Immunodeficiency 24 |
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Decreased circulating IgG level, Recurrent viral infections, Respiratory tract infection, Severe ... |
OMIM:615897 |
Monocyte Chemotactic Disorder |
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Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:252250 |
Immunodeficiency 18 |
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Recurrent otitis media, Recurrent respiratory infections, Defective T cell proliferation, Recurre... |
OMIM:615615 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
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Recurrent bacterial infections, Abnormality of T cell physiology, Recurrent protozoan infections,... |
OMIM:308220 |
Interstitial Lung Disease 2 |
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Alveolar cell carcinoma, Increased circulating antibody level, Pulmonary fibrosis, Elevated bronc... |
OMIM:178500 |
Riddle Syndrome |
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Decreased circulating IgG level, Pulmonary fibrosis |
OMIM:611943 |
Immunodeficiency 60 And Autoimmunity |
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Recurrent sinopulmonary infections, Bronchiectasis, Ulcerative colitis, Decreased circulating tot... |
OMIM:618394 |
Candidiasis, Familial, 1 |
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Cutaneous anergy, Chronic mucocutaneous candidiasis, Recurrent viral infections |
OMIM:114580 |
Retinal Telangiectasia And Hypogammaglobulinemia |
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Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Immunodeficiency 85 And Autoimmunity |
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Recurrent respiratory infections, Eczema, Oligoarthritis, Persistent EBV viremia, Decreased circu... |
OMIM:619510 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
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Recurrent respiratory infections, Decreased lymphocyte proliferation in response to anti-CD3, Par... |
OMIM:618986 |
Idiopathic Pulmonary Fibrosis |
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Bronchiectasis, Abnormal pulmonary interstitial morphology, Honeycomb lung, Pulmonary fibrosis, R... |
ORPHA:2032 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
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Decreased circulating total IgM, Decreased circulating IgG level, Pulmonary fibrosis, Decreased c... |
OMIM:611926 |
Scedosporiosis |
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Unusual skin infection, Pericarditis, Sinusitis, Arthralgia/arthritis, Pneumonia, Bronchitis, Ost... |
ORPHA:449280 |
Cystic Hamartoma Of Lung And Kidney |
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Recurrent respiratory infections, Pulmonary fibrosis |
ORPHA:2111 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 3 |
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Pulmonary fibrosis, Usual interstitial pneumonia |
OMIM:616373 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
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Recurrent respiratory infections, Persistent CMV viremia, Recurrent viral infections, Severe vari... |
OMIM:300853 |
Caspase 8 Deficiency |
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Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... |
OMIM:607271 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
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Recurrent upper respiratory tract infections, Abnormal pulmonary interstitial morphology, Abnorma... |
OMIM:613101 |
Immunodeficiency With Hyper-Igm, Type 2 |
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Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ... |
OMIM:605258 |
Felty Syndrome |
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Episcleritis, Recurrent respiratory infections, Recurrent urinary tract infections, Sinusitis, Pe... |
ORPHA:47612 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 5 |
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Bone marrow hypocellularity, Pulmonary fibrosis |
OMIM:618674 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 4 |
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Honeycomb lung, Pulmonary fibrosis |
OMIM:616371 |
Immunodeficiency 35 |
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Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... |
OMIM:611521 |
Aspergillosis |
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Sinusitis, Osteomyelitis, Pneumonia, Keratitis, Hypersensitivity pneumonitis, Increased circulati... |
ORPHA:1163 |
Immunodeficiency 11A |
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Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Decreased circulating antibod... |
OMIM:615206 |
Immunodeficiency, Common Variable, 2 |
