Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Increased circulating antibody level, Lymphopenia, Glomerulonephritis, Autoimmune hemolytic anemi... |
OMIM:247800 |
Immunodeficiency 51 |
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Recurrent cutaneous fungal infections, Chronic oral candidiasis, Folliculitis, Chronic furunculos... |
OMIM:613953 |
Combined Immunodeficiency, X-Linked |
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Recurrent bronchitis, Decreased proportion of CD8-positive T cells, Sinusitis, Otitis media, Decr... |
OMIM:312863 |
Immunoglobulin A Deficiency 2 |
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Autoimmunity, Decreased circulating IgA level, Abnormal lymphocyte morphology, Recurrent sinopulm... |
OMIM:609529 |
Immunodeficiency 50 |
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Recurrent respiratory infections, Decreased circulating antibody level, Eczema, Lymphopenia, Neut... |
OMIM:300988 |
Immunodeficiency 89 And Autoimmunity |
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Reduced circulating interleukin 22 concentration, Crohn's disease, Bronchiectasis, Reduced circul... |
OMIM:619632 |
Tn Polyagglutination Syndrome |
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Abnormal erythrocyte morphology, Autoimmunity |
OMIM:300622 |
Immunodeficiency, Common Variable, 5 |
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Chronic decreased circulating total IgG, Recurrent respiratory infections, Antinuclear antibody p... |
OMIM:613495 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
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Respiratory tract infection, Bronchiectasis, Hypoxemia, Reduced forced vital capacity, Bronchioli... |
ORPHA:1303 |
Masp2 Deficiency |
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Recurrent pneumonia, Systemic lupus erythematosus, Ulcerative colitis |
OMIM:613791 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
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T lymphocytopenia, Abnormally low T cell receptor excision circle level, Recurrent upper respirat... |
OMIM:618806 |
Autoimmune Disease |
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Autoimmunity, Autoimmune antibody positivity |
OMIM:109100 |
Pemphigus Vulgaris, Familial |
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Autoimmunity, Autoimmune antibody positivity |
OMIM:169610 |
Immunodeficiency 11B With Atopic Dermatitis |
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Decreased circulating total IgM, Bronchiectasis, Asthma, Ulcerative colitis, Colonic eosinophilia... |
OMIM:617638 |
Immunodeficiency, Common Variable, 1 |
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Conjunctivitis, Decreased circulating total IgM, Bronchiectasis, B lymphocytopenia, Neutropenia i... |
OMIM:607594 |
Immunodeficiency 48 |
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Panhypogammaglobulinemia, Absence of CD8-positive T cells, Pneumonia, Eczematoid dermatitis, Recu... |
OMIM:269840 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
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Respiratory tract infection, Hemolytic anemia, Hepatitis, Autoimmunity, Recurrent otitis media, A... |
ORPHA:444463 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
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Bronchiectasis, Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgG l... |
OMIM:619220 |
Immunodeficiency 62 |
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Complete or near-complete absence of specific antibody response to tetanus vaccine, Decreased cir... |
OMIM:618459 |
Eosinophilopenia |
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Decreased eosinophil count, Autoimmunity, Allergic rhinitis |
OMIM:131430 |
Complement Component C1R/C1S Deficiency |
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Discoid lupus rash, Arthritis, Recurrent bronchitis, Autoimmunity, Nephritis |
OMIM:216950 |
Systemic Lupus Erythematosus 16 |
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Perinuclear antineutrophil antibody positivity, Systemic lupus erythematosus, Anti-dsDNA antibody... |
OMIM:614420 |
Immunodeficiency 104 |
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T lymphocytopenia, Eczema, Chronic mucocutaneous candidiasis, Recurrent otitis media, Otitis medi... |
OMIM:608971 |
Agammaglobulinemia 7, Autosomal Recessive |
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Reduced natural killer cell count, Panhypogammaglobulinemia, Recurrent respiratory infections, Ne... |
OMIM:615214 |
Immunodeficiency 102 |
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Bronchiectasis, Recurrent sinusitis, Decreased proportion of CD4-positive helper T cells, Recurre... |
OMIM:301082 |
Ciliary Dyskinesia, Primary, 44 |
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Bronchiectasis, Reduced forced vital capacity, Recurrent sinusitis, Otitis media, Neonatal respir... |
OMIM:618781 |
Immunodeficiency 32B |
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Abnormal circulating IgG level, Anemia, Recurrent respiratory infections, Bronchiectasis, Monocyt... |
OMIM:226990 |
Agammaglobulinemia 4, Autosomal Recessive |
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Abnormal T cell morphology, Decreased circulating total IgM, Neutropenia, Chronic sinusitis, Recu... |
OMIM:613502 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
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T lymphocytopenia, Bronchiectasis, Increased proportion of transitional B cells, Decreased circul... |
OMIM:615513 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
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Atrophic gastritis, Bronchiectasis, Decreased circulating antibody level, Chronic pulmonary obstr... |
OMIM:616576 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
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T lymphocytopenia, B lymphocytopenia, Interstitial pneumonitis, Neutropenia in presence of anti-n... |
ORPHA:231154 |
Ciliary Dyskinesia, Primary, 9 |
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Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Chroni... |
OMIM:612444 |
Immunodeficiency 52 |
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Bronchiectasis, Decreased circulating antibody level, Increased proportion of gamma-delta T cells... |
OMIM:617514 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
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Increased CD4:CD8 ratio, Minimal change glomerulonephritis, Autoimmunity, Impaired lymphocyte tra... |
OMIM:617006 |
Immunodeficiency 27A |
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Anemia, Rheumatoid factor positive, Abnormal bronchus physiology, Hepatosplenomegaly, Histiocytos... |
OMIM:209950 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
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Splenomegaly, Hemolytic anemia, Neutropenia, Increased circulating antibody level, Lymphocytosis,... |
OMIM:614470 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
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Conjunctivitis, Panhypogammaglobulinemia, Purulent rhinitis, T lymphocytopenia, B lymphocytopenia... |
OMIM:601457 |
Agammaglobulinemia 3, Autosomal Recessive |
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Abnormal T cell morphology, Absent isohemagglutinin level, Neutropenia, Recurrent bronchitis, Rec... |
OMIM:613501 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
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Recurrent bronchopulmonary infections, Neutropenia, Decreased circulating total IgM |
OMIM:610798 |
Neutropenia, Chronic Familial |
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Increased circulating antibody level, Neutropenia, Periodontitis |
