Persistent Polyclonal B-Cell Lymphocytosis |
|
Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
Reticular Dysgenesis |
|
Impaired T cell function, Lack of T cell function, Lymphopenia, Leukopenia, Congenital agranulocy... |
OMIM:267500 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Decreased circulating IgG level, Abnormality of the liver, Absence of lymph node germinal center |
OMIM:235550 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Pancytopenia, Splenomegaly, Follicular hyperplasia, Increased circulating antibody level, Hepatom... |
OMIM:614470 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgG level, Impaired memory B cell generation, Absence of lymph node germina... |
OMIM:606843 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy, Hypersplenism, Pancytopenia, Splenomegaly, Decreased helper T cell proportion |
OMIM:183350 |
Glycoprotein Storage Disease |
|
Gout, Splenomegaly |
OMIM:232900 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... |
OMIM:616452 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Splenomegaly, T... |
OMIM:615513 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Abnormally low T cell receptor excision circle level, Atopic dermatitis, T lymphocytopenia, Pneum... |
OMIM:618806 |
Isolated Anencephaly |
|
Adrenal hypoplasia, Thymus hyperplasia, Maternal diabetes |
ORPHA:563609 |
Immunodeficiency 15A |
|
Decreased proportion of memory B cells, Chronic mucocutaneous candidiasis, Cutaneous abscess, Acn... |
OMIM:618204 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulating IgA level, Abnorm... |
OMIM:617514 |
Caspase 8 Deficiency |
|
Decreased circulating IgG level, Decreased circulating IgA level, Decreased CD4:CD8 ratio, Spleno... |
OMIM:607271 |
Immunodeficiency 105 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina... |
OMIM:619924 |
Lymphoproliferative Syndrome 3 |
|
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... |
OMIM:618261 |
Reticuloendotheliosis, X-Linked |
|
Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy |
OMIM:312500 |
Severe Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Hypoplasia ... |
OMIM:300400 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Fluctuating splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia in presence o... |
OMIM:619220 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Absent... |
OMIM:619846 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... |
OMIM:618534 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancyt... |
OMIM:308240 |
Immunodeficiency 109 With Lymphoproliferation |
|
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho... |
OMIM:620282 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Hep... |
OMIM:615285 |
Mantle Cell Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
Immunodeficiency, Common Variable, 5 |
|
Antinuclear antibody positivity, Abnormal T cell count, Abnormal B cell count |
OMIM:613495 |
Osteoarthritis Susceptibility 3 |
|
Joint stiffness, Osteoarthritis of the first carpometacarpal joint, Osteoarthritis of the distal ... |
OMIM:607850 |
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes |
|
T lymphocytopenia |
OMIM:242870 |
Kimura Disease |
|
Increased circulating IgE level, Follicular hyperplasia, Eosinophilia, Lymphadenopathy, Abnormal ... |
ORPHA:482 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Cervical l... |
OMIM:618987 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Increased circulating IgE level, Lymph... |
ORPHA:169154 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly |
OMIM:619813 |
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 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Abnormally low T cell receptor excision circle level, Panhypogammaglobulinemia, Increased circula... |
OMIM:602450 |
Felty Syndrome |
|
Rheumatoid arthritis, Splenomegaly, Neutropenia |
OMIM:134750 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function |
ORPHA:231393 |
Immunodeficiency 75 With Lymphoproliferation |
|
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia... |
OMIM:619126 |
Combined Immunodeficiency, X-Linked |
|
Pneumonia, Abnormal T cell count, Decreased proportion of CD8-positive T cells, Decreased proport... |
OMIM:312863 |
Hemoglobin H Disease |
|
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia |
OMIM:613978 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Hepatomegaly, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased circulating IgE level, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of mem... |
OMIM:618982 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th... |
ORPHA:444463 |
Mu-Heavy Chain Disease |
|
Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Hepatomegaly, Lymphade... |
ORPHA:100024 |
Autoimmune Lymphoproliferative Syndrome |
|
Reduced delayed hypersensitivity, Chronic noninfectious lymphadenopathy, Splenomegaly, Follicular... |
OMIM:601859 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
Immunodeficiency, Common Variable, 7 |
|
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul... |
OMIM:614699 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu... |
OMIM:607594 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... |
OMIM:605258 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Increased circulating IgE level, Reduced delayed hypersensitivity, Decreased proportion of CD8-po... |
OMIM:617241 |
Immunodeficiency 19 |
|
Recurrent otitis media, Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer ce... |
OMIM:615617 |
Immunodeficiency 50 |
|
Lymphopenia, Decreased circulating antibody level, Neutropenia |
OMIM:300988 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Abnormal proportion of... |
OMIM:212050 |
Alpha-Heavy Chain Disease |
|
Ascites, Splenomegaly, Dysgammaglobulinemia, Hepatomegaly, Lymphadenopathy, Anemia |
ORPHA:100025 |
Chondrocalcinosis 2 |
|
Polyarticular chondrocalcinosis, Osteoarthritis, Arthropathy |
OMIM:118600 |
Immunodeficiency 104 |
|
Hepatomegaly, T lymphocytopenia, Splenomegaly, Lymphadenopathy |
OMIM:608971 |
Immunodeficiency 48 |
|
Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation... |
OMIM:269840 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmunity, Interstitial pneumonitis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in... |
ORPHA:231154 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... |
OMIM:608106 |
Trimethylaminuria |
|
Anemia, Splenomegaly, Neutropenia |
OMIM:602079 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu... |
OMIM:240500 |
Immunodeficiency 13 |
|
Recurrent pneumonia, Recurrent otitis media, Lymphopenia, Decreased CD4:CD8 ratio, Decreased prop... |
OMIM:615518 |
Immunodeficiency 76 |
|
Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia |
OMIM:619164 |
Immunodeficiency 42 |
|
Hepatomegaly, Hypoplasia of the thymus, Splenomegaly |
OMIM:616622 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hemophagocytosis, Hepatosplenomegaly, Abnormal natural killer cell physiology, Splenomegaly, Lymp... |
OMIM:613101 |
Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy |
ORPHA:66661 |
Immunodeficiency 16 |
|
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly |
OMIM:615593 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia, Limitation of joint mobility, Arthritis |
