Autoimmune Disease |
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Autoimmunity, Autoimmune antibody positivity |
OMIM:109100 |
Complement Component 4, Partial Deficiency Of |
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Systemic lupus erythematosus |
OMIM:120790 |
Immunodeficiency 24 |
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Decreased specific pneumococcal antibody level, Defective T cell proliferation, Decreased circula... |
OMIM:615897 |
Pemphigus Vulgaris, Familial |
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Autoimmunity, Autoimmune antibody positivity |
OMIM:169610 |
Autoimmune Lymphoproliferative Syndrome |
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Platelet antibody positive, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulat... |
OMIM:601859 |
Histiocytosis, Familial Lipochrome |
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Increased alpha-globulin, Polyarticular arthritis, Increased circulating antibody level, Histiocy... |
OMIM:235900 |
Immunodeficiency 64 |
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Abnormal CD4:CD8 ratio, Anti-thyroid peroxidase antibody positivity, Defective T cell proliferati... |
OMIM:618534 |
Immunodeficiency 25 |
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Erythroderma, Complete or near-complete absence of specific antibody response to tetanus vaccine,... |
OMIM:610163 |
Immunodeficiency, Common Variable, 5 |
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Chronic decreased circulating total IgG, Antinuclear antibody positivity |
OMIM:613495 |
Tn Polyagglutination Syndrome |
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Autoimmunity |
OMIM:300622 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
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Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... |
OMIM:616452 |
Immunodeficiency 72 With Autoinflammation |
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Increased B cell count, Herpes simplex encephalitis, Increased proportion of memory T cells, Bron... |
OMIM:618982 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
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Pneumonia, Increased circulating antibody level, Lymphopenia, Plasmacytosis, Glomerulonephritis, ... |
OMIM:247800 |
Immunoerythromyeloid Hypoplasia |
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Decreased circulating IgG level, Erythroid hypoplasia |
OMIM:242880 |
Immunodeficiency 89 And Autoimmunity |
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Hypochromic microcytic anemia, Bronchiectasis, Increased circulating IgA level, Increased circula... |
OMIM:619632 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
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Fluctuating splenomegaly, Bronchiectasis, Neutropenia in presence of anti-neutropil antibodies, R... |
OMIM:619220 |
Complement Component 8 Deficiency, Type I |
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Systemic lupus erythematosus |
OMIM:613790 |
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
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Atopic dermatitis, Decreased proportion of class-switched memory B cells, Increased circulating i... |
OMIM:618944 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
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Autoimmunity, Splenomegaly, Increased proportion autoreactive unresponsive CD21-/low B cells, Hep... |
OMIM:615559 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
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Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... |
OMIM:603909 |
Retinal Telangiectasia And Hypogammaglobulinemia |
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Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Hashimoto Thyroiditis |
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Hashimoto thyroiditis, Autoimmune antibody positivity |
OMIM:140300 |
Lupus Erythematosus Tumidus |
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Anti-La/SS-B antibody positivity, Autoimmune antibody positivity, Antinuclear antibody positivity... |
ORPHA:90283 |
Lymphoid System Deterioration, Progressive |
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Abnormal T cell morphology, Decreased circulating IgG level, Lymphopenia, Decreased circulating t... |
OMIM:247630 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
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Decreased circulating IgG level, T lymphocytopenia |
OMIM:242870 |
Combined Cellular And Humoral Immune Defects With Granulomas |
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B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia |
OMIM:233650 |
Immunodeficiency 27A |
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Thrombocytosis, Leukocytosis, Pneumonia, Salmonella osteomyelitis, Anemia, Increased circulating ... |
OMIM:209950 |
Combined Immunodeficiency, X-Linked |
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Sinusitis, Pneumonia, Decreased circulating IgG level, Otitis media, Decreased proportion of CD4-... |
OMIM:312863 |
Immunoglobulin A Deficiency 2 |
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Decreased circulating IgA level, Autoimmunity, Abnormal lymphocyte morphology |
OMIM:609529 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
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Sinusitis, B lymphocytopenia, Inflammatory abnormality of the skin, Autoimmunity, Anti-thyroid pe... |
ORPHA:277 |
Pulmonary Nodular Lymphoid Hyperplasia, Familial |
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Increased circulating antibody level, Rheumatoid arthritis, Antinuclear antibody positivity, Syst... |
OMIM:178610 |
Pa Polymorphism Of Alpha-2-Globulin |
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Abnormal immunoglobulin level |
OMIM:260100 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
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Autoimmunity, Recurrent otitis media, Splenomegaly, Increased circulating antibody level, Autoimm... |
OMIM:618495 |
Immunodeficiency, Common Variable, 3 |
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Decreased proportion of class-switched memory B cells, Reduced isohemagglutinin level, Decreased ... |
OMIM:613493 |
Hepatic Venoocclusive Disease With Immunodeficiency |
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Decreased circulating IgG level |
OMIM:235550 |
Lymphoma, Hodgkin, Classic |
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Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
Immunodeficiency 86 |
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Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level |
OMIM:619549 |
Complement Component C1R/C1S Deficiency |
