Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections, Lymphadenopathy |
OMIM:616126 |
Fetal Cytomegalovirus Syndrome |
|
Anemia, Splenomegaly, Hepatomegaly |
ORPHA:294 |
Immunodeficiency 75 With Lymphoproliferation |
|
Persistent EBV viremia, Hepatosplenomegaly, Lymphadenopathy, Follicular hyperplasia, Decreased pr... |
OMIM:619126 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:2274 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Recurrent infections, Splenomegaly, Hepatomegaly |
OMIM:606445 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Immunodeficiency 104 |
|
Recurrent opportunistic infections, T lymphocytopenia, Chronic mucocutaneous candidiasis, Recurre... |
OMIM:608971 |
Reticuloendotheliosis, X-Linked |
|
Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly |
OMIM:312500 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Immunodeficiency 42 |
|
Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Chronic oral candidiasis, BCGosi... |
OMIM:616622 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
Immunodeficiency 84 |
|
Persistent EBV viremia, Recurrent bacterial infections, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Persistent EBV viremia, Severe varicella zoster infection, Decreased CD4:CD8 ratio, Recurrent bro... |
OMIM:300853 |
Neutrophilia, Hereditary |
|
Neutrophilia, Splenomegaly |
OMIM:162830 |
Hemoglobin H Disease |
|
Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly |
OMIM:613978 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Recurrent ear infections, T lymphocytopenia, Increased proportion of transitional B cells, Recurr... |
OMIM:615513 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Hepatitis, Recurrent otitis media, Lymphopenia, Autoimmune thrombocytopenia, Au... |
ORPHA:444463 |
Immunodeficiency 52 |
|
Persistent EBV viremia, Increased proportion of gamma-delta T cells, Coombs-positive hemolytic an... |
OMIM:617514 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Hepatomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly |
OMIM:206400 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Recurrent lower respiratory tract infections, Recurrent oral herpes, Neutropenia in presence of a... |
OMIM:619220 |
Encephalopathy Due To Prosaposin Deficiency |
|
Recurrent respiratory infections, Splenomegaly, Hepatomegaly |
ORPHA:139406 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Hepatomegaly, Recurrent candida infections, Recurrent respirator... |
OMIM:269840 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly, Microcytic anemia, Recurrent tonsillitis |
OMIM:618852 |
Immunodeficiency 32A |
|
Lymphadenitis, Lymphadenopathy, Recurrent infections, BCGitis |
OMIM:614893 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly |
OMIM:619813 |
Lymphoproliferative Syndrome 3 |
|
Reduced natural killer cell count, Severe varicella zoster infection, Hepatosplenomegaly, Lymphad... |
OMIM:618261 |
Immunodeficiency 76 |
|
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Recurrent pneumonia, Lymphadenopathy, Recurren... |
OMIM:619164 |
Trimethylaminuria |
|
Recurrent pneumonia, Anemia, Neutropenia, Splenomegaly |
OMIM:602079 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased B cell count, Herpes simplex encephalitis, Increased proportion of memory T cells, Recu... |
OMIM:618982 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Recurrent infections, Splenomegaly |
OMIM:616452 |
Immunodeficiency 16 |
|
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia |
OMIM:615593 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Hypereosinophilia, Abnormal natural killer cell count, Chronic oral candidiasis, Abnormal proport... |
OMIM:212050 |
Lymphoproliferative Syndrome 2 |
|
Persistent EBV viremia, Severe varicella zoster infection, EBV meningitis, Pancytopenia, Hepatosp... |
OMIM:615122 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Neutropenia, Leukemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopenia... |
OMIM:614470 |
Immunodeficiency, Common Variable, 2 |
|
Recurrent bronchitis, Recurrent sinusitis, Recurrent otitis media, Recurrent pneumonia, Lymphaden... |
OMIM:240500 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly |
OMIM:619175 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... |
OMIM:603902 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Anemia, Enlarged kidney, Recurrent infections, Hepatomegaly, Extramedullary hematopoi... |
OMIM:615285 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent opportunistic infections, Recurrent bacterial skin infections, Recurrent cutaneous fung... |
