lujo Hemorrhagic Fever |
|
Lymphopenia, Leukopenia, Leukocytosis, Skin rash, Maculopapular exanthema, Thrombocytopenia, Myoc... |
ORPHA:319213 |
Primary Sjögren Syndrome |
|
Arteritis, Lymphopenia, Chronic hepatitis, Decreased proportion of CD4-positive helper T cells, I... |
ORPHA:289390 |
Tangier Disease |
|
Hepatosplenomegaly, Chronic noninfectious lymphadenopathy, Left ventricular hypertrophy, Orange d... |
ORPHA:31150 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
Hermansky-Pudlak Syndrome 5 |
|
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytopenia |
OMIM:614074 |
Nephroblastoma |
|
Neoplasm of the liver, Lymphadenopathy |
ORPHA:654 |
Lig4 Syndrome |
|
Pancytopenia, Psoriasiform dermatitis, Chronic sinusitis, Thrombocytopenia, Acute lymphoblastic l... |
OMIM:606593 |
Thrombocytopenia 3 |
|
Decreased mean platelet volume, Thrombocytopenia |
OMIM:273900 |
Diamond-Blackfan Anemia |
|
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... |
ORPHA:124 |
Bloom Syndrome |
|
Decreased circulating IgG level, Recurrent tonsillitis, Decreased circulating IgA level, Decrease... |
ORPHA:125 |
Pediatric-Onset Graves Disease |
|
Splenomegaly, Thrombocytopenia, Neutropenia in presence of anti-neutropil antibodies, Hepatomegal... |
ORPHA:525731 |
Adams-Oliver Syndrome 5 |
|
Portal vein thrombosis, Hypersplenism, Right ventricular hypertrophy, Splenomegaly |
OMIM:616028 |
Acute Interstitial Pneumonia |
|
Reduced hematocrit, Lymphadenopathy |
ORPHA:79126 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Neoplasm of the liver, Lymphadenopathy |
ORPHA:424019 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Leukopenia, Thrombocytopenia, Elevated circulating creatine kinase concentration |
OMIM:301056 |
Staphylococcal Necrotizing Pneumonia |
|
Leukopenia, Leukocytosis, Neutrophilia |
ORPHA:36238 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Aplastic anemia, Congenital thrombocytopenia, Amegakaryocytic thrombocytopenia |
OMIM:605432 |
Carney Triad |
|
Anemia, Mediastinal lymphadenopathy, Lymphadenopathy, Ascites |
ORPHA:139411 |
Lysinuric Protein Intolerance |
|
Intraalveolar phospholipid accumulation, Hemophagocytosis, Increased circulating ferritin concent... |
OMIM:222700 |
Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Pancreatitis, Splenomegaly |
OMIM:207750 |
Farber Disease |
|
Hepatic fibrosis, Ascites, Hepatosplenomegaly, Lymphadenopathy, Thrombocytopenia, Intrahepatic ch... |
ORPHA:333 |
Familial Thrombocytosis |
|
Chronic myelogenous leukemia, Acute myeloid leukemia, Splenomegaly, Thrombocytosis |
ORPHA:71493 |
Gaucher Disease, Type Iiic |
|
Cardiomegaly, Hepatomegaly, Pancytopenia, Splenomegaly |
OMIM:231005 |
Neuroblastoma |
|
Anemia, Abdominal mass, Lymphadenopathy, Thrombocytopenia |
ORPHA:635 |
Von Willebrand Disease |
|
Microcytic anemia, Abnormal platelet function, Abnormality of thrombocytes, Thrombocytopenia |
ORPHA:903 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatic fibrosis, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cholangitis, Intrahe... |
OMIM:607626 |
Marburg Hemorrhagic Fever |
|
Hypoalbuminemia, Neutrophilia in presence of infection, Uveitis, Elevated circulating creatinine ... |
ORPHA:99826 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Giant cell hepatitis, Conjugated hyperbilirubinemia, Thrombocytopenia |
OMIM:208085 |
Immune Thrombocytopenia |
|
