Joubert Syndrome 13 |
|
Cerebellar vermis hypoplasia, Molar tooth sign on MRI |
OMIM:614173 |
Immunodeficiency 11 |
|
Recurrent respiratory infections, Pneumonia |
OMIM:615206 |
Immunodeficiency 51 |
|
Chronic furunculosis, Chronic oral candidiasis, Folliculitis, Recurrent cutaneous fungal infectio... |
OMIM:613953 |
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 |
Ciliary Dyskinesia, Primary, 44 |
|
Reduced forced expiratory volume in one second, Otitis media, Reduced forced vital capacity, Recu... |
OMIM:618781 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Asthma, Atopic dermatitis, Pneumonia |
OMIM:617638 |
Young Syndrome |
|
Bronchiectasis, Recurrent bronchitis, Congenital pulmonary airway malformation, Recurrent sinopul... |
OMIM:279000 |
Joubert Syndrome 25 |
|
Molar tooth sign on MRI, Cerebellar hypoplasia |
OMIM:616781 |
Mounier-Kühn Syndrome |
|
Bronchitis, Recurrent bronchopulmonary infections, Pneumonia, Recurrent respiratory infections |
ORPHA:3347 |
Immunodeficiency 32B |
|
Bronchiectasis, Sinusitis, Recurrent respiratory infections, Pneumonia |
OMIM:226990 |
Tracheopathia Osteoplastica |
|
Dyspnea, Wheezing, Recurrent pneumonia, Cough |
OMIM:189961 |
Ciliary Dyskinesia, Primary, 42 |
|
Chronic pulmonary obstruction, Respiratory insufficiency, Reduced forced vital capacity, Recurren... |
OMIM:618695 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Reduced forced expiratory volume in one second, Airway obstruction, Reduced FEV1/FVC ratio, Bronc... |
ORPHA:1303 |
Mucus Inspissation Of Respiratory Tract |
|
Bronchiectasis, Chronic sinusitis, Chronic pulmonary obstruction, Recurrent respiratory infections |
OMIM:253240 |
Ciliary Dyskinesia, Primary, 9 |
|
Recurrent otitis media, Chronic otitis media, Cough, Recurrent sinusitis, Chronic rhinitis, Chron... |
OMIM:612444 |
Combined Immunodeficiency, X-Linked |
|
Sinusitis, Recurrent bronchitis, Pneumonia, Otitis media |
OMIM:312863 |
Ciliary Dyskinesia, Primary, 23 |
|
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic bro... |
OMIM:615451 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Atopic dermatitis, Recurrent upper respiratory tract infections, Pneumonia |
OMIM:618806 |
Lung Cancer |
|
Lung adenocarcinoma, Non-small cell lung carcinoma, Alveolar cell carcinoma |
OMIM:211980 |
Ciliary Dyskinesia, Primary, 21 |
|
Recurrent otitis media, Chronic sinusitis, Recurrent pneumonia, Ciliary dyskinesia, Neonatal resp... |
OMIM:615294 |
Cholesterol Pneumonia |
|
Cough, Pneumonia, Tachypnea |
OMIM:215030 |
Ciliary Dyskinesia, Primary, 46 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent sinusiti... |
OMIM:619436 |
Tracheobronchomegaly |
|
Bronchiectasis, Recurrent bronchopulmonary infections |
OMIM:275300 |
Ciliary Dyskinesia, Primary, 27 |
|
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic bro... |
OMIM:615504 |
Ciliary Dyskinesia, Primary, 3 |
|
Recurrent otitis media, Recurrent sinusitis, Ciliary dyskinesia, Bronchiectasis, Neonatal respira... |
OMIM:608644 |
Ciliary Dyskinesia, Primary, 39 |
|
Chronic lung disease, Cough, Recurrent lower respiratory tract infections, Rhinorrhea, Recurrent ... |
OMIM:618254 |
Idiopathic Achalasia |
|
Recurrent aspiration pneumonia, Bronchitis, Wheezing, Cough |
ORPHA:930 |
Ciliary Dyskinesia, Primary, 33 |
|
Cough, Recurrent lower respiratory tract infections, Chronic rhinitis, Recurrent bronchitis, Cili... |
OMIM:616726 |
Ciliary Dyskinesia, Primary, 32 |
|
Ciliary dyskinesia, Neonatal respiratory distress, Bronchiectasis, Immotile cilia, Recurrent resp... |
OMIM:616481 |
Ciliary Dyskinesia, Primary, 41 |
|
Recurrent sinusitis, Impaired nasal mucociliary clearance, Recurrent otitis media, Bronchiectasis |
OMIM:618449 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Pneumonia |
OMIM:254120 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Cough, Recurrent sinusitis, Bronchiectasis, Neonatal respiratory distress, Recurrent respiratory ... |
OMIM:300991 |
Immunodeficiency 62 |
|
Bronchiectasis |
OMIM:618459 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Aspiration pneumonia, Hamartoma, Upper airway obstruction, Dyspnea |
ORPHA:141152 |
Tumor Predisposition Syndrome 1 |
|
Lung adenocarcinoma, Cutaneous melanoma, Malignant mesothelioma, Renal cell carcinoma, Uveal mela... |
OMIM:614327 |
Idiopathic Bronchiectasis |
|
Reduced FEV1/FVC ratio, Crackles, Acute infectious pneumonia, Wheezing, Recurrent lower respirato... |
ORPHA:60033 |
Immunodeficiency 104 |
|
Otitis media, Eczema, Chronic mucocutaneous candidiasis, Pneumonia, Recurrent otitis media |
OMIM:608971 |
Ciliary Dyskinesia, Primary, 28 |
|
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic bro... |
OMIM:615505 |
Joubert Syndrome 33 |
|
Molar tooth sign on MRI |
OMIM:617767 |
Meckel Syndrome 13 |
|
Molar tooth sign on MRI, Cerebellar hypoplasia |
OMIM:617562 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Asthma, Recurrent bacterial skin infections, Atopic dermatitis, Anal canal squamous carcinoma, Ch... |
ORPHA:217390 |
Interstitial Lung Disease 1 |
|
Interlobular septal thickening, Crackles, Cough, Decreased DLCO, Intralobular septal thickening, ... |
OMIM:619611 |
Joubert Syndrome 4 |
|
Elongated superior cerebellar peduncle, Thickened superior cerebellar peduncle, Molar tooth sign ... |
OMIM:609583 |
Ciliary Dyskinesia, Primary, 7 |
|
Reduced FEV1/FVC ratio, Cough, Chronic rhinitis, Ciliary dyskinesia, Recurrent pneumonia, Restric... |
OMIM:611884 |
Joubert Syndrome 27 |
|
Molar tooth sign on MRI |
OMIM:617120 |
Ciliary Dyskinesia, Primary, 29 |
|
Bronchiectasis, Decreased nasal nitric oxide, Ciliary dyskinesia, Recurrent respiratory infections |
OMIM:615872 |
Ciliary Dyskinesia, Primary, 24 |
|
Sinusitis, Recurrent sinusitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis |
OMIM:615481 |
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Recurrent sinusitis, Recurrent otitis media, Recurrent pneumonia, Bronchiectasis |
OMIM:620032 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Aspiration pneumonia |
OMIM:619477 |
Idiopathic Pulmonary Fibrosis |
|
Crackles, Reticular pattern on pulmonary HRCT, Abnormal pulmonary interstitial morphology, Cough,... |
