Emphysema, Hereditary Pulmonary |
|
Chronic pulmonary obstruction, Chronic bronchitis, Emphysema |
OMIM:130700 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Idiopathic Bronchiectasis |
|
Reduced FEV1/FVC ratio, Cachexia, Crackles, Acute infectious pneumonia, Wheezing, Recurrent lower... |
ORPHA:60033 |
Allergic Bronchopulmonary Aspergillosis |
|
Asthma, Abnormal eosinophil morphology, Respiratory insufficiency, Cough, Emphysema, Bronchiectas... |
ORPHA:1164 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Pulmonary sequestration, Hyperoxemia, Abnormal respiratory system physiolog... |
ORPHA:70589 |
Alpha-1-Antitrypsin Deficiency |
|
Panacinar emphysema, Chronic pulmonary obstruction, Chronic bronchitis, Splenomegaly, Wheezing, C... |
OMIM:613490 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Chronic bronchitis, Hypoxemia, Nonproducti... |
ORPHA:79127 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Lymphadenitis, Sepsis, B lymphocytopenia, Pancytopenia, Monocytopenia, Chronic bronchitis, Severe... |
OMIM:618986 |
Bare Lymphocyte Syndrome, Type I |
|
Bronchiolitis, Recurrent bronchitis, Chronic sinusitis, Emphysema, Bronchiectasis, Nasal polyposis |
OMIM:604571 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Emphysema |
OMIM:614100 |
Immunodeficiency 89 And Autoimmunity |
|
Asthma, Crohn's disease, Reduced circulating interleukin 27 concentration, Elevated circulating C... |
OMIM:619632 |
Chronic Beryllium Disease |
|
Reduced FEV1/FVC ratio, Lymphocytic interstitial pneumonia, Hypersensitivity pneumonitis, Respira... |
ORPHA:133 |
Cutis Laxa-Marfanoid Syndrome |
|
Emphysema |
ORPHA:171719 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Failure to thrive, Eczematoid dermatitis, Lymphopenia, Recurrent bronchopulmonary infections, Apl... |
OMIM:242700 |
Interstitial Lung Disease 2 |
|
Increased circulating antibody level, Alveolar cell carcinoma, Cough, Decreased DLCO, Usual inter... |
OMIM:178500 |
Alpha-1-Antitrypsin Deficiency |
|
Emphysema |
ORPHA:60 |
Birt-Hogg-Dubé Syndrome |
|
Pneumothorax, Pulmonary sequestration, Emphysema |
ORPHA:122 |
Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Emphysema |
OMIM:618307 |
Immunodeficiency 11 |
|
Decreased circulating antibody level, Pneumonia, Recurrent respiratory infections |
OMIM:615206 |
Immunodeficiency 51 |
|
Chronic furunculosis, Chronic oral candidiasis, Folliculitis, Recurrent cutaneous fungal infectio... |
OMIM:613953 |
Pulmonary Blastoma |
|
Pleuropulmonary blastoma, Cough, Recurrent pneumonia, Dyspnea, Weight loss |
ORPHA:64741 |
Felty Syndrome |
|
Sepsis, Bone marrow hypocellularity, Pericarditis, Rhinitis, Weight loss, Splenomegaly, Recurrent... |
ORPHA:47612 |
Idiopathic Achalasia |
|
Decreased prealbumin level, Wheezing, Cough, Recurrent aspiration pneumonia, Bronchitis, Weight loss |
ORPHA:930 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Increased circulating ferritin concentration, Colitis, Hemophagocytosis, Splenomegaly, Abnormal n... |
OMIM:613101 |
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
|
Emphysema |
OMIM:210050 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Splenomegaly, Abnormal pulmonary interstitial morphology, Decreased DLCO,... |
OMIM:607616 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 4 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Decreased DLCO, Co... |
OMIM:616371 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 3 |
|
Reduced forced expiratory volume in one second, Decreased DLCO, Reduced forced vital capacity, Us... |
OMIM:616373 |
Sarcoidosis, Susceptibility To, 2 |
|
Bronchiectasis, Elevated bronchoalveolar lavage fluid lymphocyte proportion, Hypoxemia, Splenomeg... |
OMIM:612387 |
Immunodeficiency 60 And Autoimmunity |
|
Crohn's disease, Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Bronc... |
OMIM:618394 |
Idiopathic Pulmonary Fibrosis |
|
Crackles, Reticular pattern on pulmonary HRCT, Abnormal pulmonary interstitial morphology, Cough,... |
ORPHA:2032 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgA level, Oligoarthritis, Lymphopenia, Decreased circulating IgG level, Re... |
OMIM:619510 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Dyspnea, Plasmacytosis, Cough, Nodular pattern on pulmonary HRCT |
ORPHA:60026 |
Immunodeficiency 48 |
|
Recurrent candida infections, Failure to thrive, Eczematoid dermatitis, Splenomegaly, Panhypogamm... |
OMIM:269840 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Apnea, Absent bronchoalveolar surfactant-protein C, Desquamative interstiti... |
OMIM:610921 |
Pulmonary Hemosiderosis |
|
Recurrent intrapulmonary hemorrhage, Respiratory insufficiency, Pulmonary fibrosis, Iron deficien... |
OMIM:178550 |
Aspergillosis |
|
Keratitis, Unusual CNS infection, Invasive pulmonary aspergillosis, Abnormality on pulmonary func... |
ORPHA:1163 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Failure to thrive, Neutropenia, Recurrent bacterial infections, Recurrent bronchitis, Recurrent o... |
OMIM:613501 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Absent bronchoalveolar surfactant-protein C, Desquamative interstitial pneu... |
OMIM:610913 |
Tuberculosis |
|
Abnormal lung morphology, Weight loss, Cough |
ORPHA:3389 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Increased circulating ferritin concentration, Hepatosplenomegaly, Crackles, Abnormal pleura morph... |
ORPHA:210136 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Failure to thrive, Otitis media, Purulent rhinitis, Recurrent opportunistic infections, B lymphoc... |
OMIM:601457 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Periodontitis, Neutrophilia, Bronchiolitis, Pneumonia, Recurrent otitis media, Reduction of neutr... |
OMIM:266265 |
Immunodeficiency 104 |
|
Otitis media, Splenomegaly, Eczema, Recurrent opportunistic infections, T lymphocytopenia, Chroni... |
OMIM:608971 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Recurrent gastroenteritis, Pulmonary hemorrhage, Panhypogammaglobulinemia, Pancytopenia, Recurren... |
ORPHA:79124 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1 |
|
Usual interstitial pneumonia, Crackles, Aplastic anemia, Myeloid leukemia, Reticular pattern on p... |
OMIM:614742 |
Cystic Hamartoma Of Lung And Kidney |
|
Respiratory insufficiency, Pulmonary fibrosis, Recurrent respiratory infections |
ORPHA:2111 |
Hypophosphatasia |
|
Respiratory insufficiency, Anemia, Failure to thrive in infancy, Emphysema |
ORPHA:436 |
Scedosporiosis |
|
Unusual CNS infection, Sepsis, Pneumonia, Pericarditis, Arthralgia/arthritis, Respiratory failure... |
ORPHA:449280 |
Severe Combined Immunodeficiency, X-Linked |
|
Failure to thrive, Decreased circulating IgA level, Recurrent fungal infections, Decreased circul... |
OMIM:300400 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Crohn's disease, Onychomycosis, Lymphopenia, Splenomegaly, Recurrent tonsillitis, Hepatosplenomeg... |
OMIM:618935 |
Common Variable Immunodeficiency |
|
Lymphopenia, Emphysema, Splenomegaly, Otitis media, Autoimmune thrombocytopenia, Chronic otitis m... |
ORPHA:1572 |
Caspase 8 Deficiency |
|
Failure to thrive, Decreased circulating IgA level, Asthma, Decreased circulating IgG level, Recu... |
OMIM:607271 |
Diffuse Alveolar Hemorrhage |
|
Airway obstruction, Pulmonary venous hypertension, Increased DLCO, Irregular septal thickening on... |
ORPHA:90060 |
Immunodeficiency 52 |
|
Failure to thrive, Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemo... |
OMIM:617514 |
Immunodeficiency 91 And Hyperinflammation |
|
Failure to thrive, Elevated circulating C-reactive protein concentration, Neutrophilia, Hemophago... |
OMIM:619644 |
Combined Immunodeficiency, X-Linked |
|
Sinusitis, Decreased circulating IgG level, Otitis media, Decreased proportion of CD8-positive T ... |
OMIM:312863 |
Histiocytosis, Familial Lipochrome |
|
Histiocytosis, Increased circulating antibody level, Increased alpha-globulin, Recurrent infections |
OMIM:235900 |
Specific Granule Deficiency 1 |
|
Absent neutrophil lactoferrin, Recurrent bacterial infections, Hyposegmentation of neutrophil nuc... |
OMIM:245480 |
Fanconi Renotubular Syndrome 5 |
|
Lung adenocarcinoma, Pulmonary fibrosis, Emphysema, Decreased DLCO |
OMIM:618913 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Failure to thrive, Neutropenia, Recurrent bacterial infections, Recurrent otitis media, Recurrent... |
OMIM:616022 |
Acute Interstitial Pneumonia |
|
Interlobular septal thickening, Elevated circulating C-reactive protein concentration, Subpleural... |
ORPHA:79126 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Failure to thrive, Elevated circulating C-reactive protein concentration, Lymphopenia, Increased ... |
OMIM:615934 |
Riddle Syndrome |
|
Decreased circulating IgG level, Pulmonary fibrosis |
OMIM:611943 |
Pneumocystosis |
|