ORPHA:2582 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia |
OMIM:206400 |
Congenital Atransferrinemia |
|
Anemia, Arthritis |
ORPHA:1195 |
Erythroleukemia, Familial, Susceptibility To |
|
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... |
OMIM:133180 |
Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Abnormal macrophage morphology, Hypopl... |
ORPHA:2585 |
Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia |
OMIM:617585 |
Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Nephritis, Autoimmunity, Arthritis |
OMIM:216950 |
Talo-Patello-Scaphoid Osteolysis |
|
Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis, Enlarged joints |
ORPHA:50809 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hemophagocytosis, Hepatosplenomegaly, Anemia, Reduced natural killer cell activity, Granulocytopenia |
OMIM:608898 |
Hemoglobin D Disease |
|
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... |
ORPHA:90039 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... |
OMIM:603902 |
Immunodeficiency 27A |
|
Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly, Lymphadenopathy, Increased circul... |
OMIM:209950 |
Immunodeficiency 68 |
|
Lymphadenitis, Recurrent skin infections, Abscess, B lymphocytopenia, Septic arthritis, Abnormal ... |
OMIM:612260 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly |
OMIM:618852 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Decreased ... |
ORPHA:276 |
Proteus-Like Syndrome |
|
Abnormality of the parathyroid gland, Thymus hyperplasia, Splenomegaly, Polycystic ovaries |
ORPHA:2969 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... |
OMIM:619824 |
Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly |
OMIM:607685 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Splenomegaly |
OMIM:619175 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Otitis media, Purulent rhinitis, Arthritis, B lymphocytopenia, Conjunctivitis, T lymph... |
OMIM:601457 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Glomerulonephritis |
OMIM:247800 |
Hyperbilirubinemia, Shunt, Primary |
|
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega... |
OMIM:237800 |
Thrombocythemia 1 |
|
Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce... |
OMIM:187950 |
Osteoarthritis Susceptibility 2 |
|
Osteoarthritis, Heberden's node |
OMIM:140600 |
Chondrocalcinosis 1 |
|
Chondrocalcinosis, Osteoarthritis |
OMIM:600668 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Splenomegaly, Abnormal hemoglobin |
ORPHA:231242 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Neutropenia, Thrombocytopenia, Ane... |
OMIM:603552 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, Abn... |
OMIM:615214 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Reduced delayed hypersensitivity, Increased B cell count, Hepatomegaly, Chronic noninfectious lym... |
OMIM:603909 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly... |
OMIM:618495 |
Cernunnos-Xlf Deficiency |
|
Lymphopenia, Autoimmunity, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia |
ORPHA:169079 |
Immunodeficiency 69 |
|
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A... |
OMIM:618963 |
Immunodeficiency 97 With Autoinflammation |
|
Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ... |
OMIM:619802 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... |
OMIM:615559 |
Red Cell Phospholipid Defect With Hemolysis |
|
Intermittent jaundice, Splenomegaly, Reticulocytosis |
OMIM:179700 |
Sea-Blue Histiocyte Disease |
|
Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis |
OMIM:269600 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Decreased circulating antibody level, Leukocytosis, Splenomegaly |
OMIM:618042 |
Encephalopathy Due To Prosaposin Deficiency |
|
Hepatomegaly, Splenomegaly |
ORPHA:139406 |
Multicentric Reticulohistiocytosis |
|
Histiocytosis, Arthritis |
ORPHA:139436 |
Schnitzler Syndrome |
|
Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia, Increased circulating IgM level |
ORPHA:37748 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib... |
OMIM:202700 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Lymphadeni... |
OMIM:618986 |
Immunodeficiency 112 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Decreased circulating IgA lev... |
OMIM:620449 |
Developmental Dysplasia Of The Hip 2 |
|
Hip osteoarthritis, Arthritis |
OMIM:615612 |
Angel-Shaped Phalangoepiphyseal Dysplasia |
|
Delayed ossification of carpal bones, Hip osteoarthritis, Premature osteoarthritis, Hyperextensib... |
OMIM:105835 |
Systemic Lupus Erythematosus |
|
Nephritis, Systemic lupus erythematosus, Leukopenia, Malar rash, Antinuclear antibody positivity,... |
OMIM:152700 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Decreased circulating IgG level, Bone marrow hypocellularity, Type I diabetes mellitus, Hemophago... |
OMIM:301078 |
Kienbock Disease |
|
Osteochondritis dissecans, Abnormality of the wrist, Limitation of joint mobility, Osteoarthritis |
ORPHA:97332 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Microcytic anemia, Elbow flexion contracture, Hepatosplenomegaly, Pancytopenia, Knee flexion cont... |
OMIM:604416 |
Transcobalamin Deficiency |
|
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Pancytopenia, Neut... |
ORPHA:859 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat... |
OMIM:611926 |
Immunodeficiency 32B |
|
Impaired oxidative burst, Abnormal circulating IgG level, Splenomegaly, Hepatomegaly, Eosinophili... |
OMIM:226990 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Lymphadenopathy, Neutropenia, B lymphocytopenia, I... |
OMIM:150550 |
Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating IgG level, Decreased circulating IgA level, Thrombocytosis, Leukocytosis, M... |
OMIM:619281 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Neutropenia... |
OMIM:613502 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Thymus hyperplasia |
OMIM:619036 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... |
ORPHA:75564 |
Lymphoproliferative Syndrome 2 |
|
Decreased lymphocyte proliferation in response to mitogen, Aplastic anemia, Hemophagocytosis, Asc... |
OMIM:615122 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Recurrent pneumonia, Inflammatory abnormality of the skin, Recurrent otitis media, Lymphopenia, A... |
ORPHA:277 |
Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia |
ORPHA:231401 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating IgG level, Type I diabetes mellitus, Decreased circulating IgA level, Trans... |
OMIM:619707 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Hepatomegaly, Fetal ascites, Splenomegaly |
OMIM:619462 |
Neonatal Severe Primary Hyperparathyroidism |
|
Hepatomegaly, Abnormal circulating calcium-phosphate regulating hormone concentration, Splenomega... |
ORPHA:417 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Increased circulating IgA level, Cirrhosis, Neutropenia, Hepatomegaly, Impaired Ig class switch r... |
OMIM:308230 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:86893 |
Tyrosinemia Type 1 |
|
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma |
ORPHA:882 |
Immunodeficiency 115 With Autoinflammation |
|
Decreased circulating IgG level, Intestinal lymphangiectasia, Splenomegaly, Partial absence of sp... |