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Autoimmunity, Discoid lupus rash, Nephritis, Arthritis, Complement deficiency |
OMIM:216950 |
Immunodeficiency 14B, Autosomal Recessive |
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Thrombocytosis, Leukocytosis, B lymphocytopenia, Inflammation of the large intestine, Polyarticul... |
OMIM:619281 |
Immunodeficiency With Hyper-Igm, Type 3 |
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Neutropenia, Decreased circulating IgA level, Impaired memory B cell generation, Decreased circul... |
OMIM:606843 |
Neutropenia, Chronic Familial |
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Periodontitis, Increased circulating antibody level, Neutropenia |
OMIM:162700 |
Chilblain Lupus |
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Inflammatory abnormality of the skin, Discoid lupus rash, Chronic myelomonocytic leukemia, System... |
ORPHA:90280 |
Immunodeficiency, Common Variable, 4 |
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Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating total IgM, Complete o... |
OMIM:613494 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
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Autoimmunity, Impaired lymphocyte transformation with phytohemagglutinin, Decreased specific pneu... |
OMIM:617006 |
Hyperimmunoglobulin G1(A1) Syndrome |
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Increased circulating IgA level, Increased circulating IgG level |
OMIM:144120 |
Immunodeficiency 14A, Autosomal Dominant |
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Decreased specific pneumococcal antibody level, Increased proportion of transitional B cells, Dec... |
OMIM:615513 |
Insulin Autoimmune Syndrome |
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Arthralgia/arthritis, Autoimmunity, Systemic lupus erythematosus, Autoimmune antibody positivity,... |
ORPHA:411593 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
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Leukemia, Monoclonal immunoglobulin M proteinemia, Impaired lymphocyte transformation with phytoh... |
OMIM:153600 |
Immunodeficiency, Common Variable, 14 |
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Psoriasiform dermatitis, Decreased proportion of class-switched memory B cells, Decreased specifi... |
OMIM:617765 |
Immunodeficiency, Common Variable, 1 |
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B lymphocytopenia, Decreased proportion of class-switched memory B cells, Pneumonia, Neutropenia ... |
OMIM:607594 |
Immunodeficiency 11 |
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Decreased circulating antibody level, Pneumonia |
OMIM:615206 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
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Abnormally low T cell receptor excision circle level, B lymphocytopenia, Decreased circulating Ig... |
OMIM:618987 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
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Neutropenia, Erythroderma, Increased circulating IgA level, Decreased lymphocyte proliferation in... |
ORPHA:169154 |
Agammaglobulinemia 8, Autosomal Dominant |
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B lymphocytopenia, Agammaglobulinemia, Recurrent otitis media |
OMIM:616941 |
Cernunnos-Xlf Deficiency |
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B lymphocytopenia, Autoimmunity, Decreased circulating antibody level, Anemia, Lymphopenia, Throm... |
ORPHA:169079 |
Severe Combined Immunodeficiency, X-Linked |
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Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Pneumonia, Decrea... |
OMIM:300400 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
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Autoimmunity, Neutropenia, Monocytosis, Leukemia, Decreased lymphocyte apoptosis, Splenomegaly, A... |
OMIM:614470 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
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Atopic dermatitis, B lymphocytopenia, Sinusitis, Decreased specific antibody response to polysacc... |
ORPHA:70593 |
Systemic Lupus Erythematosus 16 |
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Systemic lupus erythematosus |
OMIM:614420 |
Igg4-Related Aortitis |
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Autoimmunity, Increased circulating IgG4 level, Cytoplasmic antineutrophil antibody positivity, I... |
ORPHA:449400 |
Immunodeficiency With Hyper-Igm, Type 5 |
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Decreased circulating IgA level, Decreased circulating IgG level, Epididymitis, Impaired Ig class... |
OMIM:608106 |
C1Q Deficiency |
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Autoimmunity, Systemic lupus erythematosus |
OMIM:613652 |
Caspase 8 Deficiency |
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Eczema, Pneumonia, Decreased circulating IgA level, Decreased circulating IgG level, Reduced CD95... |
OMIM:607271 |
Immunodeficiency 60 And Autoimmunity |
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Bronchiectasis, Decreased circulating IgA level, Decreased circulating IgG level, Perinuclear ant... |
OMIM:618394 |
Autoinflammation With Arthritis And Dyskeratosis |
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Keratoconjunctivitis sicca, Polyarticular arthritis, Increased circulating IgA level, Increased c... |
OMIM:617388 |
Complement Component C1S Deficiency |
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Hashimoto thyroiditis, Systemic lupus erythematosus |
OMIM:613783 |
Immunodeficiency 50 |
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Eczema, Decreased circulating antibody level, Neutropenia, Lymphopenia |
OMIM:300988 |
Immunodeficiency, Common Variable, 11 |
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Decreased proportion of class-switched memory B cells, Inflammation of the large intestine, Decre... |
OMIM:615767 |
Masp2 Deficiency |
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Complement deficiency, Systemic lupus erythematosus, Recurrent pneumonia, Ulcerative colitis |
OMIM:613791 |
Autoimmune Hepatitis |
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Inflammation of the large intestine, Sclerosing cholangitis, Antineutrophil antibody positivity, ... |
ORPHA:2137 |
Sting-Associated Vasculopathy, Infantile-Onset |
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Thrombocytosis, Pustule, Leukopenia, Myositis, Increased circulating IgA level, Anemia, Increased... |
OMIM:615934 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
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B lymphocytopenia, Pneumonia, Arthritis, Otitis media, Panhypogammaglobulinemia, T lymphocytopeni... |
OMIM:601457 |
Immunodeficiency 70 |
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B lymphocytopenia, Decreased circulating total IgA, Decreased circulating total IgG, Decreased ci... |