Increased circulating antibody level, Chronic oral candidiasis, Multiple pulmonary cysts, Hypoxem... |
ORPHA:723 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... |
OMIM:607594 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Increased circulating antibody level, Lymphopenia, Glomerulonephritis, Plasmacytosis, Pneumonia, ... |
OMIM:247800 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6 |
|
Lymphopenia, Abnormally low T cell receptor excision circle level, Decreased circulating antibody... |
OMIM:619767 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Increased circulating ferritin concentration, Colitis, Folliculitis, Hemophagocytosis, Splenomega... |
OMIM:300635 |
Idiopathic Pulmonary Hemosiderosis |
|
Failure to thrive, Nodular pattern on pulmonary HRCT, Hepatosplenomegaly, Crackles, Reticular pat... |
ORPHA:99931 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Agammaglobulinemia, Recurrent infections, Recurrent respiratory infections, Neutropenia |
OMIM:615214 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Decreased circulating antibody level, Recurrent infections, Chronic bronchitis, Pneumonia |
OMIM:614069 |
Immunodeficiency 27A |
|
Histiocytosis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Increased circulating IgG level, T... |
OMIM:209950 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Pulmonary hemorrhage, Hemosiderin-laden ma... |
OMIM:616414 |
Immunodeficiency 50 |
|
Lymphopenia, Eczema, Recurrent urinary tract infections, Decreased circulating antibody level, Ne... |
OMIM:300988 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:611926 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Recurrent candida infections, Increased circulating antibody level, Lymphopenia, Decreased circul... |
ORPHA:169160 |
Immunodeficiency 13 |
|
Bronchiolitis obliterans organizing pneumonia, Lymphopenia, Recurrent upper respiratory tract inf... |
OMIM:615518 |
Lymphoid Interstitial Pneumonia |
|
Failure to thrive, Pulmonary venous hypertension, Subpleural interstitial thickening, Multiple pu... |
ORPHA:79128 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Respiratory distress, Osteomyelitis, Elevated circulating C-reactive protein concentration, Neutr... |
OMIM:612852 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Aspiration pneumonia, Upper airway obstruction, Dyspnea, Weight loss |
ORPHA:141152 |
Reticular Dysgenesis |
|
Failure to thrive, Skin rash, Leukopenia, Sepsis, Chronic otitis media, Abnormality of neutrophil... |
ORPHA:33355 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Abnormally low T cell receptor excision circle level, Recurrent upper respiratory tract infection... |
OMIM:618806 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Asthma, Elevated circulating C-reactive protein concentration, Leukocytosis, Nonproductive cough,... |
ORPHA:2902 |
Asbestos Intoxication |
|
Oxygen desaturation on exertion, Interlobular septal thickening, Lung adenocarcinoma, Reduced vit... |
ORPHA:2302 |
Netherton Syndrome |
|
Asthma, Skin rash, Eczema, Decreased circulating antibody level, Recurrent infections, Emphysema,... |
ORPHA:634 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased specific anti-polysaccharide antibody level, Splenomegaly, Autoimmune thrombocytopenia,... |
OMIM:300853 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent candida infections, Asthma, Recurrent bacterial skin infections, Onychomycosis, Atopic ... |
ORPHA:217390 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal platelet function, Abno... |
ORPHA:2585 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2 |
|
Aplastic anemia, Myeloid leukemia, Pancytopenia, Bone marrow hypocellularity, Leukemia, Pulmonary... |
OMIM:614743 |
Immunodeficiency 97 With Autoinflammation |
|
Increased circulating ferritin concentration, Hemophagocytosis, Eczema, Decreased proportion of C... |
OMIM:619802 |
Hypocomplementemic Urticarial Vasculitis |
|
Airway obstruction, Skin rash, Splenomegaly, Recurrent bacterial infections, Arthritis, Cough, Me... |
ORPHA:36412 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Bronchiolitis obliterans, Small for gestational age, Hypoplasia of the thymus, Eczema, Decreased ... |
OMIM:617241 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Recurrent otitis media, Neutropenia in presence of anti-neutropil antibodies, Recurrent oral herp... |
OMIM:619220 |
Acute Lung Injury |
|
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:178320 |
Isolated Agammaglobulinemia |
|
Failure to thrive, Sinusitis, Skin rash, Otitis media, Sepsis, Abnormal lymphocyte morphology, Ar... |
ORPHA:229717 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Asthma, Eosinophilia, Atopic dermatitis, Pneumonia |
OMIM:617638 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukoc... |
ORPHA:1302 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Bronchiolitis, Exertional dyspnea, Elevated circulating creatine kinase concentration, Pulmonary ... |
ORPHA:254361 |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Elevated circulating creatine kinase concentration, Pulmonary fibrosis, Erysipelas |
OMIM:615704 |
Riddle Syndrome |
|
Decreased circulating IgA level, Decreased circulating IgG level, Otitis media, Elevated alpha-fe... |
ORPHA:420741 |
Immunodeficiency 86 |
|
Increased circulating IgM level, BCGitis, Decreased circulating IgG level, Impaired oxidative burst |
OMIM:619549 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Sepsis, Recurrent opportunistic infections, Pneumonia, Recurrent Haemophilus influenzae infection... |
ORPHA:276 |
Immunodeficiency 14A, Autosomal Dominant |
|
Recurrent sinopulmonary infections, Splenomegaly, Decreased specific pneumococcal antibody level,... |
OMIM:615513 |
Hypersensitivity Pneumonitis, Familial |
|
Hypersensitivity pneumonitis |
OMIM:145300 |
Nocardiosis |
|
Keratitis, Respiratory distress, Unusual CNS infection, Lymphadenitis, Sepsis, Pneumonia, Pericar... |
ORPHA:31204 |
Autosomal Recessive Spastic Paraplegia Type 70 |
|
Abnormal pulmonary interstitial morphology |
ORPHA:401835 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Reduced forced expiratory volume in one second, Bronchiectasis, Reduced FEV1/FVC ratio, Airway ob... |
ORPHA:1303 |
Immunodeficiency 102 |
|
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Sepsis, B lym... |
OMIM:301082 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Elevated circulating C-reactive protein concentration, Lymphocytosis, Hemophagocytos... |
OMIM:308240 |
Sarcoidosis, Susceptibility To, 1 |
|
Increased circulating antibody level, Iridocyclitis, Elevated bronchoalveolar lavage fluid lympho... |
OMIM:181000 |
Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Neutrophilia, Leukocyt... |
OMIM:619281 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Failure to thrive, Desquamative interstitial pneumonitis, Recurrent upper r... |
OMIM:263000 |
Whim Syndrome 1 |
|
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Recurrent bacteria... |
OMIM:193670 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating IgA level, Recurrent otitis media, Decreased circulating IgG level, Decreas... |
OMIM:613502 |
Immunodeficiency 32B |
|
Sinusitis, Splenomegaly, Recurrent infections, Pneumonia, Bronchiectasis, Recurrent respiratory i... |
OMIM:226990 |
Neutrophil Immunodeficiency Syndrome |
|
Abnormality of neutrophil physiology, Leukocytosis |
ORPHA:183707 |
Benign Cephalic Histiocytosis |
|
Histiocytosis, Inflammatory abnormality of the skin, Skin rash |
ORPHA:157997 |
Immunodeficiency 46 |
|
Failure to thrive, Chronic oral candidiasis, Sepsis, Meningitis, Decreased circulating antibody l... |
OMIM:616740 |
Antisynthetase Syndrome |
|
Skin rash, Respiratory insufficiency, Elevated circulating creatine kinase concentration, Myositi... |
ORPHA:81 |
Immunodeficiency 57 With Autoinflammation |
|
Failure to thrive, Gastritis, Skin rash, Chronic lung disease, B lymphocytopenia, T lymphocytopen... |
OMIM:618108 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukoc... |
ORPHA:36238 |
Hermansky-Pudlak Syndrome 2 |
|
Enlarged platelet dense granules, Periodontitis, Chronic oral candidiasis, Recurrent otitis media... |
OMIM:608233 |
Interstitial Lung Disease 1 |
|
Interlobular septal thickening, Crackles, Decreased DLCO, Cough, Elevated bronchoalveolar lavage ... |
OMIM:619611 |
X-Linked Agammaglobulinemia |
|
Failure to thrive, Sinusitis, Osteomyelitis, Skin rash, Sepsis, Chronic otitis media, Arthritis, ... |
ORPHA:47 |
Interstitial Lung And Liver Disease |
|
Failure to thrive, Respiratory insufficiency, Intraalveolar phospholipid accumulation, Abnormal p... |
OMIM:615486 |
Immunodeficiency 72 With Autoinflammation |
|
Herpes simplex encephalitis, Hepatosplenomegaly, Increased circulating IgG level, Increased B cel... |
OMIM:618982 |
Pleural Mesothelioma |
|
Respiratory distress, Abnormal pleura morphology, Cough, Abnormal lung morphology, Pleural effusi... |
