Immunodeficiency 18 |
|
Defective T cell proliferation, Recurrent otitis media, Decreased proportion of CD3-positive T ce... |
OMIM:615615 |
Immunodeficiency 40 |
|
Lymphopenia |
OMIM:616433 |
Trehalase Deficiency |
|
Diarrhea, Abdominal pain |
OMIM:612119 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent bacterial infections, Decreased circulating IgG level, T lymphocytopenia, Recurrent can... |
OMIM:242870 |
Immunodeficiency 79 |
|
Decreased proportion of CD4-positive T cells |
OMIM:619238 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
Immunodeficiency 15A |
|
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... |
OMIM:618204 |
Wiskott-Aldrich Syndrome 2 |
|
Defective T cell proliferation, Reduced natural killer cell activity, Recurrent infections, Decre... |
OMIM:614493 |
Immunodeficiency 24 |
|
Decreased specific pneumococcal antibody level, Defective T cell proliferation, Decreased circula... |
OMIM:615897 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Agammaglobulinemia, Lymphopenia |
OMIM:200900 |
Reticular Dysgenesis |
|
Lack of T cell function, Leukopenia, Impaired T cell function, Hypoplasia of the thymus, Congenit... |
OMIM:267500 |
Immunodeficiency 64 |
|
Abnormal CD4:CD8 ratio, Anti-thyroid peroxidase antibody positivity, Defective T cell proliferati... |
OMIM:618534 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... |
OMIM:603909 |
Autoimmune Lymphoproliferative Syndrome |
|
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... |
OMIM:601859 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
B lymphocytopenia, Recurrent respiratory infections, T lymphocytopenia, Decreased circulating IgG... |
OMIM:233650 |
Okt4 Epitope Deficiency |
|
Abnormal T cell morphology |
OMIM:613949 |
Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgG level, Decreased proportion of CD4-positive helper T cells, Decreased p... |
OMIM:312863 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Autoimmunity, Lymphadenopathy, Splenomegaly, Increased proportion autoreactive unresponsive CD21-... |
OMIM:615559 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Autoimmunity, Impaired lymphocyte transformation with phytohemagglutinin, Decreased specific pneu... |
OMIM:617006 |
Immunodeficiency 17 |
|
Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia |
OMIM:615607 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy, Splenomegaly, Hypersplenism, Decreased helper T cell proportion, Pancytopenia |
OMIM:183350 |
Immunodeficiency 8 |
|
Lymphopenia |
OMIM:615401 |
Lymphoid System Deterioration, Progressive |
|
Abnormal T cell morphology, Decreased circulating IgG level, Lymphopenia, Decreased circulating t... |
OMIM:247630 |
Diarrhea 6 |
|
Diarrhea, Abdominal pain |
OMIM:614616 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Cd8 Deficiency, Familial |
|
Absence of CD8-positive T cells |
OMIM:608957 |
Immunodeficiency 72 With Autoinflammation |
|
Increased B cell count, Herpes simplex encephalitis, Increased proportion of memory T cells, Bron... |
OMIM:618982 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Reduced natural killer cell activity, Anemia, Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis |
OMIM:608898 |
Immunodeficiency 14A, Autosomal Dominant |
|
Increased proportion of transitional B cells, Decreased proportion of class-switched memory B cel... |
OMIM:615513 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Increased circulating antibody level... |
OMIM:615285 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Pneumonia, Increased circulating antibody level, Lymphopenia, Plasmacytosis, Glomerulonephritis, ... |
OMIM:247800 |
Immunodeficiency, Common Variable, 1 |
|
B lymphocytopenia, Hepatomegaly, Decreased proportion of class-switched memory B cells, Pneumonia... |
OMIM:607594 |
Lactose Intolerance, Adult Type |
|
Flatulence, Diarrhea, Abdominal pain |
OMIM:223100 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Autoimmunity, Hepatomegaly, Lymphadenopathy, Recurrent otitis media, Splenomegaly, Recurrent urin... |
OMIM:618495 |
Caspase 8 Deficiency |
|
Eczema, Pneumonia, Decreased circulating IgA level, Lymphadenopathy, Decreased circulating IgG le... |
OMIM:607271 |
Immunodeficiency 81 |
|
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs... |
OMIM:619374 |
Immunodeficiency 42 |
|
Hypoplasia of the thymus |
OMIM:616622 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
Congenital Sucrase-Isomaltase Deficiency |
|
Abdominal distention, Diarrhea, Vomiting, Abdominal colic |
ORPHA:35122 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Decreased proportion of class-switched memory B cells, Decreased proportion of marg... |
OMIM:619375 |
Cernunnos-Xlf Deficiency |
|
Recurrent bacterial infections, B lymphocytopenia, Recurrent viral infections, Decreased circulat... |
ORPHA:169079 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... |
OMIM:616452 |
Immunodeficiency, Common Variable, 6 |
|
Macroscopic hematuria, Hepatomegaly, Hydronephrosis, Decreased specific pneumococcal antibody lev... |
OMIM:613496 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Neutropenia, Lymphadenopathy, Recurrent infections, Decreased proportion of CD3-positive T cells,... |
ORPHA:169154 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive |
|
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly |
OMIM:608971 |
Immunodeficiency 84 |
|
B lymphocytopenia, Perianal abscess, Splenomegaly |
OMIM:619437 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
B lymphocytopenia, Decreased circulating IgG level, Abnormally low T cell receptor excision circl... |
OMIM:618987 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphadenopathy, Recurrent otitis media, Hepatitis, Splenomegaly, Autoimmune thrombocytopenia, Re... |
ORPHA:444463 |
Immunodeficiency 50 |
|
Neutropenia, Decreased circulating antibody level, Recurrent urinary tract infections, Lymphopeni... |
OMIM:300988 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Abnormally low T cell receptor excision circle level, T lymphocytopenia |
OMIM:618806 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Absent tonsils, Decreased circulating IgA level, Decreased circulating IgG level, Abnormality of ... |
OMIM:611926 |
Severe Combined Immunodeficiency, X-Linked |
|
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Dec... |
OMIM:300400 |
Immunodeficiency 48 |
|
Eczematoid dermatitis, Hepatomegaly, Pneumonia, Splenomegaly, Panhypogammaglobulinemia |
OMIM:269840 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Diarrhea, Vomiting |
OMIM:605911 |
Immunodeficiency 25 |
|
Erythroderma, Complete or near-complete absence of specific antibody response to tetanus vaccine,... |
OMIM:610163 |
Immunodeficiency 76 |
|
B lymphocytopenia, Lymphadenopathy, Splenomegaly, Lymphopenia, T lymphocytopenia |
OMIM:619164 |
Complement Component 8 Deficiency, Type I |
|
Systemic lupus erythematosus, Decreased serum complement C8 |
OMIM:613790 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
Immunodeficiency 11 |
|
Recurrent respiratory infections, Decreased circulating antibody level, Pneumonia |
OMIM:615206 |
Autoimmune Disease |
|
Autoimmunity, Autoimmune antibody positivity |
OMIM:109100 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Hypoplasia of the thymus, Reduced antigen-specific T cell proliferation, Reduced delayed hypersen... |
OMIM:617241 |
Immunodeficiency 19 |
|
Lymphopenia |
OMIM:615617 |
Agammaglobulinemia 8, Autosomal Dominant |
|
B lymphocytopenia, Agammaglobulinemia |
OMIM:616941 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased circulating total IgA, Erythroderma, Pneumonia, Decreased circulating IgG level, Decrea... |
ORPHA:169160 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Mediastinal lymphadenopathy, Decreased CD69 upregulation upon TCR activation, Bronchiectasis, Lym... |
OMIM:300853 |
Nephrotic Syndrome, Type 7 |
|
Nephrotic syndrome, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Acute kidney injur... |
OMIM:615008 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absent tonsils, B lymphocytopenia, Sinusitis, Inflammatory abnormality of the skin, Lack of T cel... |