ORPHA:276 |
Immunodeficiency 7 |
|
Hypereosinophilia, Persistent EBV viremia, Severe varicella zoster infection, Chronic oral candid... |
OMIM:615387 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:231242 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Decreased CD4:CD8 ratio, Recurrent urinary tract infections, Recurrent otitis media, Autoimmune h... |
OMIM:618495 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent upper and lower respiratory tract infections, Recurrent bacterial infections, Lymphaden... |
OMIM:605258 |
Mast Cell Sarcoma |
|
Mastocytosis, Lymphadenopathy, Mediastinal lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:66661 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Anemia, Leukemia, Erythroid hyperplasia, Hepatomegaly, Thrombocytopenia, ... |
OMIM:133180 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Hyperbilirubinemia, Shunt, Primary |
|
Jaundice, Erythroid hyperplasia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, ... |
OMIM:237800 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
BCGitis, B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally low T cell recep... |
OMIM:602450 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Persistent EBV viremia, Increased B cell count, Recurrent urinary tract infections, Generalized l... |
OMIM:615559 |
Immunodeficiency 69 |
|
Anemia, Pancytopenia, Hepatosplenomegaly, BCGosis, Thrombocytosis, Leukocytosis, Splenomegaly |
OMIM:618963 |
Follicular Lymphoma |
|
Abnormality of the peritoneum, Lymphadenopathy, Meningitis, Mediastinal lymphadenopathy, Splenome... |
ORPHA:545 |
Hemoglobin D Disease |
|
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... |
ORPHA:90039 |
Immunodeficiency 27B |
|
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections, Generalized... |
OMIM:615978 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Recurrent bacterial infections, Recurre... |
OMIM:608184 |
Red Cell Phospholipid Defect With Hemolysis |
|
Intermittent jaundice, Splenomegaly, Reticulocytosis |
OMIM:179700 |
Immunodeficiency, Common Variable, 1 |
|
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Recurrent bronchitis, Re... |
OMIM:607594 |
Tyrosinemia Type 1 |
|
Hepatocellular carcinoma, Splenomegaly, Hepatomegaly |
ORPHA:882 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Chronic oral candidiasis, B lymphocytopenia, Recurrent pneumonia, Lymphadenopathy, Abnormal CD4:C... |
OMIM:150550 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Fetal ascites, Splenomegaly, Hepatomegaly |
OMIM:619462 |
Immunodeficiency 64 With Lymphoproliferation |
|
Decreased proportion of CD4-positive T cells, Hepatosplenomegaly, Autoimmune thrombocytopenia, In... |
OMIM:618534 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Abnormal lymph node morphology, Anemia, Hepatosplenomegaly, Recurrent bacterial infections, Leuko... |
OMIM:612840 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Anemia, Recurrent sinusitis, Hepatosplenomegaly, Lymphadenopathy, Recurrent upper respiratory tra... |
OMIM:613101 |
Pfapa Syndrome |
|
Recurrent pharyngitis, Lymphadenopathy, Hepatomegaly, Infectious encephalitis, Splenomegaly |
ORPHA:42642 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Recurrent bacterial infections, Lymphadenopathy, Recurrent upper and lower respiratory tract infe... |
OMIM:608106 |
Portal Hypertension, Noncirrhotic, 1 |
|
Portal hypertension, Splenomegaly, Hepatomegaly |
OMIM:617068 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Asplenia, Splenomegaly, Severe infection, HbS hemoglobin, Reticulocytosis, Persistence of hemoglo... |
ORPHA:251380 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Lymphadenitis, Recurrent bacterial skin infections, Recurrent Serratia marcescens infections, Rec... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Lymphadenitis, Recurrent bacterial skin infections, Recurrent Serratia marcescens infections, Rec... |
OMIM:233710 |
Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent opportunistic infections, Recurrent urinary tract infections, Neutropenia in presence o... |
OMIM:613179 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Recurrent sinopulmonary infections, Lymphop... |
OMIM:619846 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:86893 |
Immunodeficiency, Common Variable, 7 |
|
Recurrent infections, Splenomegaly, Recurrent respiratory infections, Recurrent urinary tract inf... |
OMIM:614699 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly |
ORPHA:228312 |
Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Splenomegaly, Eosinophilia, Myeloproliferative disorder |
OMIM:607685 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Abnormal lymph node morphology, Lymphadenitis, Recurrent mycobacterial infections, Recurrent oppo... |
ORPHA:911 |
Sea-Blue Histiocyte Disease |
|
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly, Cirrhosis |
OMIM:269600 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Lymphadenitis, Recurrent bacterial skin infections, Recurrent Serratia marcescens infections, Rec... |
OMIM:233690 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatic steatosis, Hepatic fibrosis, Splenomegaly, Hepatomegaly |
OMIM:614480 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Chronic oral candidiasis, B lymphocytopenia, Pneumocystis jirovecii pneumonia, Recurrent otitis m... |
OMIM:301078 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Anemia, Bone-marrow foam cells, Hepatomegaly, Thrombocytopenia, Recurrent... |
OMIM:607616 |
Splenoportal Vascular Anomalies |
|
Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly |
OMIM:271500 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal hypertension, Portal vein thrombosis, Splenomegaly, Hepatomegaly |
OMIM:610293 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Jaundice, Reticulocytosis, Cholelithiasis, Anemia of inadequate production, Splenomegaly |
OMIM:224100 |
Mu-Heavy Chain Disease |
|
Anemia, Abnormal B cell count, Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:100024 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Anemia, Jaundice, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Thrombocytopenia, Neutropenia,... |
OMIM:603552 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Decreased proportion of marginal zone B cells, Coombs-positive hemolytic anemia, Autoimmune throm... |
OMIM:619375 |
Alpha-Heavy Chain Disease |
|
Anemia, Lymphadenopathy, Hepatomegaly, Ascites, Splenomegaly |
ORPHA:100025 |
Kimura Disease |
|
Lymphadenopathy, Follicular hyperplasia, Eosinophilia |
ORPHA:482 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatitis, Pancytopenia, Hemophagocytosis, Recurrent infections, Hepatomegaly, Aplastic anemia, R... |
OMIM:300635 |
Galactose Epimerase Deficiency |
|
Jaundice, Splenomegaly, Hepatomegaly |
ORPHA:79238 |
Neonatal Severe Primary Hyperparathyroidism |
|
Splenomegaly, Hepatomegaly |
ORPHA:417 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Autoi... |
ORPHA:231154 |
Alpha-Thalassemia |
|
Anemia, Hemolytic anemia, Hypersplenism, Jaundice, Cholelithiasis, Abnormal hemoglobin, Splenomeg... |
ORPHA:846 |
Immunodeficiency 54 |
|
Reduced natural killer cell count, Lymphadenopathy, Hepatomegaly, Recurrent viral infections, Rec... |
OMIM:609981 |
Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Abnormal macrophage morphology, Pancytopenia, Abnormality of neutr... |
ORPHA:2585 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Severe Epstein Barr virus infection, Neutropenia, Fulminant hepatitis, Lymphocytosis, Recurrent p... |
OMIM:308240 |
Gaucher Disease Type 2 |
|
Recurrent respiratory infections, Splenomegaly, Hepatomegaly |
ORPHA:77260 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Recurrent fungal infections, Recurrent mycobacterial infections, Hemolytic anemia, Lymphadenopath... |
ORPHA:169090 |
Caspase 8 Deficiency |
|
Decreased CD4:CD8 ratio, Recurrent sinopulmonary infections, Lymphadenopathy, Recurrent herpes, S... |
OMIM:607271 |
Erythrocytosis, Familial, 8 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin, Splenomegaly |
OMIM:222800 |
Felty Syndrome |
|
Neutropenia, Splenomegaly |
OMIM:134750 |
Hodgkin Lymphoma |
|
Lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:98293 |
Omenn Syndrome |
|
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Recurrent bacteria... |
OMIM:603554 |
Portal Hypertension, Noncirrhotic, 2 |
|
Nodular regenerative hyperplasia of liver, Hepatocellular carcinoma, Recurrent infections, Hepato... |
OMIM:619463 |
Fish-Eye Disease |
|
Lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:79292 |
Immunodeficiency 32B |
|
Anemia, BCGitis, Monocytopenia, Neutrophilia, Recurrent infections, Eosinophilia, Hepatomegaly, I... |
OMIM:226990 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Jaundice, Splenomegaly, Cholestasis, Hepatomegaly |
OMIM:620010 |
Immunodeficiency 36 With Lymphoproliferation |
|
Persistent EBV viremia, Decreased proportion of naive CD8 T cells, Chronic lymphatic leukemia, In... |