ORPHA:50251 |
Neonatal Alloimmune Neutropenia |
|
Neutropenia in presence of anti-neutropil antibodies, Severe infection, Sepsis, Meningitis, Pneum... |
ORPHA:464370 |
Neutropenia-Monocytopenia-Deafness Syndrome |
|
Abnormality of neutrophils, Abnormal macrophage morphology |
ORPHA:2690 |
Polymyositis |
|
Respiratory insufficiency, Elevated circulating creatine kinase concentration, Abnormal pulmonary... |
ORPHA:732 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci |
OMIM:233670 |
Hermansky-Pudlak Syndrome 4 |
|
Pulmonary fibrosis, Epistaxis, Restrictive ventilatory defect, Abnormal platelet granules |
OMIM:614073 |
Braddock Syndrome |
|
Neonatal respiratory distress, Failure to thrive, Pulmonary arterial hypertension, Pulmonary fibr... |
ORPHA:52047 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Oxygen desaturation on exertion, Asthma, Hypoxemia, Cystic pattern on pulmo... |
OMIM:610978 |
Lymphoproliferative Syndrome 2 |
|
EBV meningitis, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Sepsis, Aplastic anemia, Seve... |
OMIM:615122 |
Agammaglobulinemia, X-Linked |
|
Enteroviral hepatitis, Sepsis, B lymphocytopenia, Epididymitis, Decreased circulating IgE, Septic... |
OMIM:300755 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 5 |
|
Bone marrow hypocellularity, Pulmonary fibrosis |
OMIM:618674 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Osteomyelitis, Sp... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Osteomyelitis, Sp... |
OMIM:233710 |
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome |
|
Aspiration pneumonia, Failure to thrive |
OMIM:609528 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent protozoan infections, Recurrent infection of the gastrointestinal tract, Chronic hepati... |
ORPHA:572 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Decreased mean corpuscular volume, Failure to thrive, Decreased circulating IgG level, Leukocytos... |
OMIM:618278 |
Omenn Syndrome |
|
Failure to thrive, Recurrent fungal infections, Hypoproteinemia, Splenomegaly, Eosinophilia, Hypo... |
OMIM:603554 |
Cystic Fibrosis |
|
Decreased circulating antibody level, Pulmonary fibrosis, Recurrent respiratory infections |
ORPHA:586 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Brain abscess, Intraalveolar phospholipid accumulation, Decreased DLCO, Cough, Restrictive ventil... |
OMIM:610910 |
Mixed Connective Tissue Disease |
|
Gastritis, Skin rash, Splenomegaly, Leukopenia, Myositis, Myocarditis, Abnormal pulmonary interst... |
ORPHA:809 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:619707 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Sepsis, B lymphocytopenia, Decreased specific antibody response to vaccination, Uveitis, Pneumoni... |
OMIM:614700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Osteomyelitis, Sp... |
OMIM:233690 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hepatosplenomegaly, Abnormal pulmonary interstitial morphology, Cough, Hypertriglyceridemia, Micr... |
OMIM:619013 |
Congenital Tracheomalacia |
|
Apnea, Decreased peak expiratory flow, Pulmonary hypoplasia, Pneumonia, Tracheomalacia, Wheezing,... |
ORPHA:95430 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Leukocytosis, Splenomegaly, Respiratory insufficiency, Intraalveolar phospholipid accumulation, D... |
OMIM:618042 |
Limited Cutaneous Systemic Sclerosis |
|
Pulmonary arterial hypertension, Pulmonary fibrosis |
ORPHA:220402 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Neutropenia in presence of anti-neutropil antibodies, Desquamative interstitial pneumonitis, Hepa... |
OMIM:615952 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Recurrent bronchopulmonary infections, Neutropenia |
OMIM:610798 |
Papular Xanthoma |
|
Histiocytosis |
ORPHA:158008 |
Histiocytosis, Progressive Mucinous |
|
Mucinous histiocytosis |
OMIM:142630 |
Granulomatous Disease, Chronic, X-Linked |
|
Impaired oxidative burst, Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid der... |
OMIM:306400 |
Meier-Gorlin Syndrome 4 |
|
Emphysema |
OMIM:613804 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Failure to thrive, Recurrent otitis media, Lymphopenia, Recurrent upper respiratory tract infecti... |
OMIM:600802 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Recurrent candida infections, Recurrent mycobacterial infections, Histoplasmosis, Severe toxoplas... |
ORPHA:319552 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent infection of the gastrointestinal tract, Lymphadenitis, Recurrent opportunistic infecti... |
ORPHA:911 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated circulating C-reactive protein concentration, Neutrophilia, Brain abscess, Weight loss, ... |
ORPHA:54251 |
Immunodeficiency 64 |
|
Failure to thrive, Decreased circulating IgG level, Increased circulating IgA level, Defective T ... |
OMIM:618534 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Recurrent respiratory infections, Emphysema |
OMIM:219100 |
Pulmonary Alveolar Microlithiasis |
|
Oxygen desaturation on exertion, Interlobular septal thickening, Increased pulmonary vascular res... |
ORPHA:60025 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... |
ORPHA:70592 |
Retinal Dystrophy With Or Without Extraocular Anomalies |
|
Pulmonary fibrosis |
OMIM:617175 |
Autosomal Agammaglobulinemia |
|
Failure to thrive, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Sepsis, Chroni... |
ORPHA:33110 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Failure to thrive, Leukopenia, Aplastic anemia, Pancytopenia, Neutropenia, Bone marrow hypocellul... |
OMIM:613989 |
Granulomatosis With Polyangiitis |
|
Pancreatitis, Elevated circulating C-reactive protein concentration, Otitis media, Increased infl... |
ORPHA:900 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Eczema, B lymphocytopenia, Erythroderma, Recurrent viral infections, Decreased proportion of CD4+... |
OMIM:606367 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Crazy paving pattern, Crackles, Elevated carcinoembryonic antigen level, Ac... |
ORPHA:264675 |
Hereditary Progressive Mucinous Histiocytosis |
|
Mucinous histiocytosis |
ORPHA:158025 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Asthma, Recurrent fungal infections, Eosinophilic infiltration of the esophagus, Eosinophilia, De... |
OMIM:243700 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Periodontitis, Lymphopenia, Rhinitis, Recurrent sinopulmonary infections, Recurrent skin infectio... |
ORPHA:486 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Chronic pulmonary obstruction, Recurrent sinopulmonary infections, Recurrent skin infections, Atr... |
OMIM:616576 |
Purine Nucleoside Phosphorylase Deficiency |
|
Failure to thrive, Sinusitis, Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, ... |
OMIM:613179 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Rheumatoid arthritis, Sepsis, Epididymitis, Chronic sinusitis, Pneumonia, Decr... |
ORPHA:183675 |
Tularemia |
|
Respiratory distress, Increased circulating antibody level, Conjunctivitis, Leukocytosis, Otitis ... |
ORPHA:3392 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Failure to thrive, Lymphocytic interstitial pneumonia, Splenomegaly, Recurrent urinary tract infe... |
OMIM:618495 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Asthma, Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Recurrent ... |
OMIM:619752 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Recurrent bronchopulmonary infections, Neutropenia |
ORPHA:90023 |
Immunodeficiency 92 |
|
Decreased circulating IgA level, Osteomyelitis, Decreased circulating IgG level, Lymphocytosis, L... |
OMIM:619652 |
Acute Myelomonocytic Leukemia |
|
Leukocytosis, Eosinophilia, Weight loss, Dyspnea, Anemia, Thrombocytopenia |
ORPHA:517 |
Thymic Aplasia |
|
Recurrent streptococcus pneumoniae infections, Recurrent infection of the gastrointestinal tract,... |
ORPHA:83471 |
Ciliary Dyskinesia, Primary, 9 |
|
Bronchiectasis, Chronic otitis media, Cough, Chronic rhinitis, Recurrent sinusitis, Chronic sinus... |
OMIM:612444 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating total IgM, Recurrent bacterial infections,... |
OMIM:613500 |
Niemann-Pick Disease, Type C2 |
|
Sea-blue histiocytosis, Splenomegaly, Respiratory insufficiency, Neonatal respiratory distress, B... |
OMIM:607625 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Pneumonia |
OMIM:254120 |
Autoimmune Lymphoproliferative Syndrome |
|
Abnormal proportion of CD8-positive T cells, Gastritis, Uveitis, Bone marrow hypocellularity, Ret... |
ORPHA:3261 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Aspiration pneumonia |
OMIM:619477 |
Surfactant Metabolism Dysfunction, Pulmonary, 5 |
|
Interlobular septal thickening, Respiratory insufficiency, Intraalveolar phospholipid accumulatio... |
OMIM:614370 |
Immunodeficiency 75 |
