Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Small fo... |
ORPHA:70589 |
Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... |
OMIM:253240 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... |
OMIM:619466 |
Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... |
OMIM:615872 |
Asbestos Intoxication |
|
Reduced forced vital capacity, Nonproductive cough, Diffuse reticular or finely nodular infiltrat... |
ORPHA:2302 |
Pulmonary Blastoma |
|
Pleuropulmonary blastoma, Dyspnea, Recurrent pneumonia, Weight loss, Pulmonary infiltrates, Cough |
ORPHA:64741 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Cyanosis, Type II pneumocyte hypertrophy, Desquamative interstitial pneumon... |
OMIM:263000 |
Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... |
OMIM:615294 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e... |
OMIM:267450 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in... |
ORPHA:60032 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Ground-glass opacification, Dys... |
OMIM:265120 |
Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re... |
OMIM:616726 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Dyspnea, Ground-glass opacification, Nodular pattern on pulmonary HRCT, Cough |
ORPHA:60026 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Abnormal pulmonary thoracic imaging finding, Crackles, Atelectasis, Hypersensitivity pneumonitis,... |
ORPHA:2902 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Atelectasis, Chronic sinusitis, Recurrent bronchitis |
OMIM:300455 |
Acute Interstitial Pneumonia |
|
Cyanosis, Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackle... |
ORPHA:79126 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Abnormal pulmonary thoracic imaging finding, Maternal diabetes, Atelectasis... |
ORPHA:70588 |
Infant Acute Respiratory Distress Syndrome |
|
Cyanosis, Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemi... |
ORPHA:70587 |
Familial Nasal Acilia |
|
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... |
ORPHA:922 |
Immunodeficiency 95 |
|
Respiratory distress, Recurrent respiratory infections, Ground-glass opacification, Respiratory f... |
OMIM:619773 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Weight loss, Aspiration pneumonia |
ORPHA:141152 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... |
OMIM:610913 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Death in infancy, Pneumonia |
OMIM:254120 |
Pleural Mesothelioma |
|
Respiratory distress, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology, Abnormal res... |
ORPHA:50251 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ... |
OMIM:610978 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Ground-glass opacification, Non... |
ORPHA:1302 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Ground-glass opacification, Respiratory tract infection, Hypersensitivity pneumonitis, Nonproduct... |
ORPHA:79127 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:265430 |
Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... |
ORPHA:3348 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... |
ORPHA:1303 |
Emphysema, Hereditary Pulmonary |
|
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis |
OMIM:130700 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Recurrent respiratory infections, Cyanosis, Lung abscess, Pneumonia, Dyspnea, Intraalveolar phosp... |
OMIM:610910 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, F... |
ORPHA:264675 |
High Altitude Pulmonary Edema |
|
Orthopnea, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough, Pulmonary opacity, Pulmonary... |
ORPHA:330012 |
Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure, Pulmonary hypoplasia |
OMIM:619887 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B |
|
Neonatal death, Apnea, Pulmonary hypoplasia |
OMIM:615228 |
Interstitial Lung Disease 1 |
|
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Gro... |
OMIM:619611 |
Idiopathic Bronchiectasis |
|
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Cachexia, ... |
ORPHA:60033 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Dyspnea, Pneumothorax, Chronic pulmonary obstruction, Bronchiecta... |
ORPHA:411703 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Diabetes mellitus, Dysp... |
ORPHA:140896 |
Bronchogenic Cyst |
|
Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneumonia, Abnormal pleura morpholog... |
ORPHA:2357 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Cyanosis, Intercostal retractions, Ground-glass opacification, Reduced forc... |
ORPHA:91359 |
C1Q Deficiency 2 |
|
Atelectasis, Bronchiectasis, Facial erythema, Vasculitis in the skin, Recurrent lower respiratory... |
OMIM:620321 |
Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Apnea, Asthma, Pneumot... |