OMIM:620632 |
Specific Granule Deficiency 1 |
|
Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,... |
OMIM:245480 |
Lymphoproliferative Syndrome 1 |
|
Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion... |
OMIM:613011 |
Immunodeficiency 36 With Lymphoproliferation |
|
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Splenomegaly, Chro... |
OMIM:616005 |
Activated Pi3K-Delta Syndrome |
|
Recurrent tonsillitis, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hepatomegaly, Decreased ... |
ORPHA:397596 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Agammaglobulinemia, Absent circulating B cells, Neutropenia, Abnormal T cell morphology, Absent i... |
OMIM:613501 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to anti-CD3, Hy... |
OMIM:619313 |
Indolent Systemic Mastocytosis |
|
Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega... |
ORPHA:98848 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice |
OMIM:224100 |
Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... |
ORPHA:521 |
Erythrocytosis, Familial, 8 |
|
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... |
OMIM:222800 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Splenomegaly, Auto... |
OMIM:616100 |
Immunodeficiency 60 And Autoimmunity |
|
Decreased circulating IgG level, Decreased proportion of memory B cells, Decreased circulating Ig... |
OMIM:618394 |
Osteoarthritis Susceptibility 1 |
|
Hip osteoarthritis |
OMIM:165720 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Aplastic anemia, Hemophagocytosis, Hepatitis, Pancytopenia, Splenomegaly, Hepatomegaly, Decreased... |
OMIM:300635 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Splenomega... |
ORPHA:251380 |
Immunodeficiency 92 |
|
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... |
OMIM:619652 |
Immunodeficiency 57 With Autoinflammation |
|
Inflammation of the large intestine, Reduced natural killer cell count, Skin rash, Perianal absce... |
OMIM:618108 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Decreased circulating IgG level, Increased circulating IgE level, Hypopituitarism, Decreased circ... |
ORPHA:98813 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Impaired Ig class switch recombination, Autoimmune thrombocytopenia, Absence of lymph node germin... |
OMIM:608184 |
Spherocytosis, Type 5 |
|
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... |
OMIM:612690 |
Immunodeficiency 7 |
|
Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepat... |
OMIM:615387 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Abnormally low T cell receptor excision circle level, Reduced delayed hypersensitivity, Lymphopen... |
OMIM:242700 |
Combined Immunodeficiency Due To Zap70 Deficiency |
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Decreased lymphocyte proliferation in response to mitogen, Lymphadenitis, Abnormal lymph node mor... |
ORPHA:911 |
Omenn Syndrome |
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Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Lymphadenopathy, Thro... |
OMIM:603554 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
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Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an... |
OMIM:619375 |
Wolman Disease |
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Hepatomegaly, Adrenal calcification, Splenomegaly |
OMIM:620151 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
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Decreased circulating total IgM, Neutropenia |
OMIM:610798 |
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome |
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Synovial lining hyperplasia, Arthropathy, Constrictive pericarditis, Generalized morning stiffnes... |
OMIM:208250 |
Follicular Lymphoma |
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Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology, Lymphadenopathy |
ORPHA:545 |
Deafness-Lymphedema-Leukemia Syndrome |
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Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo... |
ORPHA:3226 |
Leishmaniasis |
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Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Increased circulating ant... |
ORPHA:507 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
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Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
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Decreased circulating IgG level, Lymphopenia, Leukopenia, Splenomegaly, Hepatomegaly, Decreased c... |
OMIM:620210 |
Hypertriglyceridemia, Transient Infantile |
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Hepatomegaly, Hepatic fibrosis, Hepatic steatosis, Splenomegaly |
OMIM:614480 |
Gray Platelet Syndrome |
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Splenomegaly, Thrombocytopenia |
ORPHA:721 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
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Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke... |
OMIM:619041 |
Niemann-Pick Disease, Type B |
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Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Bone-marrow foam cells |
OMIM:607616 |
Splenoportal Vascular Anomalies |
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Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system, Diabete... |
OMIM:271500 |
Acute Panmyelosis With Myelofibrosis |
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Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye... |
ORPHA:86843 |
Galactose Epimerase Deficiency |
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Hepatomegaly, Jaundice, Splenomegaly |
ORPHA:79238 |
Leukocyte Adhesion Deficiency, Type Iii |
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Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S... |
OMIM:612840 |
Anemia, Congenital Dyserythropoietic, Type Ib |
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Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... |
OMIM:615631 |
Portal Hypertension, Noncirrhotic, 1 |
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Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:617068 |
Immunodeficiency 10 |
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Decreased circulating IgG level, Decreased circulating IgA level, Splenomegaly, Autoimmune hemoly... |
OMIM:612783 |
Familial Cold Autoinflammatory Syndrome 2 |
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Splenomegaly, Leukocytosis, Lymphadenopathy |
OMIM:611762 |
Ghosal Hematodiaphyseal Dysplasia |
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Anemia, Splenomegaly |
ORPHA:1802 |
Immunodeficiency 9 |
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Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Hypoplasia of the ... |
OMIM:612782 |
Hemoglobin E Disease |
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Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... |
ORPHA:2133 |
Purine Nucleoside Phosphorylase Deficiency |
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Decreased lymphocyte proliferation in response to mitogen, Impaired T cell function, Lymphopenia,... |
OMIM:613179 |
Acute Monoblastic/Monocytic Leukemia |