ORPHA:277 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Inflammation of the large intestine, Folliculitis, Colitis, Decreased circulating a... |
OMIM:300635 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Decreased circulating total IgM, Splenomegaly |
OMIM:606445 |
Autoimmune Lymphoproliferative Syndrome |
|
Autoimmunity, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, R... |
ORPHA:3261 |
Pemphigus Vulgaris, Familial |
|
Autoimmunity, Autoimmune antibody positivity |
OMIM:169610 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Increased circulating IgA level, Thrombocytopenia, Hematuria, Glomerulonephritis |
OMIM:314000 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
B lymphocytopenia, Pneumonia, Arthritis, Panhypogammaglobulinemia, Otitis media, T lymphocytopeni... |
OMIM:601457 |
Fetal Cytomegalovirus Syndrome |
|
Hepatomegaly, Anemia, Splenomegaly |
ORPHA:294 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Sinusitis, B lymphocytopenia, Agammaglobulinemia, Neutropenia, Pneumonia, Bronchiectasis, Decreas... |
OMIM:601495 |
Immunodeficiency 14B, Autosomal Recessive |
|
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Decreased circulating IgA level, De... |
OMIM:619281 |
Immunodeficiency 52 |
|
Bronchiectasis, Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Ly... |
OMIM:617514 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Bence Jones Proteinuria, Anemia, Splenomega... |
ORPHA:100024 |
Immunodeficiency 20 |
|
Reduced natural killer cell count, Reduced natural killer cell activity |
OMIM:615707 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, ... |
OMIM:619220 |
Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
Immunodeficiency 27A |
|
Thrombocytosis, Leukocytosis, Enlarged mesenteric lymph node, Pneumonia, Lymphadenopathy, Salmone... |
OMIM:209950 |
Secretory Component Deficiency |
|
Intermittent diarrhea |
OMIM:269650 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Sinusitis, B lymphocytopenia, Atopic dermatitis, Decreased specific antibody response to polysacc... |
ORPHA:70593 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Neutropenia, Decreased circulating IgA level, Impaired memory B cell generation, Decreased circul... |
OMIM:606843 |
C1Q Deficiency |
|
Autoimmunity, Systemic lupus erythematosus, Decreased serum complement factor I, Membranoprolifer... |
OMIM:613652 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Neutropenia, Stomatitis, Hepatitis, Splenomegaly, Dysgammaglobulinemia, Hemolytic anemia, Enlarge... |
OMIM:308230 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Diarrhea |
OMIM:614102 |
Acute Monoblastic/Monocytic Leukemia |
|
Leukocytosis, Anemia, Hypochromic anemia, Oliguria, Lymphocytosis, Acute monocytic leukemia, Cerv... |
ORPHA:514 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Anti-glutamic acid decarboxylase antibody positivity, Eczema, Neutropenia, Erythroderma, Glomerul... |
OMIM:304790 |
Immunodeficiency 75 |
|
Lymphadenopathy, Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Folli... |
OMIM:619126 |
Lymphoproliferative Syndrome 3 |
|
Reduced natural killer cell count, Hepatosplenomegaly |
OMIM:618261 |
Complement Component 4, Partial Deficiency Of |
|
Systemic lupus erythematosus |
OMIM:120790 |
Anal Sphincter Dysplasia |
|
Bowel incontinence, Diarrhea, Encopresis, Constipation, Chronic constipation |
OMIM:105563 |
Myelolymphatic Insufficiency |
|
Hyposegmentation of neutrophil nuclei, Leukopenia |
OMIM:310350 |
Immunodeficiency 89 And Autoimmunity |
|
Hypochromic microcytic anemia, Bronchiectasis, Increased circulating IgA level, Increased circula... |
OMIM:619632 |
C3 Glomerulopathy |
|
Autoimmunity, C3 nephritic factor positivity, Nephrotic syndrome, Decreased serum complement C4, ... |
ORPHA:329918 |
X-Linked Lymphoproliferative Disease |
|
Myocarditis, Autoimmunity, Inflammation of the large intestine, Lymphadenopathy, Decreased circul... |
ORPHA:2442 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Autoimmunity, Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Decreased lymphocyte apoptosis, S... |
OMIM:614470 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Thrombocytosis, Pustule, Leukopenia, Myositis, Increased circulating IgA level, Paratracheal lymp... |
OMIM:615934 |
Monocyte Chemotactic Disorder |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:252250 |
Lupus Erythematosus Tumidus |
|
Anti-La/SS-B antibody positivity, Autoimmune antibody positivity, Antinuclear antibody positivity... |
ORPHA:90283 |
Trehalase Deficiency |
|
Abdominal distention, Diarrhea, Abdominal pain, Vomiting |
ORPHA:103909 |
Primary Membranoproliferative Glomerulonephritis |
|
C3 nephritic factor positivity, Nephrotic syndrome, Stage 5 chronic kidney disease, Renal insuffi... |
ORPHA:54370 |
Whim Syndrome 2 |
|
Chronic neutropenia |
OMIM:619407 |
Immunodeficiency, Common Variable, 5 |
|
Chronic decreased circulating total IgG, Antinuclear antibody positivity |
OMIM:613495 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Plasmacytosis, Autoimmune antibody positivity, Mediastinal lymphadenopathy, Follicular hyperplasia |
ORPHA:60026 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Decreased circulating antibody level, Anemia, Abnormal natural killer cell physiology, Splenomega... |
OMIM:613101 |
Diamond-Blackfan Anemia 18 |
|
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia |
OMIM:618310 |
Cirrhosis, Familial |
|
Cirrhosis, Chronic active hepatitis, Increased circulating antibody level, Hepatitis |
OMIM:118900 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T lymphocy... |
ORPHA:231154 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Neutropenia, Infectious encephalitis, Lymphadenopathy, Reduced natural killer cell ... |
OMIM:308240 |
Pgm3-Cdg |
|
Autoimmunity, Eczema, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Chronic ... |
ORPHA:443811 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased proportion of CD3-positive T cells, Jaundice, Absent tonsils, Lymph node hypoplasia, Re... |
ORPHA:276 |
Immunodeficiency, Common Variable, 2 |
|
Conjunctivitis, Autoimmunity, Hepatomegaly, Impaired T cell function, Decreased circulating IgA l... |
OMIM:240500 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Keratoconjunctivitis sicca, Hepatomegaly, Increased circulating IgA level, Increased circulating ... |
OMIM:617388 |
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Neutropenia, Lymphopenia |
OMIM:614868 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pneumonia, Cutaneous anergy, Recurren... |
OMIM:600802 |
Neutrophilia, Hereditary |
|
Neutrophilia, Hepatosplenomegaly |
OMIM:162830 |
Lipoprotein Glomerulopathy |
|
Glomerulopathy, Proteinuria, Renal insufficiency, Mesangial hypercellularity |
OMIM:611771 |
Thrombocytopenia, Cyclic |
|
Thrombocytopenia, Neutropenia, Cyclic neutropenia |
OMIM:188020 |
Immunodeficiency 13 |
|
B lymphocytopenia, Recurrent otitis media, Recurrent upper respiratory tract infections, Recurren... |
OMIM:615518 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Chronic bronchitis, Neutropenia, Hepatosplenomegaly, Pancytopenia, Monocytopenia, Recurrent respi... |
OMIM:618986 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Recurrent oppo... |
ORPHA:911 |
Immunodeficiency, Common Variable, 7 |
|
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... |
OMIM:614699 |
Hyper-Igd Syndrome |
|
Leukocytosis, Vomiting, Increased circulating IgA level, Lymphadenopathy, Lymphadenitis, Chronic ... |
OMIM:260920 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Atopic dermatitis, B lymphocytopenia, Pneumonia, Chronic otitis media, Increased circulating IgE ... |
ORPHA:217390 |
Atypical Hemolytic Uremic Syndrome |
|
Microangiopathic hemolytic anemia, Abnormality of complement system, Hematuria, Decreased serum c... |
ORPHA:2134 |
Tn Polyagglutination Syndrome |
|
Autoimmunity |
OMIM:300622 |
Autoimmune Hepatitis |
|
Inflammation of the large intestine, Splenomegaly, Diffuse hepatic steatosis, Gastrointestinal he... |
ORPHA:2137 |
Immunodeficiency 51 |
|