OMIM:162700 |
Immunodeficiency 14B, Autosomal Recessive |
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Decreased circulating total IgM, B lymphocytopenia, Neutrophilia, Recurrent sinusitis, Inflammati... |
OMIM:619281 |
Ciliary Dyskinesia, Primary, 21 |
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Decreased nasal nitric oxide, Bronchiectasis, Chronic sinusitis, Recurrent otitis media, Recurren... |
OMIM:615294 |
Ciliary Dyskinesia, Primary, 42 |
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Respiratory insufficiency, Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Chr... |
OMIM:618695 |
Severe Combined Immunodeficiency, X-Linked |
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Hypoplasia of the thymus, Decreased circulating total IgM, Chronic oral candidiasis, T lymphocyto... |
OMIM:300400 |
Isolated Agammaglobulinemia |
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Anemia, Recurrent respiratory infections, Skin rash, Inflammatory abnormality of the eye, Arthrit... |
ORPHA:229717 |
Immunoglobulin A Deficiency 1 |
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Recurrent respiratory infections, Autoimmunity, Decreased circulating IgA level |
OMIM:137100 |
Pulmonary Alveolar Proteinosis, Acquired |
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Intraalveolar phospholipid accumulation, Brain abscess, Anti-granulocyte-macrophage colony stimul... |
OMIM:610910 |
Mucus Inspissation Of Respiratory Tract |
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Bronchiectasis, Chronic pulmonary obstruction, Chronic sinusitis, Recurrent respiratory infection... |
OMIM:253240 |
Immunodeficiency 60 And Autoimmunity |
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Decreased basophil count, Crohn's disease, Decreased circulating total IgM, Bronchiectasis, Recur... |
OMIM:618394 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
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Anti-thyroid peroxidase antibody positivity, T lymphocytopenia, Inflammatory abnormality of the s... |
ORPHA:277 |
Chilblain Lupus |
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Malar rash, Chronic myelomonocytic leukemia, Inflammatory abnormality of the skin, Increased circ... |
ORPHA:90280 |
Immunodeficiency 64 With Lymphoproliferation |
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Splenomegaly, Anti-thyroid peroxidase antibody positivity, Bronchiectasis, Recurrent lower respir... |
OMIM:618534 |
Ciliary Dyskinesia, Primary, 33 |
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Bronchiectasis, Recurrent bronchitis, Recurrent otitis media, Chronic rhinitis, Recurrent pneumon... |
OMIM:616726 |
Ciliary Dyskinesia, Primary, 23 |
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Chronic bronchitis, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance,... |
OMIM:615451 |
Neonatal Alloimmune Neutropenia |
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Neutropenia in presence of anti-neutropil antibodies, Pneumonia, Antineutrophil antibody positivity |
ORPHA:464370 |
Caspase 8 Deficiency |
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Decreased CD4:CD8 ratio, Decreased circulating total IgM, Asthma, Eczema, Recurrent sinopulmonary... |
OMIM:607271 |
Combined Immunodeficiency Due To Dock8 Deficiency |
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Recurrent bacterial skin infections, Atopic dermatitis, T lymphocytopenia, B lymphocytopenia, Ast... |
ORPHA:217390 |
Agammaglobulinemia 10, Autosomal Dominant |
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Decreased circulating total IgM, Recurrent respiratory infections, Recurrent sinusitis, Absent ci... |
OMIM:619707 |
Young Syndrome |
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Recurrent bronchitis, Recurrent sinopulmonary infections, Bronchiectasis, Congenital pulmonary ai... |
OMIM:279000 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
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Recurrent respiratory infections, Neutropenia, Recurrent otitis media |
OMIM:616022 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
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Anemia, Increased circulating antibody level, Acute monocytic leukemia, Thrombocytosis, Eosinophi... |
OMIM:202700 |
C1Q Deficiency 1 |
|
Systemic lupus erythematosus, Autoimmunity, Membranoproliferative glomerulonephritis |
OMIM:613652 |
Hashimoto Thyroiditis |
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Hashimoto thyroiditis, Autoimmune antibody positivity |
OMIM:140300 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
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Chronic bronchitis, T lymphocytopenia, Bronchiectasis, Impaired neutrophil chemotaxis, Recurrent ... |
OMIM:618986 |
Mounier-Kühn Syndrome |
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Bronchitis, Recurrent bronchopulmonary infections, Recurrent respiratory infections, Pneumonia |
ORPHA:3347 |
Immunodeficiency 13 |
|
Decreased CD4:CD8 ratio, T lymphocytopenia, Bronchiectasis, B lymphocytopenia, Recurrent sinusiti... |
OMIM:615518 |
Ciliary Dyskinesia, Primary, 27 |
|
Rhinitis, Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Respiratory insuffici... |
OMIM:615504 |
Acute Lung Injury |
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Abnormal pulmonary interstitial morphology, Increased circulating interleukin 6 concentration, Ab... |
ORPHA:178320 |
Whim Syndrome 1 |
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Bronchiectasis, Decreased circulating antibody level, Recurrent upper respiratory tract infection... |
OMIM:193670 |
Pneumocystosis |
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Respiratory insufficiency, Exertional dyspnea, Chronic oral candidiasis, Increased circulating an... |
ORPHA:723 |
Bronchiectasis With Or Without Elevated Sweat Chloride 3 |
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Chronic bronchitis, Bronchiectasis |
OMIM:613071 |
Bronchiectasis With Or Without Elevated Sweat Chloride 1 |
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Chronic bronchitis, Bronchiectasis |
OMIM:211400 |
Bronchiectasis With Or Without Elevated Sweat Chloride 2 |
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Chronic bronchitis, Bronchiectasis |
OMIM:613021 |
Idiopathic Achalasia |
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Bronchitis, Cough, Wheezing, Recurrent aspiration pneumonia |
ORPHA:930 |
Immunodeficiency 57 With Autoinflammation |
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Reduced natural killer cell count, Perianal abscess, Bronchiectasis, Decreased circulating antibo... |
OMIM:618108 |
Ciliary Dyskinesia, Primary, 46 |
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Bronchiectasis, Reduced forced vital capacity, Recurrent otitis media, Recurrent sinusitis, Recur... |
OMIM:619436 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
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Increased B cell count, Herpes simplex encephalitis, Bronchiectasis, Increased proportion of memo... |
OMIM:618982 |
Adult Idiopathic Neutropenia |
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Recurrent aphthous stomatitis, Monocytopenia, Lymphopenia, Abnormal neutrophil count, Increased c... |
ORPHA:2688 |
Autoimmune Hemolytic Anemia, Cold Type |
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Hemolytic anemia, Autoimmunity, Dyspnea, Abnormal leukocyte morphology, Splenomegaly |
ORPHA:228312 |
Idiopathic Bronchiectasis |
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Respiratory tract infection, Bronchiectasis, Productive cough, Abnormal respiratory system physio... |
ORPHA:60033 |
Immunodeficiency, Common Variable, 2 |