ORPHA:2257 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Cyanosis, Crazy paving pattern, Crackles, Dyspnea, Intraalveolar phospholipid accumulation, Weigh... |
ORPHA:747 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal pleura morphology, Respiratory insufficiency, Pulmonary infiltrates, Restrictive ventila... |
ORPHA:724 |
Laryngotracheoesophageal Cleft |
|
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Coug... |
ORPHA:2004 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Failure to thrive, Lymphocytic interstitial pneumonia |
OMIM:245590 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Bronchiolitis, Atelectasis, Pulmonary fibrosis, Exertional dyspnea |
ORPHA:254361 |
Interstitial Lung Disease 2 |
|
Dyspnea, Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neutrophil proportion, Pu... |
OMIM:178500 |
Idiopathic Pulmonary Fibrosis |
|
Crackles, Ground-glass opacification, Bronchiectasis, Abnormal pulmonary interstitial morphology,... |
ORPHA:2032 |
Bardet-Biedl Syndrome 16 |
|
Bronchiolitis, Recurrent respiratory infections, Respiratory distress, Obesity |
OMIM:615993 |
Congenital Diaphragmatic Hernia |
|
Hypoxemia, Pulmonary hypoplasia, Respiratory distress |
ORPHA:2140 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Crackles, Ground-glass opacification, Atelectasis, Dyspnea, Asthma, Wheezing, Abnormal pulmonary ... |
OMIM:620233 |
Chronic Beryllium Disease |
|
Lymphocytic interstitial pneumonia, Ground-glass opacification, Hypersensitivity pneumonitis, Dys... |
ORPHA:133 |
Pulmonary Venoocclusive Disease 2, Autosomal Recessive |
|
Pulmonary venous occlusion, Dyspnea, Pulmonary capillary hemangiomatosis, Centrilobular ground-gl... |
OMIM:234810 |
Waardenburg Syndrome Type 3 |
|
Tracheomalacia, Atelectasis, Acrocyanosis |
ORPHA:896 |
Pulmonary Capillary Hemangiomatosis |
|
Cyanosis, Pulmonary edema, Diffuse alveolar hemorrhage, Ground-glass opacification, Pulmonary cap... |
ORPHA:199241 |
Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Atelectasis, Neonatal death, Death in infancy |
OMIM:300219 |
Larsen-Like Syndrome, Lethal Type |
|
Tracheomalacia, Neonatal death, Pulmonary hypoplasia, Respiratory insufficiency |
OMIM:245650 |
Surfactant Metabolism Dysfunction, Pulmonary, 5 |
|
Ground-glass opacification, Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insuffi... |
OMIM:614370 |
Acute Lung Injury |
|
Respiratory distress, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal pulmon... |
ORPHA:178320 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Cough, Pulmonary arterial hyperten... |
ORPHA:2414 |
Renal Hypodysplasia/Aplasia 2 |
|
Pulmonary hypoplasia |
OMIM:615721 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Diabetes mellitus, Pneumonia, Nonproductive cough, Dyspnea, Pneumothorax, T... |
ORPHA:36238 |
Gaucher Disease Type 2 |
|
Respiratory distress, Recurrent respiratory infections, Abnormal pattern of respiration, Cough |
ORPHA:77260 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Dyspnea, Tachypnea, Abnormal pulmonary interstitial morphology, Restrictive ventilatory defect, H... |
OMIM:616414 |
Pneumocystosis |
|
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Nonproductive cough... |
ORPHA:723 |
Allergic Bronchopulmonary Aspergillosis |
|
Asthma, Bronchiectasis, Respiratory insufficiency, Weight loss, Cough, Pulmonary arterial hyperte... |
ORPHA:1164 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Death in infancy, Pulmonary hypoplasia, Death in childhood, Neonatal death, Failure to thrive |
OMIM:614096 |
Alpha-1-Antitrypsin Deficiency |
|
Chronic bronchitis, Dyspnea, Panacinar emphysema, Chronic pulmonary obstruction, Wheezing, Bronch... |
OMIM:613490 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti... |
ORPHA:244 |
Surfactant Metabolism Dysfunction, Pulmonary, 4 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Ground-glass opaci... |
OMIM:300770 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Small for gestational age, Pulmonary hypoplasia |
OMIM:616733 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death, Bilateral lung agenesis, Patent ductus arteriosus, Respiratory insufficiency |
OMIM:601612 |
Congenital Tracheomalacia |
|
Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac... |
ORPHA:95430 |
Laryngotracheal Angioma |
|
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough |
ORPHA:137935 |
Perching Syndrome |
|
Respiratory distress, Cyanosis |
OMIM:617055 |
Choanal Atresia |
|
Respiratory distress, Recurrent respiratory infections, Cyanosis, Upper airway obstruction, Trach... |
ORPHA:137914 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Failure to thrive, Cyanosis |
ORPHA:91130 |
Sarcoidosis, Susceptibility To, 2 |
|
Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphology, Pulmonary infi... |
