Pulmonary Blastoma |
|
Cough, Fever, Pulmonary infiltrates, Recurrent pneumonia, Dyspnea, Pleuropulmonary blastoma |
ORPHA:64741 |
Bronchopulmonary Dysplasia |
|
Wheezing, Central apnea, Hyperoxemia, Abnormal respiratory system physiology, Tracheobronchomalac... |
ORPHA:70589 |
Recurrent Respiratory Papillomatosis |
|
Wheezing, Dysphagia, Stridor, Respiratory insufficiency, Tachypnea, Choking episodes, Fever, Uppe... |
ORPHA:60032 |
Asbestos Intoxication |
|
Wheezing, Lung adenocarcinoma, Pleural thickening, Exertional dyspnea, Restrictive ventilatory de... |
ORPHA:2302 |
Cholesterol Pneumonia |
|
Death in infancy, Pneumonia, Tachypnea, Cough, Cyanosis |
OMIM:215030 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Desquamative interstitial pneumonitis, Neonatal respiratory distress, Death in infancy, Nonspecif... |
OMIM:610921 |
Acute Interstitial Pneumonia |
|
Reticulonodular pattern on pulmonary HRCT, Hypoxemia, Crackles, Bronchiectasis, Tachypnea, Interl... |
ORPHA:79126 |
Mucus Inspissation Of Respiratory Tract |
|
Chronic pulmonary obstruction, Bronchiectasis, Chronic sinusitis, Recurrent respiratory infection... |
OMIM:253240 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Desquamative interstitial pneumonitis, Neonatal respiratory distress, Death in infancy, Tachypnea... |
OMIM:265120 |
Respiratory Distress Syndrome In Premature Infants |
|
Neonatal respiratory distress, Tachypnea, Respiratory distress, Pulmonary edema, Dyspnea, Atelect... |
OMIM:267450 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Wheezing, Hypoxemia, Crackles, Abnormal pulmonary thoracic imaging finding, Hypersensitivity pneu... |
ORPHA:2902 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Bronchiectasis, Respiratory distress, Abnormal mucociliary clearance, Recurrent respiratory infec... |
OMIM:619466 |
Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Chronic sinusitis, Recurrent p... |
OMIM:615294 |
Ciliary Dyskinesia, Primary, 29 |
|
Ciliary dyskinesia, Bronchiectasis, Recurrent respiratory infections, Decreased nasal nitric oxid... |
OMIM:615872 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Wheezing, Honeycomb lung, Hypoxemia, Chronic bronchitis, Chronic pulmonary obstruction, Bronchiec... |
ORPHA:79127 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Nodular pattern on pulmonary HRCT, Dyspnea, Ground-glass opacification, Cough |
ORPHA:60026 |
Familial Nasal Acilia |
|
Abnormal respiratory motile cilium morphology, Bronchiectasis, Chronic rhinitis, Chronic sinusiti... |
ORPHA:922 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Desquamative interstitial pneumonitis, Tachypnea, Cough, Respiratory distress, Recurrent upper re... |
OMIM:263000 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Respiratory insufficiency, Abnormal pattern of respiration, Cough, Fever, Pulmonary infiltrates, ... |
ORPHA:724 |
Infant Acute Respiratory Distress Syndrome |
|
Hypoxemia, Pneumonia, Tachypnea, Respiratory tract infection, Pulmonary edema, Cyanosis, Respirat... |
ORPHA:70587 |
Ciliary Dyskinesia, Primary, 33 |
|
Ciliary dyskinesia, Recurrent bronchitis, Bronchiectasis, Chronic rhinitis, Cough, Recurrent lowe... |
OMIM:616726 |
Ciliary Dyskinesia, Primary, 20 |
|
Ciliary dyskinesia, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance,... |
OMIM:615067 |
Chronic Pneumonitis Of Infancy |
|
Hypoxemia, Tachypnea, Ground-glass opacification, Cough, Fever, Respiratory distress, Cyanosis, I... |
ORPHA:91359 |
Tracheobronchopathia Osteochondroplastica |
|
Wheezing, Productive cough, Stridor, Respiratory insufficiency, Pneumonia, Fever, Upper airway ob... |
ORPHA:3348 |
Cryptogenic Organizing Pneumonia |
|
Wheezing, Hypoxemia, Bronchial breath sound, Crackles, Pneumothorax, Ground-glass opacification, ... |
ORPHA:1302 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Wheezing, Hypoxemia, Neonatal respiratory distress, Crackles, Elevated bronchoalveolar lavage flu... |
OMIM:610978 |
Meconium Aspiration Syndrome |
|
Wheezing, Hypoxemia, Atelectasis, Transient pulmonary infiltrates, Pneumothorax, Pulmonary arteri... |
ORPHA:70588 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Desquamative interstitial pneumonitis, Nonspecific interstitial pneumonia, Spontaneous pneumothor... |
OMIM:610913 |
Perching Syndrome |
|
Respiratory distress, Dysphagia, Fever |
OMIM:617055 |
Laryngotracheoesophageal Cleft |
|
Neonatal respiratory distress, Stridor, Choking episodes, Cough, Impaired oropharyngeal swallow r... |
ORPHA:2004 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness |
|
Chronic sinusitis, Atelectasis, Recurrent bronchitis |
OMIM:300455 |
Bronchogenic Cyst |
|
Dysphagia, Pneumonia, Bronchogenic cyst, Cough, Fever, Abnormal pleura morphology, Pulmonary cyst... |
ORPHA:2357 |
Severe Acute Respiratory Syndrome |
|
Hypoxemia, Cough, Fever, Respiratory distress, Acute infectious pneumonia, Chronic lung disease, ... |
ORPHA:140896 |
Rowley-Rosenberg Syndrome |
|
Pulmonary arterial hypertension, Recurrent pneumonia, Atelectasis, Reduced subcutaneous adipose t... |
OMIM:268500 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Bronchiolitis obliterans, Hypoxemia, Pneumonia, Bronchiectasis, Reduced forced expiratory volume ... |
ORPHA:1303 |
Pleural Mesothelioma |
|
Dysphagia, Abnormal respiratory system physiology, Cough, Respiratory distress, Abnormal pleura m... |
ORPHA:50251 |
Cyanosis And Hepatic Disease |
|
Cyanosis, Dyspnea |
OMIM:219400 |
Idiopathic Bronchiectasis |
|
Wheezing, Productive cough, Abnormal respiratory system physiology, Crackles, Bronchiectasis, Red... |
ORPHA:60033 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Hypoxemia, Lung abscess, Pneumonia, Cough, Cyanosis, Decreased DLCO, Restrictive ventilatory defe... |
OMIM:610910 |
Primary Erythromelalgia |
|
Recurrent respiratory infections, Erythema, Hypothermia |
ORPHA:90026 |
Apnea, Central Sleep |
|
Cyanosis, Sleep apnea, Irregular respiration, Abnormal pattern of respiration |
OMIM:207720 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Aspiration pneumonia, Upper airway obstruction |
ORPHA:141152 |
Glycine N-Methyltransferase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly |
OMIM:606664 |
Emphysema, Hereditary Pulmonary |
|
Chronic pulmonary obstruction, Emphysema, Chronic bronchitis |
OMIM:130700 |
Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death, Respiratory insufficiency |
OMIM:611369 |
Tracheopathia Osteoplastica |
|
Wheezing, Dyspnea, Recurrent pneumonia, Cough |
OMIM:189961 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Laryngotracheal Angioma |
|
Wheezing, Stridor, Apnea, Cough, Respiratory distress, Cyanosis, Intercostal retractions |
ORPHA:137935 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Chronic pulmonary obstruction, Crackles, Bronchiectasis, Pneumothorax, Cough, Fever, Respiratory ... |
ORPHA:411703 |
Acute Lung Injury |
|
Hypoxemia, Pneumonia, Tachypnea, Fever, Respiratory distress, Abnormal pulmonary interstitial mor... |
ORPHA:178320 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Dysphagia, Bronchiolitis, Exertional dyspnea, Pulmonary fibrosis, Atelectasis |
ORPHA:254361 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Crazy paving pattern, Hypoxemia, Crackles, Cough, Fever, Cyanosis, Decreased DLCO, Restrictive ve... |
ORPHA:747 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Crazy paving pattern, Hypoxemia, Crackles, Tachypnea, Cough, Respiratory distress, Acute infectio... |
ORPHA:264675 |
Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
Gaucher Disease Type 2 |
|