OMIM:618969 |
Transcobalamin Deficiency |
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Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulat... |
ORPHA:859 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
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Decreased proportion of naive T cells, Pneumonia, Decreased circulating IgA level, Abnormal immun... |
ORPHA:276 |
Autoimmune Lymphoproliferative Syndrome |
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Autoimmunity, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, N... |
ORPHA:3261 |
Immunodeficiency, Common Variable, 2 |
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Autoimmunity, Bronchiectasis, Decreased circulating IgA level, Impaired T cell function, Decrease... |
OMIM:240500 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
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Psoriasiform dermatitis, Eczema, Bronchiectasis, Decreased circulating IgA level, Decreased circu... |
OMIM:616100 |
Immune Deficiency, Familial Variable |
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Decreased circulating IgA level, Decreased circulating IgG level |
OMIM:146830 |
Immunodeficiency 85 And Autoimmunity |
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Eczema, Erythroderma, Decreased circulating IgA level, Oligoarthritis, Decreased circulating IgG ... |
OMIM:619510 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
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Autoimmunity, Decreased circulating IgA level, Decreased circulating IgG level, Chronic oral cand... |
ORPHA:275 |
Ige Responsiveness, Atopic |
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Increased circulating IgE level, Eczema, Allergic rhinitis |
OMIM:147050 |
Immunodeficiency, Common Variable, 7 |
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Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... |
OMIM:614699 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
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Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Increased circulati... |
OMIM:202700 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
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Neutropenia, Leukopenia, Anemia, Splenomegaly, Increased circulating antibody level, Extramedulla... |
OMIM:615285 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
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Autoimmunity, Recurrent otitis media, Hepatitis, Systemic lupus erythematosus, Splenomegaly, Auto... |
ORPHA:444463 |
Cirrhosis, Familial |
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Chronic active hepatitis, Increased circulating antibody level, Hepatitis |
OMIM:118900 |
Immunoglobulin A Deficiency 1 |
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Decreased circulating IgA level, Autoimmunity |
OMIM:137100 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
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Autoimmunity, Abnormal B cell count, Lymphadenitis, Decreased circulating IgA level, Decreased ci... |
ORPHA:331206 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
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Thrombocytosis, Macrocytic anemia, Eczema, Autoimmunity, Megaloblastic anemia, Decreased circulat... |
OMIM:617780 |
Pgm3-Cdg |
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Autoimmunity, Eczema, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Chronic ... |
ORPHA:443811 |
Immunodeficiency 92 |
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Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... |
OMIM:619652 |
Deafness, Neural, With Atypical Atopic Dermatitis |
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Late onset atopic dermatitis, Increased circulating IgE level |
OMIM:221700 |
Immunodeficiency 61 |
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Agammaglobulinemia, Recurrent sinusitis, Arthritis, Recurrent otitis media |
OMIM:300310 |
X-Linked Lymphoproliferative Disease |
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Myocarditis, Autoimmunity, Inflammation of the large intestine, Decreased circulating antibody le... |
ORPHA:2442 |
Immunodeficiency 81 |
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Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs... |
OMIM:619374 |
Mu-Heavy Chain Disease |
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Abnormal B cell count, Osteoporosis, Anemia, Splenomegaly, Increased circulating antibody level, ... |
ORPHA:100024 |
Subcorneal Pustular Dermatosis |
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Autoimmunity, Pustule, Systemic lupus erythematosus, Increased circulating antibody level, Rheuma... |
ORPHA:48377 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
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Inflammation of the large intestine, Interface hepatitis, Granulomatous cholangitis, Antimitochon... |
ORPHA:562639 |
Complement Component 2 Deficiency |
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Systemic lupus erythematosus |
OMIM:217000 |
Lymphoproliferative Syndrome, X-Linked, 1 |
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Neutropenia, Infectious encephalitis, Reduced natural killer cell activity, Decreased circulating... |
OMIM:308240 |
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
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Polyarticular arthritis, Synovitis, Rheumatoid factor positive, Symmetric polyarthritis, Osteopen... |
ORPHA:85435 |
Immunodeficiency With Hyper-Igm, Type 2 |
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Decreased circulating IgA level, Decreased circulating IgG level, Impaired Ig class switch recomb... |
OMIM:605258 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
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Erythroderma, Decreased circulating total IgA, Pneumonia, Chronic oral candidiasis, Hepatitis, De... |
ORPHA:169160 |
Lymphoproliferative Syndrome 1 |
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Autoimmunity, Leukopenia, Stomatitis, Decreased circulating IgG level, Decreased circulating anti... |
OMIM:613011 |
Immunodeficiency 15A |
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Recurrent otitis media, Acne inversa, Chronic mucocutaneous candidiasis, Decreased proportion of ... |
OMIM:618204 |
Whim Syndrome 1 |
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Decreased circulating IgG level, Decreased circulating antibody level, Neutropenia, Bronchiectasis |
OMIM:193670 |
Candidiasis, Familial, 2 |
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Increased circulating IgE level, Chronic oral candidiasis, Hypereosinophilia, Decreased serum iron |
OMIM:212050 |
Agammaglobulinemia 1, Autosomal Recessive |
