| Plasma Fibronectin Deficiency |
|
Reduced circulating fibronectin level |
OMIM:614101 |
| Autoimmune Disease |
|
Autoimmunity, Autoimmune antibody positivity |
OMIM:109100 |
| Cephalin Lipidosis |
|
Abnormality of the spleen |
OMIM:212800 |
| Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
| Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated circulating creatine kinase concentration |
ORPHA:206599 |
| Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Lymphoma, Lymphoproliferative disorder, Pancytopenia, Splenomegaly, Follicular hyperplasia, Incre... |
OMIM:614470 |
| Hypoalphalipoproteinemia, Primary, 2, Intermediate |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration |
OMIM:619836 |
| Neutrophil Immunodeficiency Syndrome |
|
Abnormality of neutrophil physiology, Leukocytosis |
ORPHA:183707 |
| Complement Component 4, Partial Deficiency Of |
|
Systemic lupus erythematosus |
OMIM:120790 |
| Immunodeficiency 86 |
|
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level |
OMIM:619549 |
| Pemphigus Vulgaris, Familial |
|
Autoimmunity, Autoimmune antibody positivity |
OMIM:169610 |
| Okt4 Epitope Deficiency |
|
Abnormal T cell morphology |
OMIM:613949 |
| Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes |
|
Recurrent bacterial infections, T lymphocytopenia, Recurrent candida infections |
OMIM:242870 |
| Hashimoto Thyroiditis |
|
Hashimoto thyroiditis, Autoimmune antibody positivity |
OMIM:140300 |
| Immunodeficiency 11A |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi... |
OMIM:615206 |
| Lupus Erythematosus Tumidus |
|
Anti-dsDNA antibody positivity, Antinuclear antibody positivity, Deep dermal perivascular inflamm... |
ORPHA:90283 |
| Immunodeficiency 24 |
|
Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell... |
OMIM:615897 |
| Monocyte Chemotactic Disorder |
|
Cutaneous anergy |
OMIM:252250 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib... |
OMIM:202700 |
| Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
| Hepatic Venoocclusive Disease With Immunodeficiency |
|
Decreased circulating IgG level, Abnormality of the liver, Absence of lymph node germinal center |
OMIM:235550 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion |
OMIM:183350 |
| Immunodeficiency 15B |
|
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Aga... |
OMIM:615592 |
| Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Bone marrow hypocellularity, Lymphoma, Leukopenia, Acute myeloid leukemia, Monocytosis, Myelodysp... |
OMIM:616871 |
| Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci |
OMIM:233670 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Reduced na... |
ORPHA:276 |
| Systemic Lupus Erythematosus 16 |
|
Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Antinuclear antibody positivity, Lu... |
OMIM:614420 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
| Specific Granule Deficiency 1 |
|
Recurrent pneumonia, Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent ne... |
OMIM:245480 |
| Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
| Tn Polyagglutination Syndrome |
|
Autoimmunity |
OMIM:300622 |
| Complement Component C1S Deficiency |
|
Hashimoto thyroiditis, Hepatitis, Systemic lupus erythematosus |
OMIM:613783 |
| Masp2 Deficiency |
|
Recurrent pneumonia, Ulcerative colitis, Systemic lupus erythematosus |
OMIM:613791 |
| Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
| Reticuloendotheliosis, X-Linked |
|
Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy |
OMIM:312500 |
| Immunodeficiency 21 |
|
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... |
OMIM:614172 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Abnormally low T cell receptor excision circle level, Panhypogammaglobulinemia, Increased circula... |
OMIM:602450 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Decreased circulating IgG level, Decreased circulating IgA level, Thrombocytosis, L... |
OMIM:619281 |
| Reticular Dysgenesis |
|
Impaired T cell function, Lack of T cell function, Lymphopenia, Leukopenia, Congenital agranulocy... |
OMIM:267500 |
| X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Neutropen... |
OMIM:615285 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased specific anti-polysaccharide antibody level, Lymphoma, Decreased CD4:CD8 ratio, Decreas... |
OMIM:300853 |
| 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 |
| Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
| Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
| C1Q Deficiency 1 |
|
Autoimmunity, Membranoproliferative glomerulonephritis, Systemic lupus erythematosus |
OMIM:613652 |
| Complement Component 8 Deficiency, Type I |
|
Systemic lupus erythematosus |
OMIM:613790 |
| Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
| C1Q Deficiency 3 |
|
Discoid lupus rash, Antinuclear antibody positivity |
OMIM:620322 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
| Immunodeficiency 15A |
|
Decreased proportion of memory B cells, Chronic mucocutaneous candidiasis, Cutaneous abscess, Acn... |
OMIM:618204 |
| Immunodeficiency, Common Variable, 5 |
|
Abnormal T cell count, Chronic decreased circulating total IgG, Abnormal B cell count |
OMIM:613495 |
| Lymphoproliferative Syndrome 3 |
|
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... |
OMIM:618261 |
| Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Nephritis, Autoimmunity, Arthritis |
OMIM:216950 |
| Neutrophilia, Hereditary |
|
Myelodysplasia, Splenomegaly, Neutrophilia |
OMIM:162830 |
| Caspase 8 Deficiency |
|
Decreased circulating IgG level, Decreased CD4:CD8 ratio, Decreased circulating IgA level, Spleno... |
OMIM:607271 |
| Adult Idiopathic Neutropenia |
|
Lymphopenia, Neutropenia, Monocytosis, Monocytopenia, Increased circulating IgM level |
ORPHA:2688 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
| Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