ORPHA:2032 |
Ciliary Dyskinesia, Primary, 45 |
|
Bronchiectasis, Chronic rhinitis, Immotile cilia, Recurrent respiratory infections |
OMIM:618801 |
Ciliary Dyskinesia, Primary, 11 |
|
Chronic bronchitis, Recurrent sinusitis, Chronic rhinitis, Ciliary dyskinesia, Neonatal respirato... |
OMIM:612649 |
Immunodeficiency 48 |
|
Eczematoid dermatitis, Recurrent respiratory infections, Pneumonia |
OMIM:269840 |
Joubert Syndrome 36 |
|
Molar tooth sign on MRI |
OMIM:618763 |
Joubert Syndrome 10 |
|
Cerebellar vermis hypoplasia, Molar tooth sign on MRI |
OMIM:300804 |
Alpha-1-Antitrypsin Deficiency |
|
Panacinar emphysema, Chronic pulmonary obstruction, Chronic bronchitis, Hepatocellular carcinoma,... |
OMIM:613490 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Glomerulonephritis, Pneumonia |
OMIM:247800 |
Immunodeficiency 75 |
|
Bronchiectasis, Lymphoma, Recurrent respiratory infections |
OMIM:619126 |
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome |
|
Bronchiectasis, Neonatal asphyxia, Congenital laryngeal stridor |
ORPHA:2375 |
Joubert Syndrome 30 |
|
Dandy-Walker malformation, Superior cerebellar dysplasia, Molar tooth sign on MRI, Cerebellar atr... |
OMIM:617622 |
Ciliary Dyskinesia, Primary, 35 |
|
Cough, Chronic rhinitis, Chronic sinusitis, Bronchiectasis, Recurrent respiratory infections |
OMIM:617092 |
Ciliary Dyskinesia, Primary, 25 |
|
Sinusitis, Chronic pulmonary obstruction, Recurrent sinusitis, Ciliary dyskinesia, Bronchiectasis... |
OMIM:615482 |
Joubert Syndrome 17 |
|
Cerebellar vermis hypoplasia, Molar tooth sign on MRI |
OMIM:614615 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Neoplasm, Chronic lung disease, Acute infectious pneumonia, Respiratory fai... |
ORPHA:140896 |
Ciliary Dyskinesia, Primary, 20 |
|
Respiratory insufficiency due to defective ciliary clearance, Cough, Recurrent sinusitis, Ciliary... |
OMIM:615067 |
Ciliary Dyskinesia, Primary, 26 |
|
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic bro... |
OMIM:615500 |
Ciliary Dyskinesia, Primary, 43 |
|
Recurrent upper respiratory tract infections, Recurrent lower respiratory tract infections, Chron... |
OMIM:618699 |
Septopreoptic Holoprosencephaly |
|
Rhombencephalosynapsis, Hypoplasia of the pons, Abnormal midbrain morphology |
ORPHA:280195 |
Bare Lymphocyte Syndrome, Type I |
|
Chronic otitis media, Bronchiolitis, Recurrent bronchitis, Chronic sinusitis, Emphysema, Bronchie... |
OMIM:604571 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Chronic bronchitis, Pneumonia |
OMIM:614069 |
Ciliary Dyskinesia, Primary, 5 |
|
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic bro... |
OMIM:608647 |
Cd8 Deficiency, Familial |
|
Bronchiectasis, Recurrent respiratory infections |
OMIM:608957 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Chronic otitis media, Abnormal mucociliary clearance, Bronchiectasis, Recur... |
OMIM:619466 |
Ciliary Dyskinesia, Primary, 34 |
|
Neonatal respiratory distress, Recurrent sinusitis, Chronic rhinitis, Recurrent bronchitis, Reduc... |
OMIM:617091 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Chronic bronchitis, Hypoxemia, Nonproducti... |
ORPHA:79127 |
Familial Nasal Acilia |
|
Respiratory distress, Recurrent upper respiratory tract infections, Chronic rhinitis, Chronic sin... |
ORPHA:922 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Intraalveolar phospholipid accumulation, Cough, Decreased DLCO, Pneumonia, Restrictive ventilator... |
OMIM:610910 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Otitis media, Purulent rhinitis, Arthritis, Pneumonia, Conjunctivitis |
OMIM:601457 |
Ciliary Dyskinesia, Primary, 16 |
|
Chronic otitis media, Chronic rhinitis, Chronic sinusitis, Ciliary dyskinesia, Bronchiectasis, Ab... |
OMIM:614017 |
Ciliary Dyskinesia, Primary, 15 |
|
Recurrent otitis media, Chronic bronchitis, Cough, Wheezing, Chronic sinusitis, Recurrent pneumon... |
OMIM:613808 |
Microlissencephaly |
|
Pneumonia |
ORPHA:1083 |
Tracheobronchopathia Osteochondroplastica |
|
Respiratory insufficiency, Wheezing, Bronchitis, Recurrent pneumonia, Pneumonia, Esophagitis, Upp... |
ORPHA:3348 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Absent bronchoalveolar surfactant-protein C, Desquamative interstitial pneu... |
OMIM:610913 |
Panbronchiolitis, Diffuse |
|
Hypoxemia, Rhonchi, Crackles, Cough, Wheezing, Bronchiectasis |
OMIM:604809 |
Ciliary Dyskinesia, Primary, 12 |
|
Chronic pulmonary obstruction, Chronic otitis media, Chronic rhinitis, Chronic sinusitis, Ciliary... |
OMIM:612650 |
Immunodeficiency, Common Variable, 1 |
|
Recurrent sinusitis, Recurrent bronchitis, Recurrent pneumonia, Pneumonia, Recurrent otitis media... |
OMIM:607594 |
Joubert Syndrome 16 |
|
Molar tooth sign on MRI, Dandy-Walker malformation |
OMIM:614465 |
Gómez-López-Hernández Syndrome |
|
Cerebellar vermis hypoplasia, Abnormal cerebellum morphology, Abnormal brainstem morphology |
ORPHA:1532 |
Pneumocystosis |
|
Neoplasm, Chronic oral candidiasis, Multiple pulmonary cysts, Hypoxemia, Nonproductive cough, Int... |
ORPHA:723 |
Rigid Spine Syndrome |
|
Respiratory insufficiency, Abnormality on pulmonary function testing, Pneumonia |
ORPHA:97244 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Molar tooth sign on MRI |
ORPHA:166024 |
Joubert Syndrome 32 |
|
Abnormal cerebellum morphology, Molar tooth sign on MRI |
OMIM:617757 |
Ravine Syndrome |
|
Atrophy/Degeneration affecting the brainstem, Abnormal brainstem morphology |
ORPHA:99852 |
Li-Fraumeni Syndrome |
|
Neoplasm of the pancreas, Lung adenocarcinoma, Choriocarcinoma, Breast carcinoma, Prostate cancer... |
OMIM:151623 |
Ciliary Dyskinesia, Primary, 17 |
|
Cough, Chronic rhinitis, Chronic sinusitis, Ciliary dyskinesia, Bronchiectasis, Recurrent respira... |
OMIM:614679 |
Joubert Syndrome 40 |
|
Molar tooth sign on MRI |
OMIM:619582 |
Complement Factor B Deficiency |
|
Peritonitis, Pneumonia |
OMIM:615561 |
Joubert Syndrome 6 |
|
Elongated superior cerebellar peduncle, Dilated fourth ventricle, Cerebellar vermis hypoplasia, T... |
OMIM:610688 |
Ciliary Dyskinesia, Primary, 19 |
|