OMIM:612387 |
Pulmonary Alveolar Microlithiasis |
|
Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Respiratory tract in... |
ORPHA:60025 |
Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Weight loss, Neoplasm of the lung, Strid... |
ORPHA:142 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Neonatal death, Pulmonary arterial hypertension, Neonatal respiratory distress, Pulmonary hypoplasia |
OMIM:619003 |
Pulmonary Hemosiderosis |
|
Recurrent intrapulmonary hemorrhage, Transient pulmonary infiltrates, Pulmonary fibrosis, Respira... |
OMIM:178550 |
Slc35A1-Cdg |
|
Respiratory distress, Pneumonia, Hypoxemia, Subcutaneous hemorrhage, Pulmonary hemorrhage |
ORPHA:238459 |
Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Ciliary dyskinesia, Chr... |
OMIM:244400 |
Phosphoserine Aminotransferase Deficiency |
|
Death in infancy, Cyanotic episode, Apnea |
OMIM:610992 |
Seizures, Benign Familial Infantile, 3 |
|
Cyanosis, Apnea |
OMIM:607745 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis, Death in childhood |
OMIM:302000 |
Seizures, Benign Familial Infantile, 1 |
|
Cyanosis, Apnea |
OMIM:601764 |
Avian Influenza |
|
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Ground-glass opacification, Nonpr... |
ORPHA:454836 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Failure to thrive in infancy, Respiratory insufficiency due to muscle weakn... |
ORPHA:254875 |
Diffuse Alveolar Hemorrhage |
|
Respiratory failure requiring assisted ventilation, Ground-glass opacification, Dyspnea, Increase... |
ORPHA:90060 |
Alpha-1-Antitrypsin Deficiency |
|
Jaundice, Emphysema |
ORPHA:60 |
Chitayat Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Abnormal pulmonary interstitial morpholog... |
OMIM:617180 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
Tricuspid Atresia |
|
Pulmonary artery atresia, Cyanosis |
ORPHA:1209 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... |
ORPHA:596 |
Niemann-Pick Disease, Type B |
|
Recurrent respiratory infections, Dyspnea, Abnormal pulmonary interstitial morphology, Diffuse re... |
OMIM:607616 |
Lymphoid Interstitial Pneumonia |
|
Multiple pulmonary cysts, Crackles, Ground-glass opacification, Respiratory tract infection, Dysp... |
ORPHA:79128 |
Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy |
OMIM:616341 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Emphysema, Facial erythema |
OMIM:618307 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Pulmonary hypoplasia |
OMIM:613124 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Atelectasis, Generalized abnormality of skin, Recurrent respiratory infections, Cough |
ORPHA:2314 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Recurrent respiratory infections, Sinusitis, Bronchiectasis, Immotile cilia... |
OMIM:606763 |
Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Recurrent acute respiratory tract infection, Paradoxical respiration, Respiratory distress |
OMIM:620011 |
Idiopathic Pulmonary Hemosiderosis |
|
Crackles, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Dyspnea, Ground-glass o... |
ORPHA:99931 |
Neuralgic Amyotrophy |
|
Acrocyanosis, Respiratory insufficiency |
ORPHA:2901 |
Ciliary Dyskinesia, Primary, 20 |
|
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... |
OMIM:615067 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Death in adolescence, Stillbirth, Neonatal death, Pulmonary arterial hypert... |
OMIM:619751 |
Lethal Congenital Contracture Syndrome 11 |
|
Pulmonary hypoplasia |
OMIM:617194 |
Farber Disease |
|
Respiratory distress, Nodular pattern on pulmonary HRCT, Atelectasis, Recurrent upper respiratory... |
ORPHA:333 |
Goodpasture Syndrome |
|
Cyanosis, Nodular pattern on pulmonary HRCT, Crackles, Ground-glass opacification, Increased DLCO... |
OMIM:233450 |
Primary Effusion Lymphoma |
|
Dyspnea, Pleural effusion |
ORPHA:48686 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... |
ORPHA:217563 |
Microphthalmia, Syndromic 12 |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:615524 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Abnormal lung lobation, Pulmonary hypoplasia |
ORPHA:2631 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
|
Crackles, Dyspnea, Premature graying of hair, Decreased DLCO, Pulmonary fibrosis, Cough, Reticula... |
OMIM:614742 |
Birt-Hogg-Dubé Syndrome |
|
Emphysema, Pneumothorax, Pulmonary sequestration |
ORPHA:122 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Recurrent respiratory infections, Atelectasis, Tachypnea, Respiratory insufficiency, Hepatocellul... |
OMIM:618278 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Crackles, Abnormal pleura morphology, Dyspnea, Restrictive ventilatory defect, Pulmonary fibrosis... |
ORPHA:210136 |
Nipah Virus Disease |
|
