Immunodeficiency With Defective T-Cell Response To Interleukin 1 |
|
Recurrent otitis media, Recurrent pneumonia |
OMIM:243110 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 3 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Pulmonary fibrosis... |
OMIM:616373 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 4 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Honeycomb lung, Pu... |
OMIM:616371 |
Ciliary Dyskinesia, Primary, 44 |
|
Neonatal respiratory distress, Reduced forced expiratory volume in one second, Reduced forced vit... |
OMIM:618781 |
Idiopathic Pulmonary Fibrosis |
|
Crackles, Bronchiectasis, Abnormal pulmonary interstitial morphology, Honeycomb lung, Pulmonary f... |
ORPHA:2032 |
Bronchiectasis With Or Without Elevated Sweat Chloride 3 |
|
Bronchiectasis, Chronic bronchitis |
OMIM:613071 |
Bronchiectasis With Or Without Elevated Sweat Chloride 1 |
|
Bronchiectasis, Chronic bronchitis |
OMIM:211400 |
Bronchiectasis With Or Without Elevated Sweat Chloride 2 |
|
Bronchiectasis, Chronic bronchitis |
OMIM:613021 |
Interstitial Lung Disease 2 |
|
Dyspnea, Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neutrophil proportion, Pu... |
OMIM:178500 |
Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... |
OMIM:253240 |
Cystic Hamartoma Of Lung And Kidney |
|
Recurrent respiratory infections, Pulmonary fibrosis, Respiratory insufficiency |
ORPHA:2111 |
Chronic Beryllium Disease |
|
Lymphocytic interstitial pneumonia, Hypersensitivity pneumonitis, Dyspnea, Abnormality on pulmona... |
ORPHA:133 |
Young Syndrome |
|
Recurrent sinopulmonary infections, Congenital pulmonary airway malformation, Bronchiectasis, Rec... |
OMIM:279000 |
Pulmonary Hemosiderosis |
|
Recurrent intrapulmonary hemorrhage, Pulmonary fibrosis, Respiratory insufficiency |
OMIM:178550 |
Immunodeficiency 51 |
|
Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic ... |
OMIM:613953 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... |
ORPHA:1303 |
Ciliary Dyskinesia, Primary, 42 |
|
Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat... |
OMIM:618695 |
Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... |
OMIM:615294 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... |
OMIM:610913 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
Interstitial Lung Disease 1 |
|
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res... |
OMIM:619611 |
Ciliary Dyskinesia, Primary, 39 |
|
Decreased nasal nitric oxide, Bronchiectasis, Cough, Recurrent otitis media, Recurrent lower resp... |
OMIM:618254 |
Sarcoidosis, Susceptibility To, 2 |
|
Erythema nodosum, Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morpholo... |
OMIM:612387 |
Asbestos Intoxication |
|
Reduced vital capacity, Reduced forced vital capacity, Atelectasis, Pleural thickening, Nonproduc... |
ORPHA:2302 |
Ciliary Dyskinesia, Primary, 23 |
|
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Respiratory... |
OMIM:615451 |
Ciliary Dyskinesia, Primary, 3 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:608644 |
Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... |
OMIM:615872 |
Ciliary Dyskinesia, Primary, 9 |
|
Neonatal respiratory distress, Pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Chronic r... |
OMIM:612444 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Dyspnea, Tachypnea, Abnormal pulmonary interstitial morphology, Crescentic glomerulonephritis, Ar... |
OMIM:616414 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Respiratory tract infection, Hypersensitivity pneumonitis, Nonproductive cough, Chronic pulmonary... |
ORPHA:79127 |
Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media... |
OMIM:616726 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Dyspnea, Nodular pattern on pulmonary HRCT, Cough |
ORPHA:60026 |
Ciliary Dyskinesia, Primary, 46 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... |
OMIM:619436 |
Mounier-Kühn Syndrome |
|
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis |
ORPHA:3347 |
Scedosporiosis |
|
Pericarditis, Sinusitis, Arthralgia/arthritis, Pneumonia, Bronchitis, Osteomyelitis, Bronchial br... |
ORPHA:449280 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:300991 |
Idiopathic Achalasia |
|
Bronchitis, Wheezing, Weight loss, Cough, Recurrent aspiration pneumonia |
ORPHA:930 |
Acute Interstitial Pneumonia |
|
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Atelect... |
ORPHA:79126 |
Ciliary Dyskinesia, Primary, 41 |
|
Recurrent otitis media, Impaired nasal mucociliary clearance, Bronchiectasis, Recurrent sinusitis |
OMIM:618449 |
Ciliary Dyskinesia, Primary, 27 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:615504 |
Hypersensitivity Pneumonitis, Familial |
|
Hypersensitivity pneumonitis |
OMIM:145300 |
Tracheobronchomegaly |
|
Recurrent bronchopulmonary infections, Bronchiectasis |
OMIM:275300 |
Combined Immunodeficiency, X-Linked |
|
Sinusitis, Recurrent bronchitis, Pneumonia, Otitis media |
OMIM:312863 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Crackles, Abnormal pleura morphology, Dyspnea, Restrictive ventilatory defect, Pulmonary fibrosis... |
ORPHA:210136 |
Ciliary Dyskinesia, Primary, 7 |
|
Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Restrictive ventilatory defect... |
OMIM:611884 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Atopic dermatitis, Recurrent upper respiratory tract infections, Pneumonia |
OMIM:618806 |
Idiopathic Bronchiectasis |
|
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Cachexia, ... |
ORPHA:60033 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recu... |
OMIM:263000 |
Ciliary Dyskinesia, Primary, 24 |
|
Neonatal respiratory distress, Chronic pulmonary obstruction, Decreased nasal nitric oxide, Bronc... |
OMIM:615481 |
Lymphoid Interstitial Pneumonia |
|
Multiple pulmonary cysts, Skin rash, Eczema, Crackles, Respiratory tract infection, Dyspnea, Whee... |
ORPHA:79128 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
|
Crackles, Dyspnea, Decreased DLCO, Pulmonary fibrosis, Cough, Reticular pattern on pulmonary HRCT... |
OMIM:614742 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Pneumonia |
OMIM:254120 |
Ciliary Dyskinesia, Primary, 28 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:615505 |