Thrombocytopenia |
ORPHA:3002 |
Leigh Syndrome |
|
Anemia, Neutropenia |
ORPHA:506 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole... |
OMIM:208540 |
H Syndrome |
|
Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy, Histiocytosis, Enlarged kidney |
ORPHA:168569 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Decreased erythrocyte fructose-1,... |
OMIM:611881 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Neutropenia |
OMIM:618005 |
Neuroleptic Malignant Syndrome |
|
Hyperphosphatemia, Hypomagnesemia, Aspiration pneumonia, Leukocytosis, Hypocalcemia, Hyperuricemi... |
ORPHA:94093 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Lymphadenopathy |
ORPHA:411703 |
Thyroid Lymphoma |
|
Lymphadenopathy |
ORPHA:97285 |
Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Dysgammaglobulinemia, Thrombocytopenia, B lymphocytopenia, T lymphoc... |
OMIM:251260 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Increased circulating interleukin 8 concentration, Conjunctivitis, Increased circulating interfer... |
OMIM:256040 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Eczematoid dermatitis, Thrombocytopenia |
ORPHA:96181 |
Immunodeficiency 87 And Autoimmunity |
|
Cervical lymphadenopathy, Lymphopenia, Decreased CD4:CD8 ratio, Cholestasis, Ascites, Autoimmune ... |
OMIM:619573 |
Cohen Syndrome |
|
Neutropenia |
ORPHA:193 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hypoalbuminemia, Hyperbilirubinemia, Splenomegaly, Thrombocytopenia, Elevated circulating alpha-f... |
OMIM:251880 |
Khan-Khan-Katsanis Syndrome |
|
Anemia, Lymphopenia, Neutropenia |
OMIM:618460 |
Congenital Syphilis |
|
Pneumonia, Keratitis, Extramedullary hematopoiesis, Hepatosplenomegaly, Synovitis, Pancreatitis, ... |
ORPHA:499009 |
Sarcoidosis |
|
Leukopenia, Increased T cell count, Eosinophilia, Thrombocytopenia, Anemia, Hemolytic anemia |
ORPHA:797 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Hepatomegaly, Thrombocytopenia, Megaloblastic anemia, Neutropenia |
OMIM:277400 |
Tick-Borne Encephalitis |
|
Myelitis, Leukopenia, Abnormal circulating cytokine concentration, Leukocytosis, Thrombocytopenia... |
ORPHA:297 |
Congenital Erythropoietic Porphyria |
|
Seborrhoeic blepharitis, Leukopenia, Erythroid hyperplasia, Abnormal circulating porphyrin concen... |
ORPHA:79277 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Peritonitis, Leukocytosis, Splenomegaly, Lymphadenopathy |
ORPHA:32960 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Hypoalbuminemia, Decreased circulating IgG level, Bone marrow hypocellularity, Hepatosplenomegaly... |
ORPHA:505248 |
Leukocyte Adhesion Deficiency |
|
Bone marrow hypocellularity, Abnormality of neutrophil physiology, Polycythemia, Thrombocytosis, ... |
ORPHA:2968 |
Osteopetrosis, Autosomal Recessive 5 |
|
Extramedullary hematopoiesis, Pancytopenia, Hepatosplenomegaly, Hyperbilirubinemia, Hypocalcemia,... |
OMIM:259720 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Hypoalbuminemia, Thrombocytopenia, Normochromic anemia |
OMIM:254900 |
Sarcoidosis, Susceptibility To, 1 |
|
Pancytopenia, Abnormality of T cell physiology, Splenomegaly, Increased circulating antibody leve... |
OMIM:181000 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Anemia, Thrombocytopenia, Elevated hepatic iron concentration |
OMIM:614946 |
Toxic Epidermal Necrolysis |
|
Anemia, Thrombocytopenia, Pancreatitis, Neutropenia |