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Recurrent sinus... |
OMIM:614935 |
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome |
|
Aspiration pneumonia |
OMIM:609528 |
Retinal Dystrophy And Microvillus Inclusion Disease |
|
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... |
OMIM:619446 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Chronic pulmonary obstruction, Recurrent skin infections, Atrophic gastritis, Recurrent sinusitis... |
OMIM:616576 |
Ciliary Dyskinesia, Primary, 30 |
|
Asthma, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Respira... |
OMIM:616037 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Pneumonia |
ORPHA:85179 |
Ciliary Dyskinesia, Primary, 13 |
|
Recurrent sinusitis, Recurrent bronchitis, Ciliary dyskinesia, Recurrent otitis media, Bronchiect... |
OMIM:613193 |
Ciliary Dyskinesia, Primary, 14 |
|
Chronic bronchitis, Otitis media, Neonatal respiratory distress, Wheezing, Cough, Chronic sinusit... |
OMIM:613807 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Elongated superior cerebellar peduncle, Dilated fourth ventricle, Abnormal brainstem morphology, ... |
ORPHA:370022 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Crazy paving pattern, Respiratory distress, Crackles, Acute infectious pneumonia, Tachypnea, Resp... |
ORPHA:264675 |
Scedosporiosis |
|
Bronchial breath sound, Sinusitis, Osteomyelitis, Pleural empyema, Endocarditis, Cough, Pleuritis... |
ORPHA:449280 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Aspiration pneumonia, Cough, Respiratory failure requiring assisted ventilation, Dyspnea, Respira... |
ORPHA:90117 |
Joubert Syndrome 31 |
|
Molar tooth sign on MRI |
OMIM:617761 |
Ciliary Dyskinesia, Primary, 38 |
|
Chronic otitis media, Cough, Chronic sinusitis, Neonatal respiratory distress, Bronchiectasis, Rh... |
OMIM:618063 |
Joubert Syndrome 22 |
|
Molar tooth sign on MRI, Agenesis of cerebellar vermis |
OMIM:615665 |
Orofaciodigital Syndrome Xv |
|
Molar tooth sign on MRI |
OMIM:617127 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Bronchiectasis, Myelodysplasia, Recurrent upper respiratory tract infections, Osteomyelitis |
OMIM:608184 |
Yellow Nail Syndrome |
|
Neoplasm, Sinusitis, Renal neoplasm, Neoplasm of the lung, Cough, Pleuritis, Pulmonary arterial h... |
ORPHA:662 |
Joubert Syndrome 18 |
|
Molar tooth sign on MRI |
OMIM:614815 |
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Recurrent skin infections, Eczema, Atopic dermatitis, Chronic mucocutaneous candidiasis, Recurren... |
OMIM:618282 |
Ciliary Dyskinesia, Primary, 22 |
|
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Neonatal respir... |
OMIM:615444 |
Allergic Bronchopulmonary Aspergillosis |
|
Asthma, Respiratory insufficiency, Cough, Emphysema, Bronchiectasis, Pulmonary arterial hypertension |
ORPHA:1164 |
Sarcoidosis, Susceptibility To, 2 |
|
Hypoxemia, Abnormal pulmonary interstitial morphology, Pulmonary arterial hypertension, Uveitis, ... |
OMIM:612387 |
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... |
OMIM:615139 |
Immunodeficiency 13 |
|
Bronchiolitis obliterans organizing pneumonia, Recurrent upper respiratory tract infections, Recu... |
OMIM:615518 |
Aspergillosis |
|
Keratitis, Asthma, Sinusitis, Osteomyelitis, Chronic pulmonary obstruction, Hypersensitivity pneu... |
ORPHA:1163 |
Cleft Velum |
|
Aspiration pneumonia, Recurrent otitis media |
ORPHA:99772 |
Coach Syndrome 2 |
|
Cerebellar vermis hypoplasia, Molar tooth sign on MRI |
OMIM:619111 |
Acute Lung Injury |
|
Respiratory distress, Abnormal pulmonary interstitial morphology, Tachypnea, Acute pancreatitis, ... |
ORPHA:178320 |
Isolated Agammaglobulinemia |
|
Sinusitis, Skin rash, Otitis media, Arthritis, Pneumonia, Inflammatory abnormality of the eye, Re... |
ORPHA:229717 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Hodgkin lymphoma, B-cell lymphoma, Lymphoproliferative disorder, Lymphoma, Recurrent sinusitis, R... |
OMIM:300853 |
Chronic Beryllium Disease |
|
Reduced FEV1/FVC ratio, Lymphocytic interstitial pneumonia, Respiratory insufficiency, Cough, Ret... |
ORPHA:133 |
Immunodeficiency, Common Variable, 2 |
|
Neoplasm, Lymphoma, Recurrent sinusitis, Recurrent bronchitis, Recurrent pneumonia, Recurrent oti... |
OMIM:240500 |
Joubert Syndrome 20 |
|
Molar tooth sign on MRI |
OMIM:614970 |
Infant Acute Respiratory Distress Syndrome |
|
Pulmonary edema, Tachypnea, Respiratory tract infection, Pneumonia, Hypoxemia, Respiratory failur... |
ORPHA:70587 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Apnea, Absent bronchoalveolar surfactant-protein C, Desquamative interstiti... |
OMIM:610921 |
Meckel Syndrome, Type 10 |
|
Dilated fourth ventricle, Molar tooth sign on MRI, Cerebellar hypoplasia, Dandy-Walker malformation |
OMIM:614175 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Bronchiolitis, Periodontitis, Pneumonia, Recurrent otitis media |
OMIM:266265 |
Joubert Syndrome 15 |
|
Molar tooth sign on MRI |
OMIM:614464 |
Joubert Syndrome 35 |
|
Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, Molar tooth sign on MRI |
OMIM:618161 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Aspiration pneumonia, Respiratory failure, Neonatal respiratory distress |
OMIM:619057 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Bronchiectasis, Facial papilloma, Recurrent lower respiratory tract infections, Recurrent otitis ... |
OMIM:619220 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Interstitial pneumonitis, Intraalveolar phospholipid accumulation, Chronic lung disease, Abnormal... |
ORPHA:217563 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Hypoxemia, Nonproductive cough, Pleural empyema, Acute infectious pneumonia... |
ORPHA:36238 |
Caspase 8 Deficiency |
|
Asthma, Eczema, Recurrent sinopulmonary infections, Pneumonia |
OMIM:607271 |
Joubert Syndrome 7 |
|
Molar tooth sign on MRI, Brainstem dysplasia, Hypoplasia of the brainstem |
OMIM:611560 |
Joubert Syndrome 28 |
|
Molar tooth sign on MRI |
OMIM:617121 |
Whim Syndrome 1 |
|
Bronchiectasis, Recurrent upper respiratory tract infections, Verrucae |