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Sinusitis, B lymphocytopenia, Agammaglobulinemia, Neutropenia, Pneumonia, Bronchiectasis, Recurre... |
OMIM:601495 |
Panniculitis-Induced Localized Lipodystrophy |
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Inflammatory abnormality of the skin, Abnormal immunoglobulin level, Antinuclear antibody positivity |
ORPHA:90159 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
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Thrombocytosis, Cystic acne, Sterile arthritis, Sterile abscess, Elevated circulating C-reactive ... |
OMIM:604416 |
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
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Eczema, Bronchiectasis, Recurrent otitis media, Craniosynostosis, Joint contracture of the hand, ... |
OMIM:618523 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
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Increased circulating IgA level, Thrombocytopenia, Glomerulonephritis |
OMIM:314000 |
Neurodegeneration, Infantile-Onset, Biotin-Responsive |
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Decreased circulating IgG level |
OMIM:618973 |
Eosinophilopenia |
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Autoimmunity, Allergic rhinitis, Decreased eosinophil count |
OMIM:131430 |
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
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Pustule, Myositis, Acne, Arthritis, Increased inflammatory response, Crohn's disease, Increased c... |
ORPHA:69126 |
Immunodeficiency 23 |
|
Eczema, Allergic rhinitis, Neutropenia, Bronchiectasis, Abscess, Increased circulating IgG level,... |
OMIM:615816 |
Interstitial Granulomatous Dermatitis With Arthritis |
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Inflammatory abnormality of the skin, Rheumatoid arthritis, Elevated circulating C-reactive prote... |
ORPHA:79099 |
Asthma, Short Stature, And Elevated Iga |
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Increased circulating IgA level |
OMIM:208600 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
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B lymphocytopenia, Neutropenia, Leukopenia, Partial absence of specific antibody response to Haem... |
OMIM:618986 |
Immunodeficiency 57 With Autoinflammation |
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B lymphocytopenia, Inflammation of the large intestine, Bronchiectasis, Decreased circulating ant... |
OMIM:618108 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
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Eczema, Hypoplasia of the thymus, Reduced antigen-specific T cell proliferation, Reduced delayed ... |
OMIM:617241 |
Macrophage Activation Syndrome |
|
Autoimmunity, Increased circulating interleukin 6, Neutropenia, Hepatitis, Anemia, Systemic lupus... |
ORPHA:158061 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Limited elbow flexion, Leukocytosis, Limitation of movement at ankles, Increased circulating IgG ... |
ORPHA:206594 |
Combined Immunodeficiency Due To Dock8 Deficiency |
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Atopic dermatitis, B lymphocytopenia, Pneumonia, Chronic otitis media, Increased circulating IgE ... |
ORPHA:217390 |
Immunodeficiency, Common Variable, 10 |
|
Anti-thyroid peroxidase antibody positivity, Psoriasiform dermatitis, Decreased circulating IgA l... |
OMIM:615577 |
Systemic Lupus Erythematosus |
|
Lupus nephritis, Pericarditis, Leukopenia, Nephritis, Systemic lupus erythematosus, Arthritis, Ma... |
OMIM:152700 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Sinusitis, Autoimmunity, Neutropenia, Lack of T cell function, Neutropenia in presence of anti-ne... |
ORPHA:572 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Inflammation of the large intestine, Splenomegaly, Uveitis, Decreased circulating total IgM, Panc... |
OMIM:614700 |
Schnitzler Syndrome |
|
Leukocytosis, Anemia, Arthritis, Splenomegaly, Increased circulating IgM level, Skin rash, Increa... |
ORPHA:37748 |
Immunodeficiency, Common Variable, 6 |
|
Decreased specific pneumococcal antibody level, Complete or near-complete absence of specific ant... |
OMIM:613496 |
Boutonneuse Fever |
|
Leukopenia, Increased circulating IgG level, Increased circulating IgM level, Maculopapular exant... |
ORPHA:83313 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Bronchiectasis, Decreased circulating antibody level, Recurrent skin infections, Recurrent pneumo... |
OMIM:616576 |
Diabetes Mellitus, Ketosis-Prone |
|
Autoimmunity |
OMIM:612227 |
Lymphangiectasia, Intestinal |
|
Decreased circulating IgG level, Lymphopenia, Neonatal hypoproteinemia |
OMIM:152800 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Eczematoid dermatitis, Craniosynostosis, Chronic mucocutaneous candidiasis, Osteopenia, Joint hyp... |
OMIM:147060 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Decreased proportion of class-switched memory B cells, Decreased proportion of marginal zone B ce... |
OMIM:619375 |
Immunodeficiency 36 |
|
Chronic lymphatic leukemia, Autoimmunity, Bronchiectasis, Decreased circulating antibody level, S... |
OMIM:616005 |
Pyoderma Gangrenosum |
|
Inflammation of the large intestine, Pustule, Myositis, Increased circulating antibody level, Rhe... |
ORPHA:48104 |
Immunodeficiency 37 |
|
Infectious encephalitis, Decreased circulating antibody level, Decreased proportion of central me... |
OMIM:616098 |
Immunodeficiency, Common Variable, 13 |
|
Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circulating antibody level |
OMIM:616873 |
Immunodeficiency 43 |
|
Hypoproteinemia, Decreased circulating IgG level, Hypoalbuminemia, Bronchiectasis |
OMIM:241600 |
Simple Cryoglobulinemia |
|
Chronic lymphatic leukemia, Pericarditis, Monoclonal elevation of circulating IgA, Monoclonal imm... |
ORPHA:91139 |
Kimura Disease |
|
Increased circulating IgE level, Eosinophilia |
ORPHA:482 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Neutropenia, Stomatitis, Decreased circulating IgA level, Chronic hepatitis, Impaired memory B ce... |
OMIM:308230 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Pustule, Lack of T... |
ORPHA:35078 |
Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Anti-glutamic acid decarboxylase antibody positivity, Eczema, Neutropenia, Erythroderma, Glomerul... |
OMIM:304790 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Thrombocytopenia, Increased circulating antibody level, Skin rash |
OMIM:618048 |
Immunodeficiency 7 |
|
Autoimmunity |
OMIM:615387 |
Palmoplantar Keratoderma, Epidermolytic |
|
Increased circulating IgE level |
OMIM:144200 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD4-pos... |
OMIM:611926 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Sinusitis, B lymphocytopenia, Pneumonia, Decreased circulating IgA level, Reduced red cell adenos... |
OMIM:102700 |
Brucellosis |
|