OMIM:616005 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Jaundice, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, S... |
OMIM:612690 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia, Jaundice, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Hepatomeg... |
OMIM:615631 |
Thrombocythemia 1 |
|
Thrombocytosis, Splenomegaly |
OMIM:187950 |
Gray Platelet Syndrome |
|
Thrombocytopenia, Splenomegaly |
ORPHA:721 |
Acquired Idiopathic Sideroblastic Anemia |
|
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Granulocytopenia, Chron... |
ORPHA:75564 |
Agammaglobulinemia, X-Linked |
|
Anemia, Enteroviral dermatomyositis syndrome, T lymphocytopenia, B lymphocytopenia, Recurrent uri... |
OMIM:300755 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Cirrhosis, Anemia, Jaundice, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:616860 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Cirrhosis, Jaundice, Biliary tract abnormality, Neonatal cholestatic liver disease, Hepatomegaly,... |
ORPHA:79301 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Lymphadenitis, Hemolytic anemia, Lymphopenia, Hepatosplenomegaly, Recurrent pneumonia, Lymphadeno... |
OMIM:618935 |
Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... |
ORPHA:2133 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia |
ORPHA:231401 |
Immunodeficiency 27A |
|
Anemia, Hepatosplenomegaly, Lymphadenopathy, Thrombocytosis, Leukocytosis, Histiocytosis, Enlarge... |
OMIM:209950 |
Lymphoproliferative Syndrome 1 |
|
Persistent EBV viremia, Leukopenia, Anemia, Pancytopenia, Autoimmune thrombocytopenia, Autoimmune... |
OMIM:613011 |
Cryohydrocytosis |
|
Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis |
OMIM:185020 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hepatic fibrosis, Jaundice, Hepatic bridging fibrosis, Cholestasis, Splenomegaly |
OMIM:619658 |
Hemochromatosis, Type 2B |
|
Hepatic fibrosis, Cirrhosis, Anemia, Hepatomegaly, Splenomegaly |
OMIM:613313 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Jaundice, Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Fibro-obliterative ... |
OMIM:619849 |
Felty Syndrome |
|
Anemia, Neutropenia, Recurrent urinary tract infections, Recurrent pharyngitis, Abnormal lymphocy... |
ORPHA:47612 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Recurrent respiratory infections, Splenomegaly, Leukocytosis |
OMIM:618042 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly |
OMIM:617441 |
Cholestasis-Lymphedema Syndrome |
|
Cirrhosis, Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Splenomegaly |
OMIM:214900 |
Autoimmune Lymphoproliferative Syndrome |
|
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Coombs-positive... |
OMIM:601859 |
Thymic Aplasia |
|
Opportunistic infection, Invasive fungal infection, Severe infection, Recurrent Staphylococcus au... |
ORPHA:83471 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Anemia, Congenital hemolytic anemia, Reticulocytosis, Poikilocytosis, Abnormal erythrocyte morpho... |
ORPHA:766 |
Nephronophthisis 19 |
|
Hepatic fibrosis, Malformation of the hepatic ductal plate, Bile duct proliferation, Cholestasis,... |
OMIM:616217 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Recurrent... |
OMIM:616100 |
Indolent Systemic Mastocytosis |
|
Mastocytosis, Lymphadenopathy, Increased proportion of CD25+ mast cells, Hepatomegaly, Abnormal m... |
ORPHA:98848 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Anemia, B lymphocytopenia, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acut... |
OMIM:619824 |
Immunodeficiency 97 With Autoinflammation |
|
Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ... |
OMIM:619802 |
Granulomatous Disease, Chronic, X-Linked |
|
Lymphadenitis, Recurrent bacterial skin infections, Recurrent Serratia marcescens infections, Rec... |
OMIM:306400 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Acute leukemia, Lymphadenopathy, Abnormal neutrophil count, Bone marrow hypocellularity, Hepatome... |
ORPHA:3226 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatic fibrosis, Jaundice, Portal fibrosis, Hepatomegaly, Iron deficiency anemia, Portal hyperte... |
OMIM:616278 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Enteroviral encephalitis, Cirrhosis, Chronic oral candidiasis, Hemolytic anemia, Hepatitis, Scler... |
OMIM:308230 |
Amyloidosis, Familial Visceral |
|
Splenomegaly, Cholestasis, Hepatomegaly |
OMIM:105200 |
Sea-Blue Histiocytosis |
|
Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly |
ORPHA:158029 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Jaundice, Anisopoikilocyto... |