Eczema, Folliculitis, Pustule, Pneumonia, Chronic furunculosis, Recurrent bronchitis, Chronic ora... |
OMIM:613953 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Angioedema, Hereditary, 8 |
|
Abdominal pain, Diarrhea, Episodic vomiting |
OMIM:619367 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Recurrent respiratory infections, Agammaglobulinemia, Neutropenia, Recurrent infections |
OMIM:615214 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Leukemia, Monoclonal immunoglobulin M proteinemia, Impaired lymphocyte transformation with phytoh... |
OMIM:153600 |
Immunodeficiency 57 With Autoinflammation |
|
B lymphocytopenia, Reduced natural killer cell count, T lymphocytopenia, Perianal abscess |
OMIM:618108 |
Transcobalamin Deficiency |
|
Neutropenia, Methylmalonic aciduria, Decreased circulating IgA level, Decreased circulating IgG l... |
ORPHA:859 |
Systemic Lupus Erythematosus |
|
Lupus nephritis, Pericarditis, Leukopenia, Systemic lupus erythematosus, Nephritis, Arthritis, Ma... |
OMIM:152700 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Autoimmunity, Hepatomegaly, Abnormal B cell count, Decreased circulating IgA level, Lymphadenitis... |
ORPHA:331206 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Nephrotic syndrome, Systemic lupus erythematosus, Decreased serum complement C3, Membranoprolifer... |
OMIM:613779 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Abnormal glomerular mesangium morphology, Synovitis, Nephrotic syndrome, Decreased serum compleme... |
ORPHA:567544 |
Immunodeficiency 92 |
|
Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... |
OMIM:619652 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgA level, Decreased circulating IgG level |
OMIM:146830 |
Immunodeficiency 37 |
|
Infectious encephalitis, Colitis, Decreased proportion of central memory CD4-positive, alpha-beta... |
OMIM:616098 |
Cyclic Neutropenia |
|
Neutropenia, Cyclic neutropenia |
OMIM:162800 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Immunodeficiency, Common Variable, 13 |
|
Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circulating antibody level |
OMIM:616873 |
Acquired Partial Lipodystrophy |
|
Autoimmunity, Hepatic steatosis, Microscopic hematuria, Lymphocytosis, Decreased serum complement... |
ORPHA:79087 |
Simple Cryoglobulinemia |
|
Viral hepatitis, Chronic lymphatic leukemia, Pericarditis, Nephrotic syndrome, Monoclonal immunog... |
ORPHA:91139 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Leukocytosis, Increased proportion of CD4-positive T cells, Increased circulating IgA level, Lymp... |
OMIM:617099 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Increased circulating interleukin 6, Decreased proportion of class-switched memory B cells, Decre... |
OMIM:618944 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Bronchiectasis, Osteomyelitis, Autoimmune thrombocytopenia, Recurrent upper respiratory tract inf... |
OMIM:608184 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... |
OMIM:619313 |
Systemic Lupus Erythematosus 16 |
|
Systemic lupus erythematosus, Nephritis |
OMIM:614420 |
Immunodeficiency 60 And Autoimmunity |
|
Bronchiectasis, Decreased circulating IgA level, Decreased circulating IgG level, Perinuclear ant... |
OMIM:618394 |
Halothane Hepatitis |
|
Viral hepatitis, Eosinophilia, Hepatitis, Jaundice |
OMIM:234350 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Eczema, Psoriasiform dermatitis, Bronchiectasis, Decreased circulating IgA level, L... |
OMIM:616100 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Leukocytosis, Hepatomegaly, Anemia, Abnormality of the lymph nodes, Splenomegaly, Hepatosplenomeg... |
OMIM:612840 |
Complement Component C1R/C1S Deficiency |
|
Complement deficiency, Autoimmunity, Nephritis |
OMIM:216950 |
Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Nephrotic syndrome, Monocytosis, Lymphadenopathy, Hemolytic-uremic syndrome, Renal ... |
OMIM:619644 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Neutropenia, Recurrent protozoan infections, Recurrent herpes, Neutropenia in presence of anti-ne... |
ORPHA:572 |
Immunodeficiency, Common Variable, 14 |
|
Decreased proportion of class-switched memory B cells, Decreased specific antibody response to va... |
OMIM:617765 |
Boutonneuse Fever |
|
Leukopenia, Nausea, Lymphadenopathy, Increased circulating IgG level, Increased circulating IgM l... |
ORPHA:83313 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
Pancytopenia And Occlusive Vascular Disease |
|
Pancytopenia, Thrombocytopenia, Anemia, Leukopenia |
OMIM:167850 |
Immunodeficiency 86 |
|
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level |
OMIM:619549 |
Immunoerythromyeloid Hypoplasia |
|
Decreased circulating IgG level, Erythroid hypoplasia |
OMIM:242880 |
Omenn Syndrome |
|
B lymphocytopenia, Hepatomegaly, Lymphadenopathy, Hypoplasia of the thymus, Anemia, Splenomegaly,... |
OMIM:603554 |
Complement Component C1S Deficiency |
|
Abnormality of complement system, Hashimoto thyroiditis, Systemic lupus erythematosus |
OMIM:613783 |
Sepsis In Premature Infants |
|
Leukocytosis, Hepatomegaly, Increased circulating interleukin 6, Neutropenia, Vomiting, Anemia, R... |
ORPHA:90051 |
Histiocytosis, Familial Lipochrome |
|
Increased circulating antibody level, Histiocytosis |
OMIM:235900 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Neutropenia |
OMIM:162700 |
Immunodeficiency, Common Variable, 3 |
|
Decreased proportion of class-switched memory B cells, Reduced isohemagglutinin level, Decreased ... |
OMIM:613493 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections, Abnor... |
OMIM:308220 |
Immunoglobulin A Deficiency 2 |
|
Decreased circulating IgA level, Autoimmunity, Abnormal lymphocyte morphology |
OMIM:609529 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center |
OMIM:235550 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Absent tonsils, Pneumonia, Lymph node hypoplasia, Aplasia of the thymus, Recurrent upper respirat... |
OMIM:602450 |
Sea-Blue Histiocyte Disease |
|
Cirrhosis, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly |
OMIM:269600 |
Tubulointerstitial Nephritis With Uveitis |
|
Reversible renal failure, Circulating immune complexes, Anterior uveitis, Panuveitis, Uveitis, Gl... |
OMIM:607665 |
Pediatric Systemic Lupus Erythematosus |
|
Thrombocytopenia, Lymphadenopathy, Antinuclear antibody positivity, Diarrhea, Vomiting, Nephrotic... |
ORPHA:93552 |
Immunodeficiency 68 |
|
B lymphocytopenia, Lymphadenitis, Abscess, T lymphocytopenia, Abnormal natural killer cell count |
OMIM:612260 |
Hyperprolinemia Type 1 |
|
Prolinuria, Proteinuria, Nephropathy |
ORPHA:419 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Abnormal T cell morphology, Eczematoid dermatitis, Pyoderma, Bronchiectasis, Recurrent bronchopul... |
OMIM:242700 |
Igg4-Related Kidney Disease |
|
Tubulointerstitial nephritis, Lymphadenopathy, Rheumatoid factor positive, Chronic kidney disease... |
ORPHA:449395 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgA level, Decreased circulating IgG level, Reduced natural killer cell cou... |
OMIM:619510 |
Systemic Capillary Leak Syndrome |
|
Myocarditis, Leukocytosis, Pericarditis, Pancreatitis, Oliguria, Abnormal renal tubule morphology... |
ORPHA:188 |
Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
Gamma-A-Globulin, Defect In Assembly Of |
|
Decreased circulating IgA level |
OMIM:137050 |
Indolent Systemic Mastocytosis |
|
Osteoporosis, Abnormal mast cell morphology, Splenomegaly, Skin rash, Maculopapular exanthema, In... |
ORPHA:98848 |
Adenine Phosphoribosyltransferase Deficiency |
|
Macroscopic hematuria, Urinary hesitancy, Urinary retention, Dysuria, Nephrolithiasis, Stage 5 ch... |
ORPHA:976 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal platelet function, Anemia, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia |
ORPHA:231393 |
Nephrotic Syndrome, Type 16 |
|
Hematuria, Proteinuria, Nephrotic syndrome |
OMIM:617783 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Microscopic hematuria, Proteinuria, Nephropat... |
OMIM:137950 |
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280794 |