| Neutropenia, Severe Congenital, 10, Autosomal Recessive |
|
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia |
OMIM:620534 |
| Immunodeficiency 32B |
|
Impaired oxidative burst, Abnormal circulating IgG level, Splenomegaly, Eosinophilia, Monocytopen... |
OMIM:226990 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Decreased specific pneumococcal antibody level, Splenomegaly, Decreased circulating IgG2 level, D... |
OMIM:615513 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Impaired T cell function, Lymphoma, Ly... |
OMIM:613179 |
| Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulating IgA level, Decrea... |
OMIM:617514 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... |
OMIM:618534 |
| Diabetes Mellitus, Ketosis-Prone |
|
Autoimmunity, Beta-cell dysfunction |
OMIM:612227 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... |
OMIM:616452 |
| Immunodeficiency 18 |
|
Reduced natural killer cell count, Lymphopenia, Abnormal circulating IgG level, Abnormal B cell c... |
OMIM:615615 |
| Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Lymphoma, Decre... |
OMIM:240500 |
| Hemoglobin H Disease |
|
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia |
OMIM:613978 |
| Immunodeficiency 105 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina... |
OMIM:619924 |
| Combined Immunodeficiency, X-Linked |
|
Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-po... |
OMIM:312863 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgG level, Impaired memory B cell generation, Absence of lymph node germina... |
OMIM:606843 |
| Immunodeficiency 81 |
|
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre... |
OMIM:619374 |
| Pseudoxanthomatous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280794 |
| Congenital Pancreatic Cyst |
|
Jaundice, Pancreatitis |
ORPHA:313906 |
| Immunodeficiency 116 |
|
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent viral infections, Abs... |
OMIM:608957 |
| Immunodeficiency 19 |
|
Abnormal B cell morphology, Abnormal natural killer cell morphology, Recurrent otitis media, Recu... |
OMIM:615617 |
| Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Decrease... |
OMIM:619802 |
| 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 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Cervical l... |
OMIM:618987 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Lymphopeni... |
OMIM:618986 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho... |
OMIM:620282 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... |
OMIM:605258 |
| Candidiasis, Familial, 1 |
|
Cutaneous anergy |
OMIM:114580 |
| Immunodeficiency, Common Variable, 4 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Abnormal T cell count, Complete... |
OMIM:613494 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... |
OMIM:608106 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Decreased circulating antibody... |
OMIM:619846 |
| Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia |
OMIM:206400 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Hyperbilirubinemia, Reticulocytosis, Intermittent jaundice |
OMIM:179700 |
| Hyperbilirubinemia, Shunt, Primary |
|
Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Anemia of inadequate production, Reticul... |
OMIM:237800 |
| Lipase Deficiency, Combined |
|
Pancreatitis |
OMIM:246650 |
| Immunodeficiency 16 |
|
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly |
OMIM:615593 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Fluctuating splenomegaly, Facial papilloma, Autoimmune hemolytic anemia, Lymphadenopathy, Neutrop... |
OMIM:619220 |
| Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly |
OMIM:619813 |
| Wiskott-Aldrich Syndrome 2 |
|
Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Defective T c... |
OMIM:614493 |
| Immunodeficiency, Common Variable, 1 |
|
Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu... |
OMIM:607594 |
| Autoimmune Lymphoproliferative Syndrome |
|
Reduced delayed hypersensitivity, Chronic noninfectious lymphadenopathy, Autoimmune hemolytic ane... |
OMIM:601859 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function |
ORPHA:231393 |
| Immunodeficiency 13 |
|
Recurrent pneumonia, Recurrent otitis media, Lymphopenia, Decreased CD4:CD8 ratio, Decreased prop... |
OMIM:615518 |
| Griscelli Syndrome, Type 2 |
|
Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis |
OMIM:607624 |
| Immunodeficiency 50 |
|
Lymphopenia, Decreased circulating antibody level, Eczematoid dermatitis, Neutropenia |
OMIM:300988 |
| Agammaglobulinemia, X-Linked |
|
Decreased circulating IgG level, Hepatocellular carcinoma, Decreased circulating IgA level, Lymph... |
OMIM:300755 |
| Eosinophilopenia |
|
Allergic rhinitis, Autoimmunity |
OMIM:131430 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
| Immunodeficiency 112 |
|
Reduced natural killer cell count, Recurrent viral infections, Chronic mucocutaneous candidiasis,... |
OMIM:620449 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibod... |
OMIM:247800 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S... |
OMIM:612840 |
| Mantle Cell Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
| Immunodeficiency 104 |
|
Pneumonia, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Recurrent otitis media, Sple... |
OMIM:608971 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Pneumonia, Reduction of neutrophil motility, Periodontitis, Recurrent otitis media, Neutrophilia |
OMIM:266265 |
| Immunodeficiency, Common Variable, 7 |
|
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul... |
OMIM:614699 |
| Myelofibrosis |
|
Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di... |
OMIM:254450 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hepatitis, Systemic lupus erythematosus, Recurrent otitis media, Autoimmunity, Autoimmune hemolyt... |