ORPHA:537 |
Hoyeraal-Hreidarsson Syndrome |
|
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Abnormal leukocyte morphology |
ORPHA:3322 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Thrombocytopenia |
OMIM:617710 |
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay |
|
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume |
OMIM:620475 |
Anaplastic Thyroid Carcinoma |
|
Lymphadenopathy |
ORPHA:142 |
Familial Mediterranean Fever |
|
Ascites, Leukocytosis, Splenomegaly, Peritonitis, Pancreatitis, Lymphadenopathy |
ORPHA:342 |
Infection-Related Hemolytic Uremic Syndrome |
|
Abnormal circulating chemokine concentration, Pneumonia, Septic arthritis, Leukocytosis, Hypocalc... |
ORPHA:544482 |
Medullary Thyroid Carcinoma |
|
Abnormal liver parenchyma morphology, Lymphadenopathy |
ORPHA:1332 |
Braddock-Carey Syndrome 1 |
|
Thrombocytopenia |
OMIM:619980 |
Thrombocytopenia 10 |
|
Decreased mean platelet volume, Thrombocytopenia |
OMIM:620484 |
Hereditary Chronic Pancreatitis |
|
Leukocytosis |
ORPHA:676 |
Secondary Intestinal Lymphangiectasia |
|
Decreased circulating IgG1 level, Lymphopenia, Decreased circulating IgA level, Cirrhosis, Chylou... |
ORPHA:90363 |
Wolfram Syndrome 1 |
|
Sideroblastic anemia, Megaloblastic anemia, Thrombocytopenia |
OMIM:222300 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Cholelithiasis, Pancreatic hypoplasia, Hepatomegaly, Biliary hyperplasia, Decreased circulating t... |
ORPHA:83617 |
Gaucher Disease Type 3 |
|
Pancytopenia, Splenomegaly, Increased circulating antibody level, Hepatomegaly, Thrombocytopenia,... |
ORPHA:77261 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Bone marrow hypocellularity, Pancytopenia, Aplastic anemia, Thrombocytopenia |
OMIM:224230 |
Immunodeficiency 58 |
|
Cutaneous abscess, Decreased specific antibody response to vaccination, Decreased T cell activati... |
OMIM:618131 |
Familial Mediterranean Fever |
|
Leukocytosis, Splenomegaly, Peritonitis, Neutrophilia, Hepatomegaly |
OMIM:249100 |
Thymic Neuroendocrine Tumor |
|
Neoplasm of the thymus, Mediastinal lymphadenopathy, Pancreatic islet cell adenoma, Chronic nonin... |
ORPHA:97289 |
Pancreatoblastoma |
|
Pancreatic calcification, Jaundice, Abnormal lymph node morphology |
ORPHA:677 |
Crimean-Congo Hemorrhagic Fever |
|
Ascites, Pancytopenia, Leukopenia, Leukocytosis, Splenomegaly, Cholecystitis, Jaundice, Lymphaden... |
ORPHA:99827 |
Diamond-Blackfan Anemia 1 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... |
OMIM:105650 |
Zygomycosis |
|
Brain abscess, Hepatitis, Peritonitis, Pancreatitis, Splenic abscess, Neutropenia, Mediastinal ly... |
ORPHA:73263 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatic steatosis, Increased hepatic glycogen content, Hepatomegaly, Hepatocellular adenoma, Panc... |
ORPHA:79259 |
Generalized Pustular Psoriasis |
|
Lymphopenia, Leukocytosis |
ORPHA:247353 |
Fanconi Anemia, Complementation Group F |
|
Pneumonia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia, Anemia |
OMIM:603467 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Jaundice, Thrombocytopenia, Megaloblastic anemia, Neutropenia |
ORPHA:79282 |
Thrombocytopenia 6 |
|
Thrombocytopenia |
OMIM:616937 |
Rothmund-Thomson Syndrome |
|
Leukemia, Anemia, Aplastic anemia, Neutropenia |
ORPHA:2909 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Neutropenia |
OMIM:617799 |