Respiratory distress, Recurrent pharyngitis, Cough |
ORPHA:99825 |
Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Respiratory insufficiency, Restrictive ventilatory defect, Respiratory fail... |
OMIM:614399 |
Congenital Heart Block |
|
Patent ductus arteriosus, Pleural effusion, Cyanosis, Crackles |
ORPHA:60041 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea,... |
OMIM:618426 |
Lymphangioleiomyomatosis |
|
Recurrent respiratory infections, Atelectasis, Dyspnea, Pneumothorax, Pulmonary infiltrates, Rest... |
ORPHA:538 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Decreased body weight |
OMIM:300580 |
Bare Lymphocyte Syndrome, Type I |
|
Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Recurrent bronchitis |
OMIM:604571 |
Tularemia |
|
Respiratory distress, Abnormal pulmonary thoracic imaging finding, Pneumonia, Pulmonary infiltrat... |
ORPHA:3392 |
Nphp3-Related Meckel-Like Syndrome |
|
Pulmonary hypoplasia |
ORPHA:3032 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Patent ductus arteriosus, Neonatal respiratory distress, Pulmonary hypoplasia, Respiratory failure |
OMIM:616867 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Pulmonary hypoplasia |
OMIM:616531 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Emphysema |
OMIM:614100 |
Obesity-Hypoventilation Syndrome |
|
Hypoventilation, Cyanosis, Obesity |
OMIM:257500 |
Pulmonary Arteriovenous Malformation |
|
Cyanosis, Epistaxis, Dyspnea, Telangiectasia, Hypoxemia, Pleural empyema, Pulmonary hemorrhage, C... |
ORPHA:2038 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... |
OMIM:254210 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Recurrent respiratory infections, Failure to thrive, Cyanosis, Patent ductus arteriosus, Aortopul... |
ORPHA:99050 |
Tetrasomy 5P |
|
Respiratory distress, Recurrent respiratory infections, Cyanosis, Pulmonary hypoplasia, Pulmonary... |
ORPHA:3309 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Failure to thrive, Ketotic hypoglycemia |
ORPHA:26792 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Atelectasis, Respiratory insufficiency, Pulmonary arterial hypertension, Respira... |
ORPHA:258 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Cyanosis, Small for gestational age, Maternal diabetes, Patent ductus arteriosus, Tachypnea, Anom... |
ORPHA:860 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Respiratory insufficiency |
ORPHA:238329 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Hypoglycemia, Jaundice, Pulmonary hypoplasia, Glycosuria, Neonatal death, H... |
OMIM:231680 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Central apnea, Cyanosis |
ORPHA:71277 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Death in infancy, Progeroid facial appearance, Atelectasis, Recurrent pneumonia, Pulmonary hypopl... |
OMIM:613177 |
Cutis Laxa-Marfanoid Syndrome |
|
Emphysema |
ORPHA:171719 |
Renal Tubular Dysgenesis |
|
Pulmonary hypoplasia |
ORPHA:3033 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... |
OMIM:605809 |
Congenital Myopathy 21 With Early Respiratory Failure |
|
Nocturnal hypoventilation, Dyspnea, Respiratory failure, Lipoid pneumonia |
OMIM:620326 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:1832 |
Hereditary Methemoglobinemia |
|
Cyanosis, Small for gestational age, Exertional dyspnea |
ORPHA:621 |
Spondylospinal Thoracic Dysostosis |
|
Pulmonary hypoplasia |
OMIM:601809 |
Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Dyspnea, Pulmonary infiltrates, Hypoxemia, Diabetic ketoacidosis, Respiratory failure,... |
ORPHA:70578 |
Lethal Congenital Contracture Syndrome 1 |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:253310 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Respiratory distress, Death in infancy, Failure to thrive |
OMIM:616974 |
Absence Of The Pulmonary Artery |
|
Recurrent respiratory infections, Orthopnea, Cyanosis, Abnormal pulmonary thoracic imaging findin... |
ORPHA:980 |
Lymphatic Malformation 12 |
|
Neonatal respiratory distress, Pleural thickening, Death in adolescence, Neonatal death, Recurren... |
OMIM:620014 |
Congenital Tricuspid Valve Dysplasia |
|
Respiratory failure requiring assisted ventilation, Cyanosis, Small for gestational age, Tachypne... |
ORPHA:555874 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Respiratory failure, Dyspnea |
ORPHA:2759 |
Lujo Hemorrhagic Fever |
|
Respiratory distress, Crackles, Atelectasis, Nonproductive cough, Rhinitis, Ecchymosis, Purpura |
ORPHA:319213 |
Agnathia-Otocephaly Complex |
|
Respiratory distress, Pulmonary hypoplasia, Tracheomalacia |
OMIM:202650 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress, Failure to thrive |
OMIM:300934 |
Benign Familial Infantile Epilepsy |
|
Cyanosis, Apnea |