ORPHA:444463 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
| Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy |
ORPHA:66661 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Splenomegaly, Hypertriglyceridemia |
OMIM:619175 |
| Alpha-Thalassemia |
|
Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome... |
ORPHA:846 |
| Immunodeficiency, Common Variable, 3 |
|
Abnormal T cell count, Chronic decreased circulating total IgG, Decreased circulating IgA level, ... |
OMIM:613493 |
| Alpha-Heavy Chain Disease |
|
Ascites, Splenomegaly, Dysgammaglobulinemia, Anemia, Lymphadenopathy, Hepatomegaly |
ORPHA:100025 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Lympho... |
OMIM:308240 |
| Immunodeficiency 75 With Lymphoproliferation |
|
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia... |
OMIM:619126 |
| Mahvash Disease |
|
Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis |
OMIM:619290 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... |
OMIM:603902 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hemophagocytosis, Reduced natural killer cell activity, Hepatosplenomegaly, Anemia, Granulocytopenia |
OMIM:608898 |
| Mu-Heavy Chain Disease |
|
Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Anemia, Lymphadenopath... |
ORPHA:100024 |
| Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No... |
OMIM:613470 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased circulating IgE level, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of mem... |
OMIM:618982 |
| Immunodeficiency 57 With Autoinflammation |
|
Inflammation of the large intestine, Reduced natural killer cell count, Partial absence of specif... |
OMIM:618108 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Abnormal proportion of... |
OMIM:212050 |
| Thrombocythemia 1 |
|
Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce... |
OMIM:187950 |
| Primary Myelofibrosis |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... |
ORPHA:824 |
| Chylous Ascites |
|
Pancreatitis |
ORPHA:1160 |
| Immunodeficiency 48 |
|
Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation... |
OMIM:269840 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absence of lymph node germinal center, Lack of T cell function, Increased circulating IgE level, ... |
ORPHA:277 |
| Kimura Disease |
|
Increased circulating IgE level, Eosinophilia, Follicular hyperplasia, Lymphadenopathy |
ORPHA:482 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Abnormal natural killer cell physiology, Lymp... |
OMIM:613101 |
| Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice |
OMIM:243300 |
| Gallbladder Disease 1 |
|
Hepatic fibrosis, Cholelithiasis, Portal inflammation, Cholestasis, Cholecystitis, Jaundice, Panc... |
OMIM:600803 |
| Erythroleukemia, Familial, Susceptibility To |
|
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... |
OMIM:133180 |
| Immunodeficiency 76 |
|
Recurrent pneumonia, Lymphopenia, Splenomegaly, B lymphocytopenia, Colitis, T lymphocytopenia |
OMIM:619164 |
| Severe Combined Immunodeficiency, X-Linked |
|
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level,... |
OMIM:300400 |
| Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl... |
ORPHA:2585 |
| Cernunnos-Xlf Deficiency |
|
Recurrent viral infections, Lymphopenia, Recurrent bacterial infections, Thrombocytopenia, B lymp... |
ORPHA:169079 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... |
OMIM:619824 |
| Alopecia Areata 1 |
|
Autoimmunity |
OMIM:104000 |
| Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Lymphadenopathy, Thrombocytopenia, Monocytosi... |
OMIM:619644 |
| Hemoglobin D Disease |
|
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... |
ORPHA:90039 |
| Lymphoproliferative Syndrome 2 |
|
Decreased lymphocyte proliferation in response to mitogen, Aplastic anemia, Hemophagocytosis, Lym... |
OMIM:615122 |
| Immunodeficiency 84 |
|
B-cell lymphoma, Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu... |
ORPHA:766 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Aplastic anemia, Lymphopenia, Myelodysplasia, Eosinophilia, Acute myeloid leukemia, Hemangioma, N... |
ORPHA:486 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Reduced delayed hy... |
OMIM:617241 |
| Indolent Systemic Mastocytosis |
|
Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega... |
ORPHA:98848 |
| Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly |
OMIM:618852 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Panhypogammaglobulinemia, Otitis media, Purulent rhinitis, Arthritis, B lymphocytopeni... |
OMIM:601457 |
| Immunodeficiency 69 |
|
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Pancytopenia,... |
OMIM:618963 |
| Complement Component 2 Deficiency |
|
Systemic lupus erythematosus |
OMIM:217000 |
| Immunodeficiency 115 With Autoinflammation |
|
Hypoalbuminemia, Decreased circulating IgG level, Elevated haptoglobin level, Abnormal circulatin... |
OMIM:620632 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Sepsis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil anti... |
ORPHA:231154 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Pancreatitis, Hepatic steatosis |
ORPHA:79084 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Reduced delayed hypersensitivity, Hepatomegaly, Chronic noninfectious lymphadenopathy, Autoimmune... |
OMIM:603909 |
| Lymphoproliferative Syndrome 1 |
|
Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion... |
OMIM:613011 |
| Immunodeficiency 113 With Autoimmunity And Autoinflammation |
|
Neutrophilia, Hepatitis, Increased circulating IgE level, Leukocytosis, Autoimmune hemolytic anem... |
OMIM:620565 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemi... |
OMIM:603552 |
| Necrobiosis Lipoidica |
|
Abnormality of neutrophil physiology, Inflammatory abnormality of the skin, Granuloma |
ORPHA:542592 |
| Immunodeficiency 68 |
|