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome |
|
Neonatal asphyxia, Bronchiectasis, Congenital laryngeal stridor |
ORPHA:2375 |
Aspergillosis |
|
Sinusitis, Osteomyelitis, Pneumonia, Keratitis, Hypersensitivity pneumonitis, Dyspnea, Chronic pu... |
ORPHA:1163 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ... |
OMIM:610978 |
Idiopathic Pulmonary Hemosiderosis |
|
Glomerulonephritis, Crackles, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Dys... |
ORPHA:99931 |
Panbronchiolitis, Diffuse |
|
Crackles, Rhonchi, Wheezing, Bronchiectasis, Hypoxemia, Cough |
OMIM:604809 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... |
OMIM:619466 |
Diffuse Alveolar Hemorrhage |
|
Respiratory failure requiring assisted ventilation, Dyspnea, Increased DLCO, Weight loss, Hypoxem... |
ORPHA:90060 |
Familial Nasal Acilia |
|
Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi... |
ORPHA:922 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Weight loss, Aspiration pneumonia |
ORPHA:141152 |
Ciliary Dyskinesia, Primary, 11 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:612649 |
Autosomal Recessive Spastic Paraplegia Type 70 |
|
Abnormal pulmonary interstitial morphology |
ORPHA:401835 |
Ciliary Dyskinesia, Primary, 32 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... |
OMIM:616481 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 5 |
|
Pulmonary fibrosis |
OMIM:618674 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Diabetes mellitus, Dysp... |
ORPHA:140896 |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Restrictive ventilatory defect, Erysipelas, Pulmonary fibrosis |
OMIM:615704 |
Ciliary Dyskinesia, Primary, 45 |
|
Immotile cilia, Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis |
OMIM:618801 |
Fanconi Renotubular Syndrome 5 |
|
Pulmonary fibrosis, Glycosuria, Decreased DLCO, Emphysema, Lung adenocarcinoma |
OMIM:618913 |
Riddle Syndrome |
|
Pulmonary fibrosis |
OMIM:611943 |
Ciliary Dyskinesia, Primary, 43 |
|
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br... |
OMIM:618699 |
Ciliary Dyskinesia, Primary, 35 |
|
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Decreased nasal nitric oxid... |
OMIM:617092 |
Immunodeficiency 104 |
|
Eczema, Pneumonia, Chronic mucocutaneous candidiasis, Otitis media, Failure to thrive secondary t... |
OMIM:608971 |
Ciliary Dyskinesia, Primary, 34 |
|
Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, Decreased nasal nit... |
OMIM:617091 |
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis |
OMIM:620032 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Recurrent respiratory infections, Lung abscess, Pneumonia, Dyspnea, Intraalveolar phospholipid ac... |
OMIM:610910 |
Felty Syndrome |
|
Episcleritis, Recurrent respiratory infections, Pericarditis, Sinusitis, Recurrent pharyngitis, R... |
ORPHA:47612 |
Ciliary Dyskinesia, Primary, 26 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:615500 |
Immunodeficiency 60 And Autoimmunity |
|
Recurrent sinopulmonary infections, Bronchiectasis, Ulcerative colitis, Colitis, Pulmonary fibros... |
OMIM:618394 |
Antisynthetase Syndrome |
|
Recurrent respiratory infections, Myositis, Skin rash, Myocarditis, Abnormal pulmonary interstiti... |
ORPHA:81 |
Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... |
ORPHA:3348 |
Ciliary Dyskinesia, Primary, 25 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Productive cough, Chronic pulmon... |
OMIM:615482 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, F... |
ORPHA:264675 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... |
ORPHA:217563 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Recurrent respiratory infections, Lymphadenitis, Recurrent pneumonia, Chronic pulmonary obstructi... |
OMIM:618986 |
Retinal Dystrophy With Or Without Extraocular Anomalies |
|
Pulmonary fibrosis |
OMIM:617175 |
Immunodeficiency 48 |
|
Recurrent respiratory infections, Failure to thrive, Eczematoid dermatitis, Pneumonia |
OMIM:269840 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Bronchiolitis, Atelectasis, Pulmonary fibrosis, Exertional dyspnea |
ORPHA:254361 |
Ciliary Dyskinesia, Primary, 17 |
|
Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media... |
OMIM:614679 |
Niemann-Pick Disease, Type B |
|
Decreased DLCO, Recurrent respiratory infections, Abnormal pulmonary interstitial morphology, Dys... |
OMIM:607616 |
Ciliary Dyskinesia, Primary, 5 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Recurrent pneumonia, Bronchiecta... |
OMIM:608647 |
Alpha-1-Antitrypsin Deficiency |
|
Chronic bronchitis, Dyspnea, Wheezing, Chronic pulmonary obstruction, Panacinar emphysema, Bronch... |
OMIM:613490 |
Limited Cutaneous Systemic Sclerosis |
|
Pulmonary arterial hypertension, Pulmonary fibrosis |
ORPHA:220402 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Aspiration pneu... |
ORPHA:90117 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Asthma, Atopic dermatitis, Bronchiectasis, Ulcerative colitis, Colonic eosinophilia |
OMIM:617638 |
Ciliary Dyskinesia, Primary, 15 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Wheezing, Re... |
OMIM:613808 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Aspiration pneumonia |
OMIM:619477 |
Ciliary Dyskinesia, Primary, 12 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... |
OMIM:612650 |
Acute Lung Injury |
|
Respiratory distress, Acute pancreatitis, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachyp... |
ORPHA:178320 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Glomerulonephritis, Pneumonia |
OMIM:247800 |
Braddock Syndrome |
|
Pulmonary arterial hypertension, Neonatal respiratory distress, Failure to thrive, Pulmonary fibr... |
ORPHA:52047 |
Cd8 Deficiency, Familial |
|
Recurrent respiratory infections, Bronchiectasis |
OMIM:608957 |
Hermansky-Pudlak Syndrome 4 |
|
Epistaxis, Pulmonary fibrosis, Restrictive ventilatory defect |
OMIM:614073 |
Ciliary Dyskinesia, Primary, 16 |
|
Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Chronic otitis media, Ciliary dyskin... |
OMIM:614017 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal respiratory distress, Apnea, Dyspnea, Desquamative interstitial pneumonitis, Tachypnea, ... |