Dysphagia, Abnormal pattern of respiration, Cough, Respiratory distress, Recurrent respiratory in... |
ORPHA:77260 |
Seizures, Benign Familial Infantile, 3 |
|
Cyanosis, Apnea |
OMIM:607745 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Neonatal respiratory distress, Death in infancy, Respiratory insufficiency, Hypothermia, Neonatal... |
OMIM:245400 |
Pulmonary Capillary Hemangiomatosis |
|
Hypoxemia, Pulmonary capillary hemangiomatosis, Centrilobular ground-glass opacification on pulmo... |
ORPHA:199241 |
Staphylococcal Necrotizing Pneumonia |
|
Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Cough, Fever, Pleural empyema, Respiratory distres... |
ORPHA:36238 |
Idiopathic Pulmonary Fibrosis |
|
Honeycomb lung, Crackles, Bronchiectasis, Ground-glass opacification, Cough, Exertional dyspnea, ... |
ORPHA:2032 |
Alpha-1-Antitrypsin Deficiency |
|
Wheezing, Chronic pulmonary obstruction, Chronic bronchitis, Panacinar emphysema, Dyspnea |
OMIM:613490 |
Seizures, Benign Familial Infantile, 1 |
|
Cyanosis, Apnea |
OMIM:601764 |
Allergic Bronchopulmonary Aspergillosis |
|
Respiratory insufficiency, Bronchiectasis, Pulmonary arterial hypertension, Cough, Low-grade feve... |
ORPHA:1164 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Apneic episodes in infancy, Hypothermia |
OMIM:610006 |
Pulmonary Venoocclusive Disease 2, Autosomal Recessive |
|
Pulmonary capillary hemangiomatosis, Centrilobular ground-glass opacification on pulmonary HRCT, ... |
OMIM:234810 |
Surfactant Metabolism Dysfunction, Pulmonary, 5 |
|
Respiratory insufficiency, Interlobular septal thickening, Ground-glass opacification, Exertional... |
OMIM:614370 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Dysphagia, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respi... |
OMIM:254210 |
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Dysphagia, Respiratory insufficiency, Respiratory failure, Respiratory distress, Restrictive vent... |
OMIM:614399 |
Bardet-Biedl Syndrome 16 |
|
Respiratory distress, Recurrent respiratory infections, Bronchiolitis |
OMIM:615993 |
Choanal Atresia |
|
Choking episodes, Chronic sinusitis, Upper airway obstruction, Respiratory distress, Cyanosis, Ab... |
ORPHA:137914 |
Interstitial Lung Disease 2 |
|
Elevated bronchoalveolar lavage fluid neutrophil proportion, Pulmonary arterial hypertension, Cou... |
OMIM:178500 |
Pneumocystosis |
|
Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Fever, Exertional dyspnea, Combin... |
ORPHA:723 |
Spontaneous Periodic Hypothermia |
|
Hypothermia, Abnormal pattern of respiration |
ORPHA:29822 |
Nephronophthisis-Like Nephropathy 2 |
|
Recurrent fever, Polydipsia, Bronchiectasis, Cough, Pulmonary infiltrates, Recurrent respiratory ... |
OMIM:619468 |
Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy |
OMIM:616341 |
Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis, Death in childhood |
OMIM:302000 |
Epilepsy, Pyridoxine-Dependent |
|
Respiratory distress, Neonatal respiratory distress |
OMIM:266100 |
Sarcoidosis, Susceptibility To, 2 |
|
Hypoxemia, Bronchiectasis, Pneumothorax, Pulmonary arterial hypertension, Elevated bronchoalveola... |
OMIM:612387 |
Pulmonary Alveolar Microlithiasis |
|
Pleural thickening, Exertional dyspnea, Restrictive ventilatory defect, Respiratory failure, Incr... |
ORPHA:60025 |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Death in infancy, Hypothermia, Sleep apnea, Abnormal pattern of respiration |
ORPHA:168593 |
Congenital Pulmonary Lymphangiectasia |
|
Chronic pulmonary obstruction, Pulmonary arterial hypertension, Cough, Respiratory distress, Cyan... |
ORPHA:2414 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Dysphagia, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respi... |
OMIM:605809 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Cyanosis |
ORPHA:91130 |
Primary Ciliary Dyskinesia |
|
Wheezing, Productive cough, Pulmonary situs ambiguus, Neonatal respiratory distress, Bronchiectas... |
ORPHA:244 |
Surfactant Metabolism Dysfunction, Pulmonary, 4 |
|
Reduced forced expiratory volume in one second, Tachypnea, Ground-glass opacification, Decreased ... |
OMIM:300770 |
Pulmonary Hemosiderosis |
|
Pulmonary fibrosis, Respiratory insufficiency, Recurrent intrapulmonary hemorrhage, Transient pul... |
OMIM:178550 |
Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Neonatal death, Death in infancy, Atelectasis |
OMIM:300219 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Neuralgic Amyotrophy |
|
Acrocyanosis, Respiratory insufficiency |
ORPHA:2901 |
Primary Pulmonary Hypoplasia |
|
Abnormal breath sound, Hypoxemia, Neonatal respiratory distress, Tachypnea, Pneumothorax, Apnea, ... |
ORPHA:2257 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
Diffuse Alveolar Hemorrhage |
|
Hypoxemia, Irregular septal thickening on pulmonary HRCT, Ground-glass opacification, Cough, Feve... |
ORPHA:90060 |
Chronic Beryllium Disease |
|
Reticulonodular pattern on pulmonary HRCT, Abnormal respiratory system physiology, Lymphocytic in... |
ORPHA:133 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:265430 |
Nipah Virus Disease |
|
Recurrent pharyngitis, Respiratory distress, Cough, Fever |
ORPHA:99825 |
Laryngeal Web, Familial |
|
Respiratory distress, Recurrent upper respiratory tract infections, Stridor |
OMIM:150360 |
Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
Laryngeal Abductor Paralysis |
|
Cyanosis, Stridor, Dysphagia |
OMIM:150260 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Interstitial pneumonitis, Tachypnea, Spontaneous neonatal pneumoth... |
ORPHA:217563 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Hemosiderin-laden macrophages in bronchoalveolar fluid, Tachypnea, Cough, Pulmonary hemorrhage, A... |
OMIM:616414 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Prolonged neonatal jaundice, Respiratory distress, Hypothermia |
ORPHA:226313 |
Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Recurrent bronchitis, Bronchiectasis, Chronic rhinitis, Absent outer dynein arms, Chro... |
OMIM:244400 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Tachypnea, Hypothermia |
OMIM:616501 |
Congenital Diaphragmatic Hernia |
|
Hypoxemia, Pulmonary hypoplasia, Respiratory distress |
ORPHA:2140 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Dysphagia, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Respirato... |
ORPHA:254875 |
Waardenburg Syndrome Type 3 |
|
Acrocyanosis, Tracheomalacia, Atelectasis |
ORPHA:896 |
Idiopathic Pulmonary Hemosiderosis |
|
Restrictive ventilatory defect, Crackles, Ground-glass opacification, Cough, Fever, Respiratory f... |
ORPHA:99931 |
Ciliary Dyskinesia, Primary, 2 |
|
Sinusitis, Ciliary dyskinesia, Bronchiectasis, Absent inner and outer dynein arms, Respiratory di... |
OMIM:606763 |
Anaplastic Thyroid Carcinoma |
|
Dysphagia, Neoplasm of the lung, Stridor, Cough, Upper airway obstruction, Respiratory distress, ... |
ORPHA:142 |
Menkes Disease |
|
Hypothermia, Death in childhood |
OMIM:309400 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Bilateral lung agenesis, Neonatal death, Respiratory insufficiency |
OMIM:601612 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Lymphocytic interstitial pneumonia |
OMIM:245590 |
Avian Influenza |
|
Productive cough, Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Ground-glass opacification, Coug... |
ORPHA:454836 |
Idiopathic Congenital Hypothyroidism |
|
Prolonged neonatal jaundice, Hypothermia |
ORPHA:95717 |
Malaria |
|
Respiratory distress, Fever |
ORPHA:673 |
Slc35A1-Cdg |
|
Hypoxemia, Pneumonia, Pulmonary hemorrhage, Subcutaneous hemorrhage, Respiratory distress |