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Impaired T cell function, Recurrent pneumonia, Bronchiectasis, Recurrent bacterial infections, Co... |
OMIM:240500 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
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Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent ear infections, Rec... |
ORPHA:79124 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
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Acute pancreatitis, Eczema, Perianal abscess, Lymphadenitis, Recurrent pneumonia, Recurrent tonsi... |
OMIM:618935 |
Immunodeficiency With Hyper-Igm, Type 5 |
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Impaired Ig class switch recombination, Epididymitis, Increased circulating IgM level, Recurrent ... |
OMIM:608106 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
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Eczema, Increased circulating IgE level, Bronchiolitis obliterans, Increased circulating IgM leve... |
OMIM:617241 |
Pulmonary Hemosiderosis |
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Recurrent intrapulmonary hemorrhage, Pulmonary fibrosis |
OMIM:178550 |
Immunodeficiency, Common Variable, 1 |
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Impaired T cell function, Pneumonia, Recurrent pneumonia, Bronchiectasis, Decreased circulating t... |
OMIM:607594 |
Sarcoidosis, Susceptibility To, 2 |
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Erythema nodosum, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphology, Uveit... |
OMIM:612387 |
Hypersensitivity Pneumonitis, Familial |
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Hypersensitivity pneumonitis |
OMIM:145300 |
Sting-Associated Vasculopathy, Infantile-Onset |
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Recurrent respiratory infections, Myositis, Skin rash, Increased circulating IgA level, Pustule, ... |
OMIM:615934 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
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Pulmonary fibrosis, Bone marrow hypocellularity, Decreased circulating antibody level |
OMIM:619767 |
Bare Lymphocyte Syndrome, Type Ii |
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Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Cholangitis,... |
OMIM:209920 |
Acute Lung Injury |
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Increased circulating interleukin 6 concentration, Acute pancreatitis, Pneumonia, Diffuse alveola... |
ORPHA:178320 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
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Nonspecific interstitial pneumonia, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Desq... |
OMIM:610921 |
Immunodeficiency 66 |
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Recurrent skin infections, Pustule, Sepsis, Defective T cell proliferation, Meningitis |
OMIM:618847 |
Chronic Beryllium Disease |
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Pulmonary fibrosis, Hypersensitivity pneumonitis, Lymphocytic interstitial pneumonia, Reticulonod... |
ORPHA:133 |
Agammaglobulinemia, X-Linked |
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Sepsis, Decreased circulating IgE, Conjunctivitis, Decreased circulating IgG level, Infectious en... |
OMIM:300755 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
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Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Intralobular septal thickening, Des... |
OMIM:610913 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
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Reticular pattern on pulmonary HRCT, Bone marrow hypocellularity, Usual interstitial pneumonia, P... |
OMIM:614742 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
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Inflammatory abnormality of the skin, Sinusitis, Recurrent opportunistic infections, Recurrent up... |
ORPHA:277 |
Riddle Syndrome |
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Pneumonia, Bronchitis, Recurrent viral infections, Recurrent pneumonia, Abnormal pulmonary inters... |
ORPHA:420741 |
Acute Interstitial Pneumonia |
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Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Atelectasis, Bron... |
ORPHA:79126 |
Autosomal Recessive Spastic Paraplegia Type 70 |
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Abnormal pulmonary interstitial morphology |
ORPHA:401835 |
Bone Marrow Failure Syndrome 5 |
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Pulmonary fibrosis, Decreased circulating antibody level |
OMIM:618165 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2 |
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Bone marrow hypocellularity, Pulmonary fibrosis |
OMIM:614743 |
Wiskott-Aldrich Syndrome 2 |
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Defective T cell proliferation, Recurrent infections, Eczema, Reduced natural killer cell activity |