OMIM:265120 |
Pulmonary Alveolar Microlithiasis |
|
Bronchitis, Respiratory tract infection, Nonproductive cough, Pleural thickening, Pneumothorax, T... |
ORPHA:60025 |
Immunodeficiency 13 |
|
Recurrent upper respiratory tract infections, Bronchiolitis obliterans organizing pneumonia, Bron... |
OMIM:615518 |
Bare Lymphocyte Syndrome, Type I |
|
Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Chronic otitis media, Recurrent bron... |
OMIM:604571 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Type I diabetes mellitus, Emphysema, Pulmonary fibrosis |
OMIM:620365 |
Pneumocystosis |
|
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Nonproductive cough... |
ORPHA:723 |
Ciliary Dyskinesia, Primary, 38 |
|
Neonatal respiratory distress, Productive cough, Decreased nasal nitric oxide, Bronchiectasis, Im... |
OMIM:618063 |
Ciliary Dyskinesia, Primary, 30 |
|
Recurrent respiratory infections, Chronic bronchitis, Asthma, Bronchiectasis, Respiratory insuffi... |
OMIM:616037 |
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome |
|
Failure to thrive, Aspiration pneumonia |
OMIM:609528 |
Rigid Spine Syndrome |
|
Abnormality on pulmonary function testing, Pneumonia, Respiratory insufficiency |
ORPHA:97244 |
Allergic Bronchopulmonary Aspergillosis |
|
Asthma, Bronchiectasis, Respiratory insufficiency, Weight loss, Cough, Pulmonary arterial hyperte... |
ORPHA:1164 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Crackles, Atelectasis, Hypersensitivity pneumonitis, Nonproductive cough, Dyspnea, Wheezing, Asth... |
ORPHA:2902 |
Polymyositis |
|
Pericarditis, Abnormal pulmonary interstitial morphology, Respiratory insufficiency, Weight loss,... |
ORPHA:732 |
Ciliary Dyskinesia, Primary, 14 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Wheezing, Re... |
OMIM:613807 |
Riddle Syndrome |
|
Pneumonia, Bronchitis, Neonatal asphyxia, Recurrent pneumonia, Abnormal pulmonary interstitial mo... |
ORPHA:420741 |
Immunodeficiency 85 And Autoimmunity |
|
Recurrent respiratory infections, Failure to thrive in infancy, Eczema, Oligoarthritis, Pulmonary... |
OMIM:619510 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Acute pancreatitis, Eczema, Perianal abscess, Lymphadenitis, Recurrent pneumonia, Ulcerative coli... |
OMIM:618935 |
Microlissencephaly |
|
Pneumonia |
ORPHA:1083 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2 |
|
Pulmonary fibrosis |
OMIM:614743 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Restrictive ventilatory defect, Pulmonary fibrosis |
OMIM:619767 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, Arthritis, Conjunctivitis, Otitis media, Failure to thrive secondar... |
OMIM:601457 |
Ciliary Dyskinesia, Primary, 13 |
|
Bronchiectasis, Immotile cilia, Recurrent sinusitis, Recurrent otitis media, Ciliary dyskinesia, ... |
OMIM:613193 |
Ciliary Dyskinesia, Primary, 19 |
|
Recurrent respiratory infections, Bronchiectasis, Immotile cilia, Rhinitis, Respiratory insuffici... |
OMIM:614935 |
Mixed Connective Tissue Disease |
|
Myositis, Pericarditis, Skin rash, Gastritis, Dyspnea, Myocarditis, Abnormal pulmonary interstiti... |
ORPHA:809 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Recurrent respiratory infections, Myositis, Failure to thrive, Skin rash, Pustule, Tachypnea, Pul... |
OMIM:615934 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Respiratory distress, Osteomyelitis, Skin rash, Failure to thrive in infancy, Pustule, Pulmonary ... |
OMIM:612852 |
Ciliary Dyskinesia, Primary, 22 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:615444 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Recurrent sinopulmonary infections, Atrophic gastritis, Recurrent skin infections, Chronic pulmon... |
OMIM:616576 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Respiratory failure, Small for gestational age, Aspiration pneumonia |
OMIM:619057 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Maternal diabetes, Atelectasis, Neonatal asphyxia, Pneumothorax, Wheezing, ... |
ORPHA:70588 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Diabetes mellitus, Pneumonia, Nonproductive cough, Dyspnea, Pneumothorax, T... |
ORPHA:36238 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Recurrent respiratory infections, Decreased nasal nitric oxide, Bronchiectasis, Chronic cough, Re... |
OMIM:620197 |
Complement Factor B Deficiency |
|
Peritonitis, Pneumonia |
OMIM:615561 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Crackles, Atelectasis, Dyspnea, Asthma, Wheezing, Abnormal pulmonary interstitial morphology, Bro... |
OMIM:620233 |
Interstitial Lung And Liver Disease |
|
Dyspnea, Intraalveolar phospholipid accumulation, Abnormal pulmonary interstitial morphology, Res... |
OMIM:615486 |
Congenital Myopathy 21 With Early Respiratory Failure |
|
Nocturnal hypoventilation, Dyspnea, Respiratory failure, Lipoid pneumonia |
OMIM:620326 |
Hereditary Mucoepithelial Dysplasia |
|
Recurrent respiratory infections, Pulmonary fibrosis |
ORPHA:1839 |
Retinal Dystrophy And Microvillus Inclusion Disease |
|
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... |
OMIM:619446 |
Pulmonary Venoocclusive Disease 1, Autosomal Dominant |
|
Pulmonary arterial hypertension, Pulmonary venous occlusion, Interlobular septal thickening |
OMIM:265450 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Pulmonary fibrosis |
OMIM:611926 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Overweight, Pulmonary fibrosis |
ORPHA:457240 |
Reactive Arthritis |
|
Pericarditis, Osteomyelitis, Abnormal pleura morphology, Pustule, Respiratory insufficiency, Enth... |
ORPHA:29207 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Recurrent upper respiratory tract infections, Colitis, Abnormal pulmonary interstitial morphology... |
OMIM:613101 |
Surfactant Metabolism Dysfunction, Pulmonary, 5 |
|
Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insufficiency, Interlobular septal ... |
OMIM:614370 |
Neonatal Alloimmune Neutropenia |
|
Pneumonia, Maternal diabetes |
ORPHA:464370 |
Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira... |
ORPHA:70587 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Failure to thrive, Lymphocytic interstitial pneumonia |