|
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Bronchiectasis, Recurr... |
OMIM:619126 |
Cd8 Deficiency, Familial |
|
Recurrent bacterial infections, Bronchiectasis, Recurrent viral infections, Absence of CD8-positi... |
OMIM:608957 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Chronic pulmonary obstruction, Mycobacterium abscessus abscessus infection,... |
ORPHA:411703 |
Microlissencephaly |
|
Pneumonia |
ORPHA:1083 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Increased circulating ferritin concentration, Neutropenia, Elevated circulating C-reactive protei... |
ORPHA:158057 |
Surfactant Metabolism Dysfunction, Pulmonary, 4 |
|
Reduced forced expiratory volume in one second, Intraalveolar phospholipid accumulation, Reduced ... |
OMIM:300770 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Chronic otitis media, Abnormal neutrophi... |
ORPHA:3226 |
Chédiak-Higashi Syndrome |
|
Increased circulating ferritin concentration, Hemophagocytosis, Increased proportion of CD25+ mas... |
ORPHA:167 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Absent specific antibody response, Severe B lymphocytopenia, B lymphocytopenia, Reduced red cell ... |
OMIM:102700 |
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Recurrent skin infections, Eosinophilia, Eczema, Atopic dermatitis, Chronic mucocutaneous candidi... |
OMIM:618282 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Osteomyelitis, Recurrent infection of the gastrointestinal tract, Recurrent upper respiratory tra... |
OMIM:608184 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Interlobular septal thickening, Failure to thrive, Apnea, Desquamative interstitial pneumonitis, ... |
OMIM:265120 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Failure to thrive, Recurrent otitis media, Recurrent bacterial infections, B lymphocytopenia, Pan... |
OMIM:601495 |
Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Partial absence o... |
OMIM:240500 |
Trimethylaminuria |
|
Anemia, Neutropenia, Recurrent pneumonia, Splenomegaly |
OMIM:602079 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Failure to thrive, Lymphopenia, Aplasia of the thymus, Splenomegaly, Abnormally low T cell recept... |
OMIM:602450 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Lymphopenia, Interstitial pneumonitis, Aplastic anemia, Bone marrow hypocellularity, Anemia, Thro... |
OMIM:127550 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Overweight, Pulmonary fibrosis |
ORPHA:457240 |
Slc35A1-Cdg |
|
Respiratory distress, Pulmonary hemorrhage, Giant platelets, Neutropenia, Hypoxemia, Pneumonia, T... |
ORPHA:238459 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Increased circulating antibody level, Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thromb... |
OMIM:614470 |
Bare Lymphocyte Syndrome, Type Ii |
|
Recurrent protozoan infections, Failure to thrive, Colitis, Viral hepatitis, Recurrent fungal inf... |
OMIM:209920 |
Ciliary Dyskinesia, Primary, 44 |
|
Reduced forced expiratory volume in one second, Otitis media, Reduced forced vital capacity, Recu... |
OMIM:618781 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Failure to thrive, Decreased circulating IgA level, Sinusitis, Chronic bronchitis, T lymphocytope... |
OMIM:242860 |
Leukocyte Adhesion Deficiency |
|
Otitis media, Sepsis, Severe periodontitis, Impaired platelet aggregation, Pneumonia, Bone marrow... |
ORPHA:2968 |
Cutis Laxa, Autosomal Dominant 1 |
|
Bronchiectasis, Dyspnea, Peripheral pulmonary artery stenosis, Emphysema |
OMIM:123700 |
Multicentric Reticulohistiocytosis |
|
Histiocytosis, Cachexia, Arthritis |
ORPHA:139436 |
Leishmaniasis |
|
Increased circulating antibody level, Rhinitis, Splenomegaly, Leukopenia, Abnormal macrophage mor... |
ORPHA:507 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Granulocytopenia, Hemophagocytosis, Hepatosplenomegaly, Reduced natural killer cell activity, Hyp... |
OMIM:608898 |
Selective Igm Deficiency |
|
Keratitis, Onychomycosis, Recurrent infection of the gastrointestinal tract, Otitis media, Rheuma... |
ORPHA:331235 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Aspiration pneumonia, Elevated circulating creatine kinase concentration, Cough, Respiratory fail... |
ORPHA:90117 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Erythroderma, Recurrent viral infections, Increased circulating antibody level, Increased circula... |
ORPHA:169154 |
Griscelli Syndrome, Type 2 |
|
Recurrent bacterial infections, Hepatosplenomegaly, Reduced delayed hypersensitivity, Hemophagocy... |
OMIM:607624 |
Ciliary Dyskinesia, Primary, 23 |
|
Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis,... |
OMIM:615451 |
Reactive Arthritis |
|
Osteomyelitis, Conjunctivitis, Pustule, Respiratory insufficiency, Recurrent urinary tract infect... |
ORPHA:29207 |
Hereditary Mucoepithelial Dysplasia |
|
Pulmonary fibrosis, Recurrent respiratory infections |
ORPHA:1839 |
Q Fever |
|
Respiratory distress, Maculopapular exanthema, Myocarditis, Pneumonia, Pericarditis, Weight loss,... |
ORPHA:781 |
Mounier-Kühn Syndrome |
|
Bronchitis, Recurrent bronchopulmonary infections, Pneumonia, Recurrent respiratory infections |
ORPHA:3347 |
Scleroderma |
|
Keratitis, Osteomyelitis, Elevated circulating creatine kinase concentration, Myelitis, Myocardit... |
ORPHA:801 |
Erdheim-Chester Disease |
|
Osteomyelitis, Skin rash, Abnormal pulmonary interstitial morphology, Cough, Weight loss, Pleural... |
ORPHA:35687 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Interstitial pneumonitis, Intraalveolar phospholipid accumulation, Chronic lung disease, Abnormal... |
ORPHA:217563 |
Avian Influenza |
|
Respiratory distress, Elevated circulating C-reactive protein concentration, Sepsis, Pneumonia, H... |
ORPHA:454836 |
Fusariosis |
|
Keratitis, Onychomycosis, Unusual CNS infection, Maculopapular exanthema, Pneumonia, Osteomyeliti... |
ORPHA:228119 |
Rigid Spine Syndrome |
|
Respiratory insufficiency, Abnormality on pulmonary function testing, Pneumonia |
ORPHA:97244 |
Follicular Lymphoma |
|
Meningitis, Weight loss, Pleural effusion, Splenomegaly |
ORPHA:545 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Aspiration pneumonia, Respiratory failure, Neonatal respiratory distress, Small for gestational age |
OMIM:619057 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:612692 |
Young Syndrome |
|
Bronchiectasis, Recurrent bronchitis, Congenital pulmonary airway malformation, Recurrent sinopul... |
OMIM:279000 |
Immunodeficiency 56 |
|
Failure to thrive, Recurrent infection of the gastrointestinal tract, Chronic hepatitis due to cr... |
OMIM:615207 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Skin rash, Hypertri... |
OMIM:603552 |
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Recurrent lower respiratory tract infections, Decreased circulating total IgM, Recurrent upper re... |
OMIM:615139 |
Ciliary Dyskinesia, Primary, 39 |
|
Chronic lung disease, Cough, Recurrent lower respiratory tract infections, Rhinorrhea, Recurrent ... |
OMIM:618254 |
Typhoid |
|
Skin rash, Splenomegaly, Abnormal pulmonary interstitial morphology, Cough, Infectious encephalit... |
ORPHA:99745 |
Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Pancreatitis, Neutrophilia, Eczema, Erythroderma, Colitis, Inflammatory abn... |
ORPHA:3260 |
Ciliary Dyskinesia, Primary, 42 |
|
Chronic pulmonary obstruction, Respiratory insufficiency, Reduced forced vital capacity, Chronic ... |
OMIM:618695 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Pulmonary artery stenosis, Pulmonary hypoplasia, Emphysema, Tracheomalacia |
OMIM:613177 |
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
|
Keratitis, Eosinophilia, Eczema, Recurrent otitis media, Bronchiectasis, Increased circulating Ig... |
OMIM:618523 |
X-Linked Lymphoproliferative Disease |
|
Increased circulating ferritin concentration, Hemophagocytosis, Aplastic anemia, B lymphocytopeni... |
ORPHA:2442 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Leukopenia, Aplastic anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Pulmona... |
OMIM:613990 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypertriglyceridemia, Abnormality of the pulmonary artery, Hypercholesterolemia, Emphysema |
ORPHA:363618 |
Ciliary Dyskinesia, Primary, 27 |
|
Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis,... |
OMIM:615504 |
Loeys-Dietz Syndrome 4 |
|
Pneumothorax, Emphysema |
OMIM:614816 |
Whim Syndrome |
|
Sinusitis, Lymphopenia, Otitis media, Lymphadenitis, Recurrent upper respiratory tract infections... |
ORPHA:51636 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Prostatitis, Enteroviral dermatomyositis syndrome, Pyoderma, Enteroviral hepatitis, Re... |
OMIM:307200 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Chronic oral candidiasis, Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia... |
OMIM:150550 |