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Hypochromic anemia, Central hypothyroidism, Acute monocytic leukemia, Cervical lymphadenopathy, L... |
ORPHA:514 |
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
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Osteopenia, Limitation of joint mobility, Polyarticular arthritis, Progressive joint destruction,... |
ORPHA:85435 |
Burkitt Lymphoma |
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Abnormal lymph node morphology, Abnormality of the ovary, Abnormality of the spleen, Abnormality ... |
ORPHA:543 |
Immunodeficiency 32A |
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Granuloma, Lymphadenitis, Lymphadenopathy |
OMIM:614893 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
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Brain abscess, Abnormal lymph node morphology, Abnormality of the lymphatic system, Abnormal test... |
ORPHA:54251 |
Griscelli Syndrome Type 2 |
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Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepatomegaly, Jaundice |
ORPHA:79477 |
Polycythemia Vera |
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Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... |
OMIM:263300 |
Sea-Blue Histiocytosis |
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Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy |
ORPHA:158029 |
Immunodeficiency 85 And Autoimmunity |
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Decreased proportion of memory B cells, Reduced natural killer cell count, Eczematoid dermatitis,... |
OMIM:619510 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
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Leukocytosis, Increased proportion of CD4-positive T cells, Increased circulating IgA level, Lymp... |
OMIM:617099 |
Refractory Anemia |
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Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi... |
ORPHA:98826 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
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Cutaneous anergy, Absent natural killer cells, Decreased lymphocyte proliferation in response to ... |
OMIM:600802 |
Immunodeficiency 54 |
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Reduced natural killer cell count, Adrenal insufficiency, Splenomegaly, Adrenocorticotropic hormo... |
OMIM:609981 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
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Cholestasis, Hepatomegaly, Jaundice, Splenomegaly |
OMIM:620010 |
Familial Calcium Pyrophosphate Deposition |
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Chondrocalcinosis, Joint dislocation, Limitation of joint mobility, Joint swelling, Arthritis, Os... |
ORPHA:1416 |
Pfapa Syndrome |
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Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:42642 |
Autoinflammatory Disease, Systemic, X-Linked |
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Decreased circulating IgG level, Hepatosplenomegaly, Complete or near-complete absence of specifi... |
OMIM:301081 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
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Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... |
ORPHA:766 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
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Hepatosplenomegaly, Erythroid hyperplasia, Type II diabetes mellitus, Splenomegaly, Anisocytosis,... |
OMIM:616860 |
Immunodeficiency 114, Folate-Responsive |
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Decreased circulating IgG level, Increased circulating IgE level, Lymphopenia, Splenomegaly, Mega... |
OMIM:620603 |
Autoimmune Lymphoproliferative Syndrome |
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Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive... |
ORPHA:3261 |
C1Q Deficiency 2 |
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Discoid lupus rash, Recurrent otitis media, Malar rash, Extractable nuclear antigen positivity, C... |
OMIM:620321 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
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Lymphopenia, T lymphocytopenia |
OMIM:618309 |
Fish-Eye Disease |
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Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:79292 |
Hemochromatosis, Type 2B |
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Hepatic fibrosis, Hypogonadism, Splenomegaly, Hepatomegaly, Cirrhosis, Anemia |
OMIM:613313 |
Sézary Syndrome |
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Abnormal lymphocyte morphology, Splenomegaly, Abnormal immunoglobulin level, Lymphadenopathy, Hep... |
ORPHA:3162 |
Immunodeficiency 67 |
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Abnormal T cell count, Transient neutropenia, Abnormal B cell count, Septic arthritis, Abnormal n... |
OMIM:607676 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
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Decreased circulating IgG level, Type I diabetes mellitus, Decreased circulating IgA level, Splen... |
ORPHA:436159 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
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Adrenal cortical sclerosis, Severe B lymphocytopenia, Increased circulating IgE level, Lymphopeni... |
OMIM:102700 |
Congenital Bile Acid Synthesis Defect Type 1 |
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Neonatal cholestatic liver disease, Splenomegaly, Biliary tract abnormality, Cirrhosis, Hepatomeg... |
ORPHA:79301 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
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Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... |
OMIM:314050 |
Agammaglobulinemia, X-Linked |
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Decreased circulating IgG level, Hepatocellular carcinoma, Decreased circulating IgA level, Lymph... |
OMIM:300755 |
Griscelli Syndrome |
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Bone marrow hypocellularity, Hepatitis, Ascites, Leukopenia, Splenomegaly, Lymphadenopathy, Throm... |
ORPHA:381 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
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Acute pancreatitis, Recurrent tonsillitis, Lymphadenitis, Granuloma, Lymphopenia, Hepatosplenomeg... |
OMIM:618935 |
Dehydrated Hereditary Stomatocytosis 2 |
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Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... |
OMIM:616689 |
Glut1 Deficiency Syndrome 2 |
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Hemolytic anemia, Splenomegaly, Reticulocytosis |
OMIM:612126 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
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Normocytic anemia, Cholelithiasis, Splenomegaly, Reticulocytosis, Cholecystitis, Nonspherocytic h... |
OMIM:235700 |
Cryohydrocytosis |
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Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis |
OMIM:185020 |
X-Linked Sideroblastic Anemia |
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Anemia, Splenomegaly |
ORPHA:75563 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