OMIM:616689 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Hemolytic anemia, Jaundice, Reticulocytosis, Hepatomegaly, Splenomegaly |
OMIM:185000 |
Gamma-Heavy Chain Disease |
|
Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, ... |
ORPHA:100026 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Jaundice, Reticulocytosis, Splenomegaly, Spherocytosis |
OMIM:612653 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Jaundice, Reticulocytosis, Cholecystitis, Cholelithiasis, Nonspherocytic hemol... |
OMIM:235700 |
Hepatoportal Sclerosis |
|
Nodular regenerative hyperplasia of liver, Leukopenia, Anemia, Periportal fibrosis, Hypersplenism... |
ORPHA:64743 |
Cold Agglutinin Disease |
|
Hemolytic anemia, Lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:56425 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Thrombocytopen... |
OMIM:314050 |
Cholesteryl Ester Storage Disease |
|
Jaundice, Cirrhosis, Splenomegaly, Hepatomegaly |
ORPHA:75234 |
Glycogen Storage Disease Ixb |
|
Increased hepatic glycogen content, Splenomegaly, Hepatomegaly |
OMIM:261750 |
Elliptocytosis 1 |
|
Elliptocytosis, Hemolytic anemia, Jaundice, Splenomegaly |
OMIM:611804 |
Cholestasis-Lymphedema Syndrome |
|
Cirrhosis, Jaundice, Acholic stools, Biliary tract abnormality, Neonatal cholestatic liver diseas... |
ORPHA:1414 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Jaundice, Reticulocytosis, Cholelithiasis, Splenomegaly, Spherocytosis |
OMIM:182900 |
Overhydrated Hereditary Stomatocytosis |
|
Intermittent jaundice, Stomatocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Decrea... |
ORPHA:3203 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatic steatosis, Splenomegaly, Hepatomegaly, Hepatosplenomegaly |
OMIM:612526 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Jaundice, Reticulocytosis, Splenomegaly, Acanthocytosis, Spherocytosis |
OMIM:616649 |
Griscelli Syndrome Type 2 |
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Jaundice, Pancytopenia, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Neutropenia, Splenomegaly |
ORPHA:79477 |
Chronic Myeloid Leukemia |
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Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel... |
ORPHA:521 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
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Cirrhosis, Jaundice, Portal inflammation, Portal fibrosis, Intrahepatic cholestasis, Bile duct pr... |
OMIM:602347 |
Ornithine Transcarbamylase Deficiency |
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Splenomegaly |
ORPHA:664 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
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Splenomegaly, Pancytopenia |
OMIM:614979 |
Sickle Cell Disease |
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Cholelithiasis, Hemolytic anemia, Target cells, Splenic infarction, Jaundice, Increased red cell ... |
OMIM:603903 |
Polycythemia Vera |
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Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen... |
OMIM:263300 |
Hemophagocytic Syndrome Associated With An Infection |
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Abnormal natural killer cell count, Abnormal T cell subset distribution, Anemia, Invasive fungal ... |
ORPHA:158048 |
Meige Disease |
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Absence of lymph node germinal center, Recurrent bacterial skin infections, Lymph node hypoplasia |
ORPHA:90186 |
Osteopetrosis, Autosomal Recessive 8 |
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Anemia, Thrombocytopenia, Splenomegaly, Hepatomegaly |
OMIM:615085 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
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Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... |
OMIM:603909 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
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Anemia, Poikilocytosis, Decreased mean corpuscular volume, Hepatomegaly, Elevated hepatic iron co... |
OMIM:615234 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
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Splenomegaly, Spherocytosis |
ORPHA:66518 |
Adult-Onset Still Disease |
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Hepatitis, Neutrophilia, Recurrent pharyngitis, Generalized lymphadenopathy, Meningitis, Bone mar... |
ORPHA:829 |
Chronic Granulomatous Disease |
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Liver abscess, Abnormality of neutrophils, Meningitis, Mediastinal lymphadenopathy, Hepatomegaly,... |