OMIM:245590 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Pneumonia |
ORPHA:85179 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent respiratory infections, Recurrent bacterial skin infections, Pneumonia, Asthma, Atopic ... |
ORPHA:217390 |
Chitayat Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Abnormal pulmonary interstitial morpholog... |
OMIM:617180 |
Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Dyspnea, Hypoxemia, Diabetic ketoacidosis, Respiratory failure, Abnormal blood gas lev... |
ORPHA:70578 |
Immunodeficiency 75 With Lymphoproliferation |
|
Recurrent respiratory infections, Bronchiectasis |
OMIM:619126 |
Sarcoidosis, Susceptibility To, 1 |
|
Dyspnea, Iridocyclitis, Emphysema, Bronchiectasis, Abnormal pulmonary interstitial morphology, Uv... |
OMIM:181000 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Dyspnea, Pneumothorax, Chronic pulmonary obstruction, Bronchiecta... |
ORPHA:411703 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti... |
ORPHA:244 |
Immunodeficiency, Common Variable, 1 |
|
Pneumonia, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recurrent sinusitis, Recurrent ot... |
OMIM:607594 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Asthma, Re... |
ORPHA:209905 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Recurrent respiratory infections, Failure to thrive in infancy, Chronic mucocutaneous candidiasis... |
ORPHA:79124 |
Caspase 8 Deficiency |
|
Recurrent sinopulmonary infections, Eczema, Pneumonia, Asthma, Failure to thrive |
OMIM:607271 |
Diffuse Cutaneous Systemic Sclerosis |
|
Pulmonary arterial hypertension, Dyspnea, Pulmonary fibrosis, Arthritis |
ORPHA:220393 |
Immunodeficiency 77 |
|
Chronic pulmonary obstruction, Bronchiectasis, Cutaneous abscess |
OMIM:619223 |
Immunodeficiency 91 And Hyperinflammation |
|
Membranoproliferative glomerulonephritis, Maculopapular exanthema, Recurrent pneumonia, Abnormal ... |
OMIM:619644 |
Isolated Agammaglobulinemia |
|
Recurrent respiratory infections, Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pn... |
ORPHA:229717 |
Typhoid |
|
Skin rash, Epistaxis, Abnormal pulmonary interstitial morphology, Cough, Infectious encephalitis |
ORPHA:99745 |
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... |
OMIM:615139 |
Granulomatosis With Polyangiitis |
|
Recurrent respiratory infections, Pericarditis, Sinusitis, Recurrent intrapulmonary hemorrhage, E... |
ORPHA:900 |
Activated Pi3K-Delta Syndrome |
|
Pneumonia, Bronchiectasis, Arthritis, Recurrent otitis media, Recurrent upper and lower respirato... |
ORPHA:397596 |
Hermansky-Pudlak Syndrome 1 |
|
Epistaxis, Restrictive ventilatory defect, Inflammation of the large intestine, Colitis, Pulmonar... |
OMIM:203300 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Eczema, Desquamative interstitial pneumonitis, Recurrent upper respiratory tract infections, Inte... |
OMIM:615952 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Recurrent respiratory infections, Sinusitis, Bronchiectasis, Immotile cilia... |
OMIM:606763 |
Bronchial Neuroendocrine Tumor |
|
Pneumonia, Dyspnea, Nonproductive cough, Asthma, Wheezing, Abnormal pulmonary interstitial morpho... |
ORPHA:97287 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Restrictive ventilatory defect, Abnormal pulmonary interstitial morphology, Cough |
OMIM:619013 |
Juvenile Dermatomyositis |
|
Myositis, Pericarditis, Skin rash, Dyspnea, Weight loss, Restrictive ventilatory defect, Arthriti... |
ORPHA:93672 |
Immunodeficiency 65, Susceptibility To Viral Infections |
|
Stomatitis, Bronchiectasis |
OMIM:618648 |
Severe Combined Immunodeficiency, X-Linked |
|
Skin rash, Pneumonia, Recurrent pneumonia, Chronic oral candidiasis, Failure to thrive |
OMIM:300400 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Bronchiolitis, Recurrent otitis media, Periodontitis, Pneumonia |
OMIM:266265 |
Erdheim-Chester Disease |
|
Osteomyelitis, Skin rash, Dyspnea, Abnormal pulmonary interstitial morphology, Weight loss, Pulmo... |
ORPHA:35687 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... |
ORPHA:596 |
Immunodeficiency 57 With Autoinflammation |
|
Recurrent respiratory infections, Gastritis, Skin rash, Perianal abscess, Bronchiectasis, Inflamm... |
OMIM:618108 |
Niemann-Pick Disease, Type C2 |
|
Neonatal respiratory distress, Respiratory failure, Pulmonary fibrosis, Respiratory insufficiency |
OMIM:607625 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Interstitial pneumonitis, Restrictive ventilatory defect, Respiratory failure, Recurrent upper re... |
OMIM:620296 |
Lymphoid Interstitial Pneumonia |
|
Lymphocytic interstitial pneumonia |
OMIM:247610 |
Immunodeficiency 52 |
|
Failure to thrive, Recurrent pneumonia, Bronchiectasis, Chronic lung disease |
OMIM:617514 |
Slc35A1-Cdg |
|
Respiratory distress, Pneumonia, Pulmonary hemorrhage, Hypoxemia |
ORPHA:238459 |
Bone Marrow Failure Syndrome 5 |
|
Pulmonary fibrosis |
OMIM:618165 |
Bronchogenic Cyst |
|
Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Atelectasis, Dyspnea, Cough, Bronchogenic ... |
ORPHA:2357 |
Tularemia |
|
Respiratory distress, Skin rash, Pneumonia, Erythema nodosum, Conjunctivitis, Otitis media, Cough... |
ORPHA:3392 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Psoriasiform dermatitis, Pneumonia, Eczema, Recurrent upper respiratory tract... |
ORPHA:436159 |
Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Chronic otitis media, C... |
OMIM:244400 |
46,Xx Gonadal Dysgenesis |
|
Pulmonary fibrosis |
ORPHA:243 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Recurrent respiratory infections, Atrophic gastritis, Pneumonia, Erythema nodosum, Asthma, Recurr... |
OMIM:614700 |
Ciliary Dyskinesia, Primary, 37 |
|
Wheezing, Bronchiectasis, Chronic rhinitis, Rhinorrhea |
OMIM:617577 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Cholangitis, Bronchitis, Cholecystitis, Psoriasiform dermatitis, Epididymitis,... |
ORPHA:183675 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Bronchiolitis obliterans, Small for gestational age, Eczema, Failure to thrive in infancy |
OMIM:617241 |
Avian Influenza |
|
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, Ta... |