Thymoma |
|
Autoimmunity, Imbalanced hemoglobin synthesis, Abnormal lymphocyte proliferation, Anti-acetylchol... |
ORPHA:99867 |
Masp2 Deficiency |
|
Complement deficiency, Systemic lupus erythematosus |
OMIM:613791 |
Autosomal Agammaglobulinemia |
|
Sinusitis, Agammaglobulinemia, Neutropenia, Bronchiectasis, Chronic otitis media, Hepatitis, Arth... |
ORPHA:33110 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Sinusitis, B lymphocytopenia, Hepatomegaly, Pneumonia, Decreased circulating IgA level, Reduced r... |
OMIM:102700 |
Multiple Myeloma |
|
Nephrotic syndrome, Increased circulating IgA level, Lymphadenopathy, Decreased circulating antib... |
ORPHA:29073 |
Undritz Anomaly |
|
Hypersegmentation of neutrophil nuclei |
OMIM:191500 |
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:614199 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Diarrhea 11, Malabsorptive, Congenital |
|
Diarrhea |
OMIM:618662 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Atopic dermatitis, Nephrotic syndrome, Membranous nephropathy, Hepatic cysts, Colonic eosinophili... |
OMIM:618999 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Recurrent infection of the gastrointestinal tract, B lymphocytopenia, Impaired lymphocyte transfo... |
ORPHA:35078 |
Tularemia |
|
Brain abscess, Leukocytosis, Mediastinal lymphadenopathy, Pneumonia, Lymphadenopathy, Anemia, Cou... |
ORPHA:3392 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Secretory diarrhea, Abdominal distention, Inflammation of the large intestine |
OMIM:616868 |
Adult-Onset Still Disease |
|
Myocarditis, Leukocytosis, Hepatomegaly, Restrictive ventilatory defect, Pericarditis, Hepatitis,... |
ORPHA:829 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Chronic pulmonary obstruction, Bronchiectasis, Recurrent sinopulmonary infections, Decreased circ... |
OMIM:616576 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Anti-thyroid peroxidase antibody positivity, Autoimmunity, Eczema, Neutropenia, Tubulointerstitia... |
ORPHA:37042 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly |
ORPHA:46532 |
Immunodeficiency 70 |
|
B lymphocytopenia, Decreased circulating total IgA, Decreased circulating total IgG, Decreased ci... |
OMIM:618969 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Iron deficiency anemia, Antineutrophil antibody positivity, Cardiomegaly, Rheumatoi... |
ORPHA:99931 |
Inflammatory Bowel Disease 11 |
|
Diarrhea, Inflammation of the large intestine, Abdominal pain, Hematochezia |
OMIM:191390 |
Pulmonary Nodular Lymphoid Hyperplasia, Familial |
|
IgA deposition in the glomerulus, Systemic lupus erythematosus, Increased circulating antibody le... |
OMIM:178610 |
X-Linked Agammaglobulinemia |
|
Sinusitis, Agammaglobulinemia, Neutropenia, Recurrent cutaneous abscess formation, Chronic otitis... |
ORPHA:47 |
Bare Lymphocyte Syndrome, Type Ii |
|
Cholangitis, Agammaglobulinemia, Neutropenia, Infectious encephalitis, Colitis, Cutaneous anergy,... |
OMIM:209920 |
Hemoglobin H Disease |
|
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia |
OMIM:613978 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Agammaglobulinemia, Neutropenia, Recurrent bronchitis, Recurrent otitis media, Recurrent respirat... |
OMIM:613501 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Inflammation of the large intestine, Lymphadenopathy, Splenomegaly, Uveitis, Decreased circulatin... |
OMIM:614700 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Absent microvilli on the surface of peripheral blood lymphocytes, Sinusitis, Eczema, Inflammation... |
OMIM:600903 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Atopic dermatitis, Eosinophilia, Asthma, Pneumonia |
OMIM:617638 |
Neutropenia, Severe Congenital, X-Linked |
|
Neutropenia |
OMIM:300299 |
Hashimoto Thyroiditis |
|
Hashimoto thyroiditis, Autoimmune antibody positivity |
OMIM:140300 |
Purine Nucleoside Phosphorylase Deficiency |
|
Sinusitis, Pneumonia, Neutropenia in presence of anti-neutropil antibodies, Impaired T cell funct... |
OMIM:613179 |
Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Inflammation of the large intestine, ... |
OMIM:301000 |
Primary Myelofibrosis |
|
Leukocytosis, Thrombocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenome... |
ORPHA:824 |
Immunodeficiency, Common Variable, 4 |
|
Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ... |
OMIM:613494 |
Amyloidosis, Familial Visceral |
|
Hepatomegaly, Nephrotic syndrome, Hematuria, Splenomegaly, Cholestasis, Nephropathy, Skin rash, P... |
OMIM:105200 |
Nephrotic Syndrome, Type 18 |
|
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Stage 5 ch... |
OMIM:618177 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Neutropenia |
OMIM:616022 |
Myeloproliferative Syndrome, Transient |
|
Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
Focal Segmental Glomerulosclerosis 8 |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:616032 |
Nephrotic Syndrome, Type 20 |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:301028 |
Schimke Immuno-Osseous Dysplasia |
|
Decreased proportion of naive CD8 T cells, Autoimmunity, Focal segmental glomerulosclerosis, Neut... |
ORPHA:1830 |
Nephrotic Syndrome, Type 19 |
|
Steroid-resistant nephrotic syndrome, Chronic kidney disease, Focal segmental glomerulosclerosis,... |
OMIM:618178 |
Iga Pemphigus |
|
Pustule, Increased circulating IgA level, Neutrophilic infiltration of the skin, Autoimmune antib... |
ORPHA:555905 |
Griscelli Syndrome, Type 2 |
|
Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis |
OMIM:607624 |
Immunoglobulin M, Level Of |
|
Decreased circulating total IgM |
OMIM:308250 |
Paroxysmal Extreme Pain Disorder |
|
Constipation |
ORPHA:46348 |
Autoinflammation With Infantile Enterocolitis |
|
Anemia, Splenomegaly, Reduced natural killer cell count, Pancytopenia, Thrombocytopenia, Diffuse ... |
OMIM:616050 |
Nephrotic Syndrome, Type 17 |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s... |
OMIM:618176 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Neutropenia |
ORPHA:90023 |
Nephrotic Syndrome, Type 23 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Podocyte foot process effa... |
OMIM:619201 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Increased circulating IgE level |
OMIM:221700 |
Progressive Multifocal Leukoencephalopathy |
|
CNS demyelination, Abnormal oligodendroglia morphology, Abnormal astrocyte morphology, Abnormal p... |
ORPHA:217260 |
Candidiasis, Familial, 1 |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:114580 |
Hemorrhagic Fever-Renal Syndrome |
|
Tubulointerstitial nephritis, Decreased glomerular filtration rate, Melena, Chronic kidney diseas... |
ORPHA:340 |
Specific Granule Deficiency 1 |
|
Absent neutrophil lactoferrin, Absent neutrophil specific granules, Increased neutrophil mitochon... |
OMIM:245480 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly |
OMIM:206400 |
Candidiasis, Familial, 2 |
|
Lymphadenopathy, Increased circulating IgE level, Chronic oral candidiasis, Hypereosinophilia |
OMIM:212050 |
Immunodeficiency 16 |
|
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly |
OMIM:615593 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Agammaglobulinemia, Neutropenia, Chronic sinusitis, Recurrent otitis media, Recurrent pneumonia, ... |
OMIM:613502 |
Microscopic Polyangiitis |
|
Sinusitis, Autoimmunity, Pericarditis, Episcleritis, Peritonitis, Hematuria, Pancreatitis, Arthri... |
ORPHA:727 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Lymphadenopathy, Abscess, Splenomegaly, I... |
OMIM:150550 |
Aspergillosis |
|
Sinusitis, Neutropenia, Hepatitis, Pleuritis, Eosinophilia, Chronic pulmonary obstruction, Infect... |
ORPHA:1163 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Decreased circulating IgA level, Lymphadenopathy, Decreased circulating IgG level, Epididymitis, ... |
OMIM:608106 |
Lymphoproliferative Syndrome 1 |
|
Autoimmunity, Hepatomegaly, Leukopenia, Stomatitis, Lymphadenopathy, Decreased circulating IgG le... |
OMIM:613011 |
Focal Segmental Glomerulosclerosis 10 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... |