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Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No... |
OMIM:613470 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
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Type I diabetes mellitus, Hepatitis, Increased circulating IgE level, Decreased FOXP3-expressing ... |
OMIM:304790 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
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Recurrent pneumonia, Eczematoid dermatitis, Hypersegmentation of neutrophil nuclei, Lymphopenia, ... |
OMIM:617780 |
Combined Immunodeficiency Due To Dock8 Deficiency |
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Pneumonia, Atopic dermatitis, Recurrent sinusitis, B lymphocytopenia, Chronic otitis media, T lym... |
ORPHA:217390 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
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Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Splenomegaly, Jaundice |
OMIM:619658 |
Diffuse Cutaneous Mastocytosis |
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Abnormality of the spleen, Abnormality of the liver, Lymphocytosis, Lymphadenopathy, Hepatomegaly... |
ORPHA:79456 |
Overhydrated Hereditary Stomatocytosis |
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Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... |
ORPHA:3203 |
Thrombocytopenia, Anemia, And Myelofibrosis |
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Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis |
OMIM:617441 |
Amegakaryocytic Thrombocytopenia, Congenital, 2 |
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Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:620481 |
Immunodeficiency 25 |
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Recurrent pneumonia, Autoimmune hemolytic anemia, Eosinophilia, Anti-smooth muscle antibody posit... |
OMIM:610163 |
Isolated Agammaglobulinemia |
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Pneumonia, Abnormal lymphocyte morphology, Autoimmunity, Otitis media, Skin rash, Inflammatory ab... |
ORPHA:229717 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
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Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia, Hydrocele... |
OMIM:616738 |
Cold Agglutinin Disease |
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Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy |
ORPHA:56425 |
Primary Myelofibrosis |
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Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... |
ORPHA:824 |
Spherocytosis, Type 4 |
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Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia |
OMIM:612653 |
Neutropenia, Severe Congenital, 10, Autosomal Recessive |
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Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia |
OMIM:620534 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
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Pancytopenia, Splenomegaly |
OMIM:614979 |
Cholestasis-Lymphedema Syndrome |
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Neonatal cholestatic liver disease, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice |
OMIM:214900 |
Oligoarticular Juvenile Idiopathic Arthritis |
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Rheumatoid arthritis, Abnormality of the ankle, Autoimmunity, Joint hypermobility, Knee osteoarth... |
ORPHA:85410 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
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Hyperinsulinemia, Spherocytosis, Splenomegaly |
ORPHA:66518 |
Gamma-Heavy Chain Disease |
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Rheumatoid arthritis, Abnormal lymphocyte morphology, Autoimmunity, Splenomegaly, Autoimmune hemo... |
ORPHA:100026 |
Systemic-Onset Juvenile Idiopathic Arthritis |
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Autoimmunity, Skin rash, Joint swelling, Splenomegaly, Arthritis, Juvenile rheumatoid arthritis, ... |
ORPHA:85414 |
Sjogren Syndrome |
|
Tubulointerstitial nephritis, Rheumatoid arthritis, Autoimmunity, Keratoconjunctivitis sicca |
OMIM:270150 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
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Decreased circulating IgG level, Type I diabetes mellitus, Decreased circulating IgA level, Pancy... |
OMIM:614700 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
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B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
Alpha-1-Antitrypsin Deficiency |
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Cirrhosis, Splenomegaly, Hepatocellular carcinoma |
OMIM:613490 |
Classic Hodgkin Lymphoma |
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Hepatomegaly, Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly |
ORPHA:391 |
Bile Acid Synthesis Defect, Congenital, 5 |
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Hepatic fibrosis, Portal fibrosis, Portal hypertension, Splenomegaly, Iron deficiency anemia, Hep... |
OMIM:616278 |
Acquired Partial Lipodystrophy |
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Lymphocytosis, Hepatic steatosis |
ORPHA:79087 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
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Recurrent aphthous stomatitis, Autoimmunity, Skin rash, Otitis media, Hashimoto thyroiditis, Juve... |
ORPHA:275 |
Osteopetrosis, Autosomal Dominant 3 |
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Anemia, Hepatomegaly, Hyperparathyroidism, Splenomegaly |
OMIM:618107 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
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Lymphopenia, Leukocytosis, Autoimmune hemolytic anemia, Interface hepatitis, Agammaglobulinemia, ... |
OMIM:243150 |
Spherocytosis, Type 2 |
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Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia |
OMIM:616649 |
Tafro Syndrome |
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Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocy... |
ORPHA:457077 |
Aggressive Systemic Mastocytosis |
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Ascites, Hepatosplenomegaly, Increased proportion of CD25+ mast cells, Hypersplenism, Pancytopeni... |
ORPHA:98850 |
Bone Marrow Failure Syndrome 6 |
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Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp... |
OMIM:618849 |
Spherocytosis, Type 1 |
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Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia |
OMIM:182900 |
Osteopetrosis, Autosomal Recessive 8 |
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Anemia, Hepatomegaly, Splenomegaly, Thrombocytopenia |
OMIM:615085 |
Myelofibrosis |
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Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di... |
OMIM:254450 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
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Hypogonadism, Sideroblastic anemia, Splenomegaly, Hepatomegaly, Hypochromia, Poikilocytosis, Anem... |
OMIM:615234 |
Omenn Syndrome |
|
Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Hepatomegaly, Eosinophilia, Hypothyro... |
ORPHA:39041 |