Congenital Enterovirus Infection |
|
Respiratory distress, Leukocytosis, Skin rash, Leukopenia, Sepsis, Myocarditis, Abnormal macropha... |
ORPHA:292 |
Granulomatosis With Polyangiitis |
|
Keratitis, Sinusitis, Conjunctivitis, Respiratory insufficiency, Chronic otitis media, Hemosideri... |
OMIM:608710 |
Juvenile Dermatomyositis |
|
Elevated circulating C-reactive protein concentration, Skin rash, Elevated circulating creatine k... |
ORPHA:93672 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Failure to thrive, Asthma, Recurrent respiratory infections, Abnormal pulmo... |
ORPHA:209905 |
Ciliary Dyskinesia, Primary, 46 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent sinusiti... |
OMIM:619436 |
Immunodeficiency 36 |
|
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Splenomegaly, Recu... |
OMIM:616005 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Increased circulating antibody level, Failure to thrive, Splenomegaly, Extramedullary hematopoies... |
OMIM:615285 |
Carcinoma Of Esophagus |
|
Obesity, Weight loss, Cough |
ORPHA:70482 |
Pgm3-Cdg |
|
Abnormal proportion of CD8-positive T cells, Eczema, Sepsis, Chronic sinusitis, Bone marrow hypoc... |
ORPHA:443811 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Crazy paving pattern, Crackles, Intraalveolar phospholipid accumulation, Cough, Decreased DLCO, W... |
ORPHA:747 |
Immunodeficiency 58 |
|
Onychomycosis, Eczema, Helicobacter pylori infection, Decreased specific antibody response to vac... |
OMIM:618131 |
Adult-Onset Still Disease |
|
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Splenomegaly, ... |
ORPHA:829 |
Cholesterol Pneumonia |
|
Pneumonia, Cough, Tachypnea |
OMIM:215030 |
Bronchial Neuroendocrine Tumor |
|
Asthma, Increased circulating cortisol level, Nonproductive cough, Bronchospasm, Abnormal pulmona... |
ORPHA:97287 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Slender build, Failure to thrive, Small for gestational age, Respiratory insufficiency, Recurrent... |
OMIM:613658 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Impaired memory B cell generation, Sepsis, Decreased circulating IgE, Decreased circulating IgA l... |
OMIM:308230 |
Chitayat Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Abnormal pulmonary interstitial morpholog... |
OMIM:617180 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Pneumonia |
ORPHA:85179 |
Hermansky-Pudlak Syndrome |
|
Neutropenia, Dyspnea, Weight loss, Epistaxis, Pulmonary fibrosis |
ORPHA:79430 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Recurrent gastroenteritis, Gastritis, Eczema, Sepsis, Decreased prealbumin ... |
ORPHA:37042 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Sepsis, Abscess, Myocarditis, Severe viral infection, Pneumonia, Septic art... |
ORPHA:36234 |
Ciliary Dyskinesia, Primary, 21 |
|
Bronchiectasis, Ciliary dyskinesia, Chronic sinusitis, Recurrent pneumonia, Recurrent otitis medi... |
OMIM:615294 |
Omenn Syndrome |
|
Failure to thrive, Leukocytosis, Splenomegaly, Eosinophilia, Sepsis, Abnormal lymphocyte morpholo... |
ORPHA:39041 |
Meier-Gorlin Syndrome 6 |
|
Failure to thrive, Small for gestational age, Tracheobronchomalacia, Emphysema, Recurrent respira... |
OMIM:616835 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Decreased circulating IgA level, Enterocolitis, Interstitial pneumonitis, Decreased circulating t... |
OMIM:614878 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Crohn's disease, Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, S... |
OMIM:616100 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Lymphopenia, Inflammation of the large intestine, Pulmonary hypoplasia, Bronchiectasis, Interstit... |
OMIM:619708 |
Hermansky-Pudlak Syndrome 10 |
|
Apnea, Splenomegaly, Abnormal pulmonary interstitial morphology, Neutropenia, Recurrent respirato... |
OMIM:617050 |
Lymphangioleiomyomatosis |
|
Chylothorax, Cough, Restrictive ventilatory defect, Emphysema, Pneumothorax, Dyspnea, Pulmonary l... |
ORPHA:538 |
Overlap Myositis |
|
Rheumatoid arthritis, Leukopenia, Elevated circulating creatine kinase concentration, Severe infe... |
ORPHA:206572 |
Ciliary Dyskinesia, Primary, 28 |
|
Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis,... |
OMIM:615505 |
Necrobiosis Lipoidica |
|
Abnormality of neutrophil physiology, Granuloma, Inflammatory abnormality of the skin |
ORPHA:542592 |
Amoebiasis Due To Entamoeba Histolytica |
|
Acute colitis, Leukocytosis, Pleural empyema, Constrictive pericarditis, Cough, Weight loss, Hypo... |
ORPHA:67 |
Ciliary Dyskinesia, Primary, 11 |
|
Chronic bronchitis, Chronic rhinitis, Recurrent sinusitis, Ciliary dyskinesia, Bronchiectasis, Ne... |
OMIM:612649 |
Primary Ciliary Dyskinesia |
|
Recurrent mycobacterial infections, Airway obstruction, Anomalous pulmonary venous return, Recurr... |
ORPHA:244 |
Ciliary Dyskinesia, Primary, 3 |
|
Recurrent otitis media, Recurrent sinusitis, Ciliary dyskinesia, Bronchiectasis, Neonatal respira... |
OMIM:608644 |
Sarcoidosis |
|
Maculopapular exanthema, Abnormal pleura morphology, Uveitis, Abnormal lung morphology, Weight lo... |
ORPHA:797 |
Adult Acute Respiratory Distress Syndrome |
|
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:70578 |
Bronchiectasis With Or Without Elevated Sweat Chloride 3 |
|
Bronchiectasis, Chronic bronchitis |
OMIM:613071 |
Bronchiectasis With Or Without Elevated Sweat Chloride 2 |
|
Bronchiectasis, Chronic bronchitis |
OMIM:613021 |
Bronchiectasis With Or Without Elevated Sweat Chloride 1 |
|
Bronchiectasis, Chronic bronchitis |
OMIM:211400 |
Chediak-Higashi Syndrome |
|
Periodontitis, Recurrent bacterial skin infections, Hemophagocytosis, Splenomegaly, Abnormal dens... |
OMIM:214500 |
Tracheobronchopathia Osteochondroplastica |
|
Respiratory insufficiency, Wheezing, Bronchitis, Upper airway obstruction, Esophagitis, Pneumonia... |
ORPHA:3348 |
Cystic Echinococcosis |
|
Increased circulating antibody level, Asthma, Unusual infection, Multiple pulmonary cysts, Abnorm... |
ORPHA:400 |
Dermatomyositis |
|
Lung adenocarcinoma, Abnormal eosinophil morphology, Respiratory insufficiency, Abnormal pulmonar... |
ORPHA:221 |
Ciliary Dyskinesia, Primary, 33 |
|
Cough, Chronic rhinitis, Recurrent lower respiratory tract infections, Recurrent bronchitis, Cili... |
OMIM:616726 |
Ciliary Dyskinesia, Primary, 41 |
|
Recurrent sinusitis, Bronchiectasis, Impaired nasal mucociliary clearance, Recurrent otitis media |
OMIM:618449 |
Systemic Capillary Leak Syndrome |
|
Pancreatitis, Pulmonary edema, Leukocytosis, Myocarditis, Pericarditis, Cough, Rhinorrhea, Pleura... |
ORPHA:188 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Peripheral pulmonary artery stenosis, Respiratory insufficiency, Recurrent pneumonia, Emphysema, ... |
ORPHA:90349 |
Mantle Cell Lymphoma |
|
Weight loss, Splenomegaly |
ORPHA:52416 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Lymphocytosis, Pustule, Skin rash, Eosinophilia, Interstitial pneumonitis, Myocarditis, Cough, He... |
ORPHA:139402 |
Ciliary Dyskinesia, Primary, 14 |
|
Bronchiectasis, Chronic bronchitis, Otitis media, Wheezing, Cough, Chronic sinusitis, Ciliary dys... |
OMIM:613807 |
Complement Factor B Deficiency |
|
Recurrent bacterial infections, Peritonitis, Recurrent meningococcal disease, Meningitis, Pneumonia |
OMIM:615561 |
Mucus Inspissation Of Respiratory Tract |
|
Bronchiectasis, Chronic sinusitis, Chronic pulmonary obstruction, Recurrent respiratory infections |
OMIM:253240 |
Thymoma |
|
Rheumatoid arthritis, Aplastic anemia, Neoplasm of the lung, Myositis, Cough, Glomerulonephritis,... |
ORPHA:99867 |
Immunodeficiency 23 |
|
Eczema, Abscess, Increased circulating IgG level, Severe varicella zoster infection, Increased ci... |
OMIM:615816 |
Al Amyloidosis |
|
Increased circulating antibody level, Nonproductive cough, Increased circulating NT-proBNP concen... |
ORPHA:85443 |
Immunodeficiency 62 |
|
Bronchiectasis, Autoimmune thrombocytopenia |
OMIM:618459 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Crohn's disease, Decreased circulating IgG level, Decreased circulating total IgM, B lymphocytope... |
OMIM:619705 |
Eosinophilic Gastroenteritis |
|
Asthma, Elevated circulating C-reactive protein concentration, Leukocytosis, Steatorrhea, Eosinop... |
ORPHA:2070 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Cough, Recurrent sinusitis, Neonatal respiratory distress, Bronchiectasis, Recurrent respiratory ... |
OMIM:300991 |
Ciliary Dyskinesia, Primary, 7 |
|
Reduced FEV1/FVC ratio, Cough, Chronic rhinitis, Ciliary dyskinesia, Recurrent pneumonia, Restric... |
OMIM:611884 |
Primary Intestinal Lymphangiectasia |
|
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Hypoproteinemia, O... |
ORPHA:90362 |
Diffuse Cutaneous Systemic Sclerosis |
|
Dyspnea, Pulmonary arterial hypertension, Pulmonary fibrosis, Arthritis |
ORPHA:220393 |
Brucellosis |
|