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Conjunctivitis, Bronchiectasis, Recurrent bronchitis, Autoimmunity, Recurrent sinusitis, Recurren... |
OMIM:240500 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
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Neutropenia, Recurrent streptococcus pneumoniae infections |
ORPHA:70592 |
Ciliary Dyskinesia, Primary, 39 |
|
Decreased nasal nitric oxide, Bronchiectasis, Recurrent otitis media, Rhinorrhea, Cough, Chronic ... |
OMIM:618254 |
Neutrophilia, Hereditary |
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Neutrophilia, Splenomegaly |
OMIM:162830 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
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Chronic oral candidiasis, Increased circulating antibody level, Hepatitis, Decreased proportion o... |
ORPHA:169160 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
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Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, Bronchiectasis, Rec... |
OMIM:300853 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
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Bronchiectasis, Recurrent sinusitis, Colitis, Thrombocytopenia, Pneumonia, Splenomegaly, Decrease... |
OMIM:614700 |
Systemic Lupus Erythematosus |
|
Malar rash, Leukopenia, Antiphospholipid antibody positivity, Hemolytic anemia, Pleuritis, Arthri... |
OMIM:152700 |
Autoimmune Lymphoproliferative Syndrome |
|
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... |
OMIM:601859 |
Immunodeficiency 25 |
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Complete or near-complete absence of specific antibody response to tetanus vaccine, T lymphocytop... |
OMIM:610163 |
Ciliary Dyskinesia, Primary, 3 |
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Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Neonat... |
OMIM:608644 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Anti-U1 ribonucleoprotein antibody positivity, Decreased proportion of marginal zone B cells, Coo... |
OMIM:619375 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Recurrent aphthous stomatitis, Rhinitis, Neutropenia, Periodontitis, Acut... |
ORPHA:486 |
Adult Acute Respiratory Distress Syndrome |
|
Increased circulating interleukin 6 concentration, Pulmonary edema, Abnormality of tumor necrosis... |
ORPHA:70578 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Cough, Neonatal respiratory di... |
OMIM:300991 |
Muscular Hypertonia, Lethal |
|
Pneumonia, Respiratory distress |
OMIM:254120 |
Slc35A1-Cdg |
|
Pulmonary hemorrhage, Neutropenia, Hypoxemia, Respiratory distress, Abnormal platelet granules, G... |
ORPHA:238459 |
Trimethylaminuria |
|
Recurrent pneumonia, Anemia, Neutropenia, Splenomegaly |
OMIM:602079 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Septic arthritis, Megaloblastic anemia, Decreased circulating antibody level, Autoimmunity, Eczem... |
OMIM:617780 |
Insulin Autoimmune Syndrome |
|
Increased circulating antibody level, Autoimmunity, Autoimmune antibody positivity, Systemic lupu... |
ORPHA:411593 |
Immunodeficiency 46 |
|
Conjunctivitis, Anemia, Chronic oral candidiasis, Decreased circulating antibody level, Recurrent... |
OMIM:616740 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Decreased CD4:CD8 ratio, Autoimmunity, Recurrent otitis media, Autoimmune hemolytic anemia, Lymph... |
OMIM:618495 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Desquamative interstitial pneumonitis, Decreased circulating antibody level, Interstitial pneumon... |
OMIM:615952 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Periodontitis, Neutrophilia, Recurrent otitis media, Pneumonia, Reduction of neutrophil motility,... |
OMIM:266265 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Leukopenia, Acute myeloid leukemia, Asthma, Eczema, Systemic lupus erythematosus, Refractory anem... |
OMIM:616871 |
Ciliary Dyskinesia, Primary, 28 |
|
Rhinitis, Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Respiratory insuffici... |
OMIM:615505 |
Ciliary Dyskinesia, Primary, 29 |
|
Decreased nasal nitric oxide, Bronchiectasis, Recurrent respiratory infections, Ciliary dyskinesi... |
OMIM:615872 |
Ciliary Dyskinesia, Primary, 7 |
|
Decreased nasal nitric oxide, Bronchiectasis, Recurrent otitis media, Chronic rhinitis, Recurrent... |
OMIM:611884 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Crohn's disease, Decreased circulating total IgM, Bronchiectasis, Decreased c... |
OMIM:616100 |
Ciliary Dyskinesia, Primary, 25 |
|
Chronic bronchitis, Bronchiectasis, Productive cough, Immotile cilia, Polysplenia, Chronic pulmon... |
OMIM:615482 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Osteomyelitis, Bronchiectasis, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Recurren... |
OMIM:608184 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Reduced natural killer cell count, Decreased circulating total IgM, Bronchiectasis, Asthma, Cutan... |
OMIM:619752 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Hypoxemia, Respiratory distress, Tachypnea, Autoimmune antibody positivity, Crackles, Restrictive... |
ORPHA:264675 |
Isolated Congenital Hypoglossia/Aglossia |
|
Dyspnea, Upper airway obstruction, Aspiration pneumonia, Respiratory distress |
ORPHA:141152 |
Cd8 Deficiency, Familial |
|
Absence of CD8-positive T cells, Recurrent respiratory infections, Bronchiectasis |
OMIM:608957 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Bronchiectasis, Viral hepatitis, Psoriasiform dermatitis, Pneumonia, Atopic dermatitis, Decreased... |
ORPHA:183675 |
Diffuse Alveolar Hemorrhage |
|
Anemia, Thrombocytopenia, Antiphospholipid antibody positivity, Hypoxemia, Autoimmunity, Rheumato... |
ORPHA:90060 |
Ciliary Dyskinesia, Primary, 20 |
|
Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Recurrent sinusitis... |
OMIM:615067 |
Immunodeficiency 75 With Lymphoproliferation |
|
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Bronchie... |
OMIM:619126 |
Immunodeficiency 92 |
|
Osteomyelitis, B lymphocytopenia, Lymphocytosis, Sclerosing cholangitis, Esophagitis, Cholangitis... |
OMIM:619652 |
Tularemia |
|
Conjunctivitis, Anemia, Brain abscess, Erythema nodosum, Increased circulating antibody level, Sk... |
ORPHA:3392 |
Ciliary Dyskinesia, Primary, 24 |
|
Decreased nasal nitric oxide, Bronchiectasis, Immotile cilia, Chronic pulmonary obstruction, Recu... |
OMIM:615481 |
Aspergillosis |
|
Bronchiectasis, Pleural effusion, Eosinophilia, Pneumonia, Abnormality on pulmonary function test... |
ORPHA:1163 |
Immunodeficiency 36 With Lymphoproliferation |
|
Chronic lymphatic leukemia, Bronchiectasis, Increased proportion of transitional B cells, B lymph... |
OMIM:616005 |
Macrophage Activation Syndrome |
|
Abnormal natural killer cell count, Anemia, Increased circulating interleukin 6 concentration, Ab... |
ORPHA:158061 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Aspiration pneumonia |
OMIM:619477 |
Ciliary Dyskinesia, Primary, 41 |
|
Recurrent otitis media, Impaired nasal mucociliary clearance, Recurrent sinusitis, Bronchiectasis |
OMIM:618449 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Reduced natural killer cell count, Decreased circulating total IgM, Bronchiectasis, Eosinophilic ... |
OMIM:243700 |
Interstitial Lung Disease 1 |
|
Intralobular septal thickening, Elevated bronchoalveolar lavage fluid neutrophil proportion, Elev... |
OMIM:619611 |
Ciliary Dyskinesia, Primary, 11 |
|
Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Immotile cilia, Recurrent sinus... |
OMIM:612649 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Bronchiectasis, Respiratory distress, Abnormal mucociliary clearance, Recurrent respiratory infec... |
OMIM:619466 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Recurrent aphthous stomatitis, Chronic oral candidiasis, B lymphocytopenia, Bronchiectasis, Recur... |