Lymphadenitis, Recurrent skin infections, Abscess, B lymphocytopenia, Septic arthritis, Abnormal ... |
OMIM:612260 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... |
OMIM:615559 |
| Tyrosinemia Type 1 |
|
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma |
ORPHA:882 |
| Portal Hypertension, Noncirrhotic, 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:617068 |
| Athrombia, Essential |
|
Impaired platelet adhesion, Prolonged bleeding time, Impaired platelet aggregation |
OMIM:209050 |
| Immunodeficiency 27A |
|
Enlarged mesenteric lymph node, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, ... |
OMIM:209950 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hypoalbuminemia, Portal fibrosis, Increased total bilirubin, Splenomegaly, Increased serum bile a... |
OMIM:619868 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Hepatosplenomegaly, Erythroid hyperplasia, Splenome... |
OMIM:616860 |
| Benign Recurrent Intrahepatic Cholestasis |
|
Cholestatic liver disease, Cholelithiasis, Cirrhosis, Pancreatitis, Acholic stools, Jaundice, Hep... |
ORPHA:65682 |
| Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Hepatomegaly, Fetal ascites, Splenomegaly |
OMIM:619462 |
| Alpha-Fetoprotein, Hereditary Persistence Of |
|
Elevated circulating alpha-fetoprotein concentration |
OMIM:615970 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Splenomegaly, Chro... |
OMIM:616005 |
| Immunodeficiency With Hyper-Igm, Type 4 |
|
Absence of lymph node germinal center, Myelodysplasia, Autoimmune hemolytic anemia, Impaired Ig c... |
OMIM:608184 |
| Chilblain Lupus |
|
Discoid lupus rash, Inflammatory abnormality of the skin, Systemic lupus erythematosus, Malar ras... |
ORPHA:90280 |
| Schnitzler Syndrome |
|
Lymphoma, Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia, Increased circulatin... |
ORPHA:37748 |
| Sjogren Syndrome |
|
Rheumatoid arthritis, Xerostomia, Autoimmunity, Keratoconjunctivitis sicca, Tubulointerstitial ne... |
OMIM:270150 |
| Insulin Autoimmune Syndrome |
|
Autoimmunity, Autoimmune antibody positivity, Arthralgia/arthritis, Systemic lupus erythematosus |
ORPHA:411593 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased circulating IgG level, Abnormal T cell count, Decreased lymphocyte proliferation in res... |
ORPHA:331206 |
| Trimethylaminuria |
|
Anemia, Splenomegaly, Neutropenia |
OMIM:602079 |
| Subacute Cutaneous Lupus Erythematosus |
|
Discoid lupus rash, Anti-Ro/SS-A antibody positivity, Anti-dsDNA antibody positivity, Malar rash,... |
ORPHA:163525 |
| Cryohydrocytosis |
|
Pseudohyperkalemia, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia |
OMIM:185020 |
| Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
| Mucous Membrane Pemphigoid |
|
Autoimmunity |
ORPHA:46486 |
| Rosaï-Dorfman Disease |
|
Anemia, Dysgammaglobulinemia, Lymphadenopathy |
ORPHA:158014 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphoma, Splenomegaly, B-cell lymphoma, Lymphadenopathy, Hepatomegaly, Breast carcinoma |
ORPHA:86893 |
| Beta-Thalassemia Intermedia |
|
Cholelithiasis, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Er... |
ORPHA:231222 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Acute pancreatitis, Recurrent pneumonia, Granuloma, Lymphadenitis, Eczematoid dermatitis, Lymphop... |
OMIM:618935 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... |
ORPHA:75564 |
| Immunodeficiency 85 And Autoimmunity |
|
Decreased proportion of memory B cells, Reduced natural killer cell count, Decreased circulating ... |
OMIM:619510 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly... |
OMIM:618495 |
| Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Cholestasis, Hyperbilirubinemia, Splenomegaly, Increased serum bile acid concentration, Hepatomeg... |
OMIM:620010 |
| Splenoportal Vascular Anomalies |
|
Hepatic fibrosis, Ascites, Hyperammonemia, Splenomegaly, Cirrhosis, Anomalous splenoportal venous... |
OMIM:271500 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Decreased proportion of CD8-positive T... |
ORPHA:169154 |
| Hemochromatosis, Type 2B |
|
Hepatic fibrosis, Increased circulating iron concentration, Increased circulating ferritin concen... |
OMIM:613313 |
| Immunodeficiency 108 With Autoinflammation |
|
Impaired neutrophil chemotaxis, Hyposegmentation of neutrophil nuclei |
OMIM:260570 |
| Meige Disease |
|
Lymph node hypoplasia, Absence of lymph node germinal center |
ORPHA:90186 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Increased circulating IgA level, Cirrhosis, Neutropenia, Hepatomegaly, Impaired Ig class switch r... |
OMIM:308230 |
| Erythrocytosis, Familial, 8 |
|
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... |
OMIM:222800 |
| Mitochondrial Complex I Deficiency, Nuclear Type 8 |
|
Pancreatitis |
OMIM:618230 |
| Tropical Calcific Pancreatitis |
|
Pancreatic calcification, Chronic pancreatitis, Neoplasm of the pancreas |
OMIM:608189 |
| Immunodeficiency, Common Variable, 11 |
|
Increased circulating IgE level, Decreased circulating IgG level, Abnormal T cell count, Decrease... |
OMIM:615767 |
| Immunodeficiency 42 |
|
Hepatomegaly, Hypoplasia of the thymus, Splenomegaly |
OMIM:616622 |
| Activated Pi3K-Delta Syndrome |
|
Recurrent tonsillitis, Lymphoma, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hepatomegaly, ... |
ORPHA:397596 |
| Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Decreased HDL cholesterol concentration, Increased LDL cholesterol concen... |
OMIM:607616 |
| Hereditary Spherocytosis |
|
Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration... |
ORPHA:822 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice |
OMIM:224100 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Cutaneous anergy, Absent natural killer cells, Decreased lymphocyte proliferation in response to ... |
OMIM:600802 |
| Hemochromatosis, Type 5 |
|