Erythrocytosis, Familial, 1 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... |
OMIM:133100 |
Cholesteryl Ester Storage Disease |
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Adrenal calcification, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice |
ORPHA:75234 |
Hyper-Igd Syndrome |
|
Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased circulating IgA level, L... |
OMIM:260920 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... |
OMIM:619849 |
Amyloidosis, Hereditary Systemic 2 |
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Cholestasis, Hepatomegaly, Splenomegaly |
OMIM:105200 |
Glycogen Storage Disease Ixb |
|
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content |
OMIM:261750 |
Systemic Lupus Erythematosus, Susceptibility To, 6 |
|
Systemic lupus erythematosus, Malar rash, Antinuclear antibody positivity, Arthritis, Pericarditis |
OMIM:609939 |
Nephronophthisis 19 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega... |
OMIM:616217 |
Harderoporphyria |
|
Splenomegaly, Reticulocytosis, Hepatomegaly, Prolonged neonatal jaundice, Hemolytic anemia |
OMIM:618892 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Abnormal CD4:CD8 ratio, Chronic mucocutaneous candidiasis, Pancytopenia, Autoimmunity, Decreased ... |
ORPHA:572 |
Farber Lipogranulomatosis |
|
Osteolysis involving bones of the feet, Splenomegaly, Joint swelling, Lipogranulomatosis, Osteoly... |
OMIM:228000 |
Wolman Disease |
|
Adrenal calcification, Ascites, Adrenal insufficiency, Splenomegaly, Hepatomegaly, Anemia, Bone-m... |
ORPHA:75233 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Hepatomegaly, Diabetes mellitus |
OMIM:612526 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased circulating IgG level, Agammaglobulinemia, Absent circulating B cells, Decreased propor... |
OMIM:619705 |
Portal Hypertension, Noncirrhotic, 2 |
|
Nodular regenerative hyperplasia of liver, Ascites, Portal hypertension, Splenomegaly, Thrombocyt... |
OMIM:619463 |
Ziegler-Huang Syndrome |
|
Bone marrow hypocellularity, Persistence of hemoglobin F, Hypogonadism, Cryptorchidism, Macrocyti... |
OMIM:620501 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Reticulocytosis, S... |
OMIM:266200 |
Hemochromatosis, Type 3 |
|
Anemia, Lymphopenia, Arthritis, Neutropenia |
OMIM:604250 |
Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Lymphadenopathy, Thrombocytopenia, Monocytosi... |
OMIM:619644 |
Adult Idiopathic Neutropenia |
|
Lymphopenia, Neutropenia, Monocytosis, Monocytopenia, Increased circulating IgM level |
ORPHA:2688 |
Interstitial Granulomatous Dermatitis With Arthritis |
|
Inflammatory abnormality of the skin, Rheumatoid arthritis, Rheumatoid factor positive |
ORPHA:79099 |
Secondary Non-Traumatic Avascular Necrosis |
|
Rheumatoid arthritis, Limitation of joint mobility, Autoimmunity, Systemic lupus erythematosus |
ORPHA:399180 |
Beta-Thalassemia |
|
Cholelithiasis, Hepatitis, Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Hy... |
ORPHA:848 |
Aregenerative Anemia |
|
Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, A... |
ORPHA:101096 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... |
ORPHA:98849 |
Elliptocytosis 1 |
|
Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis |
OMIM:611804 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, He... |
OMIM:617388 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly |
ORPHA:664 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Hip osteoarthritis, Ankle swelling, Hepatosplenomegaly, Joint stiffness, Abnormal hip joint morph... |
ORPHA:85408 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... |
OMIM:300908 |
Cholestasis-Lymphedema Syndrome |
|
Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,... |
ORPHA:1414 |
Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Exocrine pancreatic insufficiency, Abnormal immunoglobulin level, Neutropenia |
OMIM:618752 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia |
OMIM:617243 |
Cranio-Osteoarthropathy |
|
Eczematoid dermatitis, Joint stiffness, Joint swelling, Osteoarthritis, Arthritis, Abnormality of... |
ORPHA:1525 |
Pgm3-Cdg |
|
Allergic rhinitis, Abnormal CD4:CD8 ratio, Lymphopenia, Esophagitis, Decreased proportion of CD4-... |
ORPHA:443811 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Lymphopenia, Splenomegaly, Increased circulating antibody level, Hepatomegaly, Lymphadenopathy, T... |
OMIM:617591 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Anemia, Hemophagocytosis, Pancytopenia, Splenomegaly |
OMIM:618398 |
Osteopetrosis, Autosomal Recessive 4 |
|
Splenomegaly, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Anemia |
OMIM:611490 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... |
OMIM:608203 |
Immunodeficiency 113 With Autoimmunity And Autoinflammation |
|
Hepatitis, Increased circulating IgE level, Leukocytosis, Splenomegaly, Autoimmune hemolytic anem... |
OMIM:620565 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Bone marrow hypocellularity, Impaired platelet aggregation, Mac... |
OMIM:300835 |
Felty Syndrome |
|
Recurrent pneumonia, Limitation of joint mobility, Abnormal joint morphology, Osteolysis, Abnorma... |
ORPHA:47612 |
Hb Bart'S Hydrops Fetalis |
|
Anemia, Hepatomegaly, Splenomegaly, Abnormal hemoglobin |
ORPHA:163596 |
Proteus Syndrome |
|
Thymus hyperplasia, Diabetes insipidus, Neoplasm of the thymus, Splenomegaly, Enlarged polycystic... |
ORPHA:744 |
Macrophage Activation Syndrome |
|
Hemophagocytosis, Hepatitis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Neutropenia, Thrombocyt... |
ORPHA:158061 |
Alpha-Thalassemia |
|
Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome... |
ORPHA:846 |
Ataxia-Telangiectasia |
|
Decreased circulating IgG level, Defective B cell differentiation, Lymphopenia, Decreased circula... |
OMIM:208900 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Anemia, Hepatomegaly, Splenomegaly |
OMIM:620296 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Ascites, Splenomegaly, Cirrhosis,... |
OMIM:602347 |
Selective Igm Deficiency |
|
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Systemic lupus erythematosus, Decreased p... |
ORPHA:331235 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hepatomegaly, P... |
OMIM:185000 |
Hepatoportal Sclerosis |
|
Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of the hepatic vascul... |
ORPHA:64743 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy |
OMIM:619183 |
Immunodeficiency 49 |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Psoriasiform dermatitis, Wormi... |
OMIM:617237 |
Cinca Syndrome |
|
Patellar overgrowth, Hepatosplenomegaly, Leukocytosis, Skin rash, Eosinophilia, Arthritis, Anemia... |
OMIM:607115 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Splenomegaly, Inc... |
OMIM:194380 |
Beta-Thalassemia Intermedia |
|
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Anemia of inadequa... |
ORPHA:231222 |
Psoriasis 1, Susceptibility To |
|
Psoriasiform dermatitis, Arthritis |
OMIM:177900 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Cholestatic liver disease, Hemophagocytosis, Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy,... |
ORPHA:540 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased lymphocyte proliferation in response to mitogen, Decreased proportion of naive T cells,... |