OMIM:193670 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Periodontitis, Rhinitis, Recurrent sinopulmonary infections, Recurrent skin infections, Hemangiom... |
ORPHA:486 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Lymphocytic interstitial pneumonia |
OMIM:245590 |
Hydrolethalus Syndrome 2 |
|
Molar tooth sign on MRI |
OMIM:614120 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Rheumatoid arthritis, Epididymitis, Chronic sinusitis, Pneumonia, Cholecystiti... |
ORPHA:183675 |
Immunodeficiency 65, Susceptibility To Viral Infections |
|
Bronchiectasis, Stomatitis |
OMIM:618648 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Sinusitis, Otitis media, Ciliary dyskinesia, Bronchiectasis, Immotile cilia... |
OMIM:606763 |
Adult Krabbe Disease |
|
Abnormal pons morphology, Abnormal medulla oblongata morphology, Abnormal midbrain morphology |
ORPHA:206448 |
Joubert Syndrome 3 |
|
Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, Molar tooth sign on MRI |
OMIM:608629 |
Slc35A1-Cdg |
|
Respiratory distress, Pulmonary hemorrhage, Hypoxemia, Pneumonia |
ORPHA:238459 |
Severe Combined Immunodeficiency, X-Linked |
|
Skin rash, Chronic oral candidiasis, Recurrent pneumonia, Pneumonia |
OMIM:300400 |
Immunodeficiency 77 |
|
Bronchiectasis, Cutaneous abscess, Chronic pulmonary obstruction |
OMIM:619223 |
Orofaciodigital Syndrome Vi |
|
Cerebellar vermis hypoplasia, Molar tooth sign on MRI |
OMIM:277170 |
Lymphoid Interstitial Pneumonia |
|
Lymphocytic interstitial pneumonia |
OMIM:247610 |
Immunodeficiency 57 With Autoinflammation |
|
Gastritis, Skin rash, Chronic lung disease, Inflammation of the large intestine, Perianal abscess... |
OMIM:618108 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Abnormal cerebellum morphology, Abnormal brainstem morphology |
ORPHA:255182 |
Melioidosis |
|
Prostatitis, Osteoarthritis, Acute infectious pneumonia, Hepatitis, Respiratory tract infection, ... |
ORPHA:31202 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Asthma, Eosinophilic infiltration of the esophagus, Eczema, Atopic dermatitis, Recurrent sinusiti... |
OMIM:243700 |
Adult Acute Respiratory Distress Syndrome |
|
Abnormal blood gas level, Pulmonary edema, Pancreatitis, Pneumonia, Hypoxemia, Dyspnea, Respirato... |
ORPHA:70578 |
Immunodeficiency 14A, Autosomal Dominant |
|
Bronchiectasis, Recurrent sinopulmonary infections, Recurrent respiratory infections |
OMIM:615513 |
Tularemia |
|
Respiratory distress, Conjunctivitis, Skin rash, Otitis media, Cough, Pleural effusion, Pneumonia... |
ORPHA:3392 |
Neonatal Alloimmune Neutropenia |
|
Pneumonia |
ORPHA:464370 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, Recurrent respiratory infections, Pneumonia, Respiratory failure requiring ... |
ORPHA:596 |
Al-Gazali-Bakalinova Syndrome |
|
Molar tooth sign on MRI |
OMIM:607131 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Asthma, Thyroiditis, Colitis, Conjunctivitis, Lymphoproliferative disorder, Atrophic gastritis, C... |
OMIM:614700 |
Coach Syndrome 3 |
|
Molar tooth sign on MRI |
OMIM:619113 |
Immunodeficiency 56 |
|
Chronic hepatitis due to cryptosporidium infection, Recurrent sinusitis, Recurrent pneumonia, Cho... |
OMIM:615207 |
Autosomal Agammaglobulinemia |
|
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Chronic otitis media, Arthritis, ... |
ORPHA:33110 |
Ciliary Dyskinesia, Primary, 1 |
|
Chronic otitis media, Chronic rhinitis, Recurrent bronchitis, Ciliary dyskinesia, Chronic sinusit... |
OMIM:244400 |
Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Recurrent upper respiratory tract infections, Facial capillary hemangioma, Pneumonia |
OMIM:300209 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Chronic pulmonary obstruction, Crackles, Cough, Pneumothorax, Pleural effus... |
ORPHA:411703 |
Pontocerebellar Hypoplasia Type 10 |
|
Abnormal brainstem morphology |
ORPHA:411493 |
Joubert Syndrome 9 |
|
Molar tooth sign on MRI |
OMIM:612285 |
Common Variable Immunodeficiency |
|
Gastrointestinal stroma tumor, Otitis media, Chronic otitis media, Lymphoma, Recurrent bronchitis... |
ORPHA:1572 |
Ciliary Dyskinesia, Primary, 37 |
|
Bronchiectasis, Chronic rhinitis, Rhinorrhea, Wheezing |
OMIM:617577 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Enterocolitis, Interstitial pneumonitis, Bronchiolitis, Ulcerative colitis, Recurrent sinopulmona... |
OMIM:614878 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Poorly formed metencephalon, Cerebellar dysplasia, Absent mesencephalon |
OMIM:601374 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Rhombencephalosynapsis, Dilated fourth ventricle, Cerebellar hypoplasia, Cerebellar vermis hypopl... |
OMIM:619306 |
Slc35A2-Cdg |
|
Dandy-Walker malformation, Cerebellar atrophy, Abnormal midbrain morphology, Atrophy/Degeneration... |
ORPHA:356961 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Chronic oral candidiasis, Otitis media, Hepatitis, Recurrent pneumonia, Pneumonia, Erythroderma |
ORPHA:169160 |
Acute Interstitial Pneumonia |
|
Interlobular septal thickening, Subpleural honeycombing, Nodular pattern on pulmonary HRCT, Nonpr... |
ORPHA:79126 |
Avian Influenza |
|
Respiratory distress, Conjunctivitis, Hypoxemia, Nonproductive cough, Myelitis, Tachypnea, Cough,... |
ORPHA:454836 |
Diarrhea 12, With Microvillus Atrophy |
|
Bronchiectasis, Respiratory tract infection |
OMIM:619445 |
Nephronophthisis-Like Nephropathy 2 |
|
Bronchiectasis, Recurrent respiratory infections, Cough |
OMIM:619468 |
Fusariosis |
|
Keratitis, Sinusitis, Osteomyelitis, Hypersensitivity pneumonitis, Maculopapular exanthema, Perit... |
ORPHA:228119 |
Orofaciodigital Syndrome Viii |
|
Recurrent aspiration pneumonia, Hamartoma |
OMIM:300484 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Abnormal cerebellum morphology, Hypoplasia of the pons, Dilated fourth ventricle, Abnormal brains... |
ORPHA:370959 |
Meckel Syndrome, Type 4 |
|
Dandy-Walker malformation, Molar tooth sign on MRI, Agenesis of cerebellar vermis |
OMIM:611134 |
Joubert Syndrome 37 |
|
Cerebellar vermis hypoplasia, Molar tooth sign on MRI |
OMIM:619185 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Hypoxemia, Aspiration pneumonia, Wheezing, Pneumothorax, Neonatal asphyxia,... |