ORPHA:306 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Orthopnea, Respiratory tract infection, Atelectasis, Respiratory insufficie... |
ORPHA:365 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress, Failure to thrive, Cachexia, Weight loss |
OMIM:612075 |
Odontochondrodysplasia 1 |
|
Respiratory distress, Recurrent respiratory infections, Pulmonary hypoplasia, Death in infancy |
OMIM:184260 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... |
OMIM:211530 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Respiratory failure, Pulmonary hypoplasia |
OMIM:617895 |
Atelosteogenesis, Type Ii |
|
Death in infancy, Stillbirth, Pulmonary hypoplasia, Respiratory insufficiency |
OMIM:256050 |
Whim Syndrome |
|
Sinusitis, Pneumonia, Respiratory tract infection, Atelectasis, Recurrent upper respiratory tract... |
ORPHA:51636 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress |
OMIM:619099 |
Congenital Tracheal Stenosis |
|
Respiratory distress, Cyanosis, Neonatal asphyxia, Abnormal lung morphology, Dyspnea, Abnormal lu... |
ORPHA:141127 |
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
|
Emphysema |
OMIM:210050 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Orthopnea, Reduced vital capacity, Cyanosis, Restrictive ventilatory defect, Respiratory failure,... |
ORPHA:98913 |
Hypophosphatasia |
|
Emphysema, Failure to thrive in infancy, Respiratory insufficiency |
ORPHA:436 |
Yellow Nail Syndrome |
|
Recurrent respiratory infections, Sinusitis, Dyspnea, Bronchiectasis, Neoplasm of the lung, Rhini... |
ORPHA:662 |
Esophageal Atresia |
|
Respiratory distress, Recurrent respiratory infections, Cyanosis, Small for gestational age, Fail... |
ORPHA:1199 |
Short-Rib Thoracic Dysplasia 12 |
|
Atelectasis, Patent ductus arteriosus, Respiratory insufficiency, Pulmonary hypoplasia, Neonatal ... |
OMIM:269860 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Pulmonary hypoplasia |
OMIM:618174 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Pulmonary hypoplasia |
ORPHA:2141 |
Hypoadrenocorticism, Familial |
|
Cyanosis, Apnea, Hypoglycemia |
OMIM:240200 |
Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory tract infec... |
ORPHA:308552 |
Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Tachypnea, Maternal diabetes, Large for gestational age |
ORPHA:45452 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Stillbirth, Pulmonary hypoplasia |
OMIM:617468 |
Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress |
OMIM:613642 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Recurrent intrapulmonary hemorrhage, Cutis marmorata, Sinusitis, Abnormal pleura morphology, Asth... |
ORPHA:183 |
Renal Tubular Dysgenesis |
|
Pulmonary hypoplasia, Respiratory insufficiency |
OMIM:267430 |
Complete Atrioventricular Septal Defect |
|
Cyanosis, Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated p... |
ORPHA:1329 |
Double Outlet Right Ventricle |
|
Pulmonary artery atresia, Failure to thrive, Cyanosis, Tachypnea |
ORPHA:3426 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Repeated pneumothoraces, Atelectasis, Respiratory insufficiency, Restrictiv... |
ORPHA:536467 |
Atrial Septal Defect, Ostium Primum Type |
|
Recurrent respiratory infections, Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physi... |
ORPHA:99106 |
Granulomatous Disease, Chronic, X-Linked |
|
Atelectasis, Recurrent pneumonia, Air bronchogram, Cough, Pleural effusion |
OMIM:306400 |
Pericardial And Diaphragmatic Defect |
|
Neonatal respiratory distress, Patent ductus arteriosus, Hypoxemia, Pulmonary hypoplasia, Pulmona... |
ORPHA:2847 |
Fanconi Renotubular Syndrome 5 |
|
Pulmonary fibrosis, Glycosuria, Decreased DLCO, Emphysema, Lung adenocarcinoma |
OMIM:618913 |
Acquired Methemoglobinemia |
|
Hypoxemia, Dyspnea, Cyanosis, Respiratory distress |
ORPHA:464453 |
Congenital Myasthenic Syndrome |
|
Recurrent respiratory infections, Cyanosis, Sudden episodic apnea, Intermittent episodes of respi... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Recurrent respiratory infections, Cyanosis, Sudden episodic apnea, Intermittent episodes of respi... |
ORPHA:98914 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Recurrent respiratory infections, Pulmonary hypoplasia, Respiratory insufficiency |
OMIM:255320 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Cyanosis, Stridor, Respiratory failure, Paroxysmal dyspnea, Failure to thrive |
ORPHA:444013 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory distress, Failure to thrive, Respiratory insufficiency due to muscle weakness |
OMIM:613561 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress, Hypoglycemia |
OMIM:614741 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Small for gestational age, Pneumonia, Episodic tachypnea, Overweight, Jaund... |
ORPHA:26793 |
Cyanosis, Transient Neonatal |
|
Jaundice, Cyanosis |