ORPHA:83471 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Hepatitis, Eosinophilia, Lymphocytosis, Lymphadenopathy, Thyroiditis |
ORPHA:139402 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate production, Hepatomegaly, J... |
OMIM:612714 |
Sickle Cell Disease |
|
Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg... |
OMIM:603903 |
Immunodeficiency 17 |
|
Abnormal B cell morphology, Eczematoid dermatitis, Decreased proportion of CD8-positive T cells, ... |
OMIM:615607 |
Adult-Onset Still Disease |
|
Bone marrow hypocellularity, Hepatitis, Leukocytosis, Splenomegaly, Hepatomegaly, Generalized lym... |
ORPHA:829 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Splenomegaly, Anemia of inadequate pr... |
OMIM:224120 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Aplasia of the thymus |
ORPHA:3004 |
Cholesteryl Ester Storage Disease |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Periportal fibrosis, Increased hepatic echogenicity,... |
OMIM:278000 |
Acute Generalized Exanthematous Pustulosis |
|
Cholestasis, Leukocytosis, Eosinophilia, Lymphadenopathy, Neutropenia, Neutrophilia |
ORPHA:293173 |
Gray Platelet Syndrome |
|
Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Splenomegaly, ... |
OMIM:139090 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Hepatocel... |
OMIM:601847 |
Rheumatoid Arthritis |
|
Rheumatoid arthritis, Polyarticular arthritis, Anti-citrullinated protein antibody positivity, Jo... |
OMIM:180300 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Rectal ab... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Rectal ab... |
OMIM:233710 |
Dehydrated Hereditary Stomatocytosis |
|
Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog... |
ORPHA:3202 |
Common Variable Immunodeficiency |
|
Lymphopenia, Abnormality of the liver, Decreased circulating antibody level, Splenomegaly, Lympha... |
ORPHA:1572 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... |
OMIM:613673 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Reduction of neutrophil motility, Neutrophilia |
OMIM:266265 |
Pyoderma Gangrenosum |
|
Inflammation of the large intestine, Rheumatoid arthritis, Myositis, Pustule, Myeloid leukemia |
ORPHA:48104 |
Psoriasis 14, Pustular |
|
Polyarticular arthritis, Psoriasiform dermatitis, Leukocytosis, Pustule, Oligoarthritis, Neutroph... |
OMIM:614204 |
Immunodeficiency 47 |
|
Accessory spleen, Normocytic anemia, Hepatic bridging fibrosis, Hepatic fibrosis, Decreased circu... |
OMIM:300972 |
Idiopathic Aplastic Anemia |
|
Bone marrow hypocellularity, Pancytopenia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Anemia |
ORPHA:88 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Rectal ab... |
OMIM:233690 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Autoimmune hemolytic anemia |
ORPHA:90037 |
Immunodeficiency 40 |
|
Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Inters... |
OMIM:616433 |
Chediak-Higashi Syndrome |
|
Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Hepatomegaly, Abnormal den... |
OMIM:214500 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Cryptorchidism, Erythroid hypoplasia, ... |
OMIM:612541 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired collagen-relate... |
OMIM:153670 |
Subcorneal Pustular Dermatosis |
|
Pustule, Rheumatoid arthritis, Autoimmunity, Systemic lupus erythematosus |
ORPHA:48377 |
Achalasia, Familial Esophageal |
|
Rheumatoid arthritis, Keratoconjunctivitis sicca |
OMIM:200400 |
Sclerosing Cholangitis, Neonatal |
|
Hepatic bridging fibrosis, Portal fibrosis, Biliary cirrhosis, Cholestasis, Ascites, Portal hyper... |
OMIM:617394 |
Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple... |
ORPHA:227990 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Hip osteoarthritis, Inflammation of the large intestine, Rheumatoid factor positive, Sacroiliac a... |
OMIM:106300 |
Autoimmune Hepatitis |
|
Viral hepatitis, Ascites, Splenomegaly, Sclerosing cholangitis, Increased circulating antibody le... |
ORPHA:2137 |
Immunodeficiency 55 |
|
Lymphopenia, Absent natural killer cells, Lymphadenopathy, Neutropenia |
OMIM:617827 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly |
OMIM:235555 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Decreased mean platelet volume, Cervical lymphadenopathy, Lymphocytosis, Lymphadenopathy, Thrombo... |
OMIM:617718 |
Overlap Myositis |
|
Rheumatoid arthritis, Systemic lupus erythematosus, Leukopenia, Subluxation of the small joints o... |
ORPHA:206572 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Pneumonia, Rheumatoid arthritis, Systemic lupus erythematosus, Recurrent otitis media, Lymphopeni... |
OMIM:607944 |
Vexas Syndrome |
|
Arteritis, Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Macrocyti... |
OMIM:301054 |
Chronic Granulomatous Disease |
|
Splenomegaly, Hepatomegaly, Abnormality of neutrophils, Mediastinal lymphadenopathy, Liver abscess |
ORPHA:379 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Eczematoid dermatitis, Hepatosplenomegaly, ... |
OMIM:606367 |
Letterer-Siwe Disease |
|
Hepatosplenomegaly, Neutropenia, Thrombocytopenia, Anemia, Jaundice |
OMIM:246400 |
Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple... |
ORPHA:227982 |
Vertical Talus, Congenital |
|
Arthritis |
OMIM:192950 |
Kikuchi-Fujimoto Disease |
|
Abnormal lymph node morphology, Cervical lymphadenopathy, Leukopenia, Enlargement of parotid glan... |
ORPHA:50918 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemia, Schistocyto... |
OMIM:616084 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8 |
|
Nodular regenerative hyperplasia of liver, Increased mean corpuscular volume, Portal hypertension... |
OMIM:620367 |
Wolcott-Rallison Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Central hypothyroidism, Exocrine pancreatic insuffi... |
ORPHA:1667 |
Thymoma |
|
Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Systemic lupus erythemato... |
ORPHA:99867 |
Hereditary Orotic Aciduria |
|
Anemia, Splenomegaly, Impaired T cell function |
ORPHA:30 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
Recurrent aphthous stomatitis, T lymphocytopenia, Abnormal natural killer cell morphology, B lymp... |
OMIM:615966 |
Meige Disease |
|
Lymph node hypoplasia, Absence of lymph node germinal center |
ORPHA:90186 |
Syndromic Diarrhea |
|
Hepatic fibrosis, Panhypogammaglobulinemia, Lymphopenia, Abnormality of the liver, Splenomegaly, ... |
ORPHA:84064 |
Myasthenia Gravis |
|
Rheumatoid arthritis, Hepatitis, Anti-acetylcholine receptor antibody positivity, Systemic lupus ... |
ORPHA:589 |
Budd-Chiari Syndrome |
|
Ascites, Portal hypertension, Splenomegaly, Cholecystitis, Peritonitis, Cirrhosis, Hepatomegaly, ... |
ORPHA:131 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Recurrent pneumonia, Absent natural killer cells, Lymphopenia, Hepatosplenomegaly, Skin rash, Acu... |
ORPHA:35078 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Hepatomegaly, Splenomegaly, Abscess, Neutrophilia |
OMIM:612852 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Pneumonia, Reduced natural killer cell count, Sinusitis, T lymphocytopenia, Bronchiectasis |
OMIM:242860 |
Melioidosis |
|
Pneumonia, Brain abscess, Cutaneous abscess, Foot osteomyelitis, Hepatitis, Parotitis, Abnormalit... |