ORPHA:70588 |
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Recurrent aspiration pneumonia |
OMIM:619971 |
Immunodeficiency 43 |
|
Bronchiectasis, Recurrent respiratory infections |
OMIM:241600 |
Immunodeficiency 58 |
|
Asthma, Colitis, Chronic pulmonary obstruction, Chronic bronchitis, Recurrent upper respiratory t... |
OMIM:618131 |
Immunodeficiency 27A |
|
Salmonella osteomyelitis, Abnormal bronchus physiology, Increased inflammatory response, Pneumonia |
OMIM:209950 |
Lennox-Gastaut Syndrome |
|
Abnormal brainstem morphology |
ORPHA:2382 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Asthma, Recurrent skin infections, Recurrent upper respiratory tract infections, Atopic dermatiti... |
OMIM:619752 |
Whim Syndrome |
|
Papilloma, Sinusitis, Cutaneous melanoma, Otitis media, Recurrent upper respiratory tract infecti... |
ORPHA:51636 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Dandy-Walker malformation, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Abnormal ... |
ORPHA:163961 |
Lymphoid Interstitial Pneumonia |
|
Pulmonary venous hypertension, Subpleural interstitial thickening, Multiple pulmonary cysts, Skin... |
ORPHA:79128 |
Joubert Syndrome 2 |
|
Elongated superior cerebellar peduncle, Dysgenesis of the cerebellar vermis, Agenesis of cerebell... |
OMIM:608091 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent upper and lower respiratory tract infections, Colitis, Recurrent bacterial skin infecti... |
ORPHA:911 |
Congenital Tracheomalacia |
|
Apnea, Decreased peak expiratory flow, Pulmonary hypoplasia, Pneumonia, Tracheomalacia, Wheezing,... |
ORPHA:95430 |
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
Cerebellar vermis hypoplasia, Abnormal pons morphology, Cerebellar cyst, Abnormal brainstem morph... |
ORPHA:370997 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Pneumonia |
OMIM:608033 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Recurrent aspiration pneumonia, Respiratory failure, Respiratory insufficiency due to muscle weak... |
ORPHA:2590 |
Bronchogenic Cyst |
|
Abnormal pleura morphology, Cough, Pneumonia, Dyspnea, Bronchogenic cyst, Pulmonary cyst |
ORPHA:2357 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Salmonella osteomyelitis, Lymphadenitis, Pneumonia |
ORPHA:319552 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Chronic bronchitis, Sinusitis, Pneumonia, Bronchiectasis |
OMIM:242860 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Prostatitis, Pyoderma, Enteroviral hepatitis, Epididymitis, Infectious encephalitis, P... |
OMIM:307200 |
Timothy Syndrome |
|
Bronchitis, Pneumonia |
OMIM:601005 |
Spinocerebellar Ataxia Type 1 |
|
Loss of Purkinje cells in the cerebellar vermis, Atrophy/Degeneration affecting the brainstem, Ce... |
ORPHA:98755 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Eczematoid dermatitis, Recurrent bronchopulmonary infections, Pyoderma, Recurrent pneumonia, Emph... |
OMIM:242700 |
Joubert Syndrome 1 |
|
Elongated superior cerebellar peduncle, Dysgenesis of the cerebellar vermis, Agenesis of cerebell... |
OMIM:213300 |
Joubert Syndrome 39 |
|
Cerebellar vermis hypoplasia, Molar tooth sign on MRI |
OMIM:619562 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Chronic pulmonary obstruction, Chronic bronchitis, Lymphadenitis, Recurrent lower respiratory tra... |
OMIM:618986 |
Arima Syndrome |
|
Aplasia/Hypoplasia of the cerebellar vermis, Dilated fourth ventricle, Agenesis of cerebellar ver... |
OMIM:243910 |
Immunodeficiency 60 And Autoimmunity |
|
Crohn's disease, Colitis, Ulcerative colitis, Bronchiectasis, Recurrent sinopulmonary infections,... |
OMIM:618394 |
Selective Igm Deficiency |
|
Keratitis, Multiple myeloma, Stomach cancer, Otitis media, Rheumatoid arthritis, Lymphadenitis, N... |
ORPHA:331235 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Midline brainstem cleft, Hypoplasia of the pons |
OMIM:617542 |
Primary Ciliary Dyskinesia |
|
Airway obstruction, Anomalous pulmonary venous return, Chronic otitis media, Neonatal respiratory... |
ORPHA:244 |
Bronchial Neuroendocrine Tumor |
|
Asthma, Nonproductive cough, Bronchospasm, Abnormal pulmonary interstitial morphology, Wheezing, ... |
ORPHA:97287 |
Cerebellar-Facial-Dental Syndrome |
|
Hypoplasia of the pons, Cerebellar hypoplasia, Inferior cerebellar vermis hypoplasia, Abnormal mi... |
ORPHA:444072 |
Coach Syndrome 1 |
|
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Aplasia/Hypoplasia of the cerebellar vermis |
OMIM:216360 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Hodgkin lymphoma, Desquamative interstitial pneumonitis, Recurrent upper respiratory tract infect... |
OMIM:615952 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Aplasia/Hypoplasia of the cerebellum, Abnormal brainstem morphology |
ORPHA:79279 |
Polymicrogyria Due To Tubb2B Mutation |
|
Cerebellar atrophy, Hypoplasia of the pons, Abnormal brainstem morphology |
ORPHA:300573 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Peritonitis... |
ORPHA:36234 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent bacterial skin infections, Chronic oral candidiasis, Recurrent cutaneous fungal infecti... |
ORPHA:276 |
Joubert Syndrome 38 |
|
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Inferior cerebellar vermis hypoplasia |
OMIM:619476 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Crohn's disease, Recurrent upper respiratory tract infections, Eczema, Atrophic gastritis, Arthri... |
OMIM:616100 |
Bloom Syndrome |
|
Cheilitis, Stomach cancer, Otitis media, Uveitis, Pneumonia, Rhinitis, Respiratory failure, Neopl... |
ORPHA:125 |
Nocardiosis |
|
Keratitis, Respiratory distress, Lymphadenitis, Pneumonia, Pericarditis, Respiratory failure, Scl... |
ORPHA:31204 |
Oculopharyngodistal Myopathy |
|
Respiratory insufficiency due to muscle weakness, Recurrent aspiration pneumonia, Restrictive ven... |
ORPHA:98897 |
Good Syndrome |
|
Thymoma, Sinusitis, Recurrent skin infections, Cough, Bronchiectasis, Dyspnea, Recurrent respirat... |
ORPHA:169105 |
Immunodeficiency 92 |
|
Osteomyelitis, Sclerosing cholangitis, Esophagitis, Cholangitis, Pneumonia |