ORPHA:238459 |
Congenital Tracheomalacia |
|
Wheezing, Neonatal respiratory distress, Apnea, Decreased peak expiratory flow, Emphysema, Respir... |
ORPHA:95430 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Death in infancy |
OMIM:604377 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory failure, Respiratory distress, Dyspnea |
ORPHA:1832 |
Lymphangioleiomyomatosis |
|
Pneumothorax, Cough, Fever, Pulmonary lymphangiomyomatosis, Pulmonary infiltrates, Restrictive ve... |
ORPHA:538 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Cough, Fever, Generalized abnormality of skin, Recurrent respiratory infections, Atelectasis |
ORPHA:2314 |
Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Hypothermia, Abnormality of temperature regulation, Fever, Hypoventilation, Recurrent pneumonia, ... |
OMIM:618493 |
Meningococcal Meningitis |
|
Neonatal respiratory distress, Hypothermia, Petechiae, Fever, Purpura |
ORPHA:33475 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Cyanosis, Central apnea |
ORPHA:71277 |
Alpha-1-Antitrypsin Deficiency |
|
Emphysema, Jaundice |
ORPHA:60 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress |
OMIM:619099 |
Larsen-Like Syndrome, Lethal Type |
|
Tracheomalacia, Pulmonary hypoplasia, Respiratory insufficiency, Neonatal death |
OMIM:245650 |
Aspergillosis |
|
Sinusitis, Chronic pulmonary obstruction, Pneumonia, Bronchiectasis, Ground-glass opacification, ... |
ORPHA:1163 |
Tularemia |
|
Pneumonia, Abnormal pulmonary thoracic imaging finding, Cough, Fever, Respiratory distress, Pulmo... |
ORPHA:3392 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Respiratory insufficiency |
ORPHA:238329 |
Congenital Enterovirus Infection |
|
Respiratory distress, Hypothermia, Pleural effusion, Fever |
ORPHA:292 |
Lymphoid Interstitial Pneumonia |
|
Wheezing, Subpleural interstitial thickening, Hypoxemia, Crackles, Bronchiectasis, Centrilobular ... |
ORPHA:79128 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress |
OMIM:615595 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Pneumonia, Hypothermia, Tachypnea, Episodic tachypnea, Respiratory distress, Jaundice |
ORPHA:26793 |
Obesity-Hypoventilation Syndrome |
|
Cyanosis, Hypoventilation |
OMIM:257500 |
Cutis Laxa, Autosomal Dominant 1 |
|
Progeroid facial appearance, Prematurely aged appearance, Emphysema |
OMIM:123700 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Sudden episodic apnea, Cyanosis, Respiratory insufficiency, Hypothermia |
ORPHA:159 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Death in childhood |
OMIM:615597 |
Goodpasture Syndrome |
|
Hemosiderin-laden macrophages in bronchoalveolar fluid, Restrictive ventilatory defect, Bloody br... |
OMIM:233450 |
Permanent Congenital Hypothyroidism |
|
Hypothermia, Jaundice |
ORPHA:226292 |
Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Emphysema, Facial erythema |
OMIM:618307 |
Bare Lymphocyte Syndrome, Type I |
|
Recurrent bronchitis, Bronchiectasis, Chronic sinusitis, Bronchiolitis, Emphysema, Nasal polyposis |
OMIM:604571 |
Ethylene Glycol Poisoning |
|
Episodic respiratory distress, Abnormal pattern of respiration, Hypothermia, Tachypnea, Cyanosis,... |
ORPHA:31826 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Angioedema, Respiratory distress, Erythema, Upper airway obstruction |
ORPHA:100057 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness |
OMIM:300580 |
Benign Familial Infantile Epilepsy |
|
Cyanosis, Apnea |
ORPHA:306 |
Developmental And Epileptic Encephalopathy 78 |
|
Hypothermia |
OMIM:618557 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Restrictive ventilatory defect, Exertional dyspnea, Cyanosis, Orthopnea, Reduced vital capacity, ... |
ORPHA:98913 |
Farber Disease |
|
Recurrent fever, Respiratory insufficiency, Respiratory distress, Recurrent upper respiratory tra... |
ORPHA:333 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... |
ORPHA:596 |
Histiocytosis, Familial Lipochrome |
|
Pulmonary infiltrates |
OMIM:235900 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress, Neuromuscular dysphagia |
ORPHA:240085 |
Congenital Myasthenic Syndrome |
|
Respiratory arrest, Dysphagia, Stridor, Apneic episodes precipitated by illness, fatigue, stress,... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Respiratory arrest, Dysphagia, Stridor, Apneic episodes precipitated by illness, fatigue, stress,... |
ORPHA:98914 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1 |
|
Crackles, Obstructive sleep apnea, Cough, Reticular pattern on pulmonary HRCT, Decreased DLCO, Pu... |
OMIM:614742 |
Thyroid Lymphoma |
|
Dysphagia, Stridor, Upper airway obstruction, Respiratory distress, Dyspnea |
ORPHA:97285 |
Chitayat Syndrome |
|
Tracheomalacia, Respiratory distress, Recurrent respiratory infections, Abnormal pulmonary inters... |
OMIM:617180 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Dysphagia, Stridor, Respiratory insufficiency, Respiratory distress, Recurrent respiratory infect... |
OMIM:211530 |
Scedosporiosis |
|
Sinusitis, Bronchial breath sound, Abnormal respiratory system physiology, Pneumonia, Pleuritis, ... |
ORPHA:449280 |
Acquired Methemoglobinemia |
|
Hypoxemia, Dyspnea, Respiratory distress, Cyanosis |
ORPHA:464453 |
Cleft Larynx, Posterior |
|
Cyanosis, Aspiration |
OMIM:215800 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Pulmonary hypoplasia |
OMIM:616733 |
Tricuspid Atresia |
|
Cyanosis, Pulmonary artery atresia |
ORPHA:1209 |
Adult Acute Respiratory Distress Syndrome |
|
Hypoxemia, Pneumonia, Abnormal blood gas level, Pulmonary edema, Pulmonary infiltrates, Respirato... |
ORPHA:70578 |
Pulmonary Arteriovenous Malformation |
|
Hypoxemia, Telangiectasia, Epistaxis, Pulmonary arterial hypertension, Pulmonary hemorrhage, Coug... |
ORPHA:2038 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Sinusitis, Dysphagia, Respiratory insufficiency, Cough, Recurrent intrapulmonary hemorrhage, Feve... |
ORPHA:183 |
Birt-Hogg-Dubé Syndrome |
|
Pneumothorax, Pulmonary sequestration, Emphysema |
ORPHA:122 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Exertional dyspnea, Cyanosis |
OMIM:250800 |
Familial Thyroid Dyshormonogenesis |
|
Prolonged neonatal jaundice, Hypothermia |
ORPHA:95716 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Neonatal respiratory distress, Neonatal death, Pulmonary hypoplasia, Pulmonary arterial hypertension |
OMIM:619003 |
Cyanosis, Transient Neonatal |
|
Cyanosis, Jaundice |
OMIM:613977 |
Lujo Hemorrhagic Fever |
|
Ecchymosis, Dysphagia, Crackles, Rhinitis, Fever, Respiratory distress, Purpura, Nonproductive co... |
ORPHA:319213 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Emphysema |
OMIM:614100 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Obstructive sleep apnea, Hypothermia, Polyphagia, Polydipsia, Recurrent lower respiratory tract i... |
ORPHA:293987 |
Leukodystrophy, Hypomyelinating, 17 |
|
Respiratory distress |
OMIM:618006 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Dysphagia, Episodic respiratory distress, Hypothermia, Apnea, Fever, Dyspnea, Hyperventilation |
ORPHA:255210 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Dysphagia, Intercostal muscle weakness, Respiratory insufficiency, Pulmonary arterial hypertensio... |
ORPHA:258 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Death in infancy, Respiratory distress, Neonatal respiratory distress |
OMIM:615042 |
Anti-Glomerular Basement Membrane Disease |
|
Respiratory insufficiency, Cough, Fever, Pulmonary infiltrates, Purpura |
ORPHA:375 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress |
ORPHA:26792 |
Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic fibrosis, Hepatic steatosis |
OMIM:614480 |
Congenital Hypothyroidism |
|
Sinusitis, Angiokeratoma corporis diffusum, Prolonged neonatal jaundice, Hypothermia |
ORPHA:442 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Ventilator dependence with inability to wean, Respiratory failure requiring... |
ORPHA:254864 |
Hypoadrenocorticism, Familial |
|
Cyanosis, Apnea |
OMIM:240200 |
Cutis Laxa-Marfanoid Syndrome |
|
Emphysema |
ORPHA:171719 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress |
OMIM:300934 |
Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
Cholestasis, Intrahepatic, Of Pregnancy, 1 |
|
Elevated hepatic transaminase, Abnormal liver function tests during pregnancy, Intrahepatic chole... |
OMIM:147480 |
Congenital Laryngeal Web |
|
Respiratory distress, Stridor |
ORPHA:2374 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress, Dysphagia |
ORPHA:240103 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Abnormal breath sound, Crackles, Cough, Pulmonary fibrosis, Abnormal pleura morphology, Restricti... |
ORPHA:210136 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Dysphagia, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Exertiona... |
ORPHA:365 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory failure, Dyspnea, Recurrent respiratory infections, Respiratory distress |
ORPHA:2759 |
Benign Familial Neonatal Epilepsy |
|
Apnea, Circumoral cyanosis |
ORPHA:1949 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Hypothermia, Tachypnea, Apnea, Fever, Jaundice |
ORPHA:20 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress |
OMIM:614741 |
Spinocerebellar Ataxia, X-Linked 3 |
|
Dysphagia, Death in infancy, Episodic respiratory distress, Episodic hypoventilation, Recurrent r... |
OMIM:301790 |
Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
Myopathy And Diabetes Mellitus |
|
Respiratory distress |
ORPHA:2596 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Hyperventilation, Hypothermia |
OMIM:618775 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hypothermia, Jaundice |
OMIM:251880 |
Sepsis In Premature Infants |
|
Abnormal respiratory system physiology, Petechiae, Fever, Cyanosis, Abnormal mucociliary clearanc... |
ORPHA:90051 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Respiratory failure, Cyanosis, Paroxysmal dyspnea, Stridor |
ORPHA:444013 |
Lethal Recessive Chondrodysplasia |
|
Respiratory distress |
ORPHA:1423 |
Mitochondrial Phosphate Carrier Deficiency |
|
Cyanosis, Respiratory insufficiency |
OMIM:610773 |
Chiari Malformation Type Ii |
|
Cyanosis, Dysphagia, Inspiratory stridor |
OMIM:207950 |
Whim Syndrome |
|
Sinusitis, Pneumonia, Bronchiectasis, Respiratory tract infection, Recurrent upper respiratory tr... |
ORPHA:51636 |
Brain-Lung-Thyroid Syndrome |
|
Neonatal respiratory distress, Unexplained fevers, Abnormal drinking behavior, Pulmonary arterial... |
ORPHA:209905 |
Eosinophilia, Familial |
|
Pulmonary infiltrates, Recurrent bronchitis |
OMIM:131400 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Acholic stools, Hepatitis, Cirrhosis, Elevated circulating alkaline phosphatase con... |
OMIM:613812 |
Immunodeficiency 60 And Autoimmunity |
|
Bronchiectasis, Recurrent sinopulmonary infections, Fever, Pulmonary infiltrates, Pulmonary fibrosis |
OMIM:618394 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Neonatal death, Pulmonary hypoplasia, Jaundice |
OMIM:231680 |
Dopamine Beta-Hydroxylase Deficiency |
|
Rhinitis, Dyspnea, Hypothermia |
ORPHA:230 |
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
|
Emphysema |
OMIM:210050 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Respiratory failure, Respiratory insufficiency, Hypothermia |
OMIM:618329 |
Zygomycosis |
|
Sinusitis, Pneumothorax, Epistaxis, Rhinorrhea, Cough, Fever, Pulmonary infiltrates, Acute infect... |
ORPHA:73263 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Cirrhosis, Neonatal cholestatic liver disease, Elevated circulating alkaline phosph... |
OMIM:214900 |
Absence Of The Pulmonary Artery |
|
Hypocapnia, Bronchiectasis, Pulmonary arterial hypertension, Cyanosis, Pulmonary edema, Recurrent... |
ORPHA:980 |
Immunodeficiency 27A |
|
Pulmonary infiltrates, Abnormal bronchus physiology, Pneumonia, Fever |
OMIM:209950 |
Tetanus |
|
Tachypnea, Respiratory distress, Dysphagia, Fever |
ORPHA:3299 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Temperature instability, Hypothermia, Dysphagia, Aspiration pneumonia |
ORPHA:99027 |
Yellow Nail Syndrome |
|
Sinusitis, Neoplasm of the lung, Bronchiectasis, Rhinitis, Pleuritis, Pulmonary arterial hyperten... |
ORPHA:662 |
Tetrasomy 5P |
|
Pulmonary arterial hypertension, Respiratory distress, Cyanosis, Recurrent respiratory infections... |
ORPHA:3309 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Hepatomegaly, Giant cell hepatitis, Elevated hepatic transaminase, Hepatic failure, Prolonged neo... |
OMIM:214950 |
Idiopathic Neonatal Atrial Flutter |
|
Tachypnea, Respiratory distress |
ORPHA:45452 |
Congenital Tricuspid Valve Dysplasia |
|
Hypoxemia, Tachypnea, Cyanosis, Anomalous pulmonary venous return, Respiratory failure, Respirato... |
ORPHA:555874 |
Neuroleptic Malignant Syndrome |
|
Dysphagia, Hypothermia, Fever, Pulmonary embolism, Aspiration pneumonia |
ORPHA:94093 |
Fanconi Renotubular Syndrome 5 |
|
Emphysema, Decreased DLCO, Pulmonary fibrosis, Lung adenocarcinoma |
OMIM:618913 |
Odontochondrodysplasia 1 |
|
Death in infancy, Respiratory distress, Recurrent respiratory infections, Pulmonary hypoplasia |
OMIM:184260 |
Gaucher Disease, Perinatal Lethal |
|
Dysphagia, Petechiae, Neonatal death, Apnea, Respiratory distress, Purpura, Pulmonary hypoplasia |
OMIM:608013 |
N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress |
OMIM:237310 |
Inhalational Anthrax |
|
Respiratory distress, Dyspnea, Fever |
ORPHA:247257 |
Arnold-Chiari Malformation Type Ii |
|
Dysphagia, Pneumonia, Apnea, Cyanosis, Inspiratory stridor |
ORPHA:1136 |
Short-Rib Thoracic Dysplasia 12 |
|
Neonatal death, Pulmonary hypoplasia, Respiratory insufficiency, Atelectasis |
OMIM:269860 |
Synaptic Congenital Myasthenic Syndromes |
|
Dysphagia, Neonatal respiratory distress, Respiratory insufficiency, Pulmonary arterial hypertens... |
ORPHA:98915 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Bruising susceptibility, Pulmonary hypoplasia, Respiratory insufficiency, Repeated pneumothoraces... |
ORPHA:536467 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Dyspnea, Cough |
ORPHA:86812 |
Congenital Tracheal Stenosis |
|
Wheezing, Neonatal asphyxia, Abnormal lung lobation, Upper airway obstruction, Respiratory distre... |
ORPHA:141127 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory failure, Respiratory distress, Pulmonary hypoplasia |
OMIM:617895 |
Hereditary Methemoglobinemia |
|
Exertional dyspnea, Cyanosis |
ORPHA:621 |
Alexander Disease |
|
Hypothermia, Dysphagia, Respiratory insufficiency, Sleep apnea |
ORPHA:58 |
Legionnaires Disease |
|
Restrictive ventilatory defect, Respiratory insufficiency, Cough, Fever, Pulmonary infiltrates, A... |
ORPHA:549 |
Esophageal Atresia |
|
Dysphagia, Chronic pulmonary obstruction, Episodic respiratory distress, Laryngotracheomalacia, R... |
ORPHA:1199 |
Complete Atrioventricular Septal Defect |
|
Wheezing, Crackles, Tachypnea, Elevated pulmonary artery pressure, Pulmonary venous hypertension,... |
ORPHA:1329 |
Portal Hypertension, Noncirrhotic, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension |
OMIM:617068 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Hepatic failure, Elevated hepatic transaminase, ... |
OMIM:616278 |
Lymphatic Malformation 7 |
|
Respiratory distress, Pulmonary edema |
OMIM:617300 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Temperature instability, Apnea, Cardiorespiratory arrest, Intermittent hypothermia |
OMIM:608643 |
Nasolacrimal Duct Cyst |
|
Abnormal breath sound, Paroxysmal dyspnea, Stridor, Episodic respiratory distress, Fever, Interco... |
ORPHA:141083 |
Atrial Septal Defect, Ostium Primum Type |
|
Pulmonary artery dilatation, Airway obstruction, Abnormal respiratory system physiology, Tachypne... |
ORPHA:99106 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Cirrhosis, Cholestasis, Elevated hepatic transaminase, Biliary cirrhosis, Portal hy... |
OMIM:617394 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Respiratory distress, Recurrent respiratory infections, Apnea, Hypothermia |
ORPHA:17 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Hypothermia, Pulmonary arterial hypertension, Respiratory distress, Pulmonary embolism, Jaundice |
ORPHA:79282 |
Folinic Acid-Responsive Seizures |
|
Respiratory distress, Apnea |
ORPHA:79097 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness |
ORPHA:1143 |
Gallbladder Disease 1 |
|
Cholangitis, Hepatic fibrosis, Cholelithiasis, Cholesterol gallstones, Elevated circulating alkal... |
OMIM:600803 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Respiratory distress, Dysphagia |
ORPHA:89844 |
Hypophosphatasia |
|
Emphysema, Respiratory insufficiency |
ORPHA:436 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Tachypnea, Hypoxemia, Cyanosis, Anomalous pulmonary venous return |
ORPHA:860 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Tachypnea, Respiratory insufficiency, Atelectasis |
OMIM:618278 |
Odontochondrodysplasia |
|
Respiratory distress, Death in infancy |
ORPHA:166272 |
Genetic Transient Congenital Hypothyroidism |
|
Prolonged neonatal jaundice, Hypothermia |
ORPHA:226316 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Cyanosis, Apnea |
OMIM:261680 |
Atrial Septal Defect, Coronary Sinus Type |
|
Pneumonia, Pulmonary arterial hypertension, Exertional dyspnea, Cyanosis, Anomalous pulmonary ven... |
ORPHA:99104 |
Diffuse Cutaneous Systemic Sclerosis |
|
Dysphagia, Pulmonary arterial hypertension, Telangiectasia of the skin, Pulmonary infiltrates, Pu... |
ORPHA:220393 |
Mercury Poisoning |
|
Respiratory failure, Respiratory distress, Dyspnea, Interstitial pneumonitis |
ORPHA:330021 |
Sarcoidosis |
|
Hypothermia, Bronchiectasis, Pneumothorax, Abnormal nasal mucosa morphology, Cough, Fever, Upper ... |
ORPHA:797 |
Double Outlet Right Ventricle |
|
Tachypnea, Cyanosis, Pulmonary artery atresia |
ORPHA:3426 |
Tbck-Related Intellectual Disability Syndrome |
|
Asthma, Respiratory insufficiency, Hypothermia |
ORPHA:488632 |
Granulomatosis With Polyangiitis |
|
Sinusitis, Hemosiderin-laden macrophages in bronchoalveolar fluid, Respiratory insufficiency, Ele... |
OMIM:608710 |
Fusariosis |
|
Sinusitis, Productive cough, Lung abscess, Pneumonia, Bronchiectasis, Ground-glass opacification,... |
ORPHA:228119 |
Atrial Septal Defect, Ostium Secundum Type |
|
Pneumonia, Pulmonary arterial hypertension, Breathing dysregulation, Exertional dyspnea, Cyanosis... |
ORPHA:99103 |
Hypoglossia With Situs Inversus |
|
Respiratory distress, Upper airway obstruction |
OMIM:612776 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Apnea, Respiratory distress, Hypoventilation, Recurrent pneumonia, Aspiration pneumonia |
ORPHA:314655 |
Hereditary Bullous Dystrophy, Macular Type |
|
Acrocyanosis, Pneumonia |
ORPHA:1867 |
Multiple Carboxylase Deficiency |
|
Tachypnea, Respiratory distress |
ORPHA:148 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Interstitial pneumonitis, Angioedema, Erythema, Cough, Fever, Pulmonary infiltrates, Dyspnea |
ORPHA:139402 |
Hypocomplementemic Urticarial Vasculitis |
|
Angioedema, Cough, Restrictive ventilatory defect, Dyspnea, Airway obstruction, Emphysema, Pleura... |
ORPHA:36412 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Elevated circulating alkaline... |
OMIM:619484 |
Myotonic Dystrophy 1 |
|
Respiratory distress, Dysphagia |
OMIM:160900 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Telangiectasia, Respiratory distress |
OMIM:608799 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Prolonged neonatal jaundice, Hypothermia |
ORPHA:90673 |
Immunodeficiency 89 And Autoimmunity |
|
Bronchiectasis, Recurrent lower respiratory tract infections, Pleural thickening, Asthma, Pulmona... |
OMIM:619632 |
Congenital Fibrinogen Deficiency |
|
Cyanosis, Fever, Bruising susceptibility, Subcutaneous hemorrhage |
ORPHA:335 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Respiratory insufficiency |
ORPHA:1145 |
Letterer-Siwe Disease |
|
Dyspnea, Pulmonary infiltrates, Fever, Jaundice |
OMIM:246400 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress |
OMIM:618426 |
Diaphanospondylodysostosis |
|
Respiratory distress |
ORPHA:66637 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Aortopulmonary window, Anomalous origin of left pulmonary artery from ascending aorta, Pulmonary ... |
ORPHA:99050 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress |
ORPHA:261304 |
Biliary Atresia, Extrahepatic |
|
Hepatomegaly, Portal fibrosis, Acholic stools, Atretic gallbladder, Bile duct proliferation, Cirr... |
OMIM:210500 |
Hughes-Stovin Syndrome |
|
Pulmonary artery aneurysm, Pulmonary arterial hypertension, Cough, Fever, Cardiorespiratory arres... |
ORPHA:228116 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Hepatic failure, Elevated ... |
OMIM:235555 |
Cystic Echinococcosis |
|
Abnormal pulmonary thoracic imaging finding, Urticaria, Multiple pulmonary cysts, Asthma, Pulmona... |
ORPHA:400 |
Buerger Disease |
|
Acrocyanosis |
ORPHA:36258 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Portal fibrosis, Bile duct proliferation, Cirrhosis, Elevated hepatic transaminase,... |
OMIM:602347 |
Hereditary Angioedema Type 1 |
|
Dysphagia, Dermatographic urticaria, Respiratory distress, Urticaria, Dyspnea, Inspiratory stridor |
ORPHA:100050 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Recurrent fever, Dysphagia, Unexplained fevers, Recurrent aspiration pneumonia, Hypothermia, Brui... |
ORPHA:642 |
Relapsing Polychondritis |
|
Abnormal pattern of respiration, Erythema, Cough, Purpura, Dyspnea, Atelectasis |
ORPHA:728 |
Isolated Right Ventricular Hypoplasia |
|
Hypoxemia, Dyspnea, Cyanosis |
ORPHA:439 |
Telangiectasia, Hereditary Hemorrhagic, Type 5 |
|
Elevated hepatic transaminase, Portal hypertension |
OMIM:615506 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Prolonged neonatal jaundice, Respiratory distress, Fever, Jaundice |
OMIM:274150 |
Primary Dystonia, Dyt4 Type |
|
Respiratory distress, Dysphagia |
ORPHA:98805 |
Motor Neuropathy, Peripheral, With Dysautonomia |
|
Cyanosis |
OMIM:252320 |
Cryptococcosis |
|
Pneumonia, Cough, Fever, Respiratory distress, Nodular pattern on pulmonary HRCT, Dyspnea, Pleura... |
ORPHA:1546 |
Hyperparathyroidism, Transient Neonatal |
|
Respiratory distress |
OMIM:618188 |
Toxic Epidermal Necrolysis |
|
Dysphagia, Polydipsia, Erythema, Cough, Respiratory distress, Abnormal pleura morphology, Restric... |
ORPHA:537 |
Hsd10 Disease, Infantile Type |
|
Cyanosis, Dysphagia |
ORPHA:391428 |
Nocardiosis |
|
Productive cough, Pneumonia, Pneumothorax, Pleuritis, Fever, Respiratory distress, Nonproductive ... |
ORPHA:31204 |
Idiopathic Hypereosinophilic Syndrome |
|