OMIM:256020 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Increased circulati... |
OMIM:202700 |
Selective Igm Deficiency |
|
Sepsis, Recurrent herpes, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, ... |
ORPHA:331235 |
Thymic Aplasia |
|
Sinusitis, Eczematoid dermatitis, Decreased proportion of naive T cells, Pneumonia, Coombs-positi... |
ORPHA:83471 |
Trimethylaminuria |
|
Neutropenia, Anemia, Splenomegaly, Recurrent pneumonia, Trimethylaminuria |
OMIM:602079 |
Schnitzler Syndrome |
|
Leukocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Arthritis, Splenomegaly, Increased circulati... |
ORPHA:37748 |
5-Oxoprolinase Deficiency |
|
Diarrhea, Abdominal pain, Vomiting, Enterocolitis |
OMIM:260005 |
Focal Segmental Glomerulosclerosis 7 |
|
Renal hypoplasia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:616002 |
Jessner Lymphocytic Infiltration Of The Skin |
|
Abnormal lymphocyte morphology |
ORPHA:33314 |
Iga Nephropathy, Susceptibility To, 3 |
|
IgA deposition in the glomerulus, Hematuria, Stage 5 chronic kidney disease, Mesangial hypercellu... |
OMIM:616818 |
Whim Syndrome 1 |
|
Neutropenia, Bronchiectasis, Decreased circulating IgG level, Decreased circulating antibody leve... |
OMIM:193670 |
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Glomerulonephritis, Renal insufficiency, Nephrotic syndrome, Glomerular deposits |
ORPHA:69063 |
Nail-Patella-Like Renal Disease |
|
Glomerulopathy, Microscopic hematuria, Proteinuria, Renal insufficiency |
ORPHA:2613 |
Infection-Related Hemolytic Uremic Syndrome |
|
Brain abscess, Myocarditis, Septic arthritis, Diarrhea, Hemolytic anemia, Abnormality of interfer... |
ORPHA:544482 |
Immunodeficiency 7 |
|
Lymphadenopathy, Autoimmunity, Hypereosinophilia |
OMIM:615387 |
Iga Nephropathy, Susceptibility To, 2 |
|
IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria |
OMIM:613944 |
Cutaneous Photosensitivity And Colitis, Lethal |
|
Diarrhea, Colitis |
OMIM:219095 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, B lymphocytopenia, Eczema, Psoriasiform dermatitis, Erythroderma, Decreased cir... |
OMIM:606367 |
Renal Failure, Progressive, With Hypertension |
|
Nephritis, Stage 5 chronic kidney disease, Microscopic hematuria, Proteinuria, Renal insufficiency |
OMIM:161900 |
Diarrhea 4, Malabsorptive, Congenital |
|
Diarrhea, Vomiting |
OMIM:610370 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Neutropenia, Decreased circulating total IgM |
OMIM:610798 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute lymphoblastic leukemia, Neutropenia, Anemia, Splenomegaly, Acute myeloid leukemia, Hepatosp... |
ORPHA:158057 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Myocarditis, Tubulointerstitial nephritis, Erythroderma, Infectious encephalitis, Pustule, Lympha... |
ORPHA:139402 |
Beta-Thalassemia Intermedia |
|
Leukocytosis, Hepatomegaly, Erythroid hyperplasia, Elevated hepatic iron concentration, Hepatocel... |
ORPHA:231222 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Autoimmunity, Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly |
ORPHA:228312 |
Aicardi-Goutieres Syndrome 7 |
|
Atopic dermatitis, Hepatomegaly, Nephrotic syndrome, Splenomegaly, Increased circulating antibody... |
OMIM:615846 |
Griscelli Syndrome |
|
Hepatomegaly, Leukopenia, Lymphadenopathy, Decreased circulating antibody level, Bone marrow hypo... |
ORPHA:381 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Microangiopathic hemolytic anemia, Anuria, Hematuria, Anemia, Hemolytic-uremic syndrome, Acute ki... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Microangiopathic hemolytic anemia, Anuria, Hematuria, Anemia, Hemolytic-uremic syndrome, Acute ki... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Microangiopathic hemolytic anemia, Anuria, Hematuria, Anemia, Hemolytic-uremic syndrome, Acute ki... |
OMIM:612925 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Microangiopathic hemolytic anemia, Anuria, Hematuria, Anemia, Hemolytic-uremic syndrome, Acute ki... |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Microangiopathic hemolytic anemia, Anuria, Hematuria, Anemia, Hemolytic-uremic syndrome, Acute ki... |
OMIM:612926 |
Diarrhea 9 |
|
Diarrhea |
OMIM:618168 |
Immunodeficiency, Common Variable, 11 |
|
Increased circulating IgE level, Decreased circulating IgG level, Decreased proportion of class-s... |
OMIM:615767 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Nephrotic syndrome, Renal cell carcinoma, Stage 5 chronic kidney disease, Microscopic hematuria, ... |
OMIM:601894 |
Sucrase-Isomaltase Deficiency, Congenital |
|
Diarrhea, Abdominal pain |
OMIM:222900 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Neutropenia |
ORPHA:70592 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Focal Segmental Glomerulosclerosis 2 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Chronic k... |
OMIM:603965 |
Brucellosis |
|
Myocarditis, Lymphadenopathy, Knee osteoarthritis, Rheumatoid factor positive, Septic arthritis, ... |
ORPHA:1304 |
Acute Erythroid Leukemia |
|
Leukopenia, Anemia, Bone marrow hypocellularity, Erythroid hypoplasia, Pancytopenia |
ORPHA:318 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Decreased circulating antibody level, Agammaglobulinemia |
OMIM:616911 |
Common Variable Immunodeficiency |
|
Restrictive ventilatory defect, Pneumonia, Bronchiectasis, Lymphadenopathy, Chronic otitis media,... |
ORPHA:1572 |
Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia, Proteinuria |
OMIM:189800 |
Kimura Disease |
|
Increased circulating IgE level, Eosinophilia |
ORPHA:482 |
Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
Heme Oxygenase 1 Deficiency |
|
Thrombocytosis, Hepatomegaly, Increased circulating interleukin 6, Asplenia, Coombs-positive hemo... |
OMIM:614034 |
Immunodeficiency 21 |
|
Abnormal natural killer cell morphology, Neutropenia, Lymphopenia, Myeloid leukemia, Monocytopeni... |
OMIM:614172 |
Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... |
OMIM:133180 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Enteroviral hepatitis, Infectious encephalitis, Pyoderma, Absent circulating B cells, ... |
OMIM:307200 |
Cystic Echinococcosis |
|
Hepatomegaly, Splenic cyst, Peritoneal abscess, Membranous nephropathy, Abscess, Biliary tract ob... |
ORPHA:400 |
Immunodeficiency 36 |
|
Chronic lymphatic leukemia, Bronchiectasis, Decreased circulating antibody level, Splenomegaly, L... |
OMIM:616005 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Focal segmental glomerulosclerosis, Dysphagia, Nephrotic syndrome, Nephropathy, Glomerulopathy, T... |
OMIM:254900 |
Lassa Fever |
|
Conjunctivitis, Dysphagia, Oliguria, Increased circulating IgM level, Diarrhea, Jaundice |
ORPHA:99824 |
Immunodeficiency 23 |
|
Eczema, Allergic rhinitis, Neutropenia, Bronchiectasis, Abscess, Increased circulating IgG level,... |
OMIM:615816 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Bloody diarrhea, Ulcerative colitis |
OMIM:619398 |
Nephronophthisis |
|
Renal insufficiency, Anemia |
ORPHA:655 |
Complement Component 4A Deficiency |
|
Decreased serum complement C4, Reduced hemolytic complement activity, Glomerulonephritis, Systemi... |
OMIM:614380 |
Immunodeficiency 54 |
|
Reduced natural killer cell count, Splenomegaly |
OMIM:609981 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Impaired Ig class switch recomb... |
OMIM:605258 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Neutropenia, Lymphadenopathy, Hepatitis, Anemia, Splenomegaly, Increased inflammato... |
ORPHA:158061 |
Lujo Hemorrhagic Fever |
|
Myocarditis, Leukocytosis, Dysphagia, Leukopenia, Vomiting, Nausea, Rhinitis, Fulminant hepatitis... |
ORPHA:319213 |
Cap Polyposis |
|
Atrophic gastritis, Abdominal distention, Hematochezia, Diarrhea, Abdominal pain, Constipation |
ORPHA:160148 |
Immunodeficiency 56 |
|
Cholangitis, Bronchiectasis, Recurrent otitis media, Cirrhosis, Panhypogammaglobulinemia, Recurre... |
OMIM:615207 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Schistocytosis, Microangiopathic hemolytic anemia, Decreased serum complement factor H, Anuria, H... |