Abnormal circulating copper concentration, Increased circulating iron concentration, Abnormal cir... |
OMIM:615517 |
| Asplenia, Isolated Congenital |
|
Howell-Jolly bodies, Asplenia, Thrombocytosis |
OMIM:271400 |
| Immunodeficiency 102 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Increased proportion of CD8-p... |
OMIM:301082 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Splenomegaly, Antinuclear antibody ... |
OMIM:619375 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 3 |
|
Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ... |
OMIM:620430 |
| Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Decreased circulating antibody level, Leukocytosis, Splenomegaly |
OMIM:618042 |
| Spherocytosis, Type 4 |
|
Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia |
OMIM:612653 |
| Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Hepatic steatosis, Splenomegaly, Hypertriglyceridemia, Hepatomegaly |
OMIM:614480 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic anemia, Erythroid ... |
OMIM:617021 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Hemophagocytosis, Colon cancer, Hepatosplenomegaly, Pancytopenia, Hodgkin lymphoma, Acute myeloid... |
ORPHA:158057 |
| Sea-Blue Histiocyte Disease |
|
Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis |
OMIM:269600 |
| Immunodeficiency, Common Variable, 6 |
|
Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat... |
OMIM:613496 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly |
OMIM:607685 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Adrenal insufficiency, Pancreatitis, Hepatic steatosis |
OMIM:619386 |
| Systemic Lupus Erythematosus, Susceptibility To, 6 |
|
Systemic lupus erythematosus, Malar rash, Antinuclear antibody positivity, Arthritis, Pericarditis |
OMIM:609939 |
| Immunodeficiency 67 |
|
Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co... |
OMIM:607676 |
| Immunodeficiency 25 |
|
Recurrent pneumonia, Increased circulating IgE level, Complete or near-complete absence of specif... |
OMIM:610163 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent viral infections, Recurrent candida infections, Recurrent sinusitis, Onychomycosis, B l... |
ORPHA:217390 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Eczematoid dermatitis,... |
OMIM:242700 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Minimal change glomerulonephritis, Autoimmunity, Colitis |
OMIM:617006 |
| Pancreatitis, Hereditary |
|
Exocrine pancreatic insufficiency, Pancreatic calcification, Pancreatitis, Pancreatic pseudocyst |
OMIM:167800 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Pancreatitis |
OMIM:620137 |
| Low Phospholipid-Associated Cholelithiasis |
|
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Cholecystitis, Sclerosing cholangiti... |
ORPHA:69663 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Pan... |
OMIM:603471 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia, M... |
ORPHA:231401 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia, Anemia |
OMIM:259710 |
| Mastocytosis, Cutaneous |
|
Cutaneous mastocytosis |
OMIM:154800 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatic fibrosis, Portal fibrosis, Increased total iron binding capacity, Hyperbilirubinemia, Por... |
OMIM:616278 |
| Febrile Infection-Related Epilepsy Syndrome |
|
Autoimmunity, Sinusitis |
ORPHA:163703 |
| Encephalopathy Due To Prosaposin Deficiency |
|
Hepatomegaly, Splenomegaly |
ORPHA:139406 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Aplastic anemia, Hemophagocytosis, Hepatitis, Pancytopenia, Splenomegaly, Hepatomegaly, Decreased... |
OMIM:300635 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Pancreatitis, Hepatic steatosis |
OMIM:618805 |
| Dominant Beta-Thalassemia |
|
Hepatic fibrosis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F... |
ORPHA:231226 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... |
OMIM:616689 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Cholestatic liver disease, Hepatosplenomegaly, Increased LDL cholesterol concentration, Splenomeg... |
OMIM:616828 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Cholecystit... |
OMIM:235700 |
| Immunoglobulin A Deficiency 2 |
|
Autoimmunity |
OMIM:609529 |
| Sézary Syndrome |
|
Neoplasm of the skin, Lymphoma, Abnormal lymphocyte morphology, Splenomegaly, Abnormal immunoglob... |
ORPHA:3162 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P... |
OMIM:619767 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Bone marrow hypocellularity, Decreased circulating IgG level, Hemophagocytosis, Agranulocytosis, ... |
OMIM:301078 |
| Spherocytosis, Type 5 |
|
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... |
OMIM:612690 |
| Subcorneal Pustular Dermatosis |
|
Rheumatoid arthritis, Systemic lupus erythematosus, Autoimmunity, Pustule, Hypothyroidism, Hypert... |
ORPHA:48377 |
| Spherocytosis, Type 2 |
|
Hyperbilirubinemia, Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol... |
OMIM:616649 |
| Pemphigus Erythematosus |
|
Anti-acetylcholine receptor antibody positivity, Systemic lupus erythematosus, Autoimmunity, Mala... |
ORPHA:79480 |
| Microscopic Polyangiitis |
|
Uveitis, Autoimmunity, Episcleritis, Skin rash, Increased inflammatory response, Peritonitis, Pan... |
ORPHA:727 |
| Immunodeficiency 10 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Splenomegaly, Autoimmune hemoly... |
OMIM:612783 |
| Inclusion Body Myositis |
|
Autoimmunity |
ORPHA:611 |
| Systemic Lupus Erythematosus |
|
Nephritis, Systemic lupus erythematosus, Malar rash, Antinuclear antibody positivity, Antiphospho... |
OMIM:152700 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Increased circulating ferritin concentration, Sideroblastic anemia, Splenomegaly, Hepatomegaly, H... |
OMIM:615234 |
| Bullous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis, Erythroderma |
ORPHA:280785 |
| Spherocytosis, Type 1 |
|
Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol... |
OMIM:182900 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Splenomegaly, Auto... |
OMIM:616100 |
| Beta-Thalassemia Major |
|
Hepatic fibrosis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F... |
ORPHA:231214 |
| Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Lymphopenia, T lymphocytopenia |
OMIM:618309 |
| Linear Iga Dermatosis |
|
Inflammation of the large intestine, Autoimmunity |
ORPHA:46488 |
| Immunodeficiency 60 And Autoimmunity |
|
Decreased circulating IgG level, Decreased proportion of memory B cells, Pancytopenia, Decreased ... |
OMIM:618394 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Abnormality of neuronal migration, Hepatomegaly, Splenomegaly |
ORPHA:2204 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp... |
OMIM:233710 |
| Apolipoprotein C-Ii Deficiency |
|
Increased circulating chylomicron concentration, Splenomegaly, Decreased circulating apolipoprote... |
OMIM:207750 |
| Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... |
ORPHA:521 |
| Leishmaniasis |
|
Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Increased circulating ant... |
ORPHA:507 |
| Follicular Lymphoma |
|
Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology, Lymphadenopathy |
ORPHA:545 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Decreased circulating IgG level, Lymphopenia, Leukopenia, Splenomegaly, Hepatomegaly, Decreased c... |
OMIM:620210 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Reticulocytosis, S... |
OMIM:266200 |
| Gray Platelet Syndrome |
|
Myelodysplasia, Splenomegaly, Thrombocytopenia |
ORPHA:721 |
| Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Splenomegaly, Neonatal cholestatic liver disease, Cirrhosis, Hepatomegaly, Jaundi... |
OMIM:214900 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Decreased lymphocyte proliferation in response to mitogen, Abnormal CD4:CD8 ratio, Lack of T cell... |
ORPHA:572 |
| Immunodeficiency 70 |
|
Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, Recurrent s... |
OMIM:618969 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Erythroid hypoplasia, Hypoplasia of th... |
OMIM:612541 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp... |
OMIM:233690 |
| Immunoglobulin A Deficiency 1 |
|
Autoimmunity |
OMIM:137100 |
| Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... |
ORPHA:2133 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circulating gamma-aminobutyric acid concent... |
OMIM:619658 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... |
ORPHA:251380 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Giant cell hepatitis, Extramedullary hematopoiesis, Cholestasis, Hepatic steatosis, Prolonged neo... |
ORPHA:79303 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Pancreatitis, Splenomegaly |
ORPHA:79312 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Pancreatitis |
ORPHA:289916 |
| Fish-Eye Disease |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:79292 |
| Alpha-1-Antitrypsin Deficiency |
|
Cirrhosis, Reduced circulating alpha-1-antitrypsin concentration, Splenomegaly, Hepatocellular ca... |
OMIM:613490 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Hepatomegaly, Acute pancreatitis |
OMIM:608600 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis |
OMIM:617441 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Lymphadenopathy, Neutropenia, B lymphocytopenia, I... |
OMIM:150550 |
| Harderoporphyria |
|
Neonatal hyperbilirubinemia, Increased circulating ferritin concentration, Splenomegaly, Reticulo... |
OMIM:618892 |
| Bullous Pemphigoid |
|
Eczematoid dermatitis, Anti-BP180 antibody positivity, Autoimmunity, Psoriasiform dermatitis, Ant... |
ORPHA:703 |
| Hyperparathyroidism 2 With Jaw Tumors |
|
Pancreatic adenocarcinoma, Hyperparathyroidism, Recurrent pancreatitis |
OMIM:145001 |
| Glut1 Deficiency Syndrome 2 |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis, Reduced haptoglobin level |
OMIM:612126 |
| Chediak-Higashi Syndrome |
|
Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Hepatomegaly, Abnormal den... |
OMIM:214500 |
| Complement Component 4A Deficiency |
|
Glomerulonephritis, Systemic lupus erythematosus |
OMIM:614380 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... |
OMIM:615631 |
| Aggressive Systemic Mastocytosis |
|
Ascites, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of C... |
ORPHA:98850 |
| Hereditary Chronic Pancreatitis |
|
Pancreatic calcification, Jaundice, Recurrent pancreatitis |
ORPHA:676 |
| Classic Hodgkin Lymphoma |
|
Bone marrow hypocellularity, Lymphoma, Neoplasm, Splenomegaly, Lymphadenopathy, Hepatomegaly |
ORPHA:391 |
| Rat-Bite Fever |
|
Lymphadenitis, Parotitis, Morbilliform rash, Skin rash, Pustule, Myocarditis, Oligoarthritis, Pan... |
ORPHA:31205 |
| Immunodeficiency 96 |
|
Decreased circulating IgG level, Increased mean corpuscular volume, Increased proportion of gamma... |
OMIM:619774 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Splenomegaly, Hyper... |
OMIM:618398 |
| Duodenal Ulcer, Hyperpepsinogenemic I |
|
Hyperpepsinogenemia I |
OMIM:126850 |
| Focal Facial Dermal Dysplasia Type Iv |
|
Hemangioma, Abnormal mast cell morphology |
ORPHA:398189 |
| Chédiak-Higashi Syndrome |
|
Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell morphology, ... |
ORPHA:167 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Absen... |
ORPHA:35078 |
| Cach Syndrome |
|
Optic neuritis, Hepatosplenomegaly, Pancreatitis |
ORPHA:135 |
| Osteopetrosis, Autosomal Recessive 3 |
|
Anemia, Hepatosplenomegaly, Extramedullary hematopoiesis |
OMIM:259730 |
| X-Linked Sideroblastic Anemia |
|
Anemia, Abnormality of iron homeostasis, Splenomegaly |
ORPHA:75563 |
| Immunodeficiency 114, Folate-Responsive |
|
Decreased circulating IgG level, Increased circulating IgE level, Lymphopenia, Splenomegaly, Mega... |