Dysphagia, Angioedema, Cough, Vasculitis in the skin, Fever, Respiratory distress, Cutis marmorat... |
ORPHA:3260 |
Diaphanospondylodysostosis |
|
Respiratory distress, Tracheomalacia, Pulmonary hypoplasia, Respiratory insufficiency |
OMIM:608022 |
Sarcoidosis, Susceptibility To, 1 |
|
Hypoxemia, Bronchiectasis, Pulmonary arterial hypertension, Cough, Elevated bronchoalveolar lavag... |
OMIM:181000 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Respiratory distress... |
ORPHA:308552 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress |
ORPHA:289916 |
Low Phospholipid-Associated Cholelithiasis |
|
Cholangitis, Hepatocellular carcinoma, Sclerosing cholangitis, Biliary tract obstruction, Choleli... |
ORPHA:69663 |
Oromandibular Dystonia |
|
Respiratory distress, Dysphagia |
ORPHA:93958 |
Griscelli Syndrome Type 2 |
|
Petechiae, Fever, Pulmonary infiltrates, Premature graying of hair, Jaundice |
ORPHA:79477 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
Renal Dysplasia-Limb Defects Syndrome |
|
Pneumothorax, Neonatal death, Respiratory distress, Respiratory failure, Pulmonary hypoplasia |
OMIM:266910 |
Cocaine Intoxication |
|
Wheezing, Tachypnea, Pneumothorax, Cough, Fever, Respiratory distress, Pulmonary edema, Pulmonary... |
ORPHA:90068 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Elevated hepatic t... |
ORPHA:79303 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent bronchopulmonary infections, Emphysema, Recurrent pneumonia, Bronchiectasis |
OMIM:242700 |
Gaucher Disease, Type I |
|
Epistaxis, Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Pulmonary... |
OMIM:230800 |
Dermatomyositis |
|
Respiratory insufficiency, Cutaneous photosensitivity, Lung adenocarcinoma, Pulmonary arterial hy... |
ORPHA:221 |
Scimitar Syndrome |
|
Bronchogenic cyst, Pneumothorax, Pulmonary sequestration, Pulmonary arterial hypertension, Anomal... |
ORPHA:185 |
Agnathia-Otocephaly Complex |
|
Respiratory distress, Tracheomalacia |
OMIM:202650 |
Bacterial Toxic-Shock Syndrome |
|
Sinusitis, Ecchymosis, Pneumonia, Tachypnea, Fever, Respiratory distress, Respiratory tract infec... |
ORPHA:36234 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Prolonged neonatal jaundice, Hypothermia |
ORPHA:90674 |
Pulmonary Hypertension, Primary, 1 |
|
Pulmonary artery vasoconstriction, Telangiectasia, Pulmonary arterial medial hypertrophy, Pulmona... |
OMIM:178600 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress |
OMIM:617102 |
Radio-Renal Syndrome |
|
Respiratory distress, Respiratory failure, Dyspnea, Pleural effusion, Chylothorax |
ORPHA:3015 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Respiratory distress, Recurrent respiratory infections |
ORPHA:329178 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress |
ORPHA:79312 |
Q Fever |
|
Pneumonia, Cough, Fever, Respiratory distress, Abnormal pulmonary interstitial morphology, Purpur... |
ORPHA:781 |
Orthostatic Hypotension 1 |
|
Intermittent hypothermia |
OMIM:223360 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Dysphagia, Obstructive sleep apnea, Hypothermia, Apnea, Breathing dysregulation, Central sleep ap... |
ORPHA:438213 |
Criss-Cross Heart |
|
Cyanosis, Respiratory insufficiency |
ORPHA:1461 |
Holocarboxylase Synthetase Deficiency |
|
Tachypnea, Respiratory distress |
ORPHA:79242 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Apneic episodes in infancy, Episodic tachypnea, Respiratory distress, Dyspnea, Intermittent hyper... |
ORPHA:348 |
Moebius Syndrome |
|
Respiratory distress, Dysphagia |
OMIM:157900 |
Mucopolysaccharidosis-Plus Syndrome |
|
Recurrent bronchopulmonary infections, Respiratory distress, Recurrent pneumonia, Death in childh... |
OMIM:617303 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Acrocyanosis, Decreased sensitivity to hypoxemia, Recurrent fever, Recurrent infections due to as... |
OMIM:223900 |
Unilateral Polymicrogyria |
|
Pseudobulbar paralysis, Epistaxis, Apnea, Pulmonary arteriovenous malformation, Cyanosis |
ORPHA:268943 |
Netherton Syndrome |
|
Urticaria, Recurrent respiratory infections, Emphysema, Asthma |
ORPHA:634 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatomegaly, Giant cell hepatitis, Acholic stools, Cirrhosis, Hepatic failure, Elevated hepatic ... |
OMIM:607765 |
Episodic Ataxia Type 1 |
|
Respiratory distress |
ORPHA:37612 |
Congenital Disorder Of Deglycosylation 1 |
|
Impaired oral bolus formation, Impaired oropharyngeal swallow response, Fever, Central sleep apne... |
OMIM:615273 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Respiratory distress |
ORPHA:544503 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Recurrent fever, Erythema, Acrocyanosis, Urticaria, Purpura |
ORPHA:343 |
Myasthenia Gravis |
|
Acrocyanosis, Dyspnea, Dysphagia |
ORPHA:589 |
Menkes Disease |
|
Prolonged neonatal jaundice, Hypothermia, Spontaneous hematomas |
ORPHA:565 |
Rodrigues Blindness |
|
Ectodermal dysplasia, Nasal flaring |
OMIM:268320 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Respiratory distress, Recurrent respiratory infections |
OMIM:619383 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress |
ORPHA:927 |
Craniofaciofrontodigital Syndrome |
|
Palmoplantar cutis laxa, Pulmonary arterial hypertension, Respiratory distress, Premature skin wr... |
ORPHA:363705 |
Histiocytoid Cardiomyopathy |
|
Tachypnea, Cough, Fever, Cyanosis, Pulmonary edema |
ORPHA:137675 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cyanosis, Apnea |
OMIM:619580 |
Marburg Hemorrhagic Fever |
|
Petechiae, Hypothermia, Fever, Nonproductive cough, Bruising susceptibility, Jaundice |
ORPHA:99826 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory failure, Respiratory distress, Dyspnea |
ORPHA:2707 |
Leigh Syndrome With Cardiomyopathy |
|
Dysphagia, Apnea, Respiratory distress, Central hypoventilation, Respiratory failure |
ORPHA:70474 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Respiratory distress, Pulmonary fibrosis |
OMIM:612852 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Generalized abnormality of skin, Respiratory distress, Respiratory insufficiency |
ORPHA:367 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Cyanotic episode |
ORPHA:284417 |
Stt3B-Cdg |
|
Respiratory distress |
ORPHA:370924 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Stridor, Hypothermia |
OMIM:218700 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Pulmonary arteriovenous malformati... |
OMIM:610655 |
Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress |
OMIM:618201 |
22Q11.2 Deletion Syndrome |
|
Chronic pulmonary obstruction, Abnormal lung lobation, Purpura, Asthma, Atelectasis |
ORPHA:567 |
Infantile Krabbe Disease |
|
Respiratory failure, Respiratory distress, Unexplained fevers, Temperature instability |
ORPHA:206436 |
Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis |
OMIM:250790 |
Oculocerebrorenal Syndrome Of Lowe |
|
Recurrent respiratory infections, Death in infancy, Respiratory insufficiency, Atelectasis |
ORPHA:534 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cyanosis, Pulmonary edema |
OMIM:261740 |
Common Variable Immunodeficiency |
|
Pneumonia, Recurrent bronchitis, Bronchiectasis, Purpura, Restrictive ventilatory defect, Recurre... |
ORPHA:1572 |
Occipital Horn Syndrome |
|
Hypothermia, Dysphagia, Bruising susceptibility, Jaundice |
ORPHA:198 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Restrictive ventilatory defect, Hypoxemia, Fingerpad telangiectases, Reduced FEV1/FVC ratio, Spon... |
OMIM:187300 |
Waldenström Macroglobulinemia |
|
Respiratory insufficiency, Epistaxis, Fever, Urticaria, Cutis marmorata, Pulmonary infiltrates, P... |