OMIM:150550 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Hypereosinophilia, Atopic dermatitis, Asthma, Hypoxemia, Autoimmunity, Pleural effusion, Crackles... |
ORPHA:2902 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased B cell count, Splenomegaly, Absent isohemagglutinin level, Increased circulating antibo... |
OMIM:615559 |
Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Decreased circulating antibody level, Autoimmunity,... |
ORPHA:169079 |
Tracheobronchomegaly |
|
Recurrent bronchopulmonary infections, Bronchiectasis |
OMIM:275300 |
Staphylococcal Necrotizing Pneumonia |
|
Leukopenia, Pneumothorax, Pleural empyema, Neutrophilia, Hypoxemia, Respiratory distress, Tachypn... |
ORPHA:36238 |
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Decre... |
OMIM:615139 |
Microlissencephaly |
|
Pneumonia |
ORPHA:1083 |
Tracheobronchopathia Osteochondroplastica |
|
Respiratory insufficiency, Bronchitis, Exertional dyspnea, Productive cough, Recurrent respirator... |
ORPHA:3348 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Chronic bronchitis, Decreased circulating total IgM, B lymphocytopenia, Decreased circulating ant... |
OMIM:614069 |
Alpha-1-Antitrypsin Deficiency |
|
Splenomegaly, Chronic bronchitis, Bronchiectasis, Chronic pulmonary obstruction, Dyspnea, Cough, ... |
OMIM:613490 |
Ciliary Dyskinesia, Primary, 32 |
|
Decreased nasal nitric oxide, Bronchiectasis, Immotile cilia, Chronic pulmonary obstruction, Recu... |
OMIM:616481 |
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Sterile abscess, Osteomyelitis, Chronic oral candidiasis, Bronchiectasis, Eczema, Recurrent sinus... |
OMIM:618282 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Enterocolitis, Decreased circulating total IgM, Interstitial pneumonitis, Recurrent sinopulmonary... |
OMIM:614878 |
Ciliary Dyskinesia, Primary, 26 |
|
Rhinitis, Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Respiratory insuffici... |
OMIM:615500 |
Idiopathic Pulmonary Fibrosis |
|
Abnormal pulmonary interstitial morphology, Exertional dyspnea, Bronchiectasis, Honeycomb lung, R... |
ORPHA:2032 |
Immunodeficiency 7 |
|
Hypereosinophilia, Chronic oral candidiasis, Neutropenia, Autoimmunity, Recurrent otitis media, A... |
OMIM:615387 |
Felty Syndrome |
|
Neutropenia, Splenomegaly, Rheumatoid arthritis |
OMIM:134750 |
Selective Igm Deficiency |
|
Recurrent vulvovaginal candidiasis, Bronchiectasis, Fasciitis, Recurrent sinusitis, Decreased pro... |
ORPHA:331235 |
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
|
Bronchiectasis, Eczema, Recurrent otitis media, Eosinophilia, Keratitis, Recurrent respiratory in... |
OMIM:618523 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Respiratory tract infection, Chronic bronchitis, Bronchiectasis, Honeycomb lung, Hypoxemia, Chron... |
ORPHA:79127 |
Allergic Bronchopulmonary Aspergillosis |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Bronchiectasis, Asthma, Abnormal eosi... |
ORPHA:1164 |
Familial Nasal Acilia |
|
Bronchiectasis, Respiratory distress, Chronic sinusitis, Chronic rhinitis, Recurrent upper respir... |
ORPHA:922 |
Ciliary Dyskinesia, Primary, 5 |
|
Chronic bronchitis, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance,... |
OMIM:608647 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphadenitis, Recurrent bacterial skin infections, Chronic oral candidiasis, Skin rash, Lymphocy... |
ORPHA:911 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Crohn's disease, Decreased circulating total IgM, Bronchiectasis, Neutropenia, B lymphocytopenia,... |
OMIM:619705 |
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Recurrent otitis media, Recurrent pneumonia, Recurrent sinusitis, Bronchiectasis |
OMIM:620032 |
Transcobalamin Deficiency |
|
Decreased circulating total IgM, Decreased circulating antibody level, Lymphopenia, Pancytopenia,... |
ORPHA:859 |
Q Fever |
|
Lupus anticoagulant, Hepatosplenomegaly, Pleural effusion, Pericarditis, Antimitochondrial antibo... |
ORPHA:781 |
Ciliary Dyskinesia, Primary, 14 |
|
Chronic bronchitis, Bronchiectasis, Polysplenia, Chronic sinusitis, Recurrent pneumonia, Abnormal... |
OMIM:613807 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Crusting erythematous dermatitis, Anti-liver cytosolic antigen type 1 antibody positivity, Eczema... |
ORPHA:37042 |
Rigid Spine Syndrome |
|
Respiratory insufficiency, Pneumonia, Abnormality on pulmonary function testing |
ORPHA:97244 |
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome |
|
Aspiration pneumonia |
OMIM:609528 |
Ciliary Dyskinesia, Primary, 35 |
|
Decreased nasal nitric oxide, Bronchiectasis, Productive cough, Chronic sinusitis, Chronic rhinit... |
OMIM:617092 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Rhinitis, Panhypogammaglobulinemia, T lymphocytopenia, Neutropenia, Decreased circulating antibod... |
ORPHA:572 |
Ciliary Dyskinesia, Primary, 45 |
|
Immotile cilia, Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis |
OMIM:618801 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Absent specific antibody response, Eosinophilia, Pneumonia, Splenomegaly, Decreased circulating t... |
OMIM:102700 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Conjunctivitis, Panhypogammaglobulinemia, Recurrent respiratory infections, Bronchiectasis, Decre... |
OMIM:601495 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent aphthous stomatitis, Chronic oral candidiasis, Juvenile rheumatoid arthritis, Skin rash... |
ORPHA:275 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory insufficiency, Desquamative interstitial pneumonitis, Bronchiectasis, Decreased DLCO,... |
OMIM:610913 |
Ciliary Dyskinesia, Primary, 17 |
|
Bronchiectasis, Chronic sinusitis, Recurrent otitis media, Chronic rhinitis, Cough, Recurrent res... |
OMIM:614679 |
Ciliary Dyskinesia, Primary, 34 |
|
Decreased nasal nitric oxide, Bronchiectasis, Reduced respiratory ciliary beating frequency, Recu... |
OMIM:617091 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent bacterial skin infections, Recurrent cutaneous fungal infections, Reduced natural kille... |
ORPHA:276 |
Felty Syndrome |
|
Splenomegaly, Rhinitis, Anemia, Neutropenia, Arthritis, Pleuritis, Synovitis, Recurrent pharyngit... |
ORPHA:47612 |
Ciliary Dyskinesia, Primary, 15 |
|
Chronic bronchitis, Bronchiectasis, Chronic sinusitis, Recurrent otitis media, Recurrent pneumoni... |
OMIM:613808 |
Ciliary Dyskinesia, Primary, 12 |
|
Decreased nasal nitric oxide, Bronchiectasis, Chronic pulmonary obstruction, Chronic sinusitis, C... |
OMIM:612650 |
Neutropenia, Severe Congenital, X-Linked |
|
Decreased CD4:CD8 ratio, Eczema, Monocytopenia, Neutropenia |
OMIM:300299 |
Common Variable Immunodeficiency |
|
Splenomegaly, Recurrent respiratory infections, Bronchiectasis, Decreased circulating antibody le... |
ORPHA:1572 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, Neutropenia, B lymphocytopenia |
OMIM:613107 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neutropenia, Eosinophilia |
OMIM:257100 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Anemia, Increased circulating antibody level, Extramedullary hematopoiesis, Thrombocy... |
OMIM:615285 |
Autosomal Agammaglobulinemia |
|
Conjunctivitis, Osteomyelitis, Recurrent respiratory infections, Bronchiectasis, Neutropenia, Hep... |
ORPHA:33110 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Decreased proportion of CD4-positive helper T cells, T lymphocytopenia, Recurrent lower respirato... |
ORPHA:169154 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Recurrent aphthous stomatitis, Chronic oral candidiasis, B lymphocytopenia, Recurrent otitis medi... |
OMIM:301078 |
Scedosporiosis |
|
Bronchitis, Septic arthritis, Endocarditis, Osteomyelitis, Pleural empyema, Pleuritis, Abnormal r... |
ORPHA:449280 |
Ciliary Dyskinesia, Primary, 43 |