ORPHA:454836 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Dyspnea, Interstitial pneumonitis, Pulmonary fibrosis |
OMIM:127550 |
Systemic Sclerosis |
|
Pericarditis, Osteomyelitis, Recurrent skin infections, Glomerulonephritis, Dyspnea, Myocarditis,... |
ORPHA:90291 |
Immunodeficiency 27A |
|
Increased inflammatory response, Abnormal bronchus physiology, Pneumonia, Weight loss, Salmonella... |
OMIM:209950 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Decreased DLCO, Pulmonary fibrosis |
OMIM:613990 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Recurrent respiratory infections, Atelectasis, Tachypnea, Respiratory insufficiency, Respiratory ... |
OMIM:618278 |
Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Inflammatory abnormality of the skin, Cholangitis, Eczema, Pulmonary emboli... |
ORPHA:3260 |
Nephronophthisis-Like Nephropathy 2 |
|
Recurrent respiratory infections, Bronchiectasis, Cough |
OMIM:619468 |
Congenital Tracheomalacia |
|
Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac... |
ORPHA:95430 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Osteomyelitis, Bronchiectasis, Recurrent upper respiratory tract infections |
OMIM:608184 |
Immunodeficiency 32B |
|
Recurrent respiratory infections, Sinusitis, Pneumonia, Bronchiectasis, Failure to thrive |
OMIM:226990 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Crazy paving pattern, Crackles, Dyspnea, Intraalveolar phospholipid accumulation, Weight loss, Hy... |
ORPHA:747 |
Hermansky-Pudlak Syndrome 2 |
|
Recurrent pneumonia, Periodontitis, Pulmonary fibrosis, Chronic oral candidiasis, Recurrent otiti... |
OMIM:608233 |
Yellow Nail Syndrome |
|
Recurrent respiratory infections, Sinusitis, Dyspnea, Bronchiectasis, Neoplasm of the lung, Rhini... |
ORPHA:662 |
Wild Type Attr Amyloidosis |
|
Pleural effusion, Weight loss, Abnormal pulmonary interstitial morphology, Pulmonary edema |
ORPHA:330001 |
Fusariosis |
|
Fasciitis, Lung abscess, Sinusitis, Pneumonia, Myositis, Maculopapular exanthema, Keratitis, Hype... |
ORPHA:228119 |
Dermatomyositis |
|
Recurrent respiratory infections, Pericarditis, Myocarditis, Abnormal pulmonary interstitial morp... |
ORPHA:221 |
Autosomal Agammaglobulinemia |
|
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... |
ORPHA:33110 |
Immunodeficiency 56 |
|
Recurrent respiratory infections, Cholangitis, Recurrent pneumonia, Bronchiectasis, Recurrent sin... |
OMIM:615207 |
Q Fever |
|
Respiratory distress, Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Myocarditi... |
ORPHA:781 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Pneumonia, Recurrent pneumonia, Hepatitis, Erythroderma, Otitis media, Chronic oral candidiasis, ... |
ORPHA:169160 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Failure to thrive, Pulmonary fibrosis |
OMIM:613989 |
Melioidosis |
|
Foot osteomyelitis, Lung abscess, Pneumonia, Respiratory tract infection, Osteoarthritis, Hepatit... |
ORPHA:31202 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Small for gestational age, Apnea, Hypoglycemia, Bronchiectasis, Respiratory insufficiency, Aspira... |
OMIM:618253 |
Overlap Myositis |
|
Diabetes mellitus, Abnormal pulmonary interstitial morphology, Arthritis, Rheumatoid arthritis, P... |
ORPHA:206572 |
Gaucher Disease, Type I |
|
Dyspnea, Epistaxis, Abnormal pulmonary interstitial morphology, Pulmonary arterial hypertension |
OMIM:230800 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Recurrent upper respiratory tract infections, Pneumonia, Chronic bronchitis |
OMIM:614069 |
Insulin-Resistance Syndrome Type B |
|
Skin rash, Pneumonia, Osteoarthritis, Fasting hyperinsulinemia, Insulin resistance, Increased bod... |
ORPHA:2298 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Interstitial pneumonitis, ... |
OMIM:614878 |
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Recurrent aspiration pneumonia |
OMIM:619971 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eczema, Recurrent pne... |
OMIM:618282 |
Immune-Mediated Necrotizing Myopathy |
|
Myocarditis, Myositis, Skin rash, Abnormal pulmonary interstitial morphology |
ORPHA:206569 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum... |
ORPHA:2590 |
Hermansky-Pudlak Syndrome |
|
Dyspnea, Epistaxis, Pulmonary fibrosis, Weight loss |
ORPHA:79430 |
Diarrhea 12, With Microvillus Atrophy |
|
Respiratory tract infection, Bronchiectasis |
OMIM:619445 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Pneumonia, Bronchiectasis, Chronic bronchitis, Failure to thrive |
OMIM:242860 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Failure to thrive, Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis, Py... |
OMIM:242700 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Pulmonary fibrosis |
OMIM:224230 |
Oculopharyngodistal Myopathy |
|
Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Recurrent aspir... |
ORPHA:98897 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Pneumonia |
OMIM:608033 |
Agammaglobulinemia, X-Linked |
|
Enteroviral hepatitis, Prostatitis, Recurrent pneumonia, Epididymitis, Bronchiectasis, Wheezing, ... |
OMIM:300755 |
Timothy Syndrome |
|
Pulmonary arterial hypertension, Hypoglycemia, Pneumonia, Bronchitis |
OMIM:601005 |
Sarcoidosis |
|
Maculopapular exanthema, Abnormal pleura morphology, Erythema nodosum, Dyspnea, Abnormal lung mor... |
ORPHA:797 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Recurrent skin infections, Asthma, Recurrent upper respiratory tract infections, Recurrent pneumo... |
OMIM:619752 |
Immunodeficiency 58 |
|
Recurrent respiratory infections, Recurrent cutaneous abscess formation, Eczema, Allergic rhiniti... |
OMIM:618131 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the esophagus, Asthma, R... |
OMIM:243700 |
Common Variable Immunodeficiency |
|
Recurrent respiratory infections, Failure to thrive in infancy, Pneumonia, Bronchiectasis, Restri... |
ORPHA:1572 |
Hermansky-Pudlak Syndrome 10 |
|
Recurrent respiratory infections, Apnea, Abnormal pulmonary interstitial morphology |
OMIM:617050 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Recurrent respiratory infections, Psoriasiform dermatitis, Failure to thrive in infancy, Eczema, ... |