Myocarditis, Knee osteoarthritis, Rheumatoid factor positive, Septic arthritis, Splenomegaly, Hyp... |
ORPHA:1304 |
Iga Pemphigus |
|
Pustule, Increased circulating IgA level, Neutrophilic infiltration of the skin, Autoimmune antib... |
ORPHA:555905 |
Drug-Induced Lupus Erythematosus |
|
Pericarditis, Elevated circulating creatine kinase concentration, Decreased serum complement C4, ... |
ORPHA:231111 |
Erythema Elevatum Diutinum |
|
Increased circulating antibody level, Skin rash |
ORPHA:90000 |
Immunodeficiency 35 |
|
Increased circulating IgE level |
OMIM:611521 |
Oligoarticular Juvenile Idiopathic Arthritis |
|
Autoimmunity, Oligoarthritis, Knee osteoarthritis, Joint hypermobility, Uveitis, Rheumatoid arthr... |
ORPHA:85410 |
Selective Igm Deficiency |
|
Autoimmunity, Non-infectious meningitis, Neutropenia in presence of anti-neutropil antibodies, Fa... |
ORPHA:331235 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Autoimmunity, Pericarditis, Anterior uveitis, Splenomegaly, Juvenile rheumatoid arthritis, Skin r... |
ORPHA:85414 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Eczema, Leukopenia, Monocytosis, Refractory anemia, Systemic lupus erythematosus, Bone marrow hyp... |
OMIM:616871 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
B lymphocytopenia, Autoimmunity, Interstitial pneumonitis, Neutropenia in presence of anti-neutro... |
ORPHA:231154 |
Igg4-Related Kidney Disease |
|
Tubulointerstitial nephritis, Rheumatoid factor positive, Eosinophilia, Elevated circulating C-re... |
ORPHA:449395 |
Insulin-Resistance Syndrome Type B |
|
Autoimmunity, Pneumonia, Leukopenia, Increased circulating IgA level, Abnormal circulating lipid ... |
ORPHA:2298 |
C3 Glomerulopathy |
|
Autoimmunity, C3 nephritic factor positivity, Decreased serum complement C4, Elevated circulating... |
ORPHA:329918 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Hypoproteinemia, Decreased circulating IgG level, Neutropenia, Hypoalbuminemia |
OMIM:600351 |
Rheumatoid Arthritis |
|
Polyarticular arthritis, Rheumatoid factor positive, Rheumatoid arthritis, Anti-citrullinated pro... |
OMIM:180300 |
Igg4-Related Submandibular Gland Disease |
|
Cholangitis, Autoimmunity, Prostatitis, Increased circulating IgG4 level, Increased circulating I... |
ORPHA:449432 |
Tempi Syndrome |
|
Polycythemia, Increased hematocrit, Increased circulating IgG level |
ORPHA:284227 |
Immunodeficiency 33 |
|
Increased circulating IgA level, Decreased circulating total IgM |
OMIM:300636 |
Thymoma |
|
Autoimmunity, Imbalanced hemoglobin synthesis, Abnormal lymphocyte proliferation, Anti-acetylchol... |
ORPHA:99867 |
Adult Idiopathic Neutropenia |
|
Neutropenia, Monocytosis, Increased circulating IgM level, Lymphopenia, Monocytopenia, Recurrent ... |
ORPHA:2688 |
Igg4-Related Thyroid Disease |
|
Anti-thyroid peroxidase antibody positivity, Autoimmunity, Increased circulating IgG4 level, Thyr... |
ORPHA:64744 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Cholangitis, Autoimmunity, Decreased specific pneumococcal antibody level, Decreased circulating ... |
ORPHA:183675 |
Secondary Non-Traumatic Avascular Necrosis |
|
Autoimmunity, Systemic lupus erythematosus, Rheumatoid arthritis, Limitation of joint mobility |
ORPHA:399180 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, B lymphocytopenia, Eczema, Psoriasiform dermatitis, Erythroderma, Decreased cir... |
OMIM:606367 |
Riddle Syndrome |
|
Decreased circulating IgG level |
OMIM:611943 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Synovitis, Decreased serum complement C4, Elevated circulating creatinine concentration, Arthriti... |
ORPHA:567544 |
Angiostrongyliasis |
|
Stiff neck, Increased circulating IgA level, Increased circulating IgG level, Increased circulati... |
ORPHA:74 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Autoimmunity, Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly |
ORPHA:228312 |
Immunoneurologic Disorder, X-Linked |
|
Decreased circulating IgG2 level |
OMIM:300076 |
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM |
OMIM:300861 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating IgG level, Neutropenia, Decreased circulating total IgM |
ORPHA:2643 |
Inflammatory Pseudotumor Of The Liver |
|
Increased hepatitis B virus antibody level, Autoimmune antibody positivity |
ORPHA:90003 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Arthritis, Eosinophilia, Lymphopenia, Limitation of joint mobility |
ORPHA:2582 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Autoimmunity, Panniculitis, Anemia, Splenomegaly, Increased circulating ferritin concentration, H... |
OMIM:618398 |
Immunodeficiency 31C |
|
Autoimmunity, Eczema, Chronic mucocutaneous candidiasis, Osteopenia, Lymphopenia, Autoimmune hemo... |
OMIM:614162 |
Isolated Agammaglobulinemia |
|
Sinusitis, Autoimmunity, Pneumonia, Recurrent cutaneous abscess formation, Abnormal lymphocyte mo... |
ORPHA:229717 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Increased circulating IgE level, Eczema, Thyroiditis |
OMIM:618985 |
Tularemia |
|
Brain abscess, Leukocytosis, Pneumonia, Anemia, Increased circulating antibody level, Otitis medi... |
ORPHA:3392 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Leukocytosis, Increased proportion of CD4-positive T cells, Increased circulating IgA level, Pann... |
OMIM:617099 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Sinusitis, Myositis, Panniculitis, Anemia, Arthritis, Splenomegaly, Increased circulating antibod... |
OMIM:617591 |
X-Linked Agammaglobulinemia |
|
Sinusitis, Autoimmunity, Agammaglobulinemia, Neutropenia, Recurrent cutaneous abscess formation, ... |
ORPHA:47 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Leukocytosis, Arthritis, Splenomegaly, Skin rash, Recurrent aphthous stomatitis, Elevated circula... |
OMIM:611762 |
Leishmaniasis |
|
Leukopenia, Rhinitis, Anemia, Splenomegaly, Abnormal macrophage morphology, Increased circulating... |
ORPHA:507 |
Multiple Myeloma |
|
Hyperproteinemia, Hypercalcemia, Increased circulating IgA level, Elevated circulating creatinine... |
ORPHA:29073 |
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema |
|
Eczema, Inflammation of the large intestine, Neutropenia, Decreased circulating IgG level, Arthri... |
OMIM:608809 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Atopic dermatitis, Leukocytosis, Autoimmunity, Increased circulating IgE level, Hypereosinophilia... |
ORPHA:2902 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Abnormality of the wrist, Increased circulating IgE level, Abnormality of the elbow |
ORPHA:89843 |
Aicardi-Goutieres Syndrome 7 |
|
Atopic dermatitis, Thrombocytopenia, Increased circulating antibody level, Splenomegaly |
OMIM:615846 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Anti-thyroid peroxidase antibody positivity, Autoimmunity, Eczema, Decreased prealbumin level, Ne... |
ORPHA:37042 |
Felty Syndrome |
|