OMIM:619652 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Pustule, Skin rash, Interstitial pneumonitis, Myocarditis, Cough, Hepatitis, Tubulointerstitial n... |
ORPHA:139402 |
Riddle Syndrome |
|
Otitis media, Abnormal pulmonary interstitial morphology, Arthritis, Recurrent sinusitis, Bronchi... |
ORPHA:420741 |
Joubert Syndrome With Oculorenal Defect |
|
Cerebellar vermis hypoplasia, Molar tooth sign on MRI |
ORPHA:2318 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Restrictive ventilatory defect, Pneumonia |
OMIM:253700 |
Joubert Syndrome With Renal Defect |
|
Cerebellar vermis hypoplasia, Molar tooth sign on MRI |
ORPHA:220497 |
Amoebiasis Due To Free-Living Amoebae |
|
Abnormal pons morphology, Abnormal cerebellum morphology, Abnormal brainstem MRI signal intensity... |
ORPHA:68 |
Omenn Syndrome |
|
Erythroderma, Thyroiditis, Lymphoma, Pneumonia |
ORPHA:39041 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Elongated superior cerebellar peduncle, Abnormal cerebellum morphology, Dysgenesis of the cerebel... |
ORPHA:397715 |
Graft Versus Host Disease |
|
Inflammatory abnormality of the skin, Maculopapular exanthema, Chronic hepatitis, Myositis, Arthr... |
ORPHA:39812 |
Purine Nucleoside Phosphorylase Deficiency |
|
Sinusitis, Otitis media, Recurrent upper respiratory tract infections, Lymphoma, Recurrent lower ... |
OMIM:613179 |
Mucoepithelial Dysplasia, Hereditary |
|
Fibrocystic lung disease, Keratoconjunctivitis, Chronic mucocutaneous candidiasis, Recurrent pneu... |
OMIM:158310 |
Microsporidiosis |
|
Keratitis, Sinusitis, Prostatitis, Pancreatitis, Osteomyelitis, Nephritis, Lymphadenitis, Periton... |
ORPHA:2552 |
Japanese Encephalitis |
|
Abnormal substantia nigra morphology, Abnormal pons morphology, Abnormal midbrain morphology |
ORPHA:79139 |
Joubert Syndrome 8 |
|
Molar tooth sign on MRI |
OMIM:612291 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Thyroiditis, Eczematoid dermatitis, Gastritis, Colitis, Osteomyelitis, Infl... |
ORPHA:37042 |
Joubert Syndrome With Ocular Defect |
|
Cerebellar vermis hypoplasia, Molar tooth sign on MRI |
ORPHA:220493 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Keratitis, Diffuse leiomyomatosis, Esophageal neoplasm, Uterine neoplasm, Aspiration pneumonia, C... |
ORPHA:1018 |
Roifman-Chitayat Syndrome |
|
Pneumonia, Arthritis |
OMIM:613328 |
Gaucher Disease, Type Ii |
|
Recurrent aspiration pneumonia, Apnea |
OMIM:230900 |
Orofaciodigital Syndrome Xvi |
|
Molar tooth sign on MRI |
OMIM:617563 |
Cryptococcosis |
|
Respiratory distress, Neoplasm, Prostatitis, Osteomyelitis, Nodular pattern on pulmonary HRCT, Pe... |
ORPHA:1546 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Neoplasm, Chronic otitis media, Pneumonia |
ORPHA:169090 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Aspiration pneumonia, Apnea, Episodic tachypnea |
ORPHA:79264 |
Q Fever |
|
Respiratory distress, Osteomyelitis, Maculopapular exanthema, Endocarditis, Abnormal pulmonary in... |
ORPHA:781 |
Omenn Syndrome |
|
Erythroderma, Pneumonia |
OMIM:603554 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Interstitial pneumonitis |
ORPHA:231154 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Abnormal respiratory system physiology, Recurrent respiratory infections, Respiratory failure, Pn... |
ORPHA:98905 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Pneum... |
OMIM:600802 |
Sporadic Creutzfeldt-Jakob Disease |
|
Recurrent aspiration pneumonia, Respiratory failure requiring assisted ventilation |
ORPHA:204 |
Joubert Syndrome 5 |
|
Agenesis of cerebellar vermis, Thickened superior cerebellar peduncle, Molar tooth sign on MRI, A... |
OMIM:610188 |
Hereditary Bullous Dystrophy, Macular Type |
|
Pneumonia |
ORPHA:1867 |
Agammaglobulinemia, X-Linked |
|
Prostatitis, Bronchiolitis obliterans, Pyoderma, Enteroviral hepatitis, Hepatocellular carcinoma,... |
OMIM:300755 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent sinusitis, Recurrent pneumonia, Recurrent otitis media, Bronchiectasis, Conjunctivitis,... |
OMIM:601495 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Asthma, B-cell lymphoma, Inflammatory abnormality of the skin, Sinusitis, Skin rash, Chronic muco... |
OMIM:102700 |
Pulmonary Alveolar Microlithiasis |
|
Interlobular septal thickening, Oxygen desaturation on exertion, Subpleural interstitial thickeni... |
ORPHA:60025 |
Thymic Aplasia |
|
Recurrent streptococcus pneumoniae infections, Eczematoid dermatitis, Chronic oral candidiasis, S... |
ORPHA:83471 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Aspiration pneumonia, Cough |
ORPHA:216866 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Molar tooth sign on MRI, Cerebellar hypoplasia, Dandy-Walker malformation |
OMIM:616300 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Apnea, Aspiration pneumonia, Recurrent pneumonia, Hypoventilation |
ORPHA:314655 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Aspiration pneumonia, Pancreatitis, Central sleep apnea |
ORPHA:431361 |
Cerebellofaciodental Syndrome |
|
Hypoplasia of the pons, Cerebellar hypoplasia, Hypoplasia of the midbrain |
OMIM:616202 |
Duplication Of The Pituitary Gland |
|
Abnormal midbrain morphology |
ORPHA:314621 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Cerebellar vermis hypoplasia, Molar tooth sign on MRI |
OMIM:616546 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Sinusitis, Otitis media, Recurrent upper respiratory tract infections, Eczema, Inflammation of th... |
OMIM:600903 |
47,Xyy Syndrome |
|
Cerebellar dysplasia, Dysgenesis of the cerebellar vermis, Abnormal brainstem morphology |
ORPHA:8 |
Brucellosis |
|
Osteomyelitis, Orchitis, Arteritis, Endocarditis, Glomerulonephritis, Myocarditis, Arthritis, Ant... |
ORPHA:1304 |
Geleophysic Dysplasia 3 |
|
Dyspnea, Respiratory failure, Sleep apnea, Pneumonia |
OMIM:617809 |
Tenorio Syndrome |
|
Stomatitis, Apnea, Keratoconjunctivitis sicca, Pneumonia |
OMIM:616260 |
Leukocyte Adhesion Deficiency |
|
Sinusitis, Osteomyelitis, Lymphocytic interstitial pneumonia, Chronic oral candidiasis, Otitis me... |
ORPHA:2968 |
Zygomycosis |
|