OMIM:606367 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Skin rash, Pustule, Dyspnea, Myocarditis, Hepatitis, Erythroderma, Thyroiditis, Weight loss, Tubu... |
ORPHA:139402 |
Nocardiosis |
|
Respiratory distress, Lymphadenitis, Nonproductive cough, Conjunctivitis, Emphysema, Infectious e... |
ORPHA:31204 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Lymphadenitis, Salmonella osteomyelitis, Pneumonia |
ORPHA:319552 |
Good Syndrome |
|
Recurrent respiratory infections, Sinusitis, Recurrent skin infections, Diabetes mellitus, Dyspne... |
ORPHA:169105 |
Cleft Velum |
|
Recurrent otitis media, Aspiration pneumonia |
ORPHA:99772 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Decreased nasal nitric oxide, Bronchiectasis, Productive cough |
OMIM:615434 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Restrictive ventilatory defect, Pneumonia |
OMIM:253700 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Myositis, Tubulointerstitial nephritis, Colitis, Psoriasiform dermatitis, H... |
ORPHA:37042 |
Pulmonary Capillary Hemangiomatosis |
|
Pulmonary edema, Diffuse alveolar hemorrhage, Pulmonary capillary hemangiomatosis, Dyspnea, Hypox... |
ORPHA:199241 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Skin rash, Pneumonia, Lymphadenitis, Chronic mucocutaneous c... |
ORPHA:911 |
Immunodeficiency 40 |
|
Respiratory tract infection, Recurrent pneumonia, Interstitial pneumonitis, Chronic oral candidia... |
OMIM:616433 |
Orofaciodigital Syndrome Viii |
|
Recurrent aspiration pneumonia |
OMIM:300484 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia, Rhinitis, Periodontitis... |
ORPHA:486 |
Autoimmune Lymphoproliferative Syndrome |
|
Gastritis, Glomerulonephritis, Hepatitis, Uveitis, Thyroiditis, Arthritis, Colitis, Panniculitis,... |
ORPHA:3261 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epididymitis, Pyoderma, Conjunctivitis,... |
OMIM:307200 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Pulmonary fibrosis |
OMIM:612199 |
Gaucher Disease |
|
Osteomyelitis, Osteoarthritis, Abnormal pulmonary interstitial morphology, Respiratory insufficie... |
ORPHA:355 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Fasciitis, Sinusitis, Myositis, Pneumonia, Osteomyelitis, Skin rash, Respir... |
ORPHA:36234 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Weight loss, Aspiration pneumonia, Cough |
ORPHA:216866 |
Al Amyloidosis |
|
Dyspnea, Nonproductive cough, Abnormal pulmonary interstitial morphology, Pulmonary interstitial ... |
ORPHA:85443 |
Primary Fanconi Renotubular Syndrome |
|
Glycosuria, Hypoglycemia, Pulmonary fibrosis, Weight loss |
ORPHA:3337 |
Whim Syndrome |
|
Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Atelectasis, Lymphadenit... |
ORPHA:51636 |
Immunodeficiency 89 And Autoimmunity |
|
Pulmonary bulla, Pleural thickening, Asthma, Bronchiectasis, Crohn's disease, Recurrent lower res... |
OMIM:619632 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent bacterial skin infections, Skin rash, Pneumonia, Cough, Recurrent cutaneous fungal infe... |
ORPHA:276 |
Ciliary Dyskinesia, Primary, 20 |
|
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... |
OMIM:615067 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Cachexia, Abnormal pulmonary interstitial morphology, Pulmonary... |
ORPHA:2072 |
Graft Versus Host Disease |
|
Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ga... |
ORPHA:39812 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Inflammatory abnormality of the skin, Small for gestational age, Pneumonia,... |
ORPHA:26793 |
Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Iridocyclitis, Hepatitis, Abnormal pulmonary interstitial morphology, Chronic... |
ORPHA:227990 |
Primary Sjögren Syndrome |
|
Myositis, Chronic active hepatitis, Parotitis, Lymphocytic interstitial pneumonia, Bronchitis, Gl... |
ORPHA:289390 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Apnea, Episodic tachypnea, Aspiration pneumonia |
ORPHA:79264 |
Sporadic Creutzfeldt-Jakob Disease |
|
Respiratory failure requiring assisted ventilation, Recurrent aspiration pneumonia |
ORPHA:204 |
Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Bronchitis, Lymphadenitis, Nephritis, Infectious encephalitis, ... |
ORPHA:2552 |
Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Iridocyclitis, Hepatitis, Abnormal pulmonary interstitial morphology, Chronic... |
ORPHA:227982 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Recurrent upper respiratory tract infections... |
OMIM:616100 |
Immunodeficiency 97 With Autoinflammation |
|
Recurrent sinopulmonary infections, Recurrent skin infections, Eczema, Bronchiolitis obliterans o... |
OMIM:619802 |
Immunodeficiency 92 |
|
Osteomyelitis, Pneumonia, Cholangitis, Sclerosing cholangitis, Esophagitis |
OMIM:619652 |
Omenn Syndrome |
|
Failure to thrive, Pneumonia, Thyroiditis, Erythroderma |
ORPHA:39041 |
Brucellosis |
|
Bronchitis, Knee osteoarthritis, Infectious encephalitis, Epididymitis, Pneumonia, Arteritis, Ple... |
ORPHA:1304 |
Bloom Syndrome |
|
Diabetes mellitus, Skin rash, Pneumonia, Bronchitis, Small for gestational age, Respiratory tract... |
ORPHA:125 |
Roifman-Chitayat Syndrome |
|
Arthritis, Pneumonia |
OMIM:613328 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Abnormal respiratory system physiology, Recurrent respiratory infections, Respiratory failure, Pn... |
ORPHA:98905 |
Gaucher Disease Type 1 |
|
Pulmonary arterial hypertension, Osteoarthritis, Abnormal pulmonary interstitial morphology |
ORPHA:77259 |
Purine Nucleoside Phosphorylase Deficiency |
|
Sinusitis, Pneumonia, Recurrent upper respiratory tract infections, Otitis media, Recurrent lower... |
OMIM:613179 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Pneumonia, Recurrent upper respiratory tract infections, Recurrent otitis media, Recurrent lower ... |
OMIM:600802 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Interstitial pneumonitis |
ORPHA:231154 |
Dyskeratosis Congenita, X-Linked |
|
Restrictive ventilatory defect, Conjunctivitis, Pulmonary fibrosis, Blepharitis |
OMIM:305000 |
Hereditary Bullous Dystrophy, Macular Type |
|
Pneumonia |
ORPHA:1867 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia |
ORPHA:314655 |
Mercury Poisoning |
|
Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure |
ORPHA:330021 |
Cryptococcosis |
|
Respiratory distress, Osteomyelitis, Pneumonia, Nodular pattern on pulmonary HRCT, Dyspnea, Perit... |
ORPHA:1546 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Failure to thrive, Sinusitis, Pneumonia, Atypical or prolonged hepatitis, Thyroiditis, Chronic or... |
ORPHA:83471 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Small for gestational age, Hypoglycemia, Tachypnea, Abnormal pulmonary interstitial morphology, R... |
OMIM:613658 |
Mucoepithelial Dysplasia, Hereditary |
|
Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Fibrocys... |
OMIM:158310 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Failure to thrive, Pancreatitis, Aspiration pneumonia |
ORPHA:431361 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recurrent ... |
OMIM:601495 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Small for gestational age, Neonatal respiratory distress, Recurrent aspiration pneumonia |
ORPHA:79243 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Failure to thrive, Recurrent upper respiratory tract infections, Pneumonia, Otitis media |
OMIM:602450 |
Zygomycosis |
|
Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Cough, Nephritis, Infectious encephali... |
ORPHA:73263 |
Kawasaki Disease |
|
Pericarditis, Skin rash, Recurrent pharyngitis, Myocarditis, Hepatitis, Abnormal pulmonary inters... |
ORPHA:2331 |
Shigellosis |
|
Failure to thrive in infancy, Pneumonia, Hypoglycemia, Myocarditis, Peritonitis, Uveitis, Ulcerat... |
ORPHA:810 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Inflammatory abnormality of the skin, Sinusitis, Skin rash, Pneumonia, Asthma, Recurrent pneumoni... |
OMIM:102700 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Keratitis, Dyspnea, Weight los... |
ORPHA:1018 |
Omenn Syndrome |
|
Failure to thrive, Pneumonia, Erythroderma |
OMIM:603554 |
Proximal Spinal Muscular Atrophy |
|
Hypoventilation, Neonatal respiratory distress, Recurrent infections due to aspiration, Respirato... |
ORPHA:70 |
Gaucher Disease, Type Ii |
|
Apnea, Stridor, Cough, Bronchiolitis, Failure to thrive, Recurrent aspiration pneumonia |
OMIM:230900 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Chronic otitis media, Pneumonia |
ORPHA:169090 |
Cystic Fibrosis |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent bronchop... |
OMIM:219700 |
Alpha-Mannosidosis, Adult Form |
|
Pneumonia |
ORPHA:309288 |
Gaucher Disease Type 3 |
|
Recurrent respiratory infections, Abnormal pulmonary interstitial morphology, Pulmonary arterial ... |
ORPHA:77261 |
Goodpasture Syndrome |
|
Glomerulonephritis, Nodular pattern on pulmonary HRCT, Crackles, Increased DLCO, Tachypnea, Weigh... |
OMIM:233450 |
Geleophysic Dysplasia 3 |
|
Dyspnea, Respiratory failure, Pneumonia |
OMIM:617809 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Failure to thrive, Hypoglycemia, Pneumonia |
ORPHA:90790 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Abnormal p... |
OMIM:614748 |
Atrial Septal Defect, Coronary Sinus Type |
|
Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous return, P... |
ORPHA:99104 |
Infantile Neuroaxonal Dystrophy |
|
Apneic episodes in infancy, Aspiration pneumonia |
ORPHA:35069 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Recurrent respiratory infections, Pneumonia, Restrictive ventilatory defect, Recurrent sinusitis,... |
OMIM:607944 |
Chronic Graft Versus Host Disease |
|
Fasciitis, Dyspnea, Wheezing, Pneumothorax, Urinary bladder inflammation, Bronchiectasis, Weight ... |
ORPHA:99921 |
Infection-Related Hemolytic Uremic Syndrome |
|
Diabetes mellitus, Pneumonia, Respiratory tract infection, Dyspnea, Myocarditis, Pleural empyema,... |
ORPHA:544482 |
Listeriosis |
|
Respiratory distress, Pericarditis, Osteomyelitis, Pneumonia, Pustule, Myocarditis, Peritonitis, ... |
ORPHA:533 |
Atrial Septal Defect, Ostium Secundum Type |
|
Orthopnea, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance, Dyspnea, ... |
ORPHA:99103 |
Mohr-Tranebjaerg Syndrome |
|
Aspiration pneumonia |
ORPHA:52368 |
X-Linked Dystonia-Parkinsonism |
|
Aspiration pneumonia |
ORPHA:53351 |
Hennekam-Beemer Syndrome |
|
Failure to thrive, Pneumonia, Respiratory insufficiency |
ORPHA:2135 |
Knobloch Syndrome 2 |
|
Recurrent respiratory infections, Abnormal pulmonary interstitial morphology |
OMIM:618458 |
Coccidioidomycosis |
|
Respiratory distress, Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Cough, Erythema nodosum,... |
ORPHA:228123 |
Cholera |
|
Tachypnea, Hypoglycemia, Aspiration pneumonia, Hyperventilation |
ORPHA:173 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Failure to thrive, Aspiration pneumonia |
OMIM:616430 |
Kikuchi-Fujimoto Disease |
|
Skin rash, Pustule, Myocarditis, Abnormal pulmonary interstitial morphology, Weight loss, Pleural... |
ORPHA:50918 |
Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Lymphocytic interstitial pneumonia, Pneumonia, Osteomyelitis, Re... |
ORPHA:2968 |
Bickerstaff Brainstem Encephalitis |
|
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... |
ORPHA:79138 |
Spondyloenchondrodysplasia |
|
Skin rash, Pneumonia, Hepatitis, Arthritis, Juvenile rheumatoid arthritis |
ORPHA:1855 |
Farber Disease |
|
Respiratory distress, Nodular pattern on pulmonary HRCT, Atelectasis, Recurrent upper respiratory... |
ORPHA:333 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Pneumonia, Epistaxis, Glomerulonephritis, Dyspnea, Acute tubulointerstitial... |
ORPHA:340 |
Mirage Syndrome |
|
Hypoglycemia, Aspiration pneumonia, Decreased body weight |
OMIM:617053 |
Chops Syndrome |
|
Obesity, Anomalous pulmonary venous return, Aspiration pneumonia, Tracheomalacia, Chronic lung di... |
OMIM:616368 |
Gm1 Gangliosidosis |
|
Recurrent respiratory infections, Weight loss, Aspiration pneumonia, Failure to thrive, Infectiou... |
ORPHA:354 |
Orofaciodigital Syndrome Ix |
|
Recurrent aspiration pneumonia |
OMIM:258865 |
Immunodeficiency 82 With Systemic Inflammation |
|
Osteomyelitis, Skin rash, Pneumonia, Bronchitis, Recurrent skin infections, Gastritis, Bronchiect... |
OMIM:619381 |
Postinfectious Vasculitis |