ORPHA:379 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
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Cholelithiasis, Spontaneous hemolytic crises, Jaundice, Cholecystitis, Impaired neutrophil bacter... |
OMIM:613470 |
Pyruvate Kinase Deficiency Of Red Cells |
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Jaundice, Erythroid hyperplasia, Reticulocytosis, Cholecystitis, Chronic hemolytic anemia, Decrea... |
OMIM:266200 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
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Jaundice, Cholestasis, Hepatomegaly, Portal hypertension, Splenomegaly |
ORPHA:59303 |
Harderoporphyria |
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Hemolytic anemia, Reticulocytosis, Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly |
OMIM:618892 |
Primary Myelofibrosis |
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Anemia, Extramedullary hematopoiesis, Pancytopenia, Hepatosplenomegaly, Poikilocytosis, Lymphaden... |
ORPHA:824 |
Beta-Thalassemia |
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Anemia, Hepatitis, Hepatomegaly, Cholelithiasis, Thrombocytopenia, Abnormal hemoglobin, Splenomeg... |
ORPHA:848 |
Sclerosing Cholangitis, Neonatal |
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Biliary cirrhosis, Cirrhosis, Sclerosing cholangitis, Jaundice, Acholic stools, Portal fibrosis, ... |
OMIM:617394 |
Osteopetrosis, Autosomal Dominant 3 |
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Anemia, Splenomegaly, Hepatomegaly |
OMIM:618107 |
Systemic-Onset Juvenile Idiopathic Arthritis |
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Lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:85414 |
Omenn Syndrome |
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Anemia, Abnormal lymphocyte morphology, Lymphadenopathy, Hepatomegaly, Eosinophilia, Leukocytosis... |
ORPHA:39041 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
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Chronic neutropenia, B lymphocytopenia, Generalized lymphadenopathy, Recurrent sinusitis, Recurre... |
OMIM:614700 |
Hb Bart'S Hydrops Fetalis |
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Anemia, Abnormal hemoglobin, Splenomegaly, Hepatomegaly |
ORPHA:163596 |
Immunodeficiency 31C |
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Coccidioidomycosis, Recurrent vulvovaginal candidiasis, Recurrent respiratory infections, Chronic... |
OMIM:614162 |
Erythrocytosis, Familial, 1 |
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Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly |
OMIM:133100 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
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Intermittent jaundice, Cirrhosis, Hepatocellular carcinoma, Intrahepatic cholestasis, Hepatomegal... |
OMIM:601847 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
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Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Jaund... |
OMIM:194380 |
Immunodeficiency 60 And Autoimmunity |
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Recurrent sinopulmonary infections, Pancytopenia, Decreased proportion of memory B cells, Decreas... |
OMIM:618394 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
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Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Hepatomegaly |
OMIM:619183 |
Myelofibrosis |
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Splenomegaly, Myeloproliferative disorder |
OMIM:254450 |
Chediak-Higashi Syndrome |
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Recurrent systemic pyogenic infections, Recurrent bacterial skin infections, Leukopenia, Anemia, ... |
OMIM:214500 |
Glycogen Storage Disease Ixc |
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Cirrhosis, Increased hepatic glycogen content, Bile duct proliferation, Hepatomegaly, Splenomegaly |
OMIM:613027 |
Hyper-Igd Syndrome |
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Lymphadenitis, Chronic oral candidiasis, Neutrophilia, Hepatosplenomegaly, Lymphadenopathy, Recur... |
OMIM:260920 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
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Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic... |
OMIM:211600 |
Bile Acid Synthesis Defect, Congenital, 2 |
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Jaundice, Splenomegaly, Hepatomegaly, Intrahepatic cholestasis |
OMIM:235555 |