OMIM:614493 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
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Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Recurrent he... |
ORPHA:572 |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
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Erysipelas, Pulmonary fibrosis |
OMIM:615704 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
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Bronchiolitis, Atelectasis, Pulmonary fibrosis |
ORPHA:254361 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
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Bone marrow hypocellularity, Abnormal pleura morphology, Pulmonary fibrosis |
ORPHA:210136 |
Antisynthetase Syndrome |
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Recurrent respiratory infections, Myositis, Skin rash, Myocarditis, Abnormal pulmonary interstiti... |
ORPHA:81 |
Retinal Dystrophy With Or Without Extraocular Anomalies |
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Pulmonary fibrosis |
OMIM:617175 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
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Recurrent respiratory infections, Psoriasiform dermatitis, Decreased lymphocyte proliferation in ... |
OMIM:606367 |
Immunodeficiency 96 |
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Eczema, Recurrent infections, Decreased circulating total IgM, Defective T cell proliferation, Re... |
OMIM:619774 |
Pulmonary Nodular Lymphoid Hyperplasia |
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Nodular pattern on pulmonary HRCT |
ORPHA:60026 |
Reticular Dysgenesis |
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Sepsis, Impaired T cell function, Lack of T cell function |
OMIM:267500 |
Immunodeficiency With Hyper-Igm, Type 1 |
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Sepsis, Decreased circulating IgE, Decreased circulating IgG level, Meningitis, Impaired memory B... |
OMIM:308230 |
Interstitial Lung Disease 1 |
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Nonspecific interstitial pneumonia, Intralobular septal thickening, Elevated bronchoalveolar lava... |
OMIM:619611 |
Asbestos Intoxication |
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Atelectasis, Pleural thickening, Abnormal pulmonary interstitial morphology, Pulmonary fibrosis, ... |
ORPHA:2302 |
Immunodeficiency 13 |
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Recurrent shingles, Recurrent upper respiratory tract infections, Bronchiolitis obliterans organi... |
OMIM:615518 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Sinusitis, Sepsis, Recurrent candida infections, Chronic otitis media, Opportunistic infection, M... |
ORPHA:83471 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
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Crescentic glomerulonephritis, Abnormal pulmonary interstitial morphology, Arthritis, Hemosiderin... |
OMIM:616414 |
Mixed Connective Tissue Disease |
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Myositis, Pericarditis, Skin rash, Gastritis, Myocarditis, Abnormal pulmonary interstitial morpho... |
ORPHA:809 |
Lymphoid Interstitial Pneumonia |
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Multiple pulmonary cysts, Skin rash, Eczema, Respiratory tract infection, Severe viral infection,... |
ORPHA:79128 |
Idiopathic Pulmonary Hemosiderosis |
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Glomerulonephritis, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Pulmonary fib... |
ORPHA:99931 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
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Eczema, Desquamative interstitial pneumonitis, Recurrent upper respiratory tract infections, Decr... |
OMIM:615952 |
Hermansky-Pudlak Syndrome 2 |
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Reduced natural killer cell activity, Impaired ADP-induced platelet aggregation, Recurrent pneumo... |
OMIM:608233 |
Hereditary Mucoepithelial Dysplasia |
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Recurrent respiratory infections, Pulmonary fibrosis |
ORPHA:1839 |
Limited Cutaneous Systemic Sclerosis |
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Pulmonary fibrosis |
ORPHA:220402 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
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Recurrent respiratory infections, Atelectasis, Elevated bronchoalveolar lavage fluid neutrophil p... |
OMIM:610978 |
Niemann-Pick Disease, Type B |
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Recurrent respiratory infections, Abnormal pulmonary interstitial morphology |
OMIM:607616 |
Autoimmune Lymphoproliferative Syndrome |
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Gastritis, Glomerulonephritis, Increased circulating IgA level, Increased circulating IgE level, ... |
ORPHA:3261 |
Immunodeficiency 91 And Hyperinflammation |