OMIM:613977 |
N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Failure to thrive |
OMIM:237310 |
Bronchial Neuroendocrine Tumor |
|
Pneumonia, Nonproductive cough, Dyspnea, Asthma, Wheezing, Abnormal pulmonary interstitial morpho... |
ORPHA:97287 |
Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
Achondrogenesis Type 2 |
|
Pulmonary hypoplasia, Cardiorespiratory arrest |
ORPHA:93296 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Apnea, Pulmonary hypoplasia, Decreased body weight, Neonatal death, Petechi... |
OMIM:608013 |
Relapsing Polychondritis |
|
Atelectasis, Dyspnea, Erythema, Cough, Abnormal pattern of respiration, Purpura |
ORPHA:728 |
Scimitar Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Abnormal lung morphology, Partial anomalo... |
ORPHA:185 |
Hereditary Bullous Dystrophy, Macular Type |
|
Acrocyanosis, Pneumonia |
ORPHA:1867 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Angioedema, Erythema, Upper airway obstruction, Urticaria |
ORPHA:100057 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Respiratory distress, Failure to thrive in infancy, Pulmonary fibrosis |
OMIM:612852 |
Myopathy And Diabetes Mellitus |
|
Respiratory distress, Type I diabetes mellitus |
ORPHA:2596 |
Mercury Poisoning |
|
Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure |
ORPHA:330021 |
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress |
OMIM:617977 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Failure to thrive, Death in childhood |
OMIM:615597 |
Double Outlet Left Ventricle |
|
Cyanosis, Patent ductus arteriosus, Pulmonary artery stenosis, Tachypnea, Failure to thrive |
ORPHA:3427 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress, Pneumothorax, Pulmonary hypoplasia |
OMIM:620306 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Cyanosis, Apnea, Hypoglycemia, Fasting hypoglycemia, Impaired gluconeogenesis |
OMIM:261680 |
Zygomycosis |
|
Sinusitis, Diabetes mellitus, Epistaxis, Atelectasis, Pneumothorax, Pulmonary infiltrates, Acute ... |
ORPHA:73263 |
Laryngeal Abductor Paralysis |
|
Stridor, Cyanosis |
OMIM:150260 |
Meckel Syndrome 14 |
|
Pneumothorax, Cyanosis, Pulmonary hypoplasia, Cardiorespiratory arrest |
OMIM:619879 |
Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress |
OMIM:615042 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Respiratory distress, Stillbirth, Pulmonary hypoplasia |
OMIM:151210 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis, Emphysema, Failure to... |
OMIM:242700 |
Atrial Septal Defect, Coronary Sinus Type |
|
Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous... |
ORPHA:99104 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Premature graying of hair, Emphysema, Pulmonary fibrosis, Type I diabetes mellitus |
OMIM:620365 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Ventilator dependence w... |
ORPHA:254864 |
Lymphatic Malformation 7 |
|
Respiratory distress, Pleural effusion, Chylothorax, Pulmonary edema |
OMIM:617300 |
Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis, Apnea |
ORPHA:1949 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Respiratory distress, Recurrent respiratory infections, Failure to thrive |
ORPHA:329178 |
Malaria |
|
Respiratory distress |
ORPHA:673 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia |
ORPHA:314655 |
Nephronophthisis 2 |
|
Respiratory failure, Pulmonary hypoplasia, Respiratory insufficiency |
OMIM:602088 |
Pulmonary Hypertension, Primary, 1 |
|
Increased pulmonary vascular resistance, Dyspnea, Pulmonary arterial medial hypertrophy, Pulmonar... |
OMIM:178600 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Pulmonary hypoplasia |
OMIM:601163 |
Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Cyanosis, Exertional dyspnea |
OMIM:250800 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Neonatal death, Pulmonary hypoplasia, Respiratory insufficiency |
OMIM:224410 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Asthma, Re... |
ORPHA:209905 |
Cleft Larynx, Posterior |
|
Aspiration, Cyanosis |
OMIM:215800 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Neonatal death, Stillbirth, Pulmonary hypoplasia |
OMIM:236500 |
Atrial Septal Defect, Ostium Secundum Type |
|
Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,... |
ORPHA:99103 |
Sepsis In Premature Infants |
|
Cyanosis, Small for gestational age, Abnormal mucociliary clearance, Dyspnea, Jaundice, Nasal fla... |
ORPHA:90051 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Death in infancy, Respiratory failure, Chylothorax, Death in childhood |
OMIM:620278 |
Diaphanospondylodysostosis |
|
Respiratory distress, Tracheomalacia, Pulmonary hypoplasia, Respiratory insufficiency |
OMIM:608022 |
Auriculocondylar Syndrome 2A |
|
Respiratory distress, Apnea |