Rheumatoid arthritis, Neutropenia, Splenomegaly |
OMIM:134750 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Increased circulating IgA level, Reduced natural killer cell activity, Dysgammaglobulinemia, Incr... |
OMIM:300291 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating IgG level, Neutropenia, Decreased circulating total IgM |
OMIM:251190 |
X-Linked Immunoneurologic Disorder |
|
Decreased circulating IgG2 level |
ORPHA:2571 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmunity, Eczema, Polyarticular arthritis, Interstitial pneumonitis, Neutropenia in presence ... |
OMIM:615952 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Crescentic glomerulonephritis, Elevated circulating C-reactive protein concentration, Antinuclear... |
OMIM:616414 |
Hemochromatosis, Type 3 |
|
Increased serum iron, Neutropenia, Anemia, Arthritis, Elevated transferrin saturation, Increased ... |
OMIM:604250 |
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome |
|
Synovial hypertrophy, Constrictive pericarditis, Congenital finger flexion contractures, Generali... |
OMIM:208250 |
Autoimmune Polyendocrinopathy Type 4 |
|
Keratoconjunctivitis sicca, Macrocytic anemia, Autoimmunity, Tubulointerstitial nephritis, Leukop... |
ORPHA:227990 |
Unclassified Myelodysplastic Syndrome |
|
Leukocytosis, Autoimmunity, Acute myeloid leukemia, Bone marrow hypocellularity |
ORPHA:98827 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Leukocytosis, Thrombocytosis, Defective T cell proliferation, Increased circulating IgG level, Hy... |
OMIM:618213 |
Familial Cold Autoinflammatory Syndrome 1 |
|
Leukocytosis, Arthritis, Uveitis, Skin rash, Elevated circulating C-reactive protein concentratio... |
OMIM:120100 |
Vexas Syndrome |
|
Inflammatory abnormality of the skin, Macrocytic anemia, Nasal chondritis, Chondritis of pinna, N... |
OMIM:301054 |
Q Fever |
|
Myocarditis, Thrombocytopenia, Hepatitis, Rheumatoid factor positive, Splenomegaly, Hepatosplenom... |
ORPHA:781 |
Felty Syndrome |
|
Sinusitis, Autoimmunity, Neutropenia, Pericarditis, Episcleritis, Synovitis, Chronic otitis media... |
ORPHA:47612 |
Immunodeficiency 67 |
|
Increased circulating IgE level, Transient neutropenia, Liver abscess |
OMIM:607676 |
Cinca Syndrome |
|
Leukocytosis, Patellar overgrowth, Anemia, Arthritis, Hepatosplenomegaly, Uveitis, Skin rash, Eos... |
OMIM:607115 |
Overlap Myositis |
|
Autoimmunity, Leukopenia, Elevated circulating creatine kinase concentration, Abnormal circulatin... |
ORPHA:206572 |
Systemic Lupus Erythematosus, Susceptibility To, 6 |
|
Pericarditis, Systemic lupus erythematosus, Arthritis, Malar rash, Antinuclear antibody positivity |
OMIM:609939 |
Immunodeficiency 13 |
|
B lymphocytopenia, Bronchiectasis, Recurrent otitis media, Decreased proportion of CD4-positive h... |
OMIM:615518 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Absent microvilli on the surface of peripheral blood lymphocytes, Sinusitis, Eczema, Inflammation... |
OMIM:600903 |
Autoimmune Polyendocrinopathy Type 3 |
|
Keratoconjunctivitis sicca, Macrocytic anemia, Autoimmunity, Tubulointerstitial nephritis, Leukop... |
ORPHA:227982 |
O'Sullivan-Mcleod Syndrome |
|
Eosinophilia, Increased circulating antibody level |
ORPHA:99965 |
Autosomal Agammaglobulinemia |
|
Sinusitis, Agammaglobulinemia, Neutropenia, Bronchiectasis, Chronic otitis media, Hepatitis, Arth... |
ORPHA:33110 |
Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circ... |
ORPHA:90362 |
Okur-Chung Neurodevelopmental Syndrome |
|
Decreased circulating IgA level, Joint hypermobility, Decreased circulating IgG level, Decreased ... |
OMIM:617062 |
Sjogren Syndrome |
|
Keratoconjunctivitis sicca, Autoimmunity, Rheumatoid arthritis, Tubulointerstitial nephritis |
OMIM:270150 |
Netherton Syndrome |
|
Allergic rhinitis, Erythroderma, Decreased circulating IgG level, Increased circulating IgE level... |
OMIM:256500 |
Gamma-Heavy Chain Disease |
|
Autoimmunity, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Osteolysis, Autoimmune thromb... |
ORPHA:100026 |
Prolidase Deficiency |
|
Eczema, Systemic lupus erythematosus, Anemia, Splenomegaly, Crusting erythematous dermatitis, Inc... |
OMIM:170100 |
Diffuse Alveolar Hemorrhage |
|
Leukocytosis, Autoimmunity, Antineutrophil antibody positivity, Elevated circulating creatinine c... |
ORPHA:90060 |
Igg4-Related Pachymeningitis |
|
Sinusitis, Lymphadenitis, Nephritis, Increased circulating IgG4 level, Pancreatitis, Parotitis, C... |
ORPHA:449427 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Pneumonia, Bronchiectasis, Decreased circulating IgA level, Reduced natural killer cel... |
OMIM:242860 |
Adult-Onset Nemaline Myopathy |
|
Paraproteinemia, Mildly elevated creatine kinase, Flexion contracture |
ORPHA:171442 |
Immunodeficiency 68 |
|
B lymphocytopenia, Lymphadenitis, Abscess, Septic arthritis, Recurrent skin infections, T lymphoc... |
OMIM:612260 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Synovial hypertrophy, Abnormal hip joint morphology, Synovitis, Hip osteoarthritis, Ankle swellin... |
ORPHA:85408 |
Transcobalamin Ii Deficiency |
|
Macrocytic anemia, Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level,... |
OMIM:275350 |
Thrombocytopenia 1 |
|
Eczema, Decreased mean platelet volume, Increased circulating IgA level, Joint hemorrhage, Interm... |
OMIM:313900 |
Familial Calcium Pyrophosphate Deposition |
|
Chondrocalcinosis, Joint dislocation, Arthritis, Limitation of joint mobility, Osteoarthritis, Jo... |
ORPHA:1416 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Keratoconjunctivitis sicca, Autoimmunity, Tubulointerstitial nephritis, Myositis, Increased circu... |
ORPHA:79078 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Increased circulating IgE level, Blepharitis, Erythroderma, Pustule |
OMIM:614328 |
Coccidioidomycosis |
|
Abnormality of the spleen, Pericarditis, Folliculitis, Pneumonia, Peritonitis, Abscess, Panniculi... |
ORPHA:228123 |
Immunodeficiency 22 |
|
Autoimmunity, Panniculitis, Decreased proportion of CD4-positive helper T cells |
OMIM:615758 |
Ataxia-Telangiectasia |
|
Sinusitis, Bronchiectasis, Leukemia, Decreased circulating IgA level, Hypoplasia of the thymus, D... |
OMIM:208900 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Increased circulating interleukin 8, Parotitis, Splenomegaly, Camptodactyly of finger, Elevated c... |
OMIM:256040 |
Interstitial Lung Disease 2 |
|
Increased circulating antibody level |
OMIM:178500 |
Hypotrichosis Simplex Of The Scalp |
|
Atopic dermatitis, Increased circulating IgE level, Allergic rhinitis |
ORPHA:90368 |
Pemphigus Erythematosus |
|
Autoimmunity, Systemic lupus erythematosus, Antinuclear antibody positivity, Anti-acetylcholine r... |
ORPHA:79480 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Enteroviral hepatitis, Infectious encephalitis, Pyoderma, Absent circulating B cells, ... |