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Membranoproliferative glomerulonephritis, Maculopapular exanthema, BCGosis, Recurrent pneumonia, ... |
OMIM:619644 |
Immunodeficiency 97 With Autoinflammation |
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Recurrent sinopulmonary infections, Recurrent urinary tract infections, Recurrent skin infections... |
OMIM:619802 |
Immunodeficiency 58 |
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Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Bronchiectasis, Decreased c... |
OMIM:618131 |
Fanconi Renotubular Syndrome 5 |
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Emphysema, Pulmonary fibrosis, Lung adenocarcinoma |
OMIM:618913 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
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Recurrent respiratory infections, Skin rash, Partial IgA deficiency, Recurrent viral infections, ... |
ORPHA:35078 |
Sarcoidosis, Susceptibility To, 1 |
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Abnormality of T cell physiology, Iridocyclitis, Bronchiectasis, Abnormal pulmonary interstitial ... |
OMIM:181000 |
Reactive Arthritis |
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Recurrent urinary tract infections, Pericarditis, Osteomyelitis, Abnormal pleura morphology, Pust... |
ORPHA:29207 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
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Pneumonia, Decreased lymphocyte proliferation in response to anti-CD3, Meningitis, Recurrent uppe... |
OMIM:600802 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
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Pulmonary fibrosis |
ORPHA:457240 |
Braddock Syndrome |
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Pulmonary fibrosis |
ORPHA:52047 |
Polymyositis |
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Arthritis, Pericarditis, Abnormal pulmonary interstitial morphology, Pulmonary fibrosis |
ORPHA:732 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Recurrent viral infections, Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiec... |
OMIM:242700 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
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Osteomyelitis, Skin rash, Pustule, Pulmonary fibrosis, Stomatitis |
OMIM:612852 |
Idiopathic Chronic Eosinophilic Pneumonia |
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Atelectasis, Hypersensitivity pneumonitis, Increased circulating IgE level, Atopic dermatitis, Pl... |
ORPHA:2902 |
Diffuse Alveolar Hemorrhage |
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Irregular septal thickening on pulmonary HRCT, Pulmonary fibrosis |
ORPHA:90060 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Recurrent respiratory infections, Atelectasis, Recurrent infections, Pulmonary fibrosis, Decrease... |
OMIM:618278 |
Q Fever |
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Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Unusual infection, Myocarditis, ... |
ORPHA:781 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
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Skin rash, Recurrent viral infections, Lymphadenitis, Decreased circulating antibody level, Decre... |
ORPHA:331206 |
Purine Nucleoside Phosphorylase Deficiency |
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Recurrent urinary tract infections, Sinusitis, Pneumonia, Impaired T cell function, Recurrent vir... |
OMIM:613179 |
Interstitial Pneumonitis, Desquamative, Familial |
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Desquamative interstitial pneumonitis, Recurrent upper respiratory tract infections, Type II pneu... |
OMIM:263000 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
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Respiratory tract infection, Hypersensitivity pneumonitis, Bronchiectasis, Honeycomb lung, Chroni... |
ORPHA:79127 |
Granulomatosis With Polyangiitis |
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Recurrent respiratory infections, Pericarditis, Recurrent intrapulmonary hemorrhage, Sinusitis, S... |
ORPHA:900 |
Hermansky-Pudlak Syndrome 4 |
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Pulmonary fibrosis |
OMIM:614073 |
Typhoid |
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Skin rash, Infectious encephalitis, Abnormal pulmonary interstitial morphology |
ORPHA:99745 |
46,Xx Gonadal Dysgenesis |
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Pulmonary fibrosis |
ORPHA:243 |
Fusariosis |
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Brain abscess, Fasciitis, Lung abscess, Sinusitis, Pneumonia, Myositis, Maculopapular exanthema, ... |
ORPHA:228119 |
Diffuse Cutaneous Systemic Sclerosis |
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Arthritis, Pulmonary fibrosis |
ORPHA:220393 |
Brain-Lung-Thyroid Syndrome |