OMIM:235400 |
Igg4-Related Aortitis |
|
Autoimmunity, Hydronephrosis, Increased circulating IgG4 level, Cytoplasmic antineutrophil antibo... |
ORPHA:449400 |
Bone Marrow Failure Syndrome 2 |
|
Bone marrow hypocellularity, Anemia, Thrombocytopenia, Leukopenia |
OMIM:615715 |
Nephrotic Syndrome, Type 10 |
|
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minimal change glomerulon... |
OMIM:615861 |
Adult Idiopathic Neutropenia |
|
Recurrent bacterial infections, Neutropenia, Helicobacter pylori infection, Monocytosis, Recurren... |
ORPHA:2688 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Lymphadenopathy, Rheumatoid factor positive, Splenomegaly, Microcytic anemia, Recur... |
OMIM:618852 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Decreased circulating antibody level, Chronic bronchitis, Pneumonia |
OMIM:614069 |
Preeclampsia |
|
Autoimmunity, Acute kidney injury, Abnormality of the hepatic vasculature, Chronic kidney disease... |
ORPHA:275555 |
Hemoglobin D Disease |
|
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
Angiostrongyliasis |
|
Vomiting, Nausea, Increased circulating IgA level, Increased circulating IgG level, Increased cir... |
ORPHA:74 |
Autosomal Recessive Polycystic Kidney Disease |
|
Abnormality of the intrahepatic bile duct, Cholangitis, Cholangiocarcinoma, Splenomegaly, Biliary... |
ORPHA:731 |
Chilblain Lupus |
|
Inflammatory abnormality of the skin, Discoid lupus rash, Chronic myelomonocytic leukemia, System... |
ORPHA:90280 |
Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly |
OMIM:607685 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Proteinuria, Nephrotic syndrome |
OMIM:614652 |
Legionnaires Disease |
|
Myocarditis, Pericarditis, Infectious encephalitis, Respiratory insufficiency, Endocarditis, Lymp... |
ORPHA:549 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Cholangitis, Decreased specific pneumococcal antibody level, Decreased circulating total IgM, Rec... |
ORPHA:183675 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Thrombocytosis, Macrocytic anemia, Autoimmunity, Eczema, Vomiting, Megaloblastic anemia, Decrease... |
OMIM:617780 |
Lysinuric Protein Intolerance |
|
Tubulointerstitial nephritis, Oroticaciduria, Decreased glomerular filtration rate, Decreased cir... |
ORPHA:470 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Nephrotic syndrome, Hematuria, Decreased serum complement C3, Membranoproliferative glomeruloneph... |
OMIM:608709 |
Focal Segmental Glomerulosclerosis 5 |
|
Focal segmental glomerulosclerosis, Microscopic hematuria, Stage 5 chronic kidney disease, Protei... |
OMIM:613237 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrocalcinosis, Proximal tubulopathy... |
OMIM:308990 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion... |
OMIM:603902 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Abnormal T cell morphology, Mucopolysacchariduria, Nephrotic syndrome, Macronodular cirrhosis, De... |
OMIM:215250 |
Insulin-Resistance Syndrome Type B |
|
Autoimmunity, Leukopenia, Pneumonia, Increased circulating IgA level, Enlarged ovaries, Osteoarth... |
ORPHA:2298 |
Anti-Glomerular Basement Membrane Disease |
|
Autoimmunity, Hematuria, Anemia, Arthritis, Glomerulopathy, Proteinuria, Renal insufficiency |
ORPHA:375 |
Immunodeficiency 69 |
|
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Pancytopenia |
OMIM:618963 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Hematuria, Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency |
OMIM:607832 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Eczema, Nephrotic syndrome, Lymphadenopathy, Lymphadenitis, Abscess, Rheumatoid factor positive, ... |
OMIM:618935 |
Alopecia Areata 1 |
|
Autoimmunity |
OMIM:104000 |
C3 Glomerulopathy 3 |
|
Hematuria, Renal insufficiency, Stage 5 chronic kidney disease, Glomerulonephritis |
OMIM:614809 |
Isolated Agammaglobulinemia |
|
Sinusitis, Pneumonia, Recurrent cutaneous abscess formation, Abnormality of the lymphatic system,... |
ORPHA:229717 |
Glycogen Storage Disease Ixb |
|
Diarrhea |
OMIM:261750 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Ascites, Anemia, Decreased osteoclast count, Splenomegaly, Absence of renal cortico... |
OMIM:259720 |
Diffuse Alveolar Hemorrhage |
|
Leukocytosis, Autoimmunity, Antineutrophil antibody positivity, Hematuria, Decreased serum comple... |
ORPHA:90060 |
Immunodeficiency 32B |
|
Sinusitis, Pneumonia, Bronchiectasis, Splenomegaly, Recurrent respiratory infections |
OMIM:226990 |
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Nephrotic syndrome, Hematuria, Decreased serum complement C3, Membranoproliferative glomeruloneph... |
OMIM:613913 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Hepatomegaly, Decreased circulating antibody level, Micronodular cirrhosis, Decreased liver funct... |
OMIM:301045 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Hepatomegaly, Peritonitis, Increased circulating IgA level, Lymphadenopathy, Arthritis, Intestina... |
ORPHA:343 |
Pneumocystosis |
|
Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Chronic oral candidiasis, Exertio... |
ORPHA:723 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Eosinophilia, Lymphopenia |
ORPHA:2582 |
Nephrosialidosis |
|
Ascites, Nephrotic syndrome, Bone-marrow foam cells, Nephropathy, Renal insufficiency |
OMIM:256150 |
Cold Agglutinin Disease |
|
Autoimmunity, Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormal urinary color, Diarrhea, Hemo... |
ORPHA:56425 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Immunoglobulin A Deficiency 1 |
|
Decreased circulating IgA level, Autoimmunity |
OMIM:137100 |
Pelizaeus-Merzbacher Disease |
|
Sudanophilic leukodystrophy, Cerebral dysmyelination, Reduction of oligodendroglia, Abnormal CNS ... |
OMIM:312080 |
Insulin Autoimmune Syndrome |
|
Autoimmune antibody positivity, Autoimmunity, Increased circulating antibody level, Systemic lupu... |
ORPHA:411593 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Abnormal platelet function, Acute myelomonocytic leukemia, Decreased circulat... |
ORPHA:2585 |
Nephrotic Syndrome, Type 15 |
|
Stage 5 chronic kidney disease, Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome |
OMIM:617609 |
Ige Responsiveness, Atopic |
|
Increased circulating IgE level |
OMIM:147050 |
Thrombotic Thrombocytopenic Purpura |
|
Microangiopathic hemolytic anemia, Hematuria, Acute kidney injury, Diarrhea, Reticulocytosis, Thr... |
ORPHA:54057 |
Cryoglobulinemic Vasculitis |
|
Keratoconjunctivitis sicca, Hepatomegaly, Mediastinal lymphadenopathy, Cryoglobulinemia, Hematuri... |
ORPHA:91138 |
Focal Segmental Glomerulosclerosis 6 |
|
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Hematuria, Chronic... |
OMIM:614131 |
Proteinuria, Chronic Benign |
|
Albuminuria, Proteinuria |
OMIM:618884 |
Colchicine Poisoning |
|
Myocarditis, Leukocytosis, Vomiting, Nausea, Oliguria, Diarrhea, Renal insufficiency |
ORPHA:31824 |
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Pustule, Myositis, Lymphadenopathy, Acne, Arthritis, Increased inflammatory response, Crohn's dis... |
ORPHA:69126 |
Immunodeficiency 22 |
|
Decreased proportion of CD4-positive helper T cells |
OMIM:615758 |
Hyperbilirubinemia, Shunt, Primary |
|
Hepatomegaly, Erythroid hyperplasia, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequat... |
OMIM:237800 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Keratoconjunctivitis sicca, Autoimmunity, Tubulointerstitial nephritis, Myositis, Increased circu... |
ORPHA:79078 |
Hypocomplementemic Urticarial Vasculitis |
|
Autoimmunity, Hepatomegaly, Episcleritis, Ascites, Lymphadenopathy, Hematuria, Arthritis, Splenom... |
ORPHA:36412 |
Ebola Hemorrhagic Fever |
|
Leukopenia, Hepatitis, Cough, Increased circulating antibody level, Lymphopenia, Acute pancreatit... |
ORPHA:319218 |
Focal Segmental Glomerulosclerosis 1 |
|
Focal segmental glomerulosclerosis, Proteinuria, Anemia, Stage 5 chronic kidney disease |
OMIM:603278 |
Rabies |
|
Diarrhea, Nausea and vomiting, Anorexia |
ORPHA:770 |
Burkitt Lymphoma |
|
Abnormality of the spleen, Abnormality of the ovary, Abnormality of the lymph nodes, Abnormality ... |