OMIM:307200 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Autoimmunity, Systemic lupus erythematosus, Increased total bilirubin, Skin rash, Autoimmune hemo... |
ORPHA:90036 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Increased circulating IgE level |
ORPHA:1858 |
Psoriasis 14, Pustular |
|
Leukocytosis, Cholangitis, Psoriasiform dermatitis, Pustule, Polyarticular arthritis, Oligoarthri... |
OMIM:614204 |
Adult-Onset Still Disease |
|
Myocarditis, Leukocytosis, Pericarditis, Abnormal circulating lipid concentration, Hepatitis, Bon... |
ORPHA:829 |
Igg4-Related Ophthalmic Disease |
|
Sinusitis, Cholangitis, Prostatitis, Increased circulating IgG4 level, Pancreatitis, Keratitis, I... |
ORPHA:449563 |
Thymic Tumor |
|
Dysgammaglobulinemia, Autoimmunity, Pericarditis |
ORPHA:100100 |
Wiskott-Aldrich Syndrome |
|
Absent microvilli on the surface of peripheral blood lymphocytes, Impaired lymphocyte transformat... |
OMIM:301000 |
Postinfectious Vasculitis |
|
Inflammatory abnormality of the skin, Bacterial endocarditis, Pneumonia, Cryoglobulinemia, Increa... |
ORPHA:48435 |
Rift Valley Fever |
|
Infectious encephalitis, Hepatitis, Anemia, Increased circulating IgG level, Uveitis, Increased c... |
ORPHA:319251 |
Zika Virus Disease |
|
Wrist swelling, Infectious encephalitis, Ankle swelling, Arthritis, Increased circulating IgM lev... |
ORPHA:448237 |
Tick-Borne Encephalitis |
|
Leukocytosis, Stiff neck, Abnormality of serum cytokine level, Leukopenia, Increased circulating ... |
ORPHA:297 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
B lymphocytopenia, Psoriasiform dermatitis, Recurrent aspiration pneumonia, Decreased circulating... |
ORPHA:221139 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Psoriasiform dermatitis, Autoimmunity, Polyarticular arthritis, Abnormality of the knee, Oligoart... |
ORPHA:85436 |
Hyper-Igd Syndrome |
|
Leukocytosis, Lymphadenitis, Increased circulating IgA level, Chronic oral candidiasis, Arthritis... |
OMIM:260920 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Inflammation of the large intestine, Abnormal sacroiliac joint morpholog... |
ORPHA:324964 |
Myotonic Dystrophy 2 |
|
Elevated circulating creatine kinase concentration, Decreased circulating IgG level, Decreased ci... |
OMIM:602668 |
Peeling Skin Syndrome 1 |
|
Increased circulating IgE level |
OMIM:270300 |
Myasthenia Gravis |
|
Anti-acetylcholine receptor antibody positivity, Myositis, Hepatitis, Systemic lupus erythematosu... |
ORPHA:589 |
Immunodeficiency 82 With Systemic Inflammation |
|
Hypernatremia, Hepatitis, Splenomegaly, Gastritis, Crohn's disease, Decreased circulating total I... |
OMIM:619381 |
Juvenile Idiopathic Arthritis |
|
Psoriasiform dermatitis, Autoimmunity, Abnormal joint morphology, Abnormal sacroiliac joint morph... |
ORPHA:92 |
Caffey Disease |
|
Increased circulating antibody level |
ORPHA:1310 |
Gaucher Disease Type 1 |
|
Leukopenia, Anemia, Splenomegaly, Pathologic fracture, Osteopenia, Hypersplenism, Increased circu... |
ORPHA:77259 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Eczema, Chronic otitis media, Craniosynostosis, Osteomyelitis, Osteopenia, Increased circulating ... |
ORPHA:2314 |
Purine Nucleoside Phosphorylase Deficiency |
|
Abnormal T cell morphology, Autoimmunity, Hypouricemia, Systemic lupus erythematosus, Decreased p... |
ORPHA:760 |
Agammaglobulinemia, X-Linked |
|
Sinusitis, Enteroviral hepatitis, Agammaglobulinemia, Infectious encephalitis, Pyoderma, Pneumoni... |
OMIM:300755 |
Ebola Hemorrhagic Fever |
|
Leukopenia, Hepatitis, Increased circulating antibody level, Acute pancreatitis, Lymphopenia, Mac... |
ORPHA:319218 |
Primary Biliary Cholangitis |
|
Autoimmunity, Increased circulating IgA level, Abnormal circulating lipid concentration, Hepatiti... |
ORPHA:186 |
Diverticulosis, Small-Intestinal |
|
Rheumatoid arthritis, Thyroiditis, Ulcerative colitis |
OMIM:223320 |
Pneumocystosis |
|
Interstitial pneumonitis, Chronic oral candidiasis, Increased circulating antibody level, Acute i... |
ORPHA:723 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Peritonitis, Increased circulating IgA level, Arthritis, Limitation of joint mobility, Recurrent ... |
ORPHA:343 |
Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Increased circulating antibody level |
OMIM:114065 |
Sitosterolemia 1 |
|
Stomatocytosis, Episodic hemolytic anemia, Elevated circulating sitosterol concentration, Arthrit... |
OMIM:210250 |
Urban-Rogers-Meyer Syndrome |
|
Flexion contracture of toe, Osteoporosis, Increased circulating IgE level, Camptodactyly of finge... |
ORPHA:3409 |
Aspergillosis |
|
Sinusitis, Infectious encephalitis, Neutropenia, Pneumonia, Bronchiectasis, Hepatitis, Osteomyeli... |
ORPHA:1163 |
Secondary Intestinal Lymphangiectasia |
|
Constrictive pericarditis, Autoimmunity, Decreased prealbumin level, Decreased circulating IgA le... |
ORPHA:90363 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Autoimmunity, Neutropenia, Pneumonia, Recurrent otitis media, Systemic lupus erythematosus, Joint... |
OMIM:607944 |
Igg4-Related Retroperitoneal Fibrosis |
|
Anti-thyroid peroxidase antibody positivity, Psoriasiform dermatitis, Deep dermal perivascular in... |
ORPHA:49041 |
Crimean-Congo Hemorrhagic Fever |
|
Myocarditis, Leukocytosis, Stiff neck, Leukopenia, Elevated circulating creatine kinase concentra... |
ORPHA:99827 |
Thymic Aplasia |
|
Sinusitis, Eczematoid dermatitis, Autoimmunity, Decreased proportion of naive T cells, Hypocalcem... |
ORPHA:83471 |
Lysinuric Protein Intolerance |
|
Tubulointerstitial nephritis, Decreased circulating antibody level, Hyperglycinemia, Pathologic f... |
ORPHA:470 |
Bloom Syndrome |
|
Bronchiectasis, Leukemia, Decreased circulating IgA level, Decreased circulating IgG level, Malar... |
OMIM:210900 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Anti-thyroid peroxidase antibody positivity, Cholangitis, Autoimmunity, Anti-glutamic acid decarb... |
ORPHA:228426 |
Complement Factor I Deficiency |
|
Sinusitis, Decreased serum complement factor H, Recurrent otitis media, Pyelonephritis, Arthritis... |
OMIM:610984 |
Alg12-Cdg |
|
B lymphocytopenia, Hypoalbuminemia, Hyponatremia, Partial absence of specific antibody response t... |
ORPHA:79324 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Leukocytosis, Thrombocytosis, Eczema, Leukopenia, Decreased circulating antibody level, Bone marr... |
OMIM:615688 |
Spondyloenchondrodysplasia |
|
Autoimmunity, Pancytopenia, Pneumonia, Hepatitis, Systemic lupus erythematosus, Arthritis, Autoim... |
ORPHA:1855 |
Say-Barber-Miller Syndrome |
|
Abnormal T cell morphology, Eczema, Recurrent patellar dislocation, Transient hypogammaglobulinem... |
ORPHA:3132 |
Osteopetrosis, Autosomal Recessive 7 |
|
Hypocalcemic seizures, Decreased circulating IgA level, Decreased circulating IgG level, Osteopet... |
OMIM:612301 |
Congenital Analbuminemia |
|