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Recurrent respiratory infections, Recurrent pneumonia, Pulmonary fibrosis, Abnormal pulmonary int... |
ORPHA:209905 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
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Emphysema, Pulmonary fibrosis |
OMIM:620365 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
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Bone marrow hypocellularity, Pulmonary fibrosis |
OMIM:224230 |
Hermansky-Pudlak Syndrome 1 |
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Inflammation of the large intestine, Colitis, Pulmonary fibrosis |
OMIM:203300 |
Systemic Sclerosis |
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Pericarditis, Osteomyelitis, Recurrent skin infections, Glomerulonephritis, Myocarditis, Abnormal... |
ORPHA:90291 |
Primary Ciliary Dyskinesia |
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Recurrent sinopulmonary infections, Peribronchovascular interstitial thickening, Pulmonary situs ... |
ORPHA:244 |
Chitayat Syndrome |
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Recurrent respiratory infections, Abnormal pulmonary interstitial morphology |
OMIM:617180 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
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Bone marrow hypocellularity, Pulmonary fibrosis |
OMIM:613989 |
Autoimmune Polyendocrinopathy Type 4 |
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Atrophic gastritis, Iridocyclitis, Abnormal pulmonary interstitial morphology, Chronic mucocutane... |
ORPHA:227990 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
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Interstitial pneumonitis, Bone marrow hypocellularity, Pulmonary fibrosis |
OMIM:127550 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
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Bone marrow hypocellularity, Pulmonary fibrosis |
OMIM:613990 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
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Respiratory tract infection, Bronchiolitis obliterans, Bronchiectasis, Pneumonia |
ORPHA:1303 |
Autoimmune Polyendocrinopathy Type 3 |
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Atrophic gastritis, Iridocyclitis, Abnormal pulmonary interstitial morphology, Chronic mucocutane... |
ORPHA:227982 |
Erdheim-Chester Disease |
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Osteomyelitis, Skin rash, Abnormal pulmonary interstitial morphology, Pulmonary fibrosis, Pleural... |
ORPHA:35687 |
Immune-Mediated Necrotizing Myopathy |
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Myocarditis, Myositis, Skin rash, Abnormal pulmonary interstitial morphology |
ORPHA:206569 |
Pulmonary Alveolar Microlithiasis |
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Bronchitis, Respiratory tract infection, Pleural thickening, Pneumothorax, Bronchiectasis, Subple... |
ORPHA:60025 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
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Intraalveolar phospholipid accumulation, Interstitial pneumonitis, Abnormal pulmonary interstitia... |
ORPHA:217563 |
Juvenile Dermatomyositis |
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Myositis, Pericarditis, Skin rash, Arthritis, Pulmonary fibrosis |
ORPHA:93672 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
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Increased inflammatory response, Increased circulating interleukin 6 concentration, Skin rash, In... |
ORPHA:542323 |
Gaucher Disease |
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Osteomyelitis, Osteoarthritis, Abnormal pulmonary interstitial morphology, Hepatitis, Increased c... |
ORPHA:355 |
Primary Sjögren Syndrome |
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Myositis, Chronic active hepatitis, Parotitis, Lymphocytic interstitial pneumonia, Bronchitis, Gl... |
ORPHA:289390 |
Gaucher Disease Type 1 |
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Osteoarthritis, Increased circulating antibody level, Abnormal pulmonary interstitial morphology |
ORPHA:77259 |
Interstitial Lung And Liver Disease |
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Intraalveolar phospholipid accumulation, Abnormal pulmonary interstitial morphology, Pulmonary fi... |
OMIM:615486 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
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Bone marrow hypocellularity, Pulmonary fibrosis |
OMIM:612199 |
Idiopathic Hypereosinophilic Syndrome |
|
Inflammatory abnormality of the skin, Cholangitis, Eczema, Chronic hepatitis, Arthritis, Colitis,... |
ORPHA:3260 |
Dermatomyositis |
|
Recurrent respiratory infections, Pericarditis, Myocarditis, Abnormal pulmonary interstitial morp... |
ORPHA:221 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Recurrent respiratory infections, Candida esophagitis, Eosinophilic infiltration of the esophagus... |