|
Bronchiectasis, Productive cough, Chronic sinusitis, Chronic rhinitis, Recurrent upper respirator... |
OMIM:618699 |
Pgm3-Cdg |
|
T lymphocytopenia, Bronchiectasis, Eczema, Eosinophilia, Recurrent skin infections, Decreased pro... |
ORPHA:443811 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgE, Decreased circulating IgA level, Increased circulating IgM level, Neut... |
OMIM:606843 |
Bare Lymphocyte Syndrome, Type I |
|
Bronchiectasis, Recurrent bronchitis, Chronic sinusitis, Emphysema, Bronchiolitis, Chronic otitis... |
OMIM:604571 |
Immunodeficiency 43 |
|
Reduced natural killer cell count, Decreased specific antibody response to polysaccharide vaccine... |
OMIM:241600 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Pneumonia |
ORPHA:85179 |
Ciliary Dyskinesia, Primary, 16 |
|
Bronchiectasis, Chronic sinusitis, Chronic rhinitis, Abnormal ciliary motility, Chronic otitis me... |
OMIM:614017 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Reduced natural killer cell count, Chronic bronchitis, T lymphocytopenia, Bronchiectasis, Sinusit... |
OMIM:242860 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Aspiration pneumonia, Dyspnea, Cough, Respiratory failure, Respiratory failure requiring assisted... |
ORPHA:90117 |
Omenn Syndrome |
|
Anemia, Thyroiditis, Autoimmunity, Eosinophilia, Erythroderma, Leukocytosis, Pneumonia, Splenomeg... |
ORPHA:39041 |
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome |
|
Neonatal asphyxia, Congenital laryngeal stridor, Bronchiectasis |
ORPHA:2375 |
Chronic Beryllium Disease |
|
Respiratory insufficiency, Reticulonodular pattern on pulmonary HRCT, Abnormal respiratory system... |
ORPHA:133 |
Whim Syndrome |
|
Lymphadenitis, Respiratory tract infection, Neutropenia, Bronchiectasis, Decreased circulating an... |
ORPHA:51636 |
X-Linked Agammaglobulinemia |
|
Conjunctivitis, Anemia, Osteomyelitis, Neutropenia, Hepatitis, Skin rash, Arthritis, Autoimmunity... |
ORPHA:47 |
Sarcoidosis, Susceptibility To, 2 |
|
Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Pneumothorax, Bronch... |
OMIM:612387 |
Immunodeficiency 22 |
|
Anemia, Decreased circulating total IgM, Chronic oral candidiasis, Autoimmunity, Decreased circul... |
OMIM:615758 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
T lymphocytopenia, Bronchiectasis, Pyoderma, Recurrent bronchopulmonary infections, Lymphopenia, ... |
OMIM:242700 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Panhypogammaglobulinemia, T lymphocytopenia, Recurrent otitis media, Lymphopenia, Impaired lympho... |
OMIM:600802 |
Cryptogenic Organizing Pneumonia |
|
Pneumothorax, Neutrophilia, Hypoxemia, Respiratory distress, Crackles, Restrictive ventilatory de... |
ORPHA:1302 |
Ciliary Dyskinesia, Primary, 30 |
|
Respiratory insufficiency, Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Resp... |
OMIM:616037 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Lymphadenitis, Abnormal natural killer cell count, Decreased circulating total IgM, Decreased cir... |
ORPHA:331206 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Lymphadenitis, Salmonella osteomyelitis, Pneumonia, Abnormal circulating interleukin concentration |
ORPHA:319552 |
Melioidosis |
|
Septic arthritis, Respiratory tract infection, Brain abscess, Prostatitis, Hepatitis, Splenic abs... |
ORPHA:31202 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Panhypogammaglobulinemia, B lymphocytopenia, Lymphopenia, Abnormally low T cell receptor excision... |
OMIM:602450 |
Severe Acute Respiratory Syndrome |
|
Hypoxemia, Respiratory distress, Dyspnea, Cough, Respiratory failure requiring assisted ventilati... |
ORPHA:140896 |
Lymphoproliferative Syndrome 1 |
|
Leukopenia, Anemia, Decreased circulating antibody level, Autoimmunity, Stomatitis, Pancytopenia,... |
OMIM:613011 |
Oligoarticular Juvenile Idiopathic Arthritis |
|
Oligoarthritis, Rheumatoid arthritis, Autoimmunity, Uveitis, Increased circulating interferon-gam... |
ORPHA:85410 |
Ciliary Dyskinesia, Primary, 19 |
|
Rhinitis, Chronic bronchitis, Bronchiectasis, Respiratory insufficiency due to defective ciliary ... |
OMIM:614935 |
Ciliary Dyskinesia, Primary, 38 |
|
Rhinitis, Decreased nasal nitric oxide, Bronchiectasis, Productive cough, Immotile cilia, Chronic... |
OMIM:618063 |
Fusariosis |
|
Maculopapular exanthema, Brain abscess, Osteomyelitis, Neutropenia, Bronchiectasis, Productive co... |
ORPHA:228119 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Osteomyelitis, Decreased circulating total IgM, B lymphocytopenia, Decreased circulating antibody... |
OMIM:301081 |
Igg4-Related Aortitis |
|
Hypereosinophilia, Increased circulating IgG4 level, Increased circulating antibody level, Asthma... |
ORPHA:449400 |
Ciliary Dyskinesia, Primary, 13 |
|
Bronchiectasis, Immotile cilia, Recurrent bronchitis, Recurrent sinusitis, Recurrent otitis media... |
OMIM:613193 |
Lymphoid Interstitial Pneumonia |
|
Respiratory tract infection, Subpleural interstitial thickening, Bronchiectasis, Rheumatoid arthr... |
ORPHA:79128 |
Purine Nucleoside Phosphorylase Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Pure red cell aplasia, Lymphopenia, Autoimm... |
OMIM:613179 |
Ciliary Dyskinesia, Primary, 22 |
|
Rhinitis, Chronic bronchitis, Decreased nasal nitric oxide, Bronchiectasis, Respiratory insuffici... |
OMIM:615444 |
Panbronchiolitis, Diffuse |
|
Bronchiectasis, Rhonchi, Hypoxemia, Crackles, Cough, Wheezing |
OMIM:604809 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Subcorneal Pustular Dermatosis |
|
Rheumatoid arthritis, Increased circulating antibody level, Autoimmunity, Pustule, Systemic lupus... |
ORPHA:48377 |
Avian Influenza |
|
Conjunctivitis, Leukopenia, Myelitis, Pneumothorax, Productive cough, Hepatitis, Hypoxemia, Respi... |
ORPHA:454836 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Anemia, Anti-glutamic acid decarboxylase antibody positivity, Hepatitis, Arthritis, Coombs-positi... |
OMIM:304790 |
Infant Acute Respiratory Distress Syndrome |
|
Respiratory tract infection, Pulmonary edema, Nasal flaring, Hypoxemia, Respiratory failure, Pneu... |
ORPHA:70587 |
Immunodeficiency 56 |
|
Panhypogammaglobulinemia, Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Cholangiti... |
OMIM:615207 |
Ciliary Dyskinesia, Primary, 1 |
|
Asplenia, Bronchiectasis, Immotile cilia, Recurrent bronchitis, Chronic sinusitis, Chronic rhinit... |
OMIM:244400 |
Agammaglobulinemia, X-Linked |
|
Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ... |
OMIM:300755 |
Autoimmune Lymphoproliferative Syndrome |
|
Coombs-positive hemolytic anemia, Reticulocytosis, Glomerulonephritis, Gastritis, Panniculitis, C... |
ORPHA:3261 |
Sweet Syndrome |
|
Oligoarthritis, Acute myeloid leukemia, Sterile abscess, Anemia, Increased circulating interleuki... |
ORPHA:3243 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Conjunctivitis, Septic arthritis, Panhypogammaglobulinemia, Prostatitis, Pyoderma, Enteroviral he... |
OMIM:307200 |
Immunodeficiency 21 |
|
Anemia, Myeloid leukemia, Osteomyelitis, Monocytopenia, B lymphocytopenia, Reduced natural killer... |
OMIM:614172 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Respiratory failure, Aspiration pneumonia, Neonatal respiratory distress |
OMIM:619057 |
Thymoma |
|
Decreased circulating antibody level, Rheumatoid arthritis, Anti-acetylcholine receptor antibody ... |
ORPHA:99867 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
T lymphocytopenia, Neutropenia, Juvenile rheumatoid arthritis, Rheumatoid arthritis, Autoimmunity... |
OMIM:607944 |
Immunodeficiency 23 |
|
Neutropenia, Bronchiectasis, Allergic rhinitis, Asthma, Hemolytic anemia, Eczema, Membranoprolife... |
OMIM:615816 |
Complement Factor B Deficiency |
|
Peritonitis, Pneumonia |
OMIM:615561 |
Immunodeficiency 91 And Hyperinflammation |
|