|
Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ... |
ORPHA:48435 |
Cystic Fibrosis |
|
Recurrent respiratory infections, Sinusitis, Reduced forced expiratory volume in one second, Asth... |
ORPHA:586 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Aspiration pneumonia |
OMIM:619167 |
Congenital Fiber-Type Disproportion Myopathy |
|
Recurrent respiratory infections, Hypercapnia, Respiratory insufficiency due to muscle weakness, ... |
ORPHA:2020 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Hypoventilation, Apnea, Hypopnea, Restrictive ventilatory defect, Aspiration pneumonia |
OMIM:619482 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Skin rash, Pneumonia |
ORPHA:247691 |
Acute Radiation Syndrome |
|
Inflammatory abnormality of the skin, Interstitial pneumonitis |
ORPHA:454831 |
Fanconi Anemia, Complementation Group F |
|
Failure to thrive, Pneumonia |
OMIM:603467 |
Lissencephaly Due To Lis1 Mutation |
|
Aspiration pneumonia |
ORPHA:95232 |
Shwachman-Diamond Syndrome |
|
Sinusitis, Skin rash, Eczema, Pneumonia, Osteomyelitis, Diabetes mellitus, Failure to thrive |
ORPHA:811 |
Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Skin rash, Chilblains, Pneumonia, Hepatitis, Atopic dermatitis, Weight loss, ... |
OMIM:615846 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Recurrent pneumonia, Recurrent aspiration pneumonia |
OMIM:300472 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Recurrent skin infections, Pneumonia, Dyspnea, Pneumothorax, Gastrointestin... |
ORPHA:79404 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Progressive pulmonary function impairment, Respiratory failure requiring assisted ventilation, Ab... |
ORPHA:77293 |
Amoebiasis Due To Free-Living Amoebae |
|
Sinusitis, Pneumonia, Respiratory tract infection, Pustule, Infectious encephalitis |
ORPHA:68 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Recurrent respiratory infections, Apnea, Tachypnea, Failure to thrive, Recurrent aspiration pneum... |
ORPHA:397715 |
Mucopolysaccharidosis, Type Vi |
|
Restrictive ventilatory defect, Recurrent upper respiratory tract infections, Pneumonia, Pulmonar... |
OMIM:253200 |
Marshall-Smith Syndrome |
|
Apnea, Recurrent upper respiratory tract infections, Stridor, Aspiration pneumonia, Decreased bod... |
OMIM:602535 |
Igg4-Related Kidney Disease |
|
Pericarditis, Inflammatory abnormality of the skin, Lymphadenitis, Abnormal lung morphology, Urin... |
ORPHA:449395 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Anterior uveitis, Infla... |
ORPHA:95455 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Recurrent aspiration pneumonia |
ORPHA:73230 |
Mucopolysaccharidosis Type 3 |
|
Recurrent sinopulmonary infections, Respiratory tract infection, Upper airway obstruction, Aspira... |
ORPHA:581 |
Gm1 Gangliosidosis Type 1 |
|
Aspiration pneumonia |
ORPHA:79255 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Truncal obesity, Aspiration pneumonia, Seborrheic dermatitis |
OMIM:301072 |
Cornelia De Lange Syndrome 1 |
|
Pneumonia, Otitis media |
OMIM:122470 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Asthma, Obesity, Aspiration pneumonia, Tracheomalacia, Pulmonary arterial hypertension, Hyperglyc... |
ORPHA:444077 |
Alpha-Mannosidosis, Infantile Form |
|
Pneumonia, Otitis media |
ORPHA:309282 |
Tay-Sachs Disease |
|
Aspiration pneumonia |
ORPHA:845 |
Plague |
|
Respiratory distress, Chapped lip, Skin rash, Erythema nodosum, Lymphadenitis, Enterocolitis, End... |
ORPHA:707 |
Degcags Syndrome |
|
Small for gestational age, Pneumonia, Asthma, Rhinitis, Tracheomalacia, Pulmonary arterial hypert... |
OMIM:619488 |
Neuroleptic Malignant Syndrome |
|
Aspiration pneumonia, Pulmonary embolism |
ORPHA:94093 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Eczema, Pneumonia, Peritonitis, Cough, Recurrent otitis media, Hyperinsulinemi... |
OMIM:619991 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Aspiration pneumonia |
ORPHA:99027 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... |
OMIM:130050 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Recurrent respiratory infections, Pneumonia, Asthma, Obesity, Otitis media, Failure to thrive |
ORPHA:353281 |
Semilobar Holoprosencephaly |
|
Central apnea, Aspiration pneumonia, Failure to thrive, Abnormal pattern of respiration, Chronic ... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Central apnea, Aspiration pneumonia, Failure to thrive, Abnormal pattern of respiration, Chronic ... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Central apnea, Aspiration pneumonia, Failure to thrive, Abnormal pattern of respiration, Chronic ... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Central apnea, Aspiration pneumonia, Failure to thrive, Abnormal pattern of respiration, Chronic ... |
ORPHA:93924 |
Niemann-Pick Disease Type C |
|
Abnormal lung morphology, Respiratory failure, Respiratory insufficiency, Aspiration pneumonia |
ORPHA:646 |
Coffin-Siris Syndrome |
|
Recurrent upper respiratory tract infections, Aspiration pneumonia |
ORPHA:1465 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Recurrent respiratory infections, Pneumonia, Asthma, Obesity, Otitis media, Aspiration, Failure t... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Recurrent respiratory infections, Pneumonia, Asthma, Obesity, Otitis media, Aspiration, Failure t... |
ORPHA:353277 |
Wiedemann-Rautenstrauch Syndrome |
|
Recurrent respiratory infections, Failure to thrive, Small for gestational age, Pneumonia |
OMIM:264090 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Hypoventilation, Apnea, Aspiration pneumonia, Breathing dysregulation |
ORPHA:438213 |
Lafora Disease |
|
Recurrent aspiration pneumonia |
ORPHA:501 |
Doors Syndrome |
|
Respiratory distress, Aspiration pneumonia |
ORPHA:79500 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Asthma, Failure to thrive, Skin rash, Allergic rhinitis |
OMIM:612714 |
Yunis-Varon Syndrome |
|
Small for gestational age, Failure to thrive in infancy, Aspiration pneumonia, Severe failure to ... |
OMIM:216340 |
Pmm2-Cdg |
|
Respiratory distress, Pericarditis, Insulin resistance, Hyperinsulinemia, Aspiration pneumonia, F... |
ORPHA:79318 |