OMIM:620603 |
| Bronchiolitis Obliterans |
|
Pneumonia, Autoimmunity, Bronchiectasis |
ORPHA:1303 |
| Galactose Epimerase Deficiency |
|
Hepatomegaly, Jaundice, Splenomegaly |
ORPHA:79238 |
| Hyperlipoproteinemia, Type Id |
|
Splenomegaly, Recurrent pancreatitis, Pancreatitis, Hepatomegaly, Colitis |
OMIM:615947 |
| Neonatal Severe Primary Hyperparathyroidism |
|
Hepatomegaly, Splenomegaly |
ORPHA:417 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Pancreatitis |
ORPHA:27 |
| Autoimmune Lymphoproliferative Syndrome |
|
Neoplasm of the skin, Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased prop... |
ORPHA:3261 |
| Secondary Non-Traumatic Avascular Necrosis |
|
Rheumatoid arthritis, Autoimmunity, Systemic lupus erythematosus |
ORPHA:399180 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatosplenomegaly, Hypocalcemia, Splenomegaly, Hepatic steatosis, Hypercholesterolemia, Hypertri... |
OMIM:612526 |
| Systemic-Onset Juvenile Idiopathic Arthritis |
|
Autoimmunity, Skin rash, Splenomegaly, Hepatomegaly, Arthritis, Juvenile rheumatoid arthritis, Pe... |
ORPHA:85414 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... |
OMIM:300908 |
| Elliptocytosis 1 |
|
Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis |
OMIM:611804 |
| Pgm3-Cdg |
|
Allergic rhinitis, Abnormal CD4:CD8 ratio, Increased circulating IgE level, Lymphopenia, Esophagi... |
ORPHA:443811 |
| Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic calcification, Jaundice, A... |
ORPHA:103918 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat... |
OMIM:611926 |
| Wolman Disease |
|
Hepatomegaly, Splenomegaly |
OMIM:620151 |
| Ornithine Transcarbamylase Deficiency |
|
Hyperammonemia, Splenomegaly |
ORPHA:664 |
| Griscelli Syndrome |
|
Bone marrow hypocellularity, Hepatitis, Ascites, Leukopenia, Splenomegaly, Lymphadenopathy, Throm... |
ORPHA:381 |
| Galactosemia Iii |
|
Hepatomegaly, Jaundice, Splenomegaly |
OMIM:230350 |
| Dehydrated Hereditary Stomatocytosis |
|
Neonatal hyperbilirubinemia, Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Inc... |
ORPHA:3202 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Pancreatitis, Hepatic steatosis |
ORPHA:435651 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Increased circula... |
OMIM:194380 |
| Glycogen Storage Disease Ixa1 |
|
Splenomegaly, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegaly |
OMIM:306000 |
| Interstitial Granulomatous Dermatitis With Arthritis |
|
Inflammatory abnormality of the skin, Rheumatoid arthritis, Rheumatoid factor positive |
ORPHA:79099 |
| Legionnaires Disease |
|
Hepatitis, Splenomegaly, Infectious encephalitis, Pancreatitis, Myocarditis, Jaundice, Endocardit... |
ORPHA:549 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo... |
ORPHA:3226 |
| Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... |
OMIM:619849 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Decreased circulating IgG level, Lymphoma, Decreased circulating IgA level, Decreased circulating... |
ORPHA:436159 |
| Cholesteryl Ester Storage Disease |
|
Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegaly, Jaundice |
ORPHA:75234 |
| Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hyperparathyroidism, Pancreatitis |
OMIM:145980 |
| Overhydrated Hereditary Stomatocytosis |
|
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... |
ORPHA:3203 |
| Granulomatous Disease, Chronic, X-Linked |
|
Discoid lupus rash, Recurrent pneumonia, Granuloma, Lymphadenitis, Eczematoid dermatitis, Osteomy... |
OMIM:306400 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Hepat... |
OMIM:259720 |
| Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Pancreatitis |
ORPHA:70578 |
| Griscelli Syndrome Type 2 |
|
Hemophagocytosis, Pancytopenia, Hyperlipidemia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepat... |
ORPHA:79477 |
| Propionic Acidemia |
|
Hepatomegaly, Pancreatitis, Eczematoid dermatitis |
OMIM:606054 |
| Autoinflammation With Infantile Enterocolitis |
|
Reduced natural killer cell count, Pancytopenia, Splenomegaly, Anemia, Thrombocytopenia, Reduced ... |
OMIM:616050 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Neonatal cholestatic liver disease, Splenomegaly, Biliary tract abnormality, Cirrhosis, Hepatomeg... |
ORPHA:79301 |
| Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Reticulocyto... |
OMIM:185000 |
| Pfapa Syndrome |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:42642 |
| Nephronophthisis 19 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega... |
OMIM:616217 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Lymphoma, Chronic myelomonocytic leukemia, Myelodysplasia, Leukocytosis, Splen... |
ORPHA:98849 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... |
OMIM:314050 |
| Acquired Ichthyosis |
|
Autoimmunity, Recurrent skin infections |
ORPHA:454 |
| Systemic Capillary Leak Syndrome |
|
Myocarditis, Pancreatitis, Pericarditis |
ORPHA:188 |
| Leukocyte Adhesion Deficiency |
|
Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome... |
ORPHA:2968 |
| Sea-Blue Histiocytosis |
|
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy |
ORPHA:158029 |
| Immunodeficiency 17 |
|
Abnormal B cell morphology, Eczematoid dermatitis, Decreased proportion of CD8-positive T cells, ... |
OMIM:615607 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Splenomegaly, Pancreatitis, Hepatic steatosis |
ORPHA:2348 |
| Macrophage Activation Syndrome |
|
Hypoalbuminemia, Hemophagocytosis, Hepatitis, Increased circulating ferritin concentration, Splen... |
ORPHA:158061 |
| Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Hypothyroidism, Iridocyclitis, Pancreatitis |
ORPHA:412057 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Splenomegaly, Hepatic steatosis, Cirrhosis, Pancreatitis, Hepatomegaly |
ORPHA:79083 |
| Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... |
OMIM:263300 |