Beemer-Ertbruggen Syndrome |
|
Thrombocytopenia |
ORPHA:1237 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Increased circulating IgG4 level, Myositis, Increased circulating IgA level, Keratoconjunctivitis... |
ORPHA:79078 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatic fibrosis, Periportal fibrosis, Portal hypertension, Splenomegaly, Hepatic cysts, Hepatome... |
OMIM:263200 |
Primary Biliary Cholangitis |
|
Hepatic fibrosis, Biliary cirrhosis, Hepatitis, Ascites, Portal hypertension, Splenomegaly, Abnor... |
ORPHA:186 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Anemia, Giant platelets, Thrombocytopenia |
OMIM:611209 |
Hyperlipoproteinemia, Type I |
|
Jaundice, Hepatosplenomegaly, Acute pancreatitis, Splenomegaly |
OMIM:238600 |
Rothmund-Thomson Syndrome Type 1 |
|
Leukemia, Anemia, Aplastic anemia, Neutropenia |
ORPHA:221008 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Lymphopenia, Polymicrogyria |
OMIM:619708 |
Viss Syndrome |
|
Increased circulating IgE level, Increased circulating IgG level, Decreased circulating IgA level... |
OMIM:619472 |
Glycogen Storage Disease Ic |
|
Cyclic neutropenia, Chronic pancreatitis, Hepatoblastoma, Hepatomegaly, Hepatocellular carcinoma |
OMIM:232240 |
Aicardi-Goutieres Syndrome 1 |
|
Chilblains, Splenomegaly, Thrombocytopenia |
OMIM:225750 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Anemia, Hepatosplenomegaly, Lymphadenopathy |
ORPHA:85408 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Decreased circulating iron concentration, Pancytopenia, Leukopenia, Erythroid hyperplasia, Reticu... |
ORPHA:447 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Vacuolated lymphocytes, Pancreatitis, Splenomegaly |
ORPHA:565612 |
X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent cutaneous abscess formation, Neutropenia |
ORPHA:163956 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatic fibrosis, Cholelithiasis, Portal hypertension, Hepatic steatosis, Splenomegaly, Biliary h... |
ORPHA:567983 |
Melkersson-Rosenthal Syndrome |
|
Lymphadenopathy |
ORPHA:2483 |
Sweet Syndrome |
|
Leukocytosis, Chronic lymphatic leukemia, Acute myeloid leukemia, Sterile abscess, Neutrophilia, ... |
ORPHA:3243 |
Caroli Syndrome |
|
Hypersplenism, Hyperbilirubinemia, Leukopenia, Leukocytosis, Pancreatitis, Thrombocytopenia, Chol... |
ORPHA:480520 |
Say-Barber-Miller Syndrome |
|
Decreased circulating IgG level, Transient hypogammaglobulinemia of infancy, Impaired neutrophil ... |
ORPHA:3132 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
High nonceruloplasmin-bound serum copper, Thrombocytopenia |
ORPHA:457351 |
Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Recurrent pancreatitis, Pancreatitis, Splenomegaly |
OMIM:615947 |
Rothmund-Thomson Syndrome Type 2 |
|
Leukemia, Anemia, Aplastic anemia, Neutropenia |
ORPHA:221016 |
Gaucher Disease |
|
Splenic infarction, Hepatitis, Increased circulating ferritin concentration, Osteomyelitis, Pancy... |
ORPHA:355 |
Hermansky-Pudlak Syndrome |
|
Neutropenia |
ORPHA:79430 |
Hennekam-Beemer Syndrome |
|
Mastocytosis |
ORPHA:2135 |
Yellow Fever |
|
Elevated circulating creatinine concentration, Hyperbilirubinemia, Leukocytosis, Skin rash, Eleva... |
ORPHA:99829 |
Recon Progeroid Syndrome |
|
Anemia, Keratoconjunctivitis sicca, Thrombocytopenia |
OMIM:620370 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Thrombocytopenia |