ORPHA:543 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Ascites, Lymphadenopathy, Anemia, Splenomegaly, Dysgammaglobulinemia |
ORPHA:100025 |
Leishmaniasis |
|
Hepatomegaly, Leukopenia, Lymphadenopathy, Rhinitis, Anemia, Splenomegaly, Abnormal macrophage mo... |
ORPHA:507 |
Omenn Syndrome |
|
Leukocytosis, Autoimmunity, Hepatomegaly, Erythroderma, Nephrotic syndrome, Pneumonia, Lymphadeno... |
ORPHA:39041 |
Galactosemia Iii |
|
Hepatomegaly, Vomiting, Splenomegaly, Aminoaciduria, Galactosuria, Jaundice |
OMIM:230350 |
Igg4-Related Retroperitoneal Fibrosis |
|
Anti-thyroid peroxidase antibody positivity, Rheumatoid factor positive, Ureteropelvic junction o... |
ORPHA:49041 |
Igg4-Related Submandibular Gland Disease |
|
Autoimmunity, Cholangitis, Prostatitis, Lymphadenopathy, Xerostomia, Retroperitoneal fibrosis, In... |
ORPHA:449432 |
Lymphatic Filariasis |
|
Lymphangiectasis, Nephrotic syndrome, Lymphadenopathy, Lymphadenitis, Abnormality of the lymphati... |
ORPHA:2035 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Lymphadenopathy, Thrombocytopenia, Increased circulating antibody level, Skin rash |
OMIM:618048 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Chronic bronchitis, Pneumonia, Bronchiectasis, Decreased circulating IgA level, Reduce... |
OMIM:242860 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent bacterial infections, Recurrent opportunistic infections, Decreased circulating IgA lev... |
ORPHA:275 |
Babesiosis |
|
Hepatomegaly, Leukopenia, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Renal insufficiency, ... |
ORPHA:108 |
Thrombocythemia 1 |
|
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Impaired collagen-induced plat... |
OMIM:187950 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Leukocytosis, Bloody diarrhea, Hemoglobinuria, Schistocytosis, Microangiopathic hemolytic anemia,... |
ORPHA:90038 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Vomiting, Nausea, Abdominal distention, Dyspepsia, Chronic diarrhea, Abdominal pain |
ORPHA:103907 |
Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly |
ORPHA:66661 |
Pseudo-Torch Syndrome 3 |
|
Leukocytosis, Lymphadenitis, Anemia, Cardiomegaly, Acute kidney injury, Congenital thrombocytopen... |
OMIM:618886 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Fechtner syndrome |
|
Neutrophil inclusion bodies, Hematuria, Nephritis, Leukocyte inclusion bodies, Stage 5 chronic ki... |
OMIM:153640 |
Hereditary Spherocytosis |
|
Hepatomegaly, Anemia, Cholelithiasis, Gout, Splenomegaly, Extramedullary hematopoiesis, Increased... |
ORPHA:822 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Leukopenia, Ascites, Biliary tract obstruction, Hematuria, Osteoarthritis, Anemia, ... |
ORPHA:77259 |
Hyperimmunoglobulin G1(A1) Syndrome |
|
Increased circulating IgA level, Increased circulating IgG level |
OMIM:144120 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Osteopetrosis, Autosomal Recessive 2 |
|
Chronic rhinitis due to narrow nasal airway, Anemia, Osteomyelitis, Hepatosplenomegaly, Mandibula... |
OMIM:259710 |
Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Decreased circulating antibody level, Lymphopenia, Splenomegaly |
OMIM:605309 |
Genetic Recurrent Myoglobinuria |
|
Myositis, Exercise-induced myoglobinuria, Dark urine, Acute kidney injury, Oliguria, Renal insuff... |
ORPHA:99845 |
Ataxia-Telangiectasia |
|
Leukemia, Decreased circulating IgA level, Hypoplasia of the thymus, Defective B cell differentia... |
OMIM:208900 |
Diffuse Cutaneous Systemic Sclerosis |
|
Autoimmunity, Dysphagia, Xerostomia, Arthritis, Oliguria, Gastroesophageal reflux, Renal insuffic... |
ORPHA:220393 |
Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Proteinuria, Nephropathy |
ORPHA:2820 |
Palmoplantar Keratoderma, Epidermolytic |
|
Increased circulating IgE level |
OMIM:144200 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Acholic stools, Hepatitis, Splenomegaly, Cirrhosis, Elevated circulating alkaline p... |
OMIM:613812 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Tubulointerstitial nephritis, Lymphadenopathy, Decreased glomerular filtration rate, Tubulointers... |
ORPHA:85450 |
Q Fever |
|
Myocarditis, Lymphadenopathy, Hepatitis, Splenomegaly, Hepatosplenomegaly, Maculopapular exanthem... |
ORPHA:781 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatosplenomegaly, Pancytopenia, Recurrent respiratory infections, Portal hypertension, Jaundice... |
ORPHA:79124 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Pneumonia, Recurrent otitis media, Bronchiolitis, Periodontitis, Reduction of neutrophil motility... |
OMIM:266265 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Inflammation of the large intestine, Intestinal obstruction, Crohn's disease, Recurrent aphthous ... |
OMIM:266600 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Normochromic anemia, Hemolytic anemia, Renal insufficiency, Proteinuria |
OMIM:245900 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Ascites, Lymphadenopathy, Decreased circulating antibody level, Decreased lymphocyt... |
OMIM:615122 |
Melioidosis |
|
Brain abscess, Abnormality of the spleen, Splenic abscess, Lung abscess, Pneumonia, Prostatitis, ... |
ORPHA:31202 |
Primary Sjögren Syndrome |
|
Tubulointerstitial nephritis, Lymphadenopathy, Normochromic anemia, Decreased circulating antibod... |
ORPHA:289390 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Eczema, Leukopenia, Monocytosis, Refractory anemia, Systemic lupus erythematosus, Bone marrow hyp... |
OMIM:616871 |
Iga Nephropathy, Susceptibility To, 1 |
|
IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria |
OMIM:161950 |
Aggressive Systemic Mastocytosis |
|
Leukocytosis, Neutropenia, Thrombocytopenia, Leukemia, Osteoporosis, Anemia, Abnormal mast cell m... |
ORPHA:98850 |
Mastocytosis, Cutaneous |
|
Cutaneous mastocytosis |
OMIM:154800 |
Immunodeficiency 35 |
|
Increased circulating IgE level |
OMIM:611521 |
Prolidase Deficiency |
|
Hepatomegaly, Eczema, Systemic lupus erythematosus, Anemia, Splenomegaly, Crusting erythematous d... |
OMIM:170100 |
Reticuloendotheliosis, X-Linked |
|
Lymphadenopathy, Hepatosplenomegaly, Anemia, Jaundice |
OMIM:312500 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Feeding difficulties in infancy, Diarrhea, Vomiting |
OMIM:606528 |
Brunner Syndrome |
|
Diarrhea |
OMIM:300615 |
Immunodeficiency 67 |
|
Increased circulating IgE level, Transient neutropenia, Liver abscess |
OMIM:607676 |
Asthma, Short Stature, And Elevated Iga |
|
Increased circulating IgA level |
OMIM:208600 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal tubular atrophy, Nephrocalcinosis, Proximal tubulopathy, Tubulointerstitial fibrosis, Glome... |
OMIM:310468 |
Cyanosis And Hepatic Disease |
|
Dyspnea, Hepatitis |
OMIM:219400 |
Avian Influenza |
|
Productive cough, Hypoxemia, Infectious encephalitis, Leukopenia, Pneumonia, Tachypnea, Pneumotho... |
ORPHA:454836 |
Nephrotic Syndrome, Type 9 |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:615573 |
Branchiootorenal Syndrome 2 |
|
Renal dysplasia, Renal insufficiency |
OMIM:610896 |
Complement Component 4B Deficiency |
|
Chronic active hepatitis |
OMIM:614379 |
Coproporphyria, Hereditary |
|
Hepatomegaly, Constipation, Vomiting, Splenomegaly, Increased urinary porphobilinogen, Diarrhea, ... |
OMIM:121300 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Bone-marrow foam cells, Sea-blue histiocytosis, Splenomegaly |
OMIM:607616 |
Beta-Thalassemia |
|
Hepatomegaly, Respiratory insufficiency, Hepatitis, Anemia, Abnormal hemoglobin, Cholelithiasis, ... |
ORPHA:848 |
Combined Malonic And Methylmalonic Aciduria |
|
Diarrhea, Vomiting |
OMIM:614265 |
Good Syndrome |
|
Sinusitis, Mediastinal lymphadenopathy, Bronchiectasis, Decreased circulating antibody level, Ane... |
ORPHA:169105 |
Postinfectious Vasculitis |
|
Inflammatory abnormality of the skin, Bacterial endocarditis, Cryoglobulinemia, Pneumonia, Increa... |
ORPHA:48435 |
Fanconi Anemia, Complementation Group G |
|
Leukemia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:614082 |