Pancreatitis, Gastritis, Acute infectious pneumonia, Myocarditis, Rhinorrhea, Pericarditis, Colit... |
ORPHA:73263 |
Orofaciodigital Syndrome Ix |
|
Recurrent aspiration pneumonia, Hamartoma |
OMIM:258865 |
Familial Acute Necrotizing Encephalopathy |
|
Abnormal brainstem morphology, Abnormal brainstem MRI signal intensity |
ORPHA:88619 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Pulmonary embolism, Pneumonia |
OMIM:226300 |
Orofaciodigital Syndrome Type 6 |
|
Cerebellar vermis hypoplasia, Molar tooth sign on MRI |
ORPHA:2754 |
Spondyloenchondrodysplasia |
|
Enchondroma, Skin rash, Juvenile rheumatoid arthritis, Arthritis, Hepatitis, Pneumonia |
ORPHA:1855 |
Mercury Poisoning |
|
Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure |
ORPHA:330021 |
Listeriosis |
|
Respiratory distress, Osteomyelitis, Conjunctivitis, Pustule, Arteritis, Peritonitis, Endocarditi... |
ORPHA:533 |
Alpha-Mannosidosis, Adult Form |
|
Pneumonia |
ORPHA:309288 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Inflammatory abnormality of the skin, Episodic tachypnea, Tachypnea, Pneumonia |
ORPHA:26793 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Recurrent otitis media, Juvenile rheumatoid arthritis, Rheumatoid arthritis, Recurrent sinusitis,... |
OMIM:607944 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Recurrent upper respiratory tract infections, Pneumonia, Otitis media |
OMIM:602450 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Molar tooth sign on MRI, Dysgenesis of the cerebellar vermis |
OMIM:619479 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Aplasia/Hypoplasia of the cerebellum, Abnormal brainstem morphology |
ORPHA:2720 |
Coccidioidomycosis |
|
Respiratory distress, Osteomyelitis, Pancreatitis, Folliculitis, Skin rash, Pleural empyema, Peri... |
ORPHA:228123 |
Infantile Neuroaxonal Dystrophy |
|
Aspiration pneumonia, Apneic episodes in infancy |
ORPHA:35069 |
Proximal Spinal Muscular Atrophy |
|
Recurrent infections due to aspiration, Recurrent aspiration pneumonia, Restrictive ventilatory d... |
ORPHA:70 |
Familial Cerebral Saccular Aneurysm |
|
Abnormal brainstem morphology |
ORPHA:231160 |
Mohr-Tranebjaerg Syndrome |
|
Aspiration pneumonia |
ORPHA:52368 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Squamous cell carcinoma of the skin, Interstitial pneumonitis, Pulmonary fibrosis, Myelodysplasia |
OMIM:127550 |
Gangliocytoma |
|
Abnormal cerebellum morphology, Abnormal brainstem morphology |
ORPHA:251937 |
Shigellosis |
|
Acute colitis, Peritonitis, Myocarditis, Arthritis, Uveitis, Pneumonia, Ulcerative colitis, Conju... |
ORPHA:810 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Breast carcinoma, Endometrial carcinoma, Pneumonia |
ORPHA:90790 |
Atrial Septal Defect, Coronary Sinus Type |
|
Anomalous pulmonary venous return, Pneumonia, Exertional dyspnea, Dyspnea, Pulmonary arterial hyp... |
ORPHA:99104 |
Immunodeficiency 82 With Systemic Inflammation |
|
Crohn's disease, B-cell lymphoma, Colitis, Gastritis, Osteomyelitis, Skin rash, Recurrent skin in... |
OMIM:619381 |
X-Linked Dystonia-Parkinsonism |
|
Aspiration pneumonia |
ORPHA:53351 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Pulmonary hemorrhage, Cough, Recurrent aspiration pneumonia, Chronic mucocutaneous candidiasis, P... |
ORPHA:79124 |
Arnold-Chiari Malformation Type Ii |
|
Apnea, Pneumonia, Inspiratory stridor |
ORPHA:1136 |
Gm1 Gangliosidosis |
|
Aspiration pneumonia, Infectious encephalitis, Recurrent respiratory infections |
ORPHA:354 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Skin rash, Pneumonia |
ORPHA:247691 |
Postinfectious Vasculitis |
|
Bacterial endocarditis, Recurrent streptococcus pneumoniae infections, Inflammatory abnormality o... |
ORPHA:48435 |
Chops Syndrome |
|
Sleep apnea, Anomalous pulmonary venous return, Tracheomalacia, Aspiration pneumonia, Chronic lun... |
OMIM:616368 |
Cystic Fibrosis |
|
Reduced forced expiratory volume in one second, Asthma, Pancreatitis, Recurrent bronchopulmonary ... |
OMIM:219700 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Neonatal respiratory distress, Recurrent aspiration pneumonia |
ORPHA:79243 |
Insulin-Resistance Syndrome Type B |
|
Hodgkin lymphoma, Multiple myeloma, Nephritis, Skin rash, Osteoarthritis, Lymphoma, Pneumonia |
ORPHA:2298 |
Shwachman-Diamond Syndrome |
|
Sinusitis, Osteomyelitis, Skin rash, Eczema, Myelodysplasia, Pneumonia, Leukemia, Acute myeloid l... |
ORPHA:811 |
Hennekam-Beemer Syndrome |
|
Respiratory insufficiency, Pneumonia |
ORPHA:2135 |
Atrial Septal Defect, Ostium Secundum Type |
|
Airway obstruction, Orthopnea, Breathing dysregulation, Pneumonia, Dyspnea, Exertional dyspnea, P... |
ORPHA:99103 |
Meckel Syndrome, Type 1 |
|
Dilated fourth ventricle, Cerebellar hypoplasia, Chiari malformation, Molar tooth sign on MRI, Da... |
OMIM:249000 |
Infection-Related Hemolytic Uremic Syndrome |
|
Acute colitis, Pancreatitis, Pleural empyema, Myocarditis, Pleuritis, Respiratory tract infection... |
ORPHA:544482 |
Igg4-Related Kidney Disease |
|
Prostatitis, Pancreatitis, Inflammatory abnormality of the skin, Arteritis, Interstitial pneumoni... |
ORPHA:449395 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Pulmonary edema, Epistaxis, Acute tubulointerstitial nephritis, Cough, Tubu... |
ORPHA:340 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Aspiration pneumonia |
OMIM:619167 |
Bickerstaff Brainstem Encephalitis |
|
Hypercapnia, Respiratory failure requiring assisted ventilation, Respiratory tract infection, Pne... |
ORPHA:79138 |
Lissencephaly Due To Lis1 Mutation |
|
Aspiration pneumonia |
ORPHA:95232 |
Aicardi-Goutieres Syndrome 7 |
|
Skin rash, Atopic dermatitis, Chilblains, Arthritis, Recurrent lower respiratory tract infections... |
OMIM:615846 |
Wilson Disease |
|
Face of the giant panda sign |
OMIM:277900 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Recurrent aspiration pneumonia, Recurrent pneumonia |
OMIM:300472 |
Mirage Syndrome |
|
Aspiration pneumonia, Myelodysplasia |
OMIM:617053 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Pyoderma, Recurrent skin infections, Stridor, Squamous cell carcinoma, Pneu... |
ORPHA:79404 |