Elevated circulating C-reactive protein concentration, Myocarditis, Epididymitis, Pulmonary granu... |
ORPHA:1304 |
Ciliary Dyskinesia, Primary, 26 |
|
Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis,... |
OMIM:615500 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, Interstitial pneumonitis, Sep... |
ORPHA:231154 |
Ellis Van Creveld Syndrome |
|
Failure to thrive, Aplasia/Hypoplasia of the lungs, Acute leukemia, Emphysema |
ORPHA:289 |
Tracheobronchomegaly |
|
Bronchiectasis, Recurrent bronchopulmonary infections |
OMIM:275300 |
Polyarteritis Nodosa |
|
Elevated circulating C-reactive protein concentration, Pericarditis, Pleuritis, Abnormal lung mor... |
ORPHA:767 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Chronic otitis media, Abnormal mucociliary clearance, Bronchiectasis, Recur... |
OMIM:619466 |
Laryngeal Neuroendocrine Tumor |
|
Exertional dyspnea, Weight loss, Elevated carcinoembryonic antigen level |
ORPHA:100083 |
Ciliary Dyskinesia, Primary, 32 |
|
Ciliary dyskinesia, Bronchiectasis, Neonatal respiratory distress, Immotile cilia, Recurrent resp... |
OMIM:616481 |
Kaposi Sarcoma |
|
Skin rash, Abnormality of the spleen, Recurrent herpes, Abnormal lung morphology, Weight loss |
ORPHA:33276 |
Autoinflammatory-Pancytopenia Syndrome |
|
Failure to thrive, Hemophagocytosis, Intestinal inflammation, Hepatosplenomegaly, Membranoprolife... |
OMIM:619858 |
Pfapa Syndrome |
|
Splenomegaly, Arthritis, Recurrent pharyngitis, Infectious encephalitis, Weight loss |
ORPHA:42642 |
Specific Granule Deficiency 2 |
|
Failure to thrive, Recurrent otitis media, Sepsis, Recurrent bacterial infections, Recurrent pneu... |
OMIM:617475 |
Acute Promyelocytic Leukemia |
|
Leukocytosis, Chronic infection, Diffuse alveolar hemorrhage, Leukopenia, Pancytopenia, Stomatiti... |
ORPHA:520 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Bone marrow hypocellularity, Thrombocytopenia, Aplastic anemia, Pulmonary fibrosis |
OMIM:224230 |
Hermansky-Pudlak Syndrome 1 |
|
Colitis, Inflammation of the large intestine, Restrictive ventilatory defect, Epistaxis, Pulmonar... |
OMIM:203300 |
Bloom Syndrome |
|
Recurrent gastroenteritis, Cheilitis, Abnormal proportion of CD8-positive T cells, Otitis media, ... |
ORPHA:125 |
Melioidosis |
|
Splenic abscess, Unusual skin infection, Prostatitis, Osteoarthritis, Sepsis, Brain abscess, Abno... |
ORPHA:31202 |
Gaucher Disease, Type I |
|
Splenomegaly, Abnormal pulmonary interstitial morphology, Pulmonary arterial hypertension, Pancyt... |
OMIM:230800 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection... |
ORPHA:2643 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Decreased specific anti-polysaccharide antibody level, Sinusitis, Lymphopenia, Increased circulat... |
OMIM:600903 |
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation |
|
Megaloblastic anemia, Recurrent bronchopulmonary infections, Gastritis, Recurrent pneumonia, Emph... |
OMIM:219721 |
Keutel Syndrome |
|
Peripheral pulmonary artery stenosis, Airway obstruction, Sinusitis, Pulmonary artery hypoplasia,... |
OMIM:245150 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Recurrent upper and lower respiratory tract infections, Osteomyelitis, Pustule, Recurrent tonsill... |
ORPHA:171876 |
Immunodeficiency 77 |
|
Chronic pulmonary obstruction, Recurrent tonsillitis, Bronchiectasis, Cutaneous abscess, Nontuber... |
OMIM:619223 |
Ciliary Dyskinesia, Primary, 29 |
|
Bronchiectasis, Decreased nasal nitric oxide, Ciliary dyskinesia, Recurrent respiratory infections |
OMIM:615872 |
Oculopharyngodistal Myopathy |
|
Respiratory insufficiency due to muscle weakness, Recurrent aspiration pneumonia, Weight loss, Re... |
ORPHA:98897 |
Gaucher Disease, Type Ii |
|
Failure to thrive, Apnea, Splenomegaly, Recurrent aspiration pneumonia, Anemia, Thrombocytopenia |
OMIM:230900 |
Bone Dysplasia, Lethal Holmgren Type |
|
Failure to thrive, Respiratory insufficiency, Weight loss, Anemia, Recurrent respiratory infections |
ORPHA:1842 |
Gaucher Disease Type 1 |
|
Increased circulating antibody level, Splenomegaly, Leukopenia, Osteoarthritis, Abnormal pulmonar... |
ORPHA:77259 |
Yao Syndrome |
|
Asthma, Inflammatory abnormality of the skin, Skin rash, Keratoconjunctivitis sicca, Arthritis, P... |
OMIM:617321 |
Neutrophilia, Hereditary |
|
Hepatosplenomegaly, Neutrophilia |
OMIM:162830 |
46,Xx Gonadal Dysgenesis |
|
Pulmonary fibrosis |
ORPHA:243 |
Cleft Velum |
|
Aspiration pneumonia, Recurrent otitis media |
ORPHA:99772 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoproteinemia, Pulmonary embolism, Iron deficiency anemia, Thrombocytosis, Decreased circulatin... |
OMIM:226300 |
Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Abnormality of tumor necrosis factor secretion, Inc... |
ORPHA:158061 |
Ciliary Dyskinesia, Primary, 20 |
|
Respiratory insufficiency due to defective ciliary clearance, Cough, Recurrent sinusitis, Ciliary... |
OMIM:615067 |
Hodgkin Lymphoma |
|
Dyspnea, Weight loss, Cough, Splenomegaly |
ORPHA:98293 |
Wild Type Attr Amyloidosis |
|
Pleural effusion, Weight loss, Pulmonary edema, Abnormal pulmonary interstitial morphology |
ORPHA:330001 |
Niemann-Pick Disease, Type A |
|
Failure to thrive, Sea-blue histiocytosis, Splenomegaly, Microcytic anemia, Bone-marrow foam cell... |
OMIM:257200 |
Hemophagocytic Syndrome Associated With An Infection |
|
Increased circulating ferritin concentration, Hemophagocytosis, Abnormal cytokine signaling, Seve... |
ORPHA:158048 |
Infant Acute Respiratory Distress Syndrome |
|
Pulmonary edema, Sepsis, Tachypnea, Respiratory tract infection, Pneumonia, Hypoxemia, Respirator... |
ORPHA:70587 |
Graft Versus Host Disease |
|
Recurrent gastroenteritis, Failure to thrive, Inflammatory abnormality of the skin, Hemophagocyto... |
ORPHA:39812 |
Mu-Heavy Chain Disease |
|
Increased circulating antibody level, Splenomegaly, Abnormal B cell count, Weight loss, Anemia |
ORPHA:100024 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Recurrent otitis media, Decreased circulating IgG level, Chronic oral candidiasis, Hemophagocytos... |
OMIM:301078 |
Cyclic Neutropenia |
|
Periodontitis, Sinusitis, Lymphopenia, Enterocolitis, Otitis media, Recurrent skin infections, Re... |
ORPHA:2686 |
Ciliary Dyskinesia, Primary, 5 |
|
Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis,... |
OMIM:608647 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Recurrent mycobacterial infections, Recurrent fungal infections, Splenomegaly, Sepsis, Recurrent ... |
ORPHA:169090 |
Immunodeficiency 81 |
|
Impaired collagen-induced platelet aggregation, Skin rash, Abnormally low T cell receptor excisio... |
OMIM:619374 |
Generalized Eruptive Histiocytosis |
|
Histiocytosis, Maculopapular exanthema, Leukemia, Hypereosinophilia |
ORPHA:157991 |
Ciliary Dyskinesia, Primary, 15 |
|
Bronchiectasis, Chronic bronchitis, Wheezing, Cough, Chronic sinusitis, Recurrent pneumonia, Cili... |
OMIM:613808 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating ferritin concentration, Abnormality of tumor necrosis factor secretion, Inc... |
ORPHA:540 |
Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Obesity, Recurrent upper respiratory tract infections, Pneumonia |
OMIM:300209 |
Systemic Sclerosis |
|
Osteomyelitis, Recurrent skin infections, Elevated circulating creatine kinase concentration, Abn... |
ORPHA:90291 |
Shwachman-Diamond Syndrome |
|
Steatorrhea, Eczema, Sepsis, Aplastic anemia, Macrocytic anemia, Pneumonia, Pancytopenia, Bone ma... |
ORPHA:811 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, Recurrent respiratory infections, Pneumonia, Respiratory failure requiring ... |
ORPHA:596 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen... |
OMIM:202700 |
Autoimmune Polyendocrinopathy Type 4 |
|
Iridocyclitis, Rheumatoid arthritis, Leukopenia, Autoimmune thrombocytopenia, Abnormal pulmonary ... |
ORPHA:227990 |
Immune-Mediated Necrotizing Myopathy |
|
Skin rash, Elevated circulating creatine kinase concentration, Myositis, Abnormal pulmonary inter... |
ORPHA:206569 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... |
OMIM:606843 |
Ciliary Dyskinesia, Primary, 12 |
|
Chronic pulmonary obstruction, Chronic otitis media, Chronic rhinitis, Chronic sinusitis, Ciliary... |
OMIM:612650 |
Neonatal Marfan Syndrome |
|
Neonatal respiratory distress, Hypoxemia, Emphysema |
ORPHA:284979 |
Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Neoplasm of the lung, Cough, Upper airway obstruction, Dyspnea, Weight loss... |
ORPHA:142 |
Good Syndrome |
|
Abnormal leukocyte morphology, Sinusitis, Recurrent skin infections, Recurrent urinary tract infe... |
ORPHA:169105 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Failure to thrive, Lymphocytic interstitial pneumonia |
OMIM:245590 |
Ciliary Dyskinesia, Primary, 30 |
|
Asthma, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Respira... |
OMIM:616037 |