ORPHA:31202 |
Sitosterolemia 1 |
|
Stomatocytosis, Giant platelets, Splenomegaly, Reticulocytosis, Episodic hemolytic anemia, Thromb... |
OMIM:210250 |
Granulomatous Disease, Chronic, X-Linked |
|
Granuloma, Lymphadenitis, Ascites, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granu... |
OMIM:306400 |
Multiple Myeloma |
|
Splenomegaly, Increased circulating IgA level, Lymphadenopathy, Anemia, Increased circulating IgG... |
ORPHA:29073 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatitis, Splenomegaly, Ductal bile plugs, ... |
OMIM:613812 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Decreased proportion of memory B cells, Reduced natural killer cell count, Inflammation of the la... |
OMIM:301074 |
Caroli Disease |
|
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit... |
ORPHA:53035 |
Osteopetrosis, Autosomal Recessive 7 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Splenomegaly, Hepatomegaly, Ane... |
OMIM:612301 |
Acitretin/Etretinate Embryopathy |
|
Hypoplasia of the thymus |
ORPHA:40366 |
Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Pancreatitis, Splenomegaly |
OMIM:207750 |
Hereditary Elliptocytosis |
|
Cholelithiasis, Stomatocytosis, Abnormal erythrocyte morphology, Congenital hemolytic anemia, Ret... |
ORPHA:288 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Allergic rhinitis, Pneumonia, Recurrent pneumonia, Rheumatoid arthritis, Bronchiectasis, Atopic d... |
ORPHA:183675 |
Onychotrichodysplasia And Neutropenia |
|
Lymphocytosis, Chronic neutropenia, Neutropenia |
OMIM:258360 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Cryptorchidism, Hypoplasia of the thymus, Hepatomegaly, Jaundice, Intrahepatic biliary dysgenesis |
OMIM:214110 |
Autoinflammatory Disease, Systemic, With Vasculitis |
|
Hepatic fibrosis, Parotitis, Cholestasis, Hepatosplenomegaly, Decreased circulating IgA level, Ab... |
OMIM:620376 |
Spondyloenchondrodysplasia |
|
Pneumonia, Granuloma, Hepatitis, Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Pa... |
ORPHA:1855 |
Pneumocystosis |
|
Abnormal neutrophil count, Increased circulating antibody level |
ORPHA:723 |
Rat-Bite Fever |
|
Septic arthritis, Lymphadenitis, Parotitis, Morbilliform rash, Skin rash, Pustule, Myocarditis, O... |
ORPHA:31205 |
Relapsing Fever |
|
Leukopenia, Leukocytosis, Thrombocytopenia, Neutrophilia, Anemia, Jaundice |
ORPHA:91547 |
Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia, Hemolytic anemia,... |
ORPHA:906 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole... |
OMIM:208540 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Decreased proportion of memory B cells, Chronic mucocutaneous candidiasis, Hepatosplenomegaly, Pa... |
ORPHA:79124 |
Familial Mediterranean Fever |
|
Leukocytosis, Splenomegaly, Orchitis, Peritonitis, Neutrophilia, Hepatomegaly |
OMIM:249100 |
Cryptogenic Organizing Pneumonia |
|
Leukocytosis, Neutrophilia |
ORPHA:1302 |
Lethal Congenital Contracture Syndrome 10 |
|
Cardiomegaly, Hypoplasia of the thymus |
OMIM:617022 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Peritoneal abscess, Type I diabetes mellitus, Hepatitis, Autoimmune hemolytic anemia, Hashimoto t... |
ORPHA:436252 |
Staphylococcal Necrotizing Pneumonia |
|
Leukopenia, Leukocytosis, Increased circulating procalcitonin concentration, Neutrophilia, Diabet... |
ORPHA:36238 |
Idiopathic Hypereosinophilic Syndrome |
|
Portal fibrosis, Cervical lymphadenopathy, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Sple... |
ORPHA:3260 |
Immunodeficiency 82 With Systemic Inflammation |
|
Pneumonia, Reduced natural killer cell count, Pustular rash, Hepatitis, Osteomalacia, Recurrent o... |
OMIM:619381 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Abnormal B cell morphology, Decreased response to growth hormone stimulation test, Hashimoto thyr... |
OMIM:618223 |
Hyperlipoproteinemia, Type I |
|
Jaundice, Hepatosplenomegaly, Acute pancreatitis, Splenomegaly |
OMIM:238600 |
Herpes Simplex Virus Encephalitis |
|
Leukocytosis, Neutrophilia |
ORPHA:1930 |
Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Antineutrophil antibody positivity, Rheumatoid arthritis, Systemic lupus eryth... |
ORPHA:49041 |
Blau Syndrome |
|
Uveitis, Nongranulomatous uveitis, Eczematoid dermatitis, Camptodactyly of finger, Joint swelling... |
OMIM:186580 |
Lymphoid Interstitial Pneumonia |
|
Rheumatoid arthritis, Eczematoid dermatitis, Autoimmunity, Skin rash, Keratoconjunctivitis sicca,... |
ORPHA:79128 |
Crimean-Congo Hemorrhagic Fever |
|
Parotitis, Ascites, Pancytopenia, Leukopenia, Leukocytosis, Splenomegaly, Cholecystitis, Adrenal ... |
ORPHA:99827 |
Monosomy 22 |
|
Hepatosplenomegaly, Aplasia of the thymus, Hypochromic microcytic anemia |
ORPHA:96123 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Ascites, Hypoplasia of the thymus, Adrenal hypoplasia, Right ventricular hypert... |
OMIM:613177 |
Hereditary Xanthinuria |
|
Rheumatoid arthritis, Gout, Arthropathy |
ORPHA:3467 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Osteopenia, Microcytic anemia, Multiple joint contractures, Generalized osteoporosis, T lymphocyt... |
ORPHA:2959 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Recurrent pneumonia, Decreased proportion of CD8-positive T cells, Lymphopenia, Elbow flexion con... |
ORPHA:508533 |
Digeorge Syndrome |
|
Cholelithiasis, Parathyroid hypoplasia, Impaired T cell function, Splenomegaly, Hepatic steatosis... |
OMIM:188400 |
Fraser Syndrome 2 |
|
Hypoplasia of the thymus |
OMIM:617666 |
Liver Disease, Severe Congenital |
|
Portal inflammation, Hepatic steatosis, Abnormal hepatic echogenicity, Hepatomegaly, Jaundice, In... |
OMIM:619991 |
Sweet Syndrome |
|
Leukocytosis, Chronic lymphatic leukemia, Acute myeloid leukemia, Sterile abscess, Neutrophilia, ... |
ORPHA:3243 |
Nijmegen Breakage Syndrome |
|
Recurrent pneumonia, Recurrent otitis media, Autoimmune hemolytic anemia, Sinusitis, Thrombocytop... |
OMIM:251260 |
22Q11.2 Deletion Syndrome |
|
Cholelithiasis, Impaired T cell function, Splenomegaly, Cryptorchidism, Hypoplasia of the thymus,... |
ORPHA:567 |
Treacher-Collins Syndrome |
|
Hypoplasia of the thymus, Abnormality of the adrenal glands, Thyroid hypoplasia, Cryptorchidism |
ORPHA:861 |
Eec Syndrome |
|
Decreased response to growth hormone stimulation test, Hypoplasia of the thymus, Anterior hypopit... |
ORPHA:1896 |
Vici Syndrome |
|
Chronic mucocutaneous candidiasis, Lymphopenia, Leukopenia, Decreased proportion of CD4-positive ... |
OMIM:242840 |
Autosomal Dominant Dopa-Responsive Dystonia |
|
Rheumatoid arthritis, Progressive flexion contractures |
ORPHA:98808 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Absent nipple, Congenital hypothyroidism, Aplasia of the thymus, Hypothyroidism, Hypoplastic nipp... |
OMIM:620186 |
Yellow Fever |
|
Pancreatic hyperplasia, Leukocytosis, Thrombocytopenia, Neutrophilia, Jaundice, Increased circula... |
ORPHA:99829 |
Truncus Arteriosus |
|
Cardiomegaly, Hypoplasia of the thymus, Right ventricular hypertrophy, Adrenocortical abnormality |
ORPHA:3384 |
Wiedemann-Rautenstrauch Syndrome |
|
Hypoplasia of the thymus, Cryptorchidism, Increased serum testosterone level |
OMIM:264090 |
Ramon Syndrome |
|
Juvenile rheumatoid arthritis |
OMIM:266270 |