Transcobalamin Ii Deficiency |
|
Macrocytic anemia, Neutropenia, Methylmalonic aciduria, Vomiting, Decreased circulating IgA level... |
OMIM:275350 |
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia |
|
Clinodactyly of the 5th finger, Cutaneous mastocytosis, Short foot, Joint contracture of the 5th ... |
OMIM:248910 |
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease |
|
Chronic kidney disease, Abnormal tubulointerstitial morphology, Nephropathy, Cholestatic liver di... |
OMIM:602114 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Splenomegaly |
OMIM:619175 |
Eosinophilopenia |
|
Autoimmunity, Allergic rhinitis, Decreased eosinophil count |
OMIM:131430 |
Felty Syndrome |
|
Sinusitis, Autoimmunity, Hepatomegaly, Neutropenia, Pericarditis, Episcleritis, Synovitis, Lympha... |
ORPHA:47612 |
Acquired Idiopathic Sideroblastic Anemia |
|
Leukocytosis, Thrombocytosis, Hepatomegaly, Neutropenia, Normocytic anemia, Megaloblastic erythro... |
ORPHA:75564 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Peritonitis, ... |
ORPHA:567548 |
Majeed Syndrome |
|
Inflammatory abnormality of the skin, Leukocytosis, Hepatomegaly, Abnormal inflammatory response,... |
ORPHA:77297 |
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
|
Eczema, Bronchiectasis, Recurrent otitis media, Keratitis, Increased circulating IgE level, Recur... |
OMIM:618523 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Conjunctivitis, Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Skin rash, Thro... |
OMIM:603552 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin |
ORPHA:231401 |
Hyperuricemic Nephropathy, Familial Juvenile, 3 |
|
Renal insufficiency, Nephropathy |
OMIM:614227 |
Neuraminidase Deficiency |
|
Hepatomegaly, Ascites, Vacuolated lymphocytes, Urinary excretion of sialylated oligosaccharides, ... |
OMIM:256550 |
Solitary Rectal Ulcer Syndrome |
|
Bloody mucoid diarrhea, Bloody diarrhea, Tenesmus, Episodic abdominal pain, Intermittent diarrhea... |
ORPHA:209964 |
Wilson Disease |
|
Hepatomegaly, Hepatitis, Anemia, Arthritis, Acute hepatitis, Splenomegaly, Cirrhosis, Hepatic ste... |
ORPHA:905 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci |
OMIM:233670 |
Mucous Membrane Pemphigoid |
|
Autoimmunity |
ORPHA:46486 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Neutropenia, Leukopenia, Monocytosis, Hypoplasia of the thymus, Anemia, Erythroid h... |
OMIM:612541 |
Immunodeficiency 33 |
|
Increased circulating IgA level, Decreased circulating total IgM |
OMIM:300636 |
Retinitis Pigmentosa 59 |
|
Hepatomegaly, Micropenis, Renal insufficiency |
OMIM:613861 |
Felty Syndrome |
|
Neutropenia, Splenomegaly |
OMIM:134750 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Splenomegaly, Thrombocytopenia, Renal insufficiency |
ORPHA:79312 |
Dominant Beta-Thalassemia |
|
Hypochromic microcytic anemia, Hepatic fibrosis, Hepatocellular carcinoma, Persistence of hemoglo... |
ORPHA:231226 |
Unclassified Myelodysplastic Syndrome |
|
Leukocytosis, Autoimmunity, Acute myeloid leukemia, Bone marrow hypocellularity |
ORPHA:98827 |
Mucopolysaccharidosis-Plus Syndrome |
|
Renal tubular atrophy, Hepatomegaly, Focal segmental glomerulosclerosis, Neutropenia, Leukopenia,... |
OMIM:617303 |
Autoimmune Hemolytic Anemia |
|
Autoimmunity, Splenomegaly, Abnormal urinary color, Hemolytic anemia, Abnormal leukocyte morphology |
ORPHA:98375 |
Schimke Immunoosseous Dysplasia |
|
Abnormal T cell morphology, Focal segmental glomerulosclerosis, Neutropenia, Nephrotic syndrome, ... |
OMIM:242900 |
Harderoporphyria |
|
Hemolytic anemia, Hepatomegaly, Prolonged neonatal jaundice, Vomiting, Splenomegaly, Increased ur... |
OMIM:618892 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Reticulocytosis, Anemia of inadequate ... |
OMIM:613673 |
Autoimmune Polyendocrinopathy Type 4 |
|
Keratoconjunctivitis sicca, Macrocytic anemia, Tubulointerstitial nephritis, Leukopenia, Aplasia/... |
ORPHA:227990 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Peritonitis, ... |
ORPHA:656 |
Coach Syndrome 3 |
|
Renal tubular atrophy, Renal interstitial inflammation, Portal fibrosis, Renal interstitial fibro... |
OMIM:619113 |
Immunodeficiency 82 With Systemic Inflammation |
|
Lymphadenopathy, Hepatitis, Splenomegaly, Gastritis, Crohn's disease, Decreased circulating total... |
OMIM:619381 |
Red Cell Phospholipid Defect With Hemolysis |
|
Reticulocytosis, Intermittent jaundice, Splenomegaly |
OMIM:179700 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... |
OMIM:608203 |
Agammaglobulinemia, X-Linked |
|
Sinusitis, Enteroviral hepatitis, Agammaglobulinemia, Infectious encephalitis, Pyoderma, Pneumoni... |
OMIM:300755 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Hypochromia, Anemia, Splenomegaly, Hypogonadism, Poikilocytosis, Decreased mean cor... |
OMIM:615234 |
Senior-Loken Syndrome 1 |
|
Nephronophthisis, Polyuria, Anemia, Stage 5 chronic kidney disease |
OMIM:266900 |
Galloway-Mowat Syndrome 2, X-Linked |
|
Minimal change glomerulonephritis, Nephrotic syndrome, Glomerular sclerosis, Stage 5 chronic kidn... |
OMIM:301006 |
Chronic Beryllium Disease |
|
Reticulonodular pattern on pulmonary HRCT, Mediastinal lymphadenopathy, Lymphocytic interstitial ... |
ORPHA:133 |
Lymphangiectasia, Intestinal |
|
Decreased circulating IgG level, Lymphopenia |
OMIM:152800 |
Autoimmune Polyendocrinopathy Type 3 |
|
Keratoconjunctivitis sicca, Macrocytic anemia, Autoimmune hypoparathyroidism, Tubulointerstitial ... |
ORPHA:227982 |
Hepatocellular Carcinoma |
|
Subacute progressive viral hepatitis, Micronodular cirrhosis, Hepatocellular carcinoma |
OMIM:114550 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vii |
|
Diarrhea, Constipation |
OMIM:615548 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Increased circulating IgA level, Reduced natural killer cell activity, Dysgammaglobulinemia, Incr... |
OMIM:300291 |
Lactase Deficiency, Congenital |
|
Diarrhea |
OMIM:223000 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Eczema, Desquamative interstitial pneumonitis, Interstitial pneumonitis, Neutropenia in presence ... |
OMIM:615952 |
Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia |
OMIM:619523 |
Beta-Thalassemia Major |
|
Hepatomegaly, Anisopoikilocytosis, Hypochromic microcytic anemia, Hepatic fibrosis, Hepatocellula... |
ORPHA:231214 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Abnormality of serum cytokine level, Increased circulating interleukin 6, Neutropenia, Reduced na... |
ORPHA:540 |
Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Neutropenia |
OMIM:266130 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Abnormality of the intrahepatic bile duct, Inflammation of the large intestine, Interface hepatit... |
ORPHA:562639 |
Pauci-Immune Glomerulonephritis |
|
Macroscopic hematuria, Tubulointerstitial nephritis, Decreased glomerular filtration rate, Glomer... |
ORPHA:93126 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
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Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Acute myeloi... |
OMIM:619041 |
Myh9-Related Disease |
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Neutrophil inclusion bodies, Increased mean platelet volume, Nephritis, Giant platelets, Congenit... |
ORPHA:182050 |
Rosaï-Dorfman Disease |
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Lymphadenopathy, Dysgammaglobulinemia, Anemia |
ORPHA:158014 |
Chronic Myeloid Leukemia |
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Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... |
ORPHA:521 |
Nephrotic Syndrome, Type 2 |
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Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:600995 |
Focal Facial Dermal Dysplasia Type Iv |
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Abnormal mast cell morphology |
ORPHA:398189 |
Senior-Loken Syndrome 4 |
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Nephronophthisis, Polyuria, Anemia, Stage 5 chronic kidney disease |
OMIM:606996 |
Congenital Bile Acid Synthesis Defect Type 2 |
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