Anemia, Congenital Dyserythropoietic, Type Ia |
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Hemolytic anemia, Erythroid hyperplasia, Reticulocytosis, Macrocytic dyserythropoietic anemia, Po... |
OMIM:224120 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
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Anemia, Lymphopenia, Lymphadenopathy, Recurrent infections, Hepatomegaly, Thrombocytopenia, Splen... |
OMIM:617591 |
Bile Acid Synthesis Defect, Congenital, 1 |
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Cirrhosis, Jaundice, Acholic stools, Intrahepatic cholestasis, Giant cell hepatitis, Hepatomegaly... |
OMIM:607765 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
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B lymphocytopenia, Chronic mucocutaneous candidiasis, Lymphopenia, Autoimmune thrombocytopenia, R... |
OMIM:102700 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
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Heinz bodies, Jaundice, Fava bean-induced hemolytic anemia, Reticulocytosis, Poikilocytosis, Anis... |
OMIM:300908 |
Budd-Chiari Syndrome |
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Cirrhosis, Jaundice, Cholecystitis, Hepatomegaly, Portal hypertension, Ascites, Peritonitis, Sple... |
ORPHA:131 |
Bile Acid Synthesis Defect, Congenital, 3 |
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Cirrhosis, Hepatitis, Jaundice, Acholic stools, Hepatic bridging fibrosis, Intrahepatic cholestas... |
OMIM:613812 |
Beta-Thalassemia Intermedia |
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Cholelithiasis, Cirrhosis, Abnormality of the liver, Increased HbA2 hemoglobin, Jaundice, Extrame... |
ORPHA:231222 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
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Leukopenia, Anemia, Hypoplasia of the thymus, Neutropenia, Recurrent urinary tract infections, In... |
OMIM:612541 |
Anemia, Congenital Dyserythropoietic, Type Iv |
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Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells, Erythroid hy... |
OMIM:613673 |
Dehydrated Hereditary Stomatocytosis |
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Intermittent jaundice, Increased mean corpuscular hemoglobin concentration, Congenital hemolytic ... |
ORPHA:3202 |
Acute Panmyelosis With Myelofibrosis |
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Acute myeloid leukemia, Acute myelomonocytic leukemia, Lymphocytosis, Pancytopenia, Bone marrow h... |
ORPHA:86843 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
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Anemia, Hemophagocytosis, Splenomegaly, Pancytopenia |
OMIM:618398 |
Common Variable Immunodeficiency |
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Abnormality of the liver, Hemolytic anemia, Recurrent bronchitis, Lymphopenia, Autoimmune thrombo... |
ORPHA:1572 |
Hereditary Elliptocytosis |
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Stomatocytosis, Congenital hemolytic anemia, Hemolytic anemia, Elliptocytosis, Jaundice, Reticulo... |
ORPHA:288 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
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Pancreatic cysts, Asplenia, Biliary cirrhosis, Hepatic fibrosis, Cirrhosis, Enlarged kidney, Poly... |
OMIM:208540 |
Apolipoprotein C-Ii Deficiency |
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Pancreatitis, Splenomegaly, Hepatomegaly |
OMIM:207750 |
X-Linked Lymphoproliferative Disease |
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Severe Epstein Barr virus infection, T lymphocytopenia, Hepatosplenomegaly, Increased T cell coun... |
ORPHA:2442 |
Hereditary Orotic Aciduria |
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Anemia, Recurrent respiratory infections, Splenomegaly |
ORPHA:30 |
Caroli Disease |
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Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, Periportal fibrosis, Liver abscess, Jaundice, Cho... |
ORPHA:53035 |
Hyperlipoproteinemia, Type I |
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Jaundice, Pancreatitis, Splenomegaly, Hepatosplenomegaly |
OMIM:238600 |
Hyperlipoproteinemia, Type Id |
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Recurrent pancreatitis, Pancreatitis, Splenomegaly, Hepatomegaly |
OMIM:615947 |
Ectodermal Dysplasia And Immunodeficiency 2 |
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Recurrent respiratory infections, Splenomegaly, Recurrent infection of the gastrointestinal tract... |
OMIM:612132 |