OMIM:611126 |
Cushing Disease |
|
Lymphopenia, Decreased eosinophil count, Leukocytosis |
ORPHA:96253 |
16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Chronic otitis media, Thrombocytopenia |
ORPHA:261250 |
Tropical Endomyocardial Fibrosis |
|
Eosinophilia, Splenomegaly |
ORPHA:75565 |
Pseudo-Torch Syndrome 2 |
|
Thrombocytopenia |
OMIM:617397 |
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies |
|
Recurrent otitis media, Lymphopenia, Pancytopenia, Leukopenia, Thrombocytopenia, Anemia |
OMIM:620654 |
Blue Rubber Bleb Nevus |
|
Iron deficiency anemia, Thrombocytopenia |
OMIM:112200 |
Systemic Lupus Erythematosus |
|
Leukopenia, Hemolytic anemia, Lymphadenopathy, Thrombocytopenia |
ORPHA:536 |
Leukocyte Adhesion Deficiency Type Ii |
|
Microcytic anemia, Leukocytosis, Hepatomegaly, Abnormal isohemagglutinin level, Neutrophilia, Anemia |
ORPHA:99843 |
Wilson Disease |
|
Hypouricemia, Hypoalbuminemia, Hemolytic anemia, Hyperbilirubinemia, Splenomegaly, Increased circ... |
OMIM:277900 |
Porphyria, Congenital Erythropoietic |
|
Elevated circulating uroporphyrin concentration, Splenomegaly, Thrombocytopenia, Reduced erythroc... |
OMIM:263700 |
Hemorrhagic Fever-Renal Syndrome |
|
Pneumonia, Hyperphosphatemia, Elevated circulating creatinine concentration, Leukocytosis, Anemia... |
ORPHA:340 |
Noonan Syndrome 4 |
|
Thrombocytopenia |
OMIM:610733 |
Gaucher Disease, Type Ii |
|
Anemia, Recurrent aspiration pneumonia, Splenomegaly, Thrombocytopenia |
OMIM:230900 |
Neuroendocrine Tumor Of Stomach |
|
Hepatomegaly, Iron deficiency anemia, Chronic noninfectious lymphadenopathy |
ORPHA:100075 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Anemia, Recurrent otitis media, Thrombocytopenia |
ORPHA:261323 |
Osteopetrosis With Renal Tubular Acidosis |
|
Bone marrow hypocellularity, Pancytopenia, Leukopenia, Hypocalcemia, Elevated circulating creatin... |
ORPHA:2785 |
Takenouchi-Kosaki Syndrome |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:616737 |
Fanconi Anemia, Complementation Group B |
|
Aplastic anemia, Thrombocytopenia |
OMIM:300514 |
Gallbladder Neuroendocrine Tumor |
|
Biliary tract neoplasm, Ascites, Chronic noninfectious lymphadenopathy, Cholecystitis, Intermitte... |
ORPHA:100086 |
Adams-Oliver Syndrome |
|
Leukopenia, Thrombocytopenia |
ORPHA:974 |
Sponastrime Dysplasia |
|
Decreased circulating antibody level, Neutropenia |
ORPHA:93357 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Transient neutropenia, Chronic neutropenia, Enlarged kidney |
ORPHA:500095 |
Gaucher Disease, Perinatal Lethal |
|
Anemia, Hepatosplenomegaly, Splenomegaly, Thrombocytopenia |
OMIM:608013 |
Ileal Neuroendocrine Tumor |
|
Iron deficiency anemia, Lymphadenopathy, Extrahepatic cholestasis |
ORPHA:100078 |
Pulmonary Capillary Hemangiomatosis |
|
Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:199241 |
Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Thrombocytopenia, Hyperglycinemia, Hypernatremia |
OMIM:620423 |
Diamond-Blackfan Anemia 21 |
|
Erythroid hypoplasia, Anemia, Thrombocytopenia |
OMIM:620072 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Abnormal circulating lipid concentration, Increased LDL cholesterol concentration, Hypersplenism,... |
ORPHA:77293 |
3-Methylglutaconic Aciduria, Type Viii |
|
Jaundice, Neutropenia |
OMIM:617248 |
Stevens-Johnson Syndrome |
|