Abnormal pulmonary interstitial morphology, Pulmonary hemorrhage, Neutrophilia, Membranoprolifera... |
OMIM:619644 |
Anemia, Sideroblastic, 5 |
|
Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia |
OMIM:619523 |
Gamma-Heavy Chain Disease |
|
Anemia, Rheumatoid arthritis, Skin rash, Autoimmunity, Autoimmune thrombocytopenia, Autoimmune he... |
ORPHA:100026 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Desquamative interstitial pneumonitis, Absent bronchoalveolar surfactant-protein C, Paraseptal em... |
OMIM:610921 |
Aregenerative Anemia |
|
Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Pancytopeni... |
ORPHA:101096 |
Bacterial Toxic-Shock Syndrome |
|
Septic arthritis, Fasciitis, Myositis, Glomerulonephritis, Recurrent skin infections, Thrombocyto... |
ORPHA:36234 |
X-Linked Centronuclear Myopathy |
|
Respiratory failure requiring assisted ventilation, Pneumonia, Respiratory distress, Recurrent re... |
ORPHA:596 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Abnormal natural killer cell count, Pulmonary hemorrhage, Anemia, Panhypogammaglobulinemia, T lym... |
ORPHA:79124 |
Acute Interstitial Pneumonia |
|
Nodular pattern on pulmonary HRCT, Reduced hematocrit, Bronchiectasis, Subpleural honeycombing, P... |
ORPHA:79126 |
Immunodeficiency 58 |
|
Recurrent aphthous stomatitis, Chronic bronchitis, Bronchiectasis, Decreased circulating antibody... |
OMIM:618131 |
Spondyloenchondrodysplasia |
|
Juvenile rheumatoid arthritis, Hepatitis, Arthritis, Skin rash, Granuloma, Autoimmunity, Pancytop... |
ORPHA:1855 |
Brucellosis |
|
Sacroiliac arthritis, Septic arthritis, Hip osteoarthritis, Pericarditis, Glomerulonephritis, Ple... |
ORPHA:1304 |
Pemphigus Erythematosus |
|
Malar rash, Anti-acetylcholine receptor antibody positivity, Autoimmunity, Systemic lupus erythem... |
ORPHA:79480 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Splenomegaly, Acute leukemia, Abnormal neutrophil count, Leukocytosis, Myeloproliferative disorde... |
ORPHA:3226 |
Good Syndrome |
|
Anemia, Bronchiectasis, Decreased circulating antibody level, Dyspnea, Sinusitis, Cough, Recurren... |
ORPHA:169105 |
Thymic Aplasia |
|
Chronic oral candidiasis, T lymphocytopenia, Coombs-positive hemolytic anemia, Thyroiditis, Atypi... |
ORPHA:83471 |
Omenn Syndrome |
|
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Eosinophilia, Eryt... |
OMIM:603554 |
Thrombocytopenia 5 |
|
Epistaxis, Anemia, Thrombocytopenia, Neutropenia |
OMIM:616216 |
Immunodeficiency 40 |
|
Respiratory tract infection, Chronic oral candidiasis, T lymphocytopenia, Interstitial pneumoniti... |
OMIM:616433 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Anemia, Autoimmunity, Pancytopenia, Hemophagocytosis, Panniculitis, Splenomegaly |
OMIM:618398 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Juvenile rheumatoid arthritis, Skin rash, Autoimmunity, Pericarditis, Pleural effusion, Splenomeg... |
ORPHA:85414 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Tubulointerstitial nephritis, Hepatitis, Skin rash, Thyroiditis, Interstitial pneumonitis, Lympho... |
ORPHA:139402 |
X-Linked Severe Congenital Neutropenia |
|
Neutropenia, Monocytopenia |
ORPHA:86788 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased circulating interleukin 6 concentration, Pulmonary edema, Abnormality of serum cytokine... |
ORPHA:542323 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Autoimmunity, Chronic otitis media, Thrombocytopenia, Pneumonia, Splenomegaly |
ORPHA:169090 |
Idiopathic Aplastic Anemia |
|
Anemia, Reticulocytopenia, Pancytopenia, Autoimmune antibody positivity, Epistaxis, Thrombocytope... |
ORPHA:88 |
Ciliary Dyskinesia, Primary, 2 |
|
Bronchiectasis, Immotile cilia, Respiratory distress, Sinusitis, Otitis media, Recurrent respirat... |
OMIM:606763 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Impaired neutrophil chemotaxis, Neutrophilia, Abnormally low T cell receptor excision circle leve... |
OMIM:608203 |
Meconium Aspiration Syndrome |
|
Pulmonary arterial hypertension, Aspiration pneumonia, Pneumothorax, Hypoxemia, Respiratory distr... |
ORPHA:70588 |
Immunodeficiency 77 |
|
Cutaneous abscess, Chronic pulmonary obstruction, Bronchiectasis |
OMIM:619223 |
Adult-Onset Still Disease |
|
Hepatitis, Skin rash, Pleuritis, Arthritis, Recurrent pharyngitis, Neutrophilia, Pericarditis, Re... |
ORPHA:829 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Respiratory failure, Hepatosplenomegaly, Recurrent aspiration pneumonia, Respiratory insufficienc... |
ORPHA:2590 |
Sjogren Syndrome |
|
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Autoimmunity, Rheumatoid arthritis |
OMIM:270150 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Intraalveolar phosph... |
ORPHA:217563 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Enterocolitis, Recurrent respiratory infections, Hypoplasia of the thymus, Decreased circulating ... |
OMIM:243150 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Respiratory insufficiency, Aspiration pneumonia, Bronchiectasis, Apnea, Neutropenia |
OMIM:618253 |
Autoimmune Polyendocrinopathy Type 4 |
|
Tubulointerstitial nephritis, Leukopenia, Abnormal pulmonary interstitial morphology, Atrophic ga... |
ORPHA:227990 |
Riddle Syndrome |
|
Bronchitis, Abnormal pulmonary interstitial morphology, Decreased circulating total IgM, Arthriti... |
ORPHA:420741 |
Bronchogenic Cyst |
|
Abnormal pleura morphology, Pneumonia, Dyspnea, Cough, Bronchogenic cyst, Pulmonary cyst, Atelect... |
ORPHA:2357 |
X-Linked Lymphoproliferative Disease |
|
T lymphocytopenia, Hepatosplenomegaly, Increased T cell count, Colitis, Aplastic anemia, Splenome... |
ORPHA:2442 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Pulmonary arterial hypertension, Enterocolitis, T lymphocytopenia, Bronchiectasis, Inflammatory a... |
ORPHA:391487 |
Autoimmune Polyendocrinopathy Type 3 |
|
Tubulointerstitial nephritis, Leukopenia, Abnormal pulmonary interstitial morphology, Atrophic ga... |
ORPHA:227982 |
Primary Ciliary Dyskinesia |
|
Asplenia, Respiratory tract infection, Respiratory failure, Bronchiectasis, Productive cough, Pol... |
ORPHA:244 |
Graft Versus Host Disease |
|
Maculopapular exanthema, Inflammatory abnormality of the skin, Arthritis, Inflammatory abnormalit... |
ORPHA:39812 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Skin rash, Neutrophilia, Increased circulating IgA level, Panniculitis, Increased circulating IgM... |
OMIM:617099 |
Congenital Tracheomalacia |
|
Respiratory insufficiency, Pneumothorax, Bronchiectasis, Productive cough, Pulmonary hypoplasia, ... |
ORPHA:95430 |
Psoriasis 14, Pustular |
|
Oligoarthritis, Neutrophilia, Cholangitis, Pustule, Leukocytosis, Psoriasiform dermatitis |
OMIM:614204 |
Cryptococcosis |
|
Osteomyelitis, Nodular pattern on pulmonary HRCT, Prostatitis, Lymphoid leukemia, Autoimmunity, R... |
ORPHA:1546 |
Nocardiosis |
|
Brain abscess, Pneumothorax, Scleritis, Productive cough, Pericarditis, Pleural effusion, Pneumon... |
ORPHA:31204 |
Infection-Related Hemolytic Uremic Syndrome |
|
Septic arthritis, Myocarditis, Respiratory tract infection, Brain abscess, Increased circulating ... |
ORPHA:544482 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Sacroiliac arthritis, Malar rash, Oligoarthritis, Abnormality of tumor necrosis factor secretion,... |
ORPHA:85436 |
Microsporidiosis |
|
Brain abscess, Prostatitis, Myositis, Decreased proportion of CD4-positive helper T cells, Pneumo... |
ORPHA:2552 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Bronchiectasis, Decreased circulating antibody level, Thyroiditis, Recurrent bronchitis, Recurren... |
ORPHA:293978 |
Immunodeficiency 65, Susceptibility To Viral Infections |
|
Stomatitis, Bronchiectasis |
OMIM:618648 |
Timothy Syndrome |
|
Bronchitis, Pneumonia |
OMIM:601005 |
Bloom Syndrome |
|