ORPHA:33226 |
Poems Syndrome |
|
Respiratory insufficiency due to muscle weakness, Pulmonary arterial hypertension, Acrocyanosis, ... |
ORPHA:2905 |
Hypereosinophilic Syndrome, Idiopathic |
|
Pulmonary infiltrates |
OMIM:607685 |
Aicardi-Goutieres Syndrome 1 |
|
Petechiae, Erythema, Fever, Acrocyanosis, Purpura, Prolonged neonatal jaundice |
OMIM:225750 |
Mogs-Cdg |
|
Respiratory distress, Pulmonary edema, Apnea, Hypoventilation |
ORPHA:79330 |
Japanese Encephalitis |
|
Abnormal pattern of respiration, Respiratory paralysis, Fever, Respiratory distress, Pulmonary ed... |
ORPHA:79139 |
Hemorrhagic Fever-Renal Syndrome |
|
Ecchymosis, Pneumonia, Petechiae, Epistaxis, Cough, Fever, Respiratory distress, Pulmonary edema,... |
ORPHA:340 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Respiratory distress, Pulmonary arterial hypertension |
OMIM:619272 |
Oculopharyngodistal Myopathy 1 |
|
Dysphagia, Hypercapnia, Respiratory insufficiency due to muscle weakness, Respiratory distress, A... |
OMIM:164310 |
Kniest Dysplasia |
|
Respiratory distress, Tracheomalacia |
OMIM:156550 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Respiratory distress |
OMIM:606164 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Respiratory failure, Respiratory distress, Apnea, Respiratory insufficiency |
OMIM:608836 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatomegaly, Hepatic fibrosis, Cholelithiasis, Elevated gamma-glutamyltransferase level, Biliary... |
ORPHA:567983 |
Tarp Syndrome |
|
Cyanosis, Pulmonary hypoplasia, Apnea |
ORPHA:2886 |
Arterial Tortuosity Syndrome |
|
Telangiectasia of the skin, Respiratory failure, Respiratory distress, Prematurely aged appearanc... |
ORPHA:3342 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cyanosis, Dysphagia |
ORPHA:488627 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Exertional dyspnea, Respiratory insufficiency due to muscle weakness, Respiratory distress |
OMIM:220110 |
Dravet Syndrome |
|
Cyanotic episode |
ORPHA:33069 |
Familial Dysautonomia |
|
Acrocyanosis, Recurrent respiratory infections, Abnormal pleura morphology, Malignant hyperthermia |
ORPHA:1764 |
Encephalopathy, Ethylmalonic |
|
Acrocyanosis, Petechiae |
OMIM:602473 |
Truncus Arteriosus |
|
Abnormal lung lobation, Tachypnea, Pulmonary artery hypoplasia, Cyanosis, Pulmonary edema, Pulmon... |
ORPHA:3384 |
Ethylmalonic Encephalopathy |
|
Acrocyanosis, Petechiae |
ORPHA:51188 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Cyanosis, Pulmonary artery hypoplasia |
ORPHA:2326 |
Chand Syndrome |
|
Atelectasis |
ORPHA:1401 |
Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital |
|
Neonatal respiratory distress, Respiratory acidosis, Erythema, Respiratory distress, Abnormal pul... |
OMIM:614748 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Apneic episodes in infancy, Paroxysmal dyspnea, Mixed total anomalous pulmonary venous connection... |
ORPHA:99125 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Respiratory distress |
OMIM:271225 |
Coccidioidomycosis |
|
Pneumonia, Cough, Fever, Pleural empyema, Respiratory distress, Pulmonary infiltrates, Exudative ... |
ORPHA:228123 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Prolonged neonatal jaundice, Hypothermia |
ORPHA:226307 |
Alternating Hemiplegia Of Childhood |
|
Dysphagia, Apnea, Respiratory distress, Aspiration, Flushing, Oral-pharyngeal dysphagia |
ORPHA:2131 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Acrocyanosis |
OMIM:614407 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Heat intolerance, Rhinitis, Fever, Respiratory distress, Periorbital wrinkles, Hypohidrotic ectod... |
OMIM:305100 |
Aortic Arch Interruption |
|
Tachypnea, Aortopulmonary window, Exertional dyspnea, Cyanosis, Respiratory distress |
ORPHA:2299 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Cyanosis |
ORPHA:3304 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Death in infancy, Respiratory insufficiency, Apnea, Cyanosis, Respiratory failure |
OMIM:252010 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Fingerpad telangiectases, Pulmonary arterial hypertension, Spontaneous, recurrent epistaxis, Conj... |
OMIM:600376 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Cyanosis, Death in infancy, Partial anomalous pulmonary venous return |
OMIM:617478 |
Atrioventricular Septal Defect 3 |
|
Cyanosis, Pulmonary arterial hypertension |
OMIM:600309 |
Microlissencephaly-Micromelia Syndrome |
|
Respiratory distress |
ORPHA:50810 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Respiratory distress |
ORPHA:990 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Pulmonary arterial hypertension |
ORPHA:2519 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Respiratory distress, Tracheomalacia, Neonatal respiratory distress |
OMIM:217980 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Recurrent respiratory infections, Emphysema |
OMIM:219100 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Respiratory distress, Recurrent respiratory infections |
OMIM:300968 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Unexplained fevers, Stridor, Pneumonia, Pneumothorax, Respiratory distress, Fragile skin, Respira... |
ORPHA:79404 |
Meier-Gorlin Syndrome 4 |
|
Emphysema |
OMIM:613804 |
Granulomatosis With Polyangiitis |
|
Sinusitis, Chronic pulmonary obstruction, Respiratory insufficiency, Pleuritis, Epistaxis, Cough,... |
ORPHA:900 |
Auriculocondylar Syndrome |
|
Respiratory distress, Snoring, Obstructive sleep apnea |
ORPHA:137888 |
Heterotaxy, Visceral, 7, Autosomal |
|
Total anomalous pulmonary venous return, Cyanosis, Pulmonary artery hypoplasia, Pulmonary artery ... |
OMIM:616749 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Stridor, Airway obstruction, Pulmonary arterial hypertension, Respiratory distress, Recurrent res... |
ORPHA:505248 |
Campomelic Dysplasia |
|
Respiratory distress, Apnea, Tracheobronchomalacia |
OMIM:114290 |
Listeriosis |
|
Pneumonia, Fever, Respiratory distress, Respiratory failure, Jaundice |
ORPHA:533 |
Eosinophilic Fasciitis |
|
Acrocyanosis |
ORPHA:3165 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Respiratory distress |
OMIM:612863 |
Loeys-Dietz Syndrome 4 |
|
Pneumothorax, Emphysema, Bruising susceptibility |
OMIM:614816 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Interstitial pneumonitis, Pneumonia, Respiratory distress, Urticaria, Recurrent respiratory infec... |
ORPHA:37042 |
Adnp Syndrome |
|
Polyphagia, Respiratory distress, Recurrent upper respiratory tract infections, Aspiration, Oral-... |
ORPHA:404448 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Respiratory distress, Palmoplantar cutis laxa |
OMIM:123790 |
Leptospirosis |
|
Cough, Pulmonary hemorrhage, Fever, Respiratory distress, Pleural effusion, Jaundice |
ORPHA:509 |
Spondyloepiphyseal Dysplasia Congenita |
|
Restrictive ventilatory defect, Respiratory distress |
OMIM:183900 |
Acquired Purpura Fulminans |
|
Acrocyanosis, Macular purpura |
ORPHA:49566 |
Majeed Syndrome |
|
Pulmonary infiltrates, Cough, Fever |
ORPHA:77297 |
Methylmalonic Aciduria, Cblb Type |
|
Respiratory distress |
OMIM:251110 |
Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Cyanosis |
OMIM:306955 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress |
OMIM:610536 |
Sea-Blue Histiocytosis |
|
Pulmonary infiltrates, Petechiae |
ORPHA:158029 |
Mgat2-Cdg |
|
Respiratory distress, Recurrent upper and lower respiratory tract infections |
ORPHA:79329 |
Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Aspiration |
OMIM:618733 |