Pancreatitis, Thrombocytopenia, Anemia, Conjunctivitis, Abnormality of neutrophils |
ORPHA:36426 |
Autosomal Recessive Malignant Osteopetrosis |
|
Anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:667 |
Down Syndrome |
|
Polycythemia, Acute megakaryocytic leukemia, Thrombocytopenia, Neutrophilia, Leukemia, Blepharitis |
ORPHA:870 |
Dyskeratosis Congenita |
|
Bone marrow hypocellularity, Periodontitis, Splenomegaly, Thrombocytopenia, Anemia, Abnormality o... |
ORPHA:1775 |
Ivic Syndrome |
|
Leukocytosis, Thrombocytopenia |
ORPHA:2307 |
Alport Syndrome 1, X-Linked |
|
Nephritis, Thrombocytopenia |
OMIM:301050 |
Lathosterolosis |
|
Abnormal platelet morphology, Thrombocytopenia, Anisopoikilocytosis |
ORPHA:46059 |
Leptospirosis |
|
Uveitis, Hepatitis, Skin rash, Optic neuritis, Thrombocytopenia, Hyperproteinemia, Pericarditis |
ORPHA:509 |
Hellp Syndrome |
|
Decreased mean corpuscular hemoglobin concentration, Thrombocytopenia, Hemolytic anemia, Microang... |
ORPHA:244242 |
Thauvin-Robinet-Faivre Syndrome |
|
Transient neutropenia |
OMIM:617107 |
Bcard Syndrome |
|
Thrombocytopenia |
OMIM:612394 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Thrombocytopenia |
ORPHA:572798 |
Joint Contractures, Osteochondromas, And B-Cell Lymphoma |
|
Generalized lymphadenopathy |
OMIM:620232 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Anemia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:612199 |
Dubowitz Syndrome |
|
Eczematoid dermatitis, Thrombocytopenia, Anemia, Abnormality of neutrophils, Acute lymphoblastic ... |
ORPHA:235 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Neonatal alloimmune thrombocytopenia |
ORPHA:853 |
Liver Disease, Severe Congenital |
|
Pneumonia, Eczematoid dermatitis, Increased circulating ferritin concentration, Recurrent otitis ... |
OMIM:619991 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hyperbilirubinemia, Thrombocytopenia |
ORPHA:464321 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Anemia, Hyperbilirubinemia, Hypocalcemia, Thrombocytopenia |
ORPHA:163979 |
Riddle Syndrome |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
ORPHA:420741 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Abnormal lymph node morphology, Neoplasm of the thymus, Lymphopenia, Pancreatic adenocarcinoma, L... |
ORPHA:99889 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Seborrheic dermatitis, Splenomegaly, Thrombocytopenia, Aspiration pneumonia |
OMIM:301072 |
Kawasaki Disease |
|
Hepatitis, Cervical lymphadenopathy, Leukocytosis, Cholecystitis, Thrombocytosis, Jaundice |
ORPHA:2331 |
22Q11.2 Deletion Syndrome |
|
Abnormality of thrombocytes, Impaired T cell function, Hypocalcemia, Splenomegaly, Hypoplasia of ... |
ORPHA:567 |
Oculocerebrorenal Syndrome Of Lowe |
|
Periodontitis, Hyponatremia, Hypokalemia, Hypophosphatemia, Hypercholesterolemia, Hypoammonemia, ... |
ORPHA:534 |
Ivic Syndrome |
|
Leukocytosis, Thrombocytopenia |
OMIM:147750 |
Thrombocytopenia-Absent Radius Syndrome |
|
Thrombocytopenia |
ORPHA:3320 |
Aicardi-Goutières Syndrome |
|
Neonatal alloimmune thrombocytopenia, Increased circulating interferon-gamma concentration, Hepat... |
ORPHA:51 |
Cornelia De Lange Syndrome 1 |
|
Pneumonia, Otitis media, Thrombocytopenia |
OMIM:122470 |
Aspartylglucosaminuria |
|
Hepatomegaly, Vacuolated lymphocytes, Neutropenia |
OMIM:208400 |
Dyskeratosis Congenita, X-Linked |
|