Bronchitis, Acute myeloid leukemia, Respiratory tract infection, Rhinitis, Decreased circulating ... |
ORPHA:125 |
Shwachman-Diamond Syndrome |
|
Acute myeloid leukemia, Chronic neutropenia, Leukopenia, Osteomyelitis, Neutropenia, Anemia, Impa... |
ORPHA:811 |
Postinfectious Vasculitis |
|
Bacterial endocarditis, Inflammatory abnormality of the skin, Increased circulating antibody leve... |
ORPHA:48435 |
Immunodeficiency 82 With Systemic Inflammation |
|
T lymphocytopenia, Bronchiectasis, Gastritis, Colitis, Recurrent skin infections, Pneumonia, Sple... |
OMIM:619381 |
Insulin-Resistance Syndrome Type B |
|
Leukopenia, Skin rash, Autoimmunity, Nephritis, Systemic lupus erythematosus, Increased circulati... |
ORPHA:2298 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Pneumonia |
OMIM:608033 |
Listeriosis |
|
Septic arthritis, Brain abscess, Pericarditis, Pneumonia, Abscess, Splenic abscess, Endocarditis,... |
ORPHA:533 |
Mucoepithelial Dysplasia, Hereditary |
|
Keratoconjunctivitis, Fibrocystic lung disease, Chronic mucocutaneous candidiasis, Recurrent pneu... |
OMIM:158310 |
Coccidioidomycosis |
|
Exudative pleural effusion, Pericarditis, Panniculitis, Eosinophilia, Pneumonia, Abscess, Osteomy... |
ORPHA:228123 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Osteomyelitis, Skin rash, Neutrophilia, Stomatitis, Respiratory distress, Pustule, Pulmonary fibr... |
OMIM:612852 |
Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Perianal abscess, Bronchiectasis, Impaired neutrophil chemotaxis, Glomeru... |
ORPHA:2968 |
Orofaciodigital Syndrome Viii |
|
Recurrent aspiration pneumonia |
OMIM:300484 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Anemia, Brain abscess, Liver abscess, Neutrophilia, Abnormal lung morphology |
ORPHA:54251 |
Shigellosis |
|
Conjunctivitis, Myocarditis, Arthritis, Microangiopathic hemolytic anemia, Abscess, Ulcerative co... |
ORPHA:810 |
Bronchial Neuroendocrine Tumor |
|
Abnormal pulmonary interstitial morphology, Asthma, Bronchospasm, Dyspnea, Pneumonia, Nonproducti... |
ORPHA:97287 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Restrictive ventilatory defect, Pneumonia |
OMIM:253700 |
Relapsing Fever |
|
Leukopenia, Anemia, Neutrophilia, Epistaxis, Cough, Leukocytosis, Thrombocytopenia |
ORPHA:91547 |
Hyper-Igd Syndrome |
|
Lymphadenitis, Chronic oral candidiasis, Skin rash, Arthritis, Neutrophilia, Increased circulatin... |
OMIM:260920 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Apnea, Aspiration pneumonia, Episodic tachypnea |
ORPHA:79264 |
Cleft Velum |
|
Aspiration pneumonia, Recurrent otitis media |
ORPHA:99772 |
Zygomycosis |
|
Brain abscess, Pneumothorax, Fasciitis, Pericarditis, Pleural effusion, Gastritis, Colitis, Splen... |
ORPHA:73263 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphatic leukemia, C... |
ORPHA:98849 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Respiratory failure, Pneumonia, Abnormal respiratory system physiology, Recurrent respiratory inf... |
ORPHA:98905 |
Roifman-Chitayat Syndrome |
|
Arthritis, Pneumonia |
OMIM:613328 |
Hemorrhagic Fever-Renal Syndrome |
|
Tubulointerstitial nephritis, Anemia, Increased circulating interleukin 6 concentration, Acute tu... |
ORPHA:340 |
Alpha-Mannosidosis, Adult Form |
|
Pneumonia, Pancytopenia, Hepatosplenomegaly |
ORPHA:309288 |
Mohr-Tranebjaerg Syndrome |
|
Agammaglobulinemia, Aspiration pneumonia |
ORPHA:52368 |
Hereditary Bullous Dystrophy, Macular Type |
|
Pneumonia |
ORPHA:1867 |
Aicardi-Goutieres Syndrome 7 |
|
Splenomegaly, Atrophic gastritis, Anemia, Hemolytic anemia, Increased circulating antibody level,... |
OMIM:615846 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
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Abnormal T cell subset distribution, Reduced natural killer cell count, Decreased circulating tot... |
ORPHA:221139 |
Igg4-Related Kidney Disease |
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Increased circulating IgG4 level, Prostatitis, Sclerosing cholangitis, Pericarditis, Eosinophilia... |
ORPHA:449395 |
Familial Mediterranean Fever |
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Crohn's disease, Arthritis, Pleuritis, Neutrophilia, Erysipelas, Pericarditis, Pleural effusion, ... |
OMIM:249100 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
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Leukopenia, Anemia, Interstitial pneumonitis, Lymphopenia, Thrombocytopenia, Dyspnea, Increased m... |
OMIM:127550 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
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Central sleep apnea, Aspiration pneumonia, Pancreatitis |
ORPHA:431361 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
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Hypoventilation, Aspiration pneumonia, Respiratory distress, Apnea, Recurrent pneumonia |
ORPHA:314655 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
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Aspiration pneumonia, Tracheobronchial leiomyomatosis, Smooth muscle antibody positivity, Dyspnea... |
ORPHA:1018 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
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Aspiration pneumonia, Cough |
ORPHA:216866 |
Idiopathic Hypereosinophilic Syndrome |
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Eczema, Hepatosplenomegaly, Pleural effusion, Eosinophilia, Erythroderma, Colitis, Myeloprolifera... |
ORPHA:3260 |
Sarcoidosis, Susceptibility To, 1 |
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Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Bronchiectasis, Irid... |
OMIM:181000 |
Gaucher Disease, Type Ii |
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Anemia, Recurrent aspiration pneumonia, Apnea, Cough, Stridor, Thrombocytopenia, Bronchiolitis, S... |
OMIM:230900 |
Mirage Syndrome |
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Leukopenia, Anemia, Aspiration pneumonia, Lymphopenia, Thrombocytopenia, Hypoplastic spleen |
OMIM:617053 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
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Inflammatory abnormality of the skin, Episodic tachypnea, Respiratory distress, Pneumonia, Tachypnea |
ORPHA:26793 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
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Skin rash, Pneumonia, Normochromic anemia, Normocytic anemia |
ORPHA:247691 |
Hennekam-Beemer Syndrome |
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Respiratory insufficiency, Mastocytosis, Pneumonia |
ORPHA:2135 |
Fanconi Anemia, Complementation Group F |
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Leukopenia, Thrombocytopenia, Pneumonia, Anemia |
OMIM:603467 |
Bickerstaff Brainstem Encephalitis |
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Respiratory tract infection, Autoimmune antibody positivity, Hypercapnia, Dyspnea, Respiratory fa... |
ORPHA:79138 |
Gm1 Gangliosidosis |
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Aspiration pneumonia, Hepatosplenomegaly, Infectious encephalitis, Recurrent respiratory infectio... |
ORPHA:354 |
Infantile Neuroaxonal Dystrophy |
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Apneic episodes in infancy, Aspiration pneumonia |
ORPHA:35069 |
Proximal Spinal Muscular Atrophy |
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Respiratory failure, Hypoventilation, Recurrent aspiration pneumonia, Recurrent infections due to... |
ORPHA:70 |
Mercury Poisoning |
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Respiratory failure, Interstitial pneumonitis, Dyspnea, Respiratory distress |
ORPHA:330021 |
Geleophysic Dysplasia 3 |
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Respiratory failure, Sleep apnea, Pneumonia, Dyspnea |
OMIM:617809 |
Chops Syndrome |