Ciliary Dyskinesia, Primary, 25 |
|
Sinusitis, Chronic pulmonary obstruction, Recurrent sinusitis, Ciliary dyskinesia, Bronchiectasis... |
OMIM:615482 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... |
OMIM:608203 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Failure to thrive, Decreased circulating cortisol level, Severe B lymphocytopenia, Recurrent uppe... |
ORPHA:293978 |
Gaucher Disease |
|
Increased circulating antibody level, Osteomyelitis, Elevated circulating C-reactive protein conc... |
ORPHA:355 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Pulmonary artery aneurysm, Pulmonary artery dilatation, Emphysema |
OMIM:614437 |
Kikuchi-Fujimoto Disease |
|
Elevated circulating C-reactive protein concentration, Lymphocytosis, Pustule, Splenomegaly, Skin... |
ORPHA:50918 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Chronic lung disease, Acute infectious pneumonia, Respiratory failure requi... |
ORPHA:140896 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Acute otitis media, Lack of T cell function, Lymphopenia, Decreased circulating IgG level, Chroni... |
ORPHA:35078 |
Igg4-Related Aortitis |
|
Increased circulating antibody level, Asthma, Elevated circulating C-reactive protein concentrati... |
ORPHA:449400 |
Primary Sjögren Syndrome |
|
Airway obstruction, Chronic active hepatitis, Increased circulating antibody level, Abnormal pulm... |
ORPHA:289390 |
Fabry Disease |
|
Hyperlipidemia, Chronic pulmonary obstruction, Respiratory insufficiency, Arthritis, Emphysema, D... |
ORPHA:324 |
Autoimmune Polyendocrinopathy Type 3 |
|
Iridocyclitis, Rheumatoid arthritis, Leukopenia, Autoimmune thrombocytopenia, Abnormal pulmonary ... |
ORPHA:227982 |
Bronchogenic Cyst |
|
Abnormal pleura morphology, Cough, Pneumonia, Chronic infection, Dyspnea, Bronchogenic cyst, Pulm... |
ORPHA:2357 |
Retinal Dystrophy And Microvillus Inclusion Disease |
|
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... |
OMIM:619446 |
Immunodeficiency 43 |
|
Decreased circulating IgG level, Hypoproteinemia, Hypoalbuminemia, Bronchiectasis, Recurrent resp... |
OMIM:241600 |
Postinfectious Vasculitis |
|
Recurrent streptococcus pneumoniae infections, Elevated circulating C-reactive protein concentrat... |
ORPHA:48435 |
Insulin Autoimmune Syndrome |
|
Increased circulating antibody level, Weight loss, Arthralgia/arthritis |
ORPHA:411593 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Increased circulating interleukin 6 concentration, Chronic gastritis, Colitis, Elevated circulati... |
OMIM:301074 |
Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Failure to thrive, Emphysema, Small for gestational age |
OMIM:224690 |
Majeed Syndrome |
|
Failure to thrive, Osteomyelitis, Inflammatory abnormality of the skin, Pustule, Leukocytosis, Co... |
ORPHA:77297 |
Pulmonary Venoocclusive Disease 1, Autosomal Dominant |
|
Interlobular septal thickening, Pulmonary arterial hypertension, Pulmonary venous occlusion |
OMIM:265450 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Asthma, Sinusitis, Skin rash, Recurrent intrapulmonary hemorrhage, Eosinophilia, Respiratory insu... |
ORPHA:183 |
Ciliary Dyskinesia, Primary, 34 |
|
Bronchiectasis, Chronic rhinitis, Recurrent sinusitis, Recurrent bronchitis, Reduced respiratory ... |
OMIM:617091 |
Timothy Syndrome |
|
Bronchitis, Recurrent infections, Pneumonia |
OMIM:601005 |
Mast Cell Sarcoma |
|
Weight loss, Mastocytosis, Splenomegaly |
ORPHA:66661 |
Immunodeficiency 82 With Systemic Inflammation |
|
Elevated circulating C-reactive protein concentration, Gastritis, B lymphocytopenia, Pneumonia, W... |
OMIM:619381 |
Aggressive Systemic Mastocytosis |
|
Neutropenia, Abnormal mast cell morphology, Leukocytosis, Maculopapular exanthema, Hepatosplenome... |
ORPHA:98850 |
Ciliary Dyskinesia, Primary, 22 |
|
Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis,... |
OMIM:615444 |
Adult Idiopathic Neutropenia |
|
Recurrent fungal infections, Lymphopenia, Recurrent bacterial infections, Monocytosis, Helicobact... |
ORPHA:2688 |
Indolent Systemic Mastocytosis |
|
Abnormal mast cell morphology, Skin rash, Splenomegaly, Maculopapular exanthema, Mastocytosis, In... |
ORPHA:98848 |
Ciliary Dyskinesia, Primary, 45 |
|
Chronic rhinitis, Immotile cilia, Recurrent respiratory infections, Bronchiectasis |
OMIM:618801 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Bacterial endocarditis, Splenomegaly, Cachexia, Hepatosplenomegaly, Abnormality of the spleen, Ab... |
ORPHA:2072 |
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema |
|
Failure to thrive, Apnea, Chronic gastritis, Decreased circulating IgG level, Colitis, Eczema, In... |
OMIM:608809 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Pulmonary bulla, Nodular pattern on pulmonary HRCT, Hemothorax, Recurrent intrapulmonary hemorrha... |
OMIM:130050 |
Lysinuric Protein Intolerance |
|
Increased circulating ferritin concentration, Failure to thrive, Pancreatitis, Hemophagocytosis, ... |
OMIM:222700 |
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome |
|
Bronchiectasis, Neonatal asphyxia, Congenital laryngeal stridor |
ORPHA:2375 |
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Recurrent sinusitis, Bronchiectasis, Recurrent pneumonia, Recurrent otitis media |
OMIM:620032 |
Ciliary Dyskinesia, Primary, 19 |
|
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Recurrent sinus... |
OMIM:614935 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cachexia, Recurrent respiratory infections |
ORPHA:1389 |
Marfan Syndrome |
|
Slender build, Cachexia, Pulmonary artery dilatation, Emphysema, Arthralgia/arthritis, Spontaneou... |
ORPHA:558 |
Gaucher Disease Type 3 |
|
Increased circulating antibody level, Splenomegaly, Abnormal pulmonary interstitial morphology, P... |
ORPHA:77261 |
Sea-Blue Histiocyte Disease |
|
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly |
OMIM:269600 |
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Recurrent aspiration pneumonia |
OMIM:619971 |
Ciliary Dyskinesia, Primary, 13 |
|
Recurrent sinusitis, Recurrent bronchitis, Ciliary dyskinesia, Recurrent otitis media, Bronchiect... |
OMIM:613193 |
Classic Hodgkin Lymphoma |
|
Skin rash, Splenomegaly, Respiratory insufficiency, Cough, Bone marrow hypocellularity, Weight loss |
ORPHA:391 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Nonspherocytic hemolytic anemia, Splenomegaly, Spontaneous hemolytic crises, Impaired neutrophil ... |
OMIM:613470 |
Dyskeratosis Congenita, X-Linked |
|
Blepharitis, Conjunctivitis, Leukopenia, Restrictive ventilatory defect, Pancytopenia, Bone marro... |
OMIM:305000 |
Microsporidiosis |
|
Keratitis, Pancreatitis, Lymphadenitis, Sepsis, Myocarditis, Pneumonia, Weight loss, Rhinitis, Pr... |
ORPHA:2552 |
Stevens-Johnson Syndrome |
|
Pancreatitis, Sepsis, Abnormal pleura morphology, Cough, Abnormality of neutrophils, Weight loss,... |
ORPHA:36426 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased circulating ferritin concentration, Failure to thrive, Hemophagocytosis, Splenomegaly, ... |
OMIM:603553 |
Mucoepithelial Dysplasia, Hereditary |
|
Fibrocystic lung disease, Eosinophilia, Keratoconjunctivitis, Chronic mucocutaneous candidiasis, ... |
OMIM:158310 |
Desmoplastic Small Round Cell Tumor |
|
Cachexia, Anemia, Weight loss, Neoplasm of the lung |
ORPHA:83469 |
Alveolar Echinococcosis |
|
Cutaneous abscess, Increased circulating antibody level, Abnormal spleen morphology, Eosinophilia... |
ORPHA:284 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress, Failure to thrive, Weight loss, Cachexia |
OMIM:612075 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Aspiration pneumonia, Weight loss, Cough |
ORPHA:216866 |
Eosinophilic Fasciitis |
|
Abnormal eosinophil morphology, Eosinophilia, Myositis, Arthritis, Fasciitis, Weight loss |
ORPHA:3165 |
Ciliary Dyskinesia, Primary, 35 |
|
Cough, Chronic rhinitis, Chronic sinusitis, Bronchiectasis, Recurrent respiratory infections |
OMIM:617092 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Recurrent aspiration pneumonia, Respiratory failure, Respiratory insufficiency due to muscle weak... |
ORPHA:2590 |
Simple Cryoglobulinemia |
|
Viral hepatitis, Nephritis, Monoclonal elevation of circulating IgA, Membranoproliferative glomer... |
ORPHA:91139 |
Toxic Epidermal Necrolysis |
|
Respiratory distress, Pancreatitis, Anemia, Sepsis, Abnormal pleura morphology, Cough, Restrictiv... |
ORPHA:537 |
Ciliary Dyskinesia, Primary, 24 |
|
Sinusitis, Recurrent sinusitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis |
OMIM:615481 |
Rhabdoid Tumor |
|
Weight loss, Anemia, Thrombocytopenia, Respiratory insufficiency |
ORPHA:69077 |
Familial Mediterranean Fever |
|
Crohn's disease, Elevated circulating C-reactive protein concentration, Neutrophilia, Elevated ci... |
OMIM:249100 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Elevated circulating creatine kinase concentration, Restrictive ventilatory defect, Pneumonia |