OMIM:614669 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Respiratory distress, Small for gestational age, Hypoglycemia, Patent ductus arteriosus, Recurren... |
OMIM:607143 |
Ethylene Glycol Poisoning |
|
Cyanosis, Tachypnea, Episodic respiratory distress, Renal tubular epithelial necrosis, Abnormal p... |
ORPHA:31826 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Respiratory distress, Patent ductus arteriosus, Failure to thrive, Telangiectasia |
OMIM:608799 |
Pallister-Hall-Like Syndrome |
|
Death in infancy, Pulmonary hypoplasia |
OMIM:241800 |
Restrictive Dermopathy 2 |
|
Respiratory distress, Cyanosis |
OMIM:619793 |
Radio-Renal Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion |
ORPHA:3015 |
Thanatophoric Dysplasia |
|
Patent ductus arteriosus, Pulmonary hypoplasia, Respiratory insufficiency |
ORPHA:2655 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Cyanosis, Apnea, Pleural effusion, Neonatal hypoglycemia, Pulmonary edema |
OMIM:261740 |
Encephalopathy, Ethylmalonic |
|
Death in infancy, Failure to thrive, Acrocyanosis, Petechiae |
OMIM:602473 |
Toxic Epidermal Necrolysis |
|
Respiratory distress, Recurrent respiratory infections, Abnormal pleura morphology, Erythema, Wei... |
ORPHA:537 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress |
ORPHA:240085 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Glucose intolerance, Failure to thrive, Acrocyanosis, Impaired glucose tolerance |
OMIM:614407 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress, Failure to thrive |
ORPHA:261304 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure |
OMIM:614299 |
Interstitial Lung And Liver Disease |
|
Dyspnea, Intraalveolar phospholipid accumulation, Abnormal pulmonary interstitial morphology, Res... |
OMIM:615486 |
Achondroplasia |
|
Respiratory distress, Death in infancy, Upper airway obstruction, Pulmonary hypoplasia |
OMIM:100800 |
Carnitine Deficiency, Systemic Primary |
|
Respiratory distress, Impaired gluconeogenesis, Recurrent hypoglycemia, Failure to thrive |
OMIM:212140 |
Synaptic Congenital Myasthenic Syndromes |
|
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency, ... |
ORPHA:98915 |
Matthew-Wood Syndrome |
|
Abnormal lung morphology, Failure to thrive, Pulmonary hypoplasia |
ORPHA:2470 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Dyspnea, Cough |
ORPHA:86812 |
Poems Syndrome |
|
Diabetes mellitus, Respiratory insufficiency due to muscle weakness, Weight loss, Restrictive ven... |
ORPHA:2905 |
Stt3B-Cdg |
|
Respiratory distress, Failure to thrive |
ORPHA:370924 |
Tarp Syndrome |
|
Failure to thrive, Cyanosis, Apnea, Pulmonary hypoplasia |
ORPHA:2886 |
Mitochondrial Phosphate Carrier Deficiency |
|
Cyanosis, Respiratory insufficiency |
OMIM:610773 |
Nocardiosis |
|
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Emphysema, Pneum... |
ORPHA:31204 |
Congenital Laryngeal Web |
|
Respiratory distress, Stridor |
ORPHA:2374 |
Dermatomyositis |
|
Recurrent respiratory infections, Telangiectasia of the skin, Erythema, Abnormal pulmonary inters... |
ORPHA:221 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Pulmonary hypoplasia |
ORPHA:1486 |
Odontochondrodysplasia |
|
Respiratory distress, Death in infancy, Patent ductus arteriosus |
ORPHA:166272 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Respiratory distress, Recurrent respiratory infections |
OMIM:619383 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness |
ORPHA:1143 |
Truncus Arteriosus |
|
Cyanosis, Anomalous origin of one pulmonary artery from ascending aorta, Pulmonary artery stenosi... |
ORPHA:3384 |
Lethal Recessive Chondrodysplasia |
|
Respiratory distress |
ORPHA:1423 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, Dyspnea, Pulmonary edema |
OMIM:115197 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Cyanotic episode, Failure to thrive in infancy |
ORPHA:284417 |
Chand Syndrome |
|
Atelectasis |
ORPHA:1401 |
Q Fever |
|
Respiratory distress, Pneumonia, Abnormal pulmonary interstitial morphology, Weight loss, Cough, ... |
ORPHA:781 |
Folinic Acid-Responsive Seizures |
|
Respiratory distress, Apnea |
ORPHA:79097 |
Thanatophoric Dysplasia, Type I |
|
Neonatal death, Neonatal respiratory distress, Pulmonary hypoplasia |
OMIM:187600 |
Cutis Laxa, Autosomal Dominant 1 |
|
Prematurely aged appearance, Progeroid facial appearance, Poor wound healing, Dyspnea, Bronchiect... |
OMIM:123700 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Neonatal respiratory distress, Miscarriage, Respiratory infections in early life, Pulmonary hypop... |
ORPHA:96179 |
Histiocytoid Cardiomyopathy |
|
Cyanosis, Hypoglycemia, Tachypnea, Cough, Failure to thrive, Pulmonary edema |
ORPHA:137675 |
Fetal Akinesia Deformation Sequence |
|
Pulmonary hypoplasia, Respiratory insufficiency |
ORPHA:994 |