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Aspiration pneumonia, Anomalous pulmonary venous return, Sleep apnea, Tracheomalacia, Chronic lun... |
OMIM:616368 |
Amoebiasis Due To Free-Living Amoebae |
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Respiratory tract infection, Increased red blood cell count, Granuloma, Pustule, Sinusitis, Infec... |
ORPHA:68 |
Cystic Fibrosis |
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Bronchiectasis, Asthma, Recurrent bronchopulmonary infections, Chronic sinusitis, Reduced forced ... |
OMIM:219700 |
Arnold-Chiari Malformation Type Ii |
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Apnea, Pneumonia, Inspiratory stridor |
ORPHA:1136 |
X-Linked Dystonia-Parkinsonism |
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Aspiration pneumonia |
ORPHA:53351 |
Atrial Septal Defect, Coronary Sinus Type |
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Pulmonary arterial hypertension, Exertional dyspnea, Increased pulmonary vascular resistance, Ano... |
ORPHA:99104 |
Atrial Septal Defect, Ostium Secundum Type |
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Pulmonary arterial hypertension, Exertional dyspnea, Breathing dysregulation, Increased pulmonary... |
ORPHA:99103 |
Mucopolysaccharidosis, Type Vi |
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Pulmonary arterial hypertension, Restrictive ventilatory defect, Recurrent upper respiratory trac... |
OMIM:253200 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
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Conjunctivitis, Anemia, Rhinitis, Neutropenia, Inflammatory abnormality of the skin, Skin rash, K... |
ORPHA:95455 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
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Aspiration pneumonia |
OMIM:619167 |
Lissencephaly Due To Lis1 Mutation |
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Aspiration pneumonia |
ORPHA:95232 |
Crimean-Congo Hemorrhagic Fever |
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Parotitis, Thrombocytopenia, Splenomegaly, Morbilliform rash, Epididymitis, Diffuse alveolar hemo... |
ORPHA:99827 |
Severe Generalized Junctional Epidermolysis Bullosa |
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Anemia, Pneumothorax, Pyoderma, Gastrointestinal inflammation, Respiratory distress, Dyspnea, Str... |
ORPHA:79404 |
Cornelia De Lange Syndrome 1 |
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Thrombocytopenia, Pneumonia, Otitis media |
OMIM:122470 |
Alpha-Mannosidosis, Infantile Form |
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Pneumonia, Otitis media, Pancytopenia, Hepatosplenomegaly |
ORPHA:309282 |
Mucopolysaccharidosis Type 3 |
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Respiratory tract infection, Splenomegaly, Aspiration pneumonia, Recurrent sinopulmonary infectio... |
ORPHA:581 |
Neuroleptic Malignant Syndrome |
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Pulmonary embolism, Aspiration pneumonia, Thrombocytosis, Leukocytosis, Thrombocytopenia |
ORPHA:94093 |
Cholera |
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Aspiration pneumonia, Hyperventilation, Tachypnea |
ORPHA:173 |
Marshall-Smith Syndrome |
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Pulmonary arterial hypertension, Aspiration pneumonia, Recurrent aspiration pneumonia, Apnea, Air... |
OMIM:602535 |
Degcags Syndrome |
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Pulmonary arterial hypertension, Leukopenia, Anemia, Rhinitis, Asthma, Abnormal spleen morphology... |
OMIM:619488 |
Gm1 Gangliosidosis Type 1 |
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Aspiration pneumonia, Hepatosplenomegaly |
ORPHA:79255 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
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Thrombocytopenia, Aspiration pneumonia, Splenomegaly, Seborrheic dermatitis |
OMIM:301072 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
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Pneumonia |
ORPHA:90790 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
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Hypoventilation, Aspiration pneumonia, Apnea, Restrictive ventilatory defect, Hypopnea |
OMIM:619482 |
Congenital Fiber-Type Disproportion Myopathy |
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Aspiration pneumonia, Weakness of muscles of respiration, Hypoxemia, Hypercapnia, Intercostal mus... |
ORPHA:2020 |
Tay-Sachs Disease |
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Aspiration pneumonia, Hepatosplenomegaly |
ORPHA:845 |
Plague |
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Lymphadenitis, Endocarditis, Splenomegaly, Enterocolitis, Erythema nodosum, Skin rash, Inflammato... |
ORPHA:707 |
Liver Disease, Severe Congenital |
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Leukopenia, Anemia, Status asthmaticus, Pulmonary edema, Lymphocytosis, Eczema, Recurrent otitis ... |
OMIM:619991 |
Yellow Fever |
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Increased circulating interleukin 6 concentration, Skin rash, Neutrophilia, Acute pancreatitis, I... |
ORPHA:99829 |
Adult-Onset Autosomal Dominant Leukodystrophy |
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Aspiration pneumonia |
ORPHA:99027 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
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Pulmonary arterial hypertension, Aspiration pneumonia, Asthma, Sleep apnea, Tracheomalacia, Chron... |
ORPHA:444077 |
Niemann-Pick Disease Type C |
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Respiratory insufficiency, Aspiration pneumonia, Hepatosplenomegaly, Bone-marrow foam cells, Abno... |
ORPHA:646 |
Coffin-Siris Syndrome |
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Recurrent upper respiratory tract infections, Aspiration pneumonia |
ORPHA:1465 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Recurrent respiratory infections, Asthma, Otitis media, Pneumonia, Obstructive sleep apnea |
ORPHA:353281 |
Wiedemann-Rautenstrauch Syndrome |
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Pneumonia, Hypoplasia of the thymus, Recurrent respiratory infections |
OMIM:264090 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Recurrent respiratory infections, Aspiration, Asthma, Otitis media, Pneumonia, Obstructive sleep ... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Recurrent respiratory infections, Aspiration, Asthma, Otitis media, Pneumonia, Obstructive sleep ... |
ORPHA:353277 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Anemia, Hypoventilation, Aspiration pneumonia, Central sleep apnea, Breathing dysregulation, Apne... |
ORPHA:438213 |
Semilobar Holoprosencephaly |
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Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia, Central apnea |
ORPHA:220386 |
Alobar Holoprosencephaly |
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Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia, Central apnea |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
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Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia, Central apnea |
ORPHA:93926 |
Lobar Holoprosencephaly |
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Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia, Central apnea |
ORPHA:93924 |
Doors Syndrome |
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Thrombocytosis, Aspiration pneumonia, Respiratory distress |
ORPHA:79500 |
Yunis-Varon Syndrome |
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Pulmonary arterial hypertension, Aspiration pneumonia |
OMIM:216340 |
Pmm2-Cdg |
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Pericarditis, Impaired neutrophil chemotaxis, Aspiration pneumonia, Respiratory distress |
ORPHA:79318 |