| Microsporidiosis |
|
Pneumonia, Nephritis, Lymphadenitis, Hepatitis, Keratitis, Abnormality of the spleen, Osteomyelit... |
ORPHA:2552 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Decreased circulating IgG level, Lymphoma, Pancytopenia, Decreased circulating IgA level, Splenom... |
OMIM:614700 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... |
OMIM:613673 |
| Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Antineutrophil antibody positivity, Hepatitis, Hepatosplenomegaly, Autoimmunity, Hypersplenism, P... |
ORPHA:228426 |
| Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Pancreatitis, Primary hyperparathyroidism |
OMIM:145981 |
| Acute Panmyelosis With Myelofibrosis |
|
Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye... |
ORPHA:86843 |
| Pauci-Immune Glomerulonephritis |
|
Arteritis, Cytoplasmic antineutrophil antibody positivity, Scleritis, Antinuclear antibody positi... |
ORPHA:93126 |
| Primary Sclerosing Cholangitis |
|
Hepatic fibrosis, Cholelithiasis, Hepatitis, Cholestasis, Hepatosplenomegaly, Autoimmunity, Porta... |
ORPHA:171 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ... |
OMIM:267700 |
| Immunodeficiency 40 |
|
Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Inters... |
OMIM:616433 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Primary hypercortisolism, Pancreatitis, Increased circulating cortisol level |
OMIM:610475 |
| Immunodeficiency 7 |
|
Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia, Hepat... |
OMIM:615387 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Skin rash, Autoimmunity, Autoimmune hemolytic anemia, Systemic lupus erythematosus |
ORPHA:90036 |
| Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Pancreatitis, Aspiration pneumonia |
ORPHA:431361 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Cholestatic liver disease, Inflammation of the large intestine, Cholestasis, Interface hepatitis,... |
ORPHA:562639 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased specific anti-polysaccharide anti... |
OMIM:606367 |
| Acquired Generalized Lipodystrophy |
|
Autoimmunity, Hepatic steatosis, Cirrhosis, Hepatomegaly, Panniculitis, Acute pancreatitis |
ORPHA:79086 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Eczematoid dermatitis, Exocrine pancreatic insufficiency, Hepatosplenomegaly, Autoimmunity, Inter... |
OMIM:615952 |
| Immunodeficiency 49 |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Psoriasiform dermatitis, Eosin... |
OMIM:617237 |
| Maple Syrup Urine Disease, Type Ia |
|
Pancreatitis |
OMIM:248600 |
| Isolated Agammaglobulinemia |
|
Pneumonia, Autoimmunity, Otitis media, Skin rash, Arthritis, Sinusitis, Inflammatory abnormality ... |
ORPHA:229717 |
| Hepatoportal Sclerosis |
|
Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of t... |
ORPHA:64743 |
| Congenital Syphilis |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Prolonged neonatal jaundice, Pancreatitis, Lymp... |
ORPHA:499009 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Ascites, Splenomegaly, Increased ... |
OMIM:602347 |
| Beta-Thalassemia |
|
Cholelithiasis, Hepatitis, Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Th... |
ORPHA:848 |
| Schimke Immuno-Osseous Dysplasia |
|
Minimal change glomerulonephritis, Abnormality of thyroid physiology, Autoimmunity, Pancreatitis |
ORPHA:1830 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Spherocytosis, Splenomegaly |
ORPHA:66518 |
| Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Pancytopenia, Splenomegaly |
OMIM:614979 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Tubulointerstitial nephritis, Hepatomegaly, Pancreatitis |
OMIM:251000 |
| Cold Agglutinin Disease |
|
Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy |
ORPHA:56425 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Increased circulating IgE level, Lymphopenia, Decreased circulating IgA level, Autoimmune hemolyt... |
OMIM:102700 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Hyperbilirubinemia, Reticulocytosis, ... |
OMIM:224120 |
| Omenn Syndrome |
|
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Lymphadenopathy, Thro... |
OMIM:603554 |
| Acquired Partial Lipodystrophy |
|
Autoimmunity, Hepatic steatosis |
ORPHA:79087 |
| Hereditary Orotic Aciduria |
|
Anemia, Splenomegaly, Impaired T cell function |
ORPHA:30 |
| Acute Lung Injury |
|
Pneumonia, Acute pancreatitis |
ORPHA:178320 |
| Igg4-Related Kidney Disease |
|
Arteritis, Inflammatory abnormality of the skin, Lymphadenitis, Urinary bladder inflammation, Abn... |
ORPHA:449395 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Pancreatitis, Hepatic steatosis |
OMIM:236200 |
| Familial Cold Autoinflammatory Syndrome 2 |
|
Splenomegaly, Leukocytosis, Lymphadenopathy |
OMIM:611762 |
| Orotic Aciduria |
|
Folate-unresponsive megaloblastic anemia, Impaired T cell function, Anisocytosis, Hypochromia, Po... |
OMIM:258900 |
| Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent aphthous stomatitis, Autoimmunity, Skin rash, Otitis media, Hashimoto thyroiditis, Juve... |
ORPHA:275 |
| Igg4-Related Thyroid Disease |
|
Graves disease, Anti-thyroglobulin antibody positivity, Autoimmunity, Sclerosing cholangitis, Has... |
ORPHA:64744 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Laryngeal papilloma, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Increased circ... |
OMIM:617388 |
| Cholestasis-Lymphedema Syndrome |
|
Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,... |
ORPHA:1414 |
| Tafro Syndrome |
|
Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hepatomegaly, Elevated circulating C-rea... |
ORPHA:457077 |
| Alopecia Totalis |
|
Inflammation of the large intestine, Autoimmunity |
ORPHA:700 |
| Mirizzi Syndrome |
|
Cholelithiasis, Pancreatitis, Abnormal ductus choledochus morphology, Gallbladder perforation, Ja... |
ORPHA:521219 |
| Gamma-Heavy Chain Disease |
|
|