OMIM:618213 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
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Abnormal pulmonary interstitial morphology |
OMIM:619013 |
Brucellosis |
|
Bronchitis, Knee osteoarthritis, Increased circulating IgG level, Infectious encephalitis, Epidid... |
ORPHA:1304 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Atelectasis, Abnormal pulmonary interstitial morphology, Bronchiectasis, Recurrent otitis media, ... |
OMIM:620233 |
Niemann-Pick Disease, Type C2 |
|
Pulmonary fibrosis |
OMIM:607625 |
Overlap Myositis |
|
Arthritis, Severe infection, Abnormal pulmonary interstitial morphology, Rheumatoid arthritis |
ORPHA:206572 |
Al Amyloidosis |
|
Increased circulating antibody level, Abnormal pulmonary interstitial morphology, Pulmonary inter... |
ORPHA:85443 |
Wild Type Attr Amyloidosis |
|
Pleural effusion, Abnormal pulmonary interstitial morphology, Pulmonary edema |
ORPHA:330001 |
Wiskott-Aldrich Syndrome |
|
Recurrent herpes, Eczema, Reduced natural killer cell activity, Increased circulating IgA level, ... |
OMIM:301000 |
Gaucher Disease Type 3 |
|
Recurrent respiratory infections, Increased circulating antibody level, Abnormal pulmonary inters... |
ORPHA:77261 |
Sarcoidosis |
|
Maculopapular exanthema, Abnormal pleura morphology, Erythema nodosum, Abnormal lung morphology, ... |
ORPHA:797 |
Congenital Myopathy 21 With Early Respiratory Failure |
|
Lipoid pneumonia |
OMIM:620326 |
Hermansky-Pudlak Syndrome |
|
Pulmonary fibrosis |
ORPHA:79430 |
Kawasaki Disease |
|
Pericarditis, Skin rash, Recurrent pharyngitis, Myocarditis, Abnormal pulmonary interstitial morp... |
ORPHA:2331 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Desquamative interstitial pneumonitis, Intraalveolar phospholipid accumulation, Absent bronchoalv... |
OMIM:265120 |
Hermansky-Pudlak Syndrome 10 |
|
Recurrent respiratory infections, Abnormal pulmonary interstitial morphology |
OMIM:617050 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Inflammation of the large intestine, Decreased specific anti-polysaccharide antibody level, Impai... |
OMIM:614576 |
Dyskeratosis Congenita, X-Linked |
|
Conjunctivitis, Bone marrow hypocellularity, Blepharitis, Pulmonary fibrosis |
OMIM:305000 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Abnormal pulmonary interstitial morphology, Pulmonary fibrosis, Bacterial endocarditis |
ORPHA:2072 |
Bronchial Neuroendocrine Tumor |
|
Abnormal pulmonary interstitial morphology, Pneumonia |
ORPHA:97287 |
Gaucher Disease, Type I |
|
Abnormal pulmonary interstitial morphology |
OMIM:230800 |
Hereditary Orotic Aciduria |
|
Recurrent respiratory infections, Impaired T cell function |
ORPHA:30 |
Primary Fanconi Renotubular Syndrome |
|
Pulmonary fibrosis |
ORPHA:3337 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Acute infectious pneumonia, Crazy paving pattern |
ORPHA:264675 |
Aregenerative Anemia |
|
Abnormality of interleukin secretion, Bone marrow hypocellularity |
ORPHA:101096 |
Kikuchi-Fujimoto Disease |
|
Skin rash, Pustule, Myocarditis, Abnormal pulmonary interstitial morphology, Pleural effusion, Ma... |
ORPHA:50918 |
Knobloch Syndrome 2 |
|
Recurrent respiratory infections, Abnormal pulmonary interstitial morphology |
OMIM:618458 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Impaired T cell function, Recurrent candida infections |
OMIM:201100 |
Velocardiofacial Syndrome |
|
Pulmonary artery atresia, Recurrent infections, Impaired T cell function, Unilateral primary pulm... |
OMIM:192430 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Recurrent urinary tract infections, Emphysema, Abnormal pulmonary interstitial morphology |
OMIM:613658 |
Cryptococcosis |
|
Osteomyelitis, Pneumonia, Nodular pattern on pulmonary HRCT, Prostatitis, Peritonitis, Sepsis, Pl... |
ORPHA:1546 |
Chronic Graft Versus Host Disease |
|
Fasciitis, Urinary bladder inflammation, Pneumothorax, Bronchiectasis, Recurrent infections, Bron... |
ORPHA:99921 |
Progeroid Short Stature With Pigmented Nevi |
|
Allergic rhinitis, Allergic conjunctivitis, Impaired T cell function, Recurrent viral infections |
OMIM:176690 |
Orotic Aciduria |
|
Impaired T cell function |
OMIM:258900 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Recurrent respiratory infections, Abnormal pulmonary interstitial morphology |
OMIM:614748 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Crazy paving pattern, Intraalveolar phospholipid accumulation |
ORPHA:747 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Abnormality of T cell physiology, Psoriasiform dermatitis |
ORPHA:2237 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Abnormal pulmonary interstitial morphology |
ORPHA:77293 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... |
OMIM:130050 |
Goodpasture Syndrome |
|
Glomerulonephritis, Nodular pattern on pulmonary HRCT, Hemosiderin-laden macrophages in bronchoal... |
OMIM:233450 |