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Increased circulating antibody level, Hypo... |
ORPHA:86816 |
Netherton Syndrome |
|
Eczema, Erythroderma, Decreased circulating antibody level, Increased circulating IgE level, Skin... |
ORPHA:634 |
Vici Syndrome |
|
Joint stiffness, Decreased circulating IgG level, Decreased circulating IgG2 level |
ORPHA:1493 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Reduced hematocrit, Tubulointerstitial nephritis, Normocytic anemia, Posterior uveitis, Normochro... |
ORPHA:91500 |
Primary Sjögren Syndrome |
|
Tubulointerstitial nephritis, Normochromic anemia, Decreased circulating antibody level, Parotiti... |
ORPHA:289390 |
Riddle Syndrome |
|
Pneumonia, Decreased circulating IgA level, Decreased circulating IgG level, Chronic sinusitis, A... |
ORPHA:420741 |
Immunodeficiency 47 |
|
Normocytic anemia, Decreased circulating total IgA, Leukopenia, Decreased circulating total IgG, ... |
OMIM:300972 |
Achalasia, Familial Esophageal |
|
Keratoconjunctivitis sicca, Rheumatoid arthritis |
OMIM:200400 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hypoalbuminemia, Neutropenia, Leukopenia, Nephritis, Anemia, Bone marrow hypocellularity, Splenom... |
OMIM:617303 |
Encephalitis Lethargica |
|
Autoimmunity, Increased circulating antibody level, Stiff neck |
ORPHA:83600 |
Mevalonic Aciduria |
|
Fluctuating splenomegaly, Leukocytosis, Increased circulating IgD level, Elevated circulating C-r... |
OMIM:610377 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Decreased circulating IgG level, Decreased circulating antibody level, Craniosynostosis, Decrease... |
ORPHA:508533 |
Bloom Syndrome |
|
Acute lymphoblastic leukemia, Abnormal proportion of CD8-positive T cells, Pneumonia, Cheilitis, ... |
ORPHA:125 |
Vici Syndrome |
|
Cutaneous anergy, Decreased circulating IgG level, Chronic mucocutaneous candidiasis, Decreased p... |
OMIM:242840 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Thrombocytosis, Decreased circulating IgA level, Hypocholesterolemia, Decreased circulating IgG l... |
OMIM:212065 |
Cystic Echinococcosis |
|
Splenic cyst, Peritoneal abscess, Membranous nephropathy, Abscess, Hyperbilirubinemia, Increased ... |
ORPHA:400 |
Hereditary Xanthinuria |
|
Hypouricemia, Hyperxanthinemia, Gout, Rheumatoid arthritis, Arthropathy |
ORPHA:3467 |
Lymphoid Interstitial Pneumonia |
|
Keratoconjunctivitis sicca, Autoimmunity, Eczema, Bronchiectasis, Autoimmune antibody positivity,... |
ORPHA:79128 |
Mogs-Cdg |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... |
ORPHA:79330 |
Marburg Hemorrhagic Fever |
|
Hyperamylasemia, Hypoalbuminemia, Pericarditis, Leukopenia, Hypokalemia, Neutrophilia in presence... |
ORPHA:99826 |
Mgat2-Cdg |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Decr... |
ORPHA:79329 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Leukopenia, Decreased circulating IgG level, Anemia, Bone marrow hypocellularity, Hepatosplenomeg... |
ORPHA:505248 |
Lead Poisoning |
|
Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Decreased HDL cholesterol concentrat... |
ORPHA:330015 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Genu varum, Neutropenia, Laryngotracheomalacia, Decreased circulating IgG level, Osteopenia, Genu... |
OMIM:271510 |
Poems Syndrome |
|
Thrombocytosis, Sclerosis of foot bone, Polycythemia, Sclerosis of hand bone, Increased circulati... |
ORPHA:2905 |
Trichothiodystrophy 1, Photosensitive |
|
Keratoconjunctivitis sicca, Decreased circulating IgG level, Erythroderma, Flexion contracture |
OMIM:601675 |
Lassa Fever |
|
Increased circulating IgM level, Conjunctivitis |
ORPHA:99824 |
Gaucher Disease |
|
Elevated circulating C-reactive protein concentration, Hepatitis, Anemia, Arthrogryposis multiple... |
ORPHA:355 |
Gaucher Disease Type 3 |
|
Increased susceptibility to fractures, Anemia, Splenomegaly, Increased circulating antibody level... |
ORPHA:77261 |
Alveolar Echinococcosis |
|
Cholangitis, Anemia, Abnormal spleen morphology, Increased circulating antibody level, Eosinophil... |
ORPHA:284 |
Dubowitz Syndrome |
|
Eczema, Acute lymphoblastic leukemia, Decreased circulating IgA level, Decreased circulating IgG ... |
OMIM:223370 |
Viss Syndrome |
|
Atopic dermatitis, Eczema, Decreased circulating IgA level, Generalized joint laxity, Increased c... |
OMIM:619472 |
Japanese Encephalitis |
|
Stiff neck, Hyponatremia, Infectious encephalitis, Genu recurvatum, Neutrophilia, Increased circu... |
ORPHA:79139 |
Al Amyloidosis |
|
Anemia, Increased circulating NT-proBNP concentration, Increased circulating antibody level, Howe... |
ORPHA:85443 |
Scleromyxedema |
|
Elevated circulating creatine kinase concentration, Paraproteinemia |
ORPHA:167635 |
Primary Sclerosing Cholangitis |
|
Autoimmunity, Hepatitis, Osteoporosis, Pancreatitis, Splenomegaly, Osteopenia, Hepatosplenomegaly... |
ORPHA:171 |
Sarcoidosis, Susceptibility To, 1 |
|
Inflammation of the large intestine, Bronchiectasis, Arthritis, Splenomegaly, Iridocyclitis, Uvei... |
OMIM:181000 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
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Elevated circulating creatine kinase concentration, Increased circulating antibody level, Elevate... |
OMIM:606002 |
Aapoaiv Amyloidosis |
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Elevated circulating creatinine concentration, Paraproteinemia, Hyperlipidemia |
ORPHA:439232 |
Autosomal Dominant Dopa-Responsive Dystonia |
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Progressive flexion contractures, Rheumatoid arthritis, Transient hyperphenylalaninemia |
ORPHA:98808 |
Familial Hypocalciuric Hypercalcemia |
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Autoimmunity, Hypercalcemia, Chondrocalcinosis, Hypocalcemic seizures, Pancreatitis, Infantile hy... |
ORPHA:405 |
Cysticercosis |
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Stiff neck, Iridocyclitis, Infectious encephalitis, Increased circulating antibody level |
ORPHA:1560 |
Yellow Fever |
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Leukocytosis, Increased circulating interleukin 6, Elevated circulating creatine kinase concentra... |
ORPHA:99829 |
Arteritis, Familial Granulomatous, With Juvenile Polyarthritis |
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Granulomatous coronary arteritis, Rheumatoid arthritis, Iritis |
OMIM:108050 |
Trichinellosis |
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Increased circulating IgE level, Skin rash, Conjunctivitis |
ORPHA:863 |
Simpson-Golabi-Behmel Syndrome |
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Vertebral fusion, Congenital hip dislocation, Splenomegaly, Increased circulating IgE level, Camp... |
ORPHA:373 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Metopic synostosis, Secretory IgA deficiency, Decreased circulating IgG level, Hyperextensible ha... |
ORPHA:500150 |