Biotinidase Deficiency |
|
Respiratory distress, Apnea, Hyperventilation |
ORPHA:79241 |
Postinfectious Vasculitis |
|
Palpable purpura, Pneumonia, Vasculitis in the skin, Fever, Acrocyanosis, Cutis marmorata, Recurr... |
ORPHA:48435 |
Methylmalonic Aciduria, Cbla Type |
|
Respiratory distress |
OMIM:251100 |
Pfeiffer Syndrome Type 2 |
|
Respiratory distress, Tracheomalacia |
ORPHA:93259 |
Rare Circulatory System Disease |
|
Cyanosis |
ORPHA:98028 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Ecchymosis, Pneumothorax, Pulmonary bleb, Pulmonary bulla, Recurrent intrapulmonary hemorrhage, R... |
OMIM:130050 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Pulmonary artery stenosis, Tracheomalacia, Emphysema, Pulmonary hypoplasia |
OMIM:613177 |
Pfeiffer Syndrome Type 3 |
|
Respiratory distress, Tracheomalacia |
ORPHA:93260 |
Fabry Disease |
|
Chronic pulmonary obstruction, Respiratory insufficiency, Conjunctival telangiectasia, Telangiect... |
ORPHA:324 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Respiratory distress |
ORPHA:438216 |
Eisenmenger Syndrome |
|
Wheezing, Hypoxemia, Aortopulmonary window, Pulmonary arterial hypertension, Exertional dyspnea, ... |
ORPHA:97214 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Respiratory distress |
ORPHA:1555 |
Diamond-Blackfan Anemia 10 |
|
Respiratory distress |
OMIM:613309 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Emphysema, Premature skin wrinkling, Premature graying of hair, Abnormality of the pulmonary artery |
ORPHA:363618 |
Chronic Graft Versus Host Disease |
|
Bronchiolitis obliterans, Wheezing, Dysphagia, Bronchiectasis, Pneumothorax, Erythema, Cough, Pul... |
ORPHA:99921 |
Shwachman-Diamond Syndrome 1 |
|
Respiratory distress, Neonatal respiratory distress |
OMIM:260400 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Pneumonia, Rhinitis, Cough, Fever, Generalized abnormality of skin, Respiratory distress, Oral-ph... |
ORPHA:95455 |
Tuberous Sclerosis Complex |
|
Generalized abnormality of skin, Pulmonary lymphangiomyomatosis, Respiratory tract infection, Res... |
ORPHA:805 |
Kasabach-Merritt Syndrome |
|
Respiratory distress, Petechiae, Purpura, Hypopnea |
ORPHA:2330 |
Primary Sjögren Syndrome |
|
Lymphocytic interstitial pneumonia, Cutis marmorata, Abnormal pulmonary interstitial morphology, ... |
ORPHA:289390 |
Malt Lymphoma |
|
Recurrent respiratory infections, Pulmonary infiltrates, Fever |
ORPHA:52417 |
Pitt-Hopkins Syndrome |
|
Acrocyanosis, Abnormal pattern of respiration, Hyperventilation, Sleep apnea |
ORPHA:2896 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Recurrent respiratory infections, Pulmonary infiltrates, Pulmonary interstitial lymphocyte infilt... |
OMIM:606367 |
Pachyonychia Congenita |
|
Respiratory distress |
ORPHA:2309 |
Graft Versus Host Disease |
|
Pulmonary infiltrates, Pneumonia, Jaundice |
ORPHA:39812 |
Colchicine Poisoning |
|
Respiratory distress, Cardiorespiratory arrest |
ORPHA:31824 |
Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Recurrent respiratory infections |
ORPHA:177907 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Respiratory insufficiency, Peripheral pulmonary artery stenosis, Pneumothorax, Recurrent pneumoni... |
ORPHA:90349 |
Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Pulmonary arterial hypertension |
ORPHA:210122 |
Fucosidosis |
|
Acrocyanosis, Vascular skin abnormality |
ORPHA:349 |
Ramos-Arroyo Syndrome |
|
Respiratory distress |
ORPHA:1051 |
Meier-Gorlin Syndrome 6 |
|
Recurrent respiratory infections, Emphysema, Tracheobronchomalacia |
OMIM:616835 |
Vexas Syndrome |
|
Recurrent fever, Pulmonary infiltrates |
OMIM:301054 |
Keutel Syndrome |
|
Sinusitis, Peripheral pulmonary artery stenosis, Recurrent bronchitis, Chronic sinusitis, Pulmona... |
OMIM:245150 |
Hutchinson-Gilford Progeria Syndrome |
|
Pulmonary arterial hypertension, Upper airway obstruction, Prominent superficial blood vessels, E... |
ORPHA:740 |
Stüve-Wiedemann Syndrome |
|
Respiratory distress, Apnea, Asthma, Recurrent fever |
ORPHA:3206 |
Schinzel-Giedion Syndrome |
|
Respiratory distress, Dysphagia, Pulmonary hypoplasia, Recurrent pneumonia |
ORPHA:798 |
Isolated Arrhinia |
|
Respiratory distress |
ORPHA:1134 |
Neonatal Marfan Syndrome |
|
Neonatal respiratory distress, Hypoxemia, Emphysema |
ORPHA:284979 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory failure, Respiratory distress, Dyspnea |
ORPHA:2554 |
Meier-Gorlin Syndrome 1 |
|
Respiratory distress |
OMIM:224690 |
Osteoglophonic Dysplasia |
|
Respiratory distress |
OMIM:166250 |
Niemann-Pick Disease Type C |
|
Dysphagia, Respiratory insufficiency, Pulmonary infiltrates, Abnormal lung morphology, Respirator... |
ORPHA:646 |
Hemangiomatosis, Cutaneous, With Associated Features |
|
Acrocyanosis |
OMIM:234800 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Nasal flaring, Dysphagia, Asthma |
ORPHA:466943 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory failure, Respiratory distress, Dyspnea, Erythema |
ORPHA:2556 |
Arboleda-Tham Syndrome |
|
Respiratory distress, Neonatal respiratory distress |
OMIM:616268 |
Gitelman Syndrome |
|
Salt craving, Respiratory distress, Polydipsia |
ORPHA:358 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Respiratory insufficiency, Tachypnea, Cough, Abnormal pulmonary interstitial morphology, Respirat... |
OMIM:613658 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Pulmonary hypoplasia |
ORPHA:83617 |
Plague |
|
Respiratory distress, Fever, Acute infectious pneumonia |
ORPHA:707 |
Cleidocranial Dysplasia |
|
Respiratory distress, Neonatal respiratory distress |
OMIM:119600 |
Ulbright-Hodes Syndrome |
|
Respiratory failure, Pneumothorax, Pulmonary hypoplasia, Respiratory distress |
ORPHA:3404 |
Ellis Van Creveld Syndrome |
|
Emphysema, Aplasia/Hypoplasia of the lungs |
ORPHA:289 |
Behçet Disease |
|
Pleuritis, Fever, Pulmonary infiltrates, Pulmonary embolism, Pleural effusion |
ORPHA:117 |
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation |
|
Recurrent bronchopulmonary infections, Emphysema, Recurrent pneumonia |
OMIM:219721 |
Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Cyanosis, Pulmonary arterial hypertension, Fever |
ORPHA:51608 |
Autosomal Dominant Cutis Laxa |
|
Peripheral pulmonary artery stenosis, Bronchiectasis, Bronchiolitis, Prematurely aged appearance,... |
ORPHA:90348 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Respiratory distress |
OMIM:617088 |
Aicardi-Goutières Syndrome |
|
Prolonged neonatal jaundice, Cutis marmorata, Unexplained fevers, Acrocyanosis |
ORPHA:51 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Pulmonary artery aneurysm, Pulmonary artery dilatation, Emphysema |
OMIM:614437 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Pulmonary artery stenosis, Respiratory distress |
ORPHA:2255 |
Hyperoxaluria, Primary, Type I |
|
Acrocyanosis, Cutis marmorata |
OMIM:259900 |
Doors Syndrome |
|
Respiratory distress, Aspiration pneumonia |
ORPHA:79500 |
Marfan Syndrome |
|
Pulmonary artery dilatation, Emphysema, Reduced subcutaneous adipose tissue, Pneumothorax |
OMIM:154700 |
Autoimmune Lymphoproliferative Syndrome |
|
Urticaria, Bruising susceptibility, Pulmonary fibrosis, Pulmonary infiltrates |
ORPHA:3261 |
Marfan Syndrome |
|
Pulmonary artery dilatation, Emphysema, Spontaneous pneumothorax |
ORPHA:558 |
Rubinstein-Taybi Syndrome 1 |
|
Respiratory distress, Recurrent upper respiratory tract infections, Obstructive sleep apnea |
OMIM:180849 |
Primary Hyperoxaluria |
|
Acrocyanosis, Cutis marmorata |
ORPHA:416 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|