Bone marrow hypocellularity, Pancytopenia, Leukopenia, Acute myeloid leukemia, Thrombocytopenia, ... |
OMIM:305000 |
Exercise-Induced Malignant Hyperthermia |
|
Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Thrombocytop... |
ORPHA:466650 |
Atelis Syndrome 2 |
|
Anemia, Thrombocytopenia |
OMIM:620185 |
Velocardiofacial Syndrome |
|
Impaired T cell function |
OMIM:192430 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Decreased hemoglobin concentration, Thrombocytopenia |
OMIM:619005 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Abnormality of T cell physiology |
ORPHA:2237 |
Ogden Syndrome |
|
Polycythemia, Eczematoid dermatitis, Recurrent otitis media, Hyperbilirubinemia, Iron deficiency ... |
OMIM:300855 |
Nijmegen Breakage Syndrome |
|
Recurrent pneumonia, Acute leukemia, Autoimmune hemolytic anemia, Thrombocytopenia, Hemolytic anemia |
ORPHA:647 |
Digeorge Syndrome |
|
Recurrent pneumonia, Impaired T cell function, Recurrent otitis media, Splenomegaly, Hypocalcemia... |
OMIM:188400 |
Autosomal Recessive Polycystic Kidney Disease |
|
Recurrent pneumonia, Hypersplenism, Hepatosplenomegaly, Splenomegaly, Increased serum bile acid c... |
ORPHA:731 |
Blau Syndrome |
|
Anemia, Abnormality of the liver, Splenomegaly, Lymphadenopathy |
ORPHA:90340 |
Lymphangioleiomyomatosis |
|
Ascites, Pulmonary lymphangiomyomatosis, Lymphadenopathy, Abnormality of the lymphatic system |
ORPHA:538 |
Fibular Hemimelia |
|
Thrombocytopenia |
ORPHA:93323 |
Behçet Disease |
|
Pancreatitis, Splenomegaly, Lymphadenopathy |
ORPHA:117 |
Hardikar Syndrome |
|
Hepatosplenomegaly, Hyperbilirubinemia, Hypersplenism, Splenomegaly, Pyelonephritis, Thrombocytop... |
OMIM:301068 |
Jacobsen Syndrome |
|
Bone marrow hypocellularity, Eczematoid dermatitis, Thrombocytopenia |
ORPHA:2308 |
Progeroid Short Stature With Pigmented Nevi |
|
Impaired T cell function |
OMIM:176690 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Anemia, Neutropenia |
ORPHA:95455 |
Deeah Syndrome |
|
Decreased hemoglobin concentration, Thrombocytopenia |
OMIM:619004 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Thrombocytopenia, Increased mean platelet volume |
ORPHA:487796 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Bacterial endocarditis, Abnormality of the spleen, Hepatosplenomegaly, Pancytopenia, Splenomegaly... |
ORPHA:2072 |
Acute Liver Failure |
|
Skin rash, Hepatitis, Hyperammonemia, Thrombocytopenia |
ORPHA:90062 |
Jacobsen Syndrome |
|
Thrombocytopenia |
OMIM:147791 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Microcytic anemia, Recurrent otitis media, Splenomegaly, Thrombocytopenia, Membranoproliferative ... |
OMIM:619525 |
Fanconi Anemia |
|
Anemia, Leukopenia, Thrombocytopenia, Pyridoxine-responsive sideroblastic anemia |
ORPHA:84 |
Dermatomyositis |
|
Abnormal eosinophil morphology |
ORPHA:221 |
Adenocarcinoma Of The Anal Canal |
|
Neoplasm of the liver, Lymphadenopathy |
ORPHA:424016 |
Chikungunya |
|
Cervical lymphadenopathy, Lymphadenopathy |
ORPHA:324625 |
African Trypanosomiasis |
|
Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Hepatomegaly, Jaundice |
ORPHA:3385 |
Osteogenesis Imperfecta |
|
Osteoarthritis, Thrombocytopenia |
ORPHA:666 |
Roberts Syndrome |
|
Thrombocytopenia |
ORPHA:3103 |
Noonan Syndrome 1 |
|
Synovitis, Juvenile myelomonocytic leukemia, Amegakaryocytic thrombocytopenia |
OMIM:163950 |
Pmm2-Cdg |
|
Impaired neutrophil chemotaxis |
ORPHA:79318 |