OMIM:253700 |
Acute Monoblastic/Monocytic Leukemia |
|
Lymphocytosis, Leukocytosis, Hypochromic anemia, Acute monocytic leukemia, Weight loss, Exertiona... |
ORPHA:514 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Hypoxemia, Aspiration pneumonia, Wheezing, Pneumothorax, Neonatal asphyxia,... |
ORPHA:70588 |
Ciliary Dyskinesia, Primary, 1 |
|
Chronic otitis media, Chronic rhinitis, Recurrent bronchitis, Ciliary dyskinesia, Chronic sinusit... |
OMIM:244400 |
Listeriosis |
|
Respiratory distress, Unusual CNS infection, Sepsis, Abscess, Myocarditis, Pneumonia, Pericarditi... |
ORPHA:533 |
Autosomal Dominant Cutis Laxa |
|
Bronchiectasis, Peripheral pulmonary artery stenosis, Bronchiolitis, Emphysema |
ORPHA:90348 |
Alpha-Mannosidosis, Adult Form |
|
Recurrent gastroenteritis, Hepatosplenomegaly, Recurrent infections, Pneumonia, Pancytopenia |
ORPHA:309288 |
Takayasu Arteritis |
|
Arthritis, Weight loss, Increased inflammatory response, Abnormal pattern of respiration, Anemia,... |
ORPHA:3287 |
Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Pancreatitis, Lymphadenitis, Chronic sinus... |
ORPHA:449395 |
Ciliary Dyskinesia, Primary, 43 |
|
Recurrent upper respiratory tract infections, Chronic rhinitis, Recurrent lower respiratory tract... |
OMIM:618699 |
Familial Nasal Acilia |
|
Respiratory distress, Recurrent upper respiratory tract infections, Chronic rhinitis, Chronic sin... |
ORPHA:922 |
Ciliary Dyskinesia, Primary, 38 |
|
Chronic otitis media, Cough, Chronic sinusitis, Bronchiectasis, Neonatal respiratory distress, Rh... |
OMIM:618063 |
Ciliary Dyskinesia, Primary, 16 |
|
Chronic otitis media, Chronic rhinitis, Ciliary dyskinesia, Chronic sinusitis, Bronchiectasis, Ab... |
OMIM:614017 |
Ciliary Dyskinesia, Primary, 17 |
|
Cough, Chronic rhinitis, Ciliary dyskinesia, Chronic sinusitis, Bronchiectasis, Recurrent respira... |
OMIM:614679 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypertriglyceridemi... |
OMIM:618398 |
Sporadic Creutzfeldt-Jakob Disease |
|
Recurrent aspiration pneumonia, Sepsis, Recurrent infections, Respiratory failure requiring assis... |
ORPHA:204 |
Yellow Nail Syndrome |
|
Sinusitis, Rhinitis, Neoplasm of the lung, Cough, Pleuritis, Bronchiectasis, Dyspnea, Pulmonary a... |
ORPHA:662 |
Diarrhea 12, With Microvillus Atrophy |
|
Bronchiectasis, Respiratory tract infection |
OMIM:619445 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased circulating ferritin concentration, Failure to thrive, Hemophagocytosis, Splenomegaly, ... |
OMIM:267700 |
Nephronophthisis-Like Nephropathy 2 |
|
Bronchiectasis, Recurrent respiratory infections, Cough |
OMIM:619468 |
Whipple Disease |
|
Splenomegaly, Cachexia, Respiratory insufficiency, Myositis, Myocarditis, Pericarditis, Arthritis... |
ORPHA:3452 |
Galactose Epimerase Deficiency |
|
Weight loss, Splenomegaly |
ORPHA:79238 |
Immunodeficiency 65, Susceptibility To Viral Infections |
|
Bronchiectasis, Stomatitis, Recurrent viral infections, Recurrent gastroenteritis |
OMIM:618648 |
Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Eczema, Keratoconjunctivitis, Tachypnea, Perioral eczema, Weight loss, Thro... |
ORPHA:79242 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Inflammatory abnormality of the skin, Episodic tachypnea, Hypoproteinemia, ... |
ORPHA:26793 |
Immunodeficiency 21 |
|
Recurrent fungal infections, Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemi... |
OMIM:614172 |
Infection-Related Hemolytic Uremic Syndrome |
|
Increased circulating interleukin 6 concentration, Acute colitis, Pancreatitis, Leukocytosis, Ple... |
ORPHA:544482 |
Poems Syndrome |
|
Increased circulating antibody level, Polycythemia, Thrombocytosis, Restrictive ventilatory defec... |
ORPHA:2905 |
Pelizaeus-Merzbacher Disease |
|
Cachexia, Respiratory insufficiency, Failure to thrive in infancy, Recurrent respiratory infections |
ORPHA:702 |
Mirage Syndrome |
|
Decreased body weight, Lymphopenia, Aspiration pneumonia, Leukopenia, Sepsis, Recurrent urinary t... |
OMIM:617053 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disor... |
ORPHA:98849 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Elevated circulating creatine kinase concentration, Abnormal macrophage morphology |
ORPHA:353 |
Marfan Syndrome |
|
Pneumothorax, Pulmonary artery dilatation, Emphysema |
OMIM:154700 |
Shigellosis |
|
Splenic abscess, Acute colitis, Leukocytosis, Peritonitis, Abscess, Sepsis, Myocarditis, Arthriti... |
ORPHA:810 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Decreased circulating IgG level, Secretory IgA deficiency, Unilateral lung agenesis, Recurrent in... |
ORPHA:500150 |
Imerslund-Gräsbeck Syndrome |
|
Megaloblastic anemia, Failure to thrive, Neutropenia, Anisopoikilocytosis, Macrocytic anemia, Thr... |
ORPHA:35858 |
Panbronchiolitis, Diffuse |
|
Rhonchi, Crackles, Wheezing, Cough, Bronchiectasis, Hypoxemia |
OMIM:604809 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Otitis media, Sepsis, Splenomegaly, Recurrent urinary tract infections, Erythroid hypoplasia, Rec... |
OMIM:612541 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
Recurrent fungal infections, Chronic oral candidiasis, Abnormal T cell subset distribution, Decre... |
ORPHA:221139 |
Insulin-Resistance Syndrome Type B |
|
Decreased body weight, Increased circulating IgA level, Nephritis, Skin rash, Leukopenia, Osteoar... |
ORPHA:2298 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Hepatosplenomegaly, Weight loss, Hemophagocytosis, Panniculitis |
ORPHA:86884 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Weight loss, Splenomegaly |
ORPHA:86893 |
Multiple Myeloma |
|
Increased circulating IgA level, Splenomegaly, Hyperproteinemia, Increased circulating IgG level,... |
ORPHA:29073 |
Nephroblastoma |
|
Weight loss, Neoplasm of the lung |
ORPHA:654 |
Ataxia-Telangiectasia |
|
Failure to thrive, Decreased circulating IgA level, Sinusitis, Lymphopenia, Decreased circulating... |
OMIM:208900 |
Tubulointerstitial Nephritis With Uveitis |
|
Panuveitis, Anterior uveitis, Non-caseating epithelioid cell granulomatosis, Uveitis, Glomerulone... |
OMIM:607665 |
Hennekam-Beemer Syndrome |
|
Failure to thrive, Respiratory insufficiency, Pneumonia, Mastocytosis |
ORPHA:2135 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Sinusitis, Otitis media, Ciliary dyskinesia, Bronchiectasis, Immotile cilia... |
OMIM:606763 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Recurrent otitis media, Lymphopenia, Juvenile rheumatoid arthritis, Rheumatoid arthritis, Autoimm... |
OMIM:607944 |
Bone Marrow Failure Syndrome 6 |
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Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Recurrent sinusitis,... |
OMIM:618849 |
Lysinuric Protein Intolerance |
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Increased circulating ferritin concentration, Increased circulating antibody level, Failure to th... |
ORPHA:470 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
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Pneumonia |
OMIM:608033 |
Huntington Disease-Like 2 |
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Weight loss |
ORPHA:98934 |
Cryptococcosis |
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Respiratory distress, Osteomyelitis, Prostatitis, Nodular pattern on pulmonary HRCT, Peritonitis,... |
ORPHA:1546 |
Coccidioidomycosis |
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Respiratory distress, Unusual CNS infection, Pancreatitis, Abscess, Pneumonia, Pericarditis, Cocc... |
ORPHA:228123 |
Orofaciodigital Syndrome Viii |
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Recurrent aspiration pneumonia |
OMIM:300484 |
Fanconi Anemia, Complementation Group F |
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Failure to thrive, Leukopenia, Pneumonia, Bone marrow hypocellularity, Anemia, Thrombocytopenia |
OMIM:603467 |
Intestinal Dysmotility Syndrome |
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Failure to thrive, Weight loss |
OMIM:620045 |
Viss Syndrome |
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Failure to thrive, Decreased circulating IgA level, Chronic gastritis, Asthma, Eczema, Atopic der... |
OMIM:619472 |
Leukocyte Adhesion Deficiency Type Ii |
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Keratitis, Failure to thrive, Recurrent gastroenteritis, Abnormal isohemagglutinin level, Neutrop... |
ORPHA:99843 |
Loeffler Endocarditis |
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Eosinophilia, Cough, Pericarditis, Dyspnea, Weight loss |
ORPHA:75566 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
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Osteomyelitis, Elevated circulating C-reactive protein concentration, Skin rash, Palmoplantar pus... |
ORPHA:324964 |
Autoinflammation, Pannic |