Mucopolysaccharidosis, Type Vi |
|
Sleep apnea, Recurrent upper respiratory tract infections, Restrictive ventilatory defect, Pneumo... |
OMIM:253200 |
Cholera |
|
Aspiration pneumonia, Hyperventilation, Tachypnea |
ORPHA:173 |
Fanconi Anemia, Complementation Group F |
|
Pneumonia |
OMIM:603467 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Abnormal midbrain morphology |
ORPHA:293987 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Recurrent aspiration pneumonia, Hepatic hemangioma |
ORPHA:73230 |
Orofaciodigital Syndrome Type 14 |
|
Dilated fourth ventricle, Molar tooth sign on MRI, Dandy-Walker malformation |
ORPHA:434179 |
Mucopolysaccharidosis Type 3 |
|
Otitis media, Aspiration pneumonia, Chronic otitis media, Upper airway obstruction, Respiratory t... |
ORPHA:581 |
Marshall-Smith Syndrome |
|
Apnea, Airway obstruction, Aspiration pneumonia, Recurrent upper respiratory tract infections, Ch... |
OMIM:602535 |
Congenital Fiber-Type Disproportion Myopathy |
|
Respiratory insufficiency due to muscle weakness, Aspiration pneumonia, Weakness of muscles of re... |
ORPHA:2020 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Apnea, Hypopnea, Aspiration pneumonia, Restrictive ventilatory defect, Hypoventilation |
OMIM:619482 |
Leigh Syndrome With Cardiomyopathy |
|
Abnormal brainstem morphology |
ORPHA:70474 |
Orofaciodigital Syndrome Xiv |
|
Molar tooth sign on MRI, Cerebellar hypoplasia, Dandy-Walker malformation |
OMIM:615948 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Diffuse cerebellar atrophy, Abnormal brainstem morphology |
ORPHA:93256 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
Chronic oral candidiasis, Arthritis, Recurrent aspiration pneumonia, Neonatal respiratory distres... |
ORPHA:221139 |
Cornelia De Lange Syndrome 1 |
|
Pneumonia, Otitis media |
OMIM:122470 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Keratitis, Respiratory distress, Inflammatory abnormality of the skin, Skin rash, Chronic lung di... |
ORPHA:95455 |
Alpha-Mannosidosis, Infantile Form |
|
Pneumonia, Otitis media |
ORPHA:309282 |
Coffin-Siris Syndrome |
|
Aspiration pneumonia, Recurrent upper respiratory tract infections, Hepatoblastoma, Papillary thy... |
ORPHA:1465 |
Gm1 Gangliosidosis Type 1 |
|
Aspiration pneumonia |
ORPHA:79255 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Aspiration pneumonia, Seborrheic dermatitis |
OMIM:301072 |
Plague |
|
Respiratory distress, Enterocolitis, Skin rash, Lymphadenitis, Endocarditis, Inflammation of the ... |
ORPHA:707 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Asthma, Neoplasm, Otitis media, Spinal cord tumor, Pilomatrixoma, Pneumonia, Meningioma, Recurren... |
ORPHA:353281 |
Tay-Sachs Disease |
|
Aspiration pneumonia |
ORPHA:845 |
Degcags Syndrome |
|
Asthma, Rhinitis, Tracheomalacia, Chronic lung disease, Pneumonia, Pulmonary arterial hypertension |
OMIM:619488 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Aspiration pneumonia |
ORPHA:99027 |
Neuroleptic Malignant Syndrome |
|
Aspiration pneumonia, Pulmonary embolism |
ORPHA:94093 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Asthma, Sleep apnea, Tracheomalacia, Aspiration pneumonia, Chronic lung disease, Pulmonary arteri... |
ORPHA:444077 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Status asthmaticus, Pulmonary edema, Peritonitis, Eczema, Cholesteatoma, Cough... |
OMIM:619991 |
Miller-Dieker Lissencephaly Syndrome |
|
Recurrent aspiration pneumonia |
OMIM:247200 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Recurrent aspiration pneumonia, Peripheral pulmonary artery stenosis, Blepharitis, Pulmonary arte... |
ORPHA:280633 |
Arboleda-Tham Syndrome |
|
Respiratory distress, Chronic otitis media, Recurrent aspiration pneumonia, Recurrent otitis medi... |
OMIM:616268 |
Opitz Gbbb Syndrome |
|
Recurrent aspiration pneumonia, Stridor, Tracheomalacia |
ORPHA:2745 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Asthma, Otitis media, Pilomatrixoma, Pneumonia, Aspiration, Meningioma, Recurrent respiratory inf... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Asthma, Otitis media, Pilomatrixoma, Pneumonia, Aspiration, Meningioma, Recurrent respiratory inf... |
ORPHA:353277 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Abnormal brainstem morphology |
ORPHA:464311 |
Niemann-Pick Disease Type C |
|
Aspiration pneumonia, Abnormal lung morphology, Respiratory insufficiency, Respiratory failure |
ORPHA:646 |
Wiedemann-Rautenstrauch Syndrome |
|
Recurrent respiratory infections, Pneumonia |
OMIM:264090 |
Semilobar Holoprosencephaly |
|
Aspiration pneumonia, Abnormal pattern of respiration, Chronic lung disease, Central apnea |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Aspiration pneumonia, Abnormal pattern of respiration, Chronic lung disease, Central apnea |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Aspiration pneumonia, Abnormal pattern of respiration, Chronic lung disease, Central apnea |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Aspiration pneumonia, Abnormal pattern of respiration, Chronic lung disease, Central apnea |
ORPHA:93924 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Apnea, Central sleep apnea, Aspiration pneumonia, Breathing dysregulation, Hypoventilation, Obstr... |
ORPHA:438213 |
Fontaine Progeroid Syndrome |
|
Respiratory insufficiency, Recurrent aspiration pneumonia, Pulmonary hypoplasia, Pneumothorax, Pu... |
OMIM:612289 |
Doors Syndrome |
|
Aspiration pneumonia, Capillary hemangioma, Respiratory distress |
ORPHA:79500 |
Lafora Disease |
|
Recurrent aspiration pneumonia |
ORPHA:501 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Recurrent aspiration pneumonia, Osteomyelitis, Fasciitis, Septic arthritis |
ORPHA:642 |
Kabuki Syndrome 1 |
|
Recurrent aspiration pneumonia, Recurrent otitis media |
OMIM:147920 |
Yunis-Varon Syndrome |
|
Aspiration pneumonia, Pulmonary arterial hypertension |
OMIM:216340 |
Pmm2-Cdg |
|
Aspiration pneumonia, Pericarditis, Respiratory distress |
ORPHA:79318 |
Pulmonary Hypertension, Primary, 2 |
|
Pulmonary arterial hypertension, Increased pulmonary vascular resistance |
OMIM:615342 |