Common Variable Immunodeficiency |
|
Recurrent respiratory infections, Failure to thrive in infancy, Pneumonia, Bronchiectasis, Restri... |
ORPHA:1572 |
Thyroid Lymphoma |
|
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction |
ORPHA:97285 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Stillbirth, Abnormal lung lobation, Pulmonary hypoplasia |
OMIM:615415 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Cyanosis, Sudden episodic apnea, Respiratory insufficiency, Fasting hypoglycemia, Hypoketotic hyp... |
ORPHA:159 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Failure to thrive |
ORPHA:79312 |
Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Jaundic... |
OMIM:615512 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress |
ORPHA:240103 |
Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pa... |
OMIM:617303 |
22Q11.2 Deletion Syndrome |
|
Atelectasis, Asthma, Chronic pulmonary obstruction, Abnormal lung lobation, Obesity, Patent ductu... |
ORPHA:567 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Hypoglycemia, Dyspnea, A... |
ORPHA:348 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Glycosuria, Respiratory f... |
OMIM:220110 |
Cryptococcosis |
|
Respiratory distress, Pneumonia, Nodular pattern on pulmonary HRCT, Dyspnea, Cough, Pleural effusion |
ORPHA:1546 |
Serkal Syndrome |
|
Pulmonary hypoplasia |
ORPHA:139466 |
Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress, Failure to thrive |
OMIM:618201 |
Diaphanospondylodysostosis |
|
Respiratory distress |
ORPHA:66637 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Large for gestational age, Prolonged neonatal jaundice |
ORPHA:226313 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Patent ductus arteriosus, Neonatal respiratory distress, Pulmonary hypoplasia |
OMIM:616866 |
Severe Congenital Nemaline Myopathy |
|
Respiratory failure, Pulmonary hypoplasia |
ORPHA:171430 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... |
ORPHA:99125 |
Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Tachypnea, Weight loss |
ORPHA:79242 |
Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Cutis marmorata, Pulmonary embolism, Dyspnea, Angioedema, Asthma, Pulmonary... |
ORPHA:3260 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Sinusitis, Pneumonia, Respiratory tract infection, Tachypnea, Ecchymosis |
ORPHA:36234 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Abnormal lung lobation, Pulmonary hypoplasia |
OMIM:263210 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Severe failure to thrive, Patent ductus arteriosus, Cyanosis |
ORPHA:3304 |
Tonne-Kalscheuer Syndrome |
|
Pulmonary hypoplasia |
OMIM:300978 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Death in infancy, Inspiratory stridor, Irregular respiration |
OMIM:604377 |
Buerger Disease |
|
Acrocyanosis |
ORPHA:36258 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Pulmonary artery hypoplasia, Cyanosis |
ORPHA:2326 |
Oculocerebrorenal Syndrome Of Lowe |
|
Recurrent respiratory infections, Death in infancy, Atelectasis, Respiratory insufficiency, Failu... |
ORPHA:534 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Erythema, ... |
OMIM:614748 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Pulmonary arteriovenou... |
OMIM:187300 |
Congenital Enterovirus Infection |
|
Respiratory distress, Pleural effusion |
ORPHA:292 |
Mogs-Cdg |
|
Respiratory distress, Hypoventilation, Apnea, Pulmonary edema |
ORPHA:79330 |
Hsd10 Disease, Infantile Type |
|
Cyanosis, Hypoglycemia |
ORPHA:391428 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Respiratory failure, Type I diabetes mellitus |
OMIM:620166 |
Ethylmalonic Encephalopathy |
|
Failure to thrive, Acrocyanosis, Petechiae |
ORPHA:51188 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Failure to thrive |
ORPHA:927 |
Unilateral Polymicrogyria |
|
Cyanosis, Apnea, Epistaxis, Pulmonary arteriovenous malformation |
ORPHA:268943 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Pleural effusion, Small for gestational age, Pulmonary hypoplasia |
OMIM:616897 |
Cardiac Valvular Dysplasia 2 |
|
Central cyanosis, Pulmonary artery dilatation |
OMIM:620067 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Partial anomalous pulmonary venous return, Cyanosis, Death in infancy |
OMIM:617478 |
Renal Hypodysplasia/Aplasia 1 |
|
Pulmonary hypoplasia |
OMIM:191830 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Pulmonary arteriovenous ... |
OMIM:610655 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Respiratory distress, Failure to thrive |
ORPHA:544503 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory distress, Failure to thrive, Generalized abnormality of skin, Respiratory insufficiency |
ORPHA:367 |
Chiari Malformation Type Ii |
|
Cyanosis, Inspiratory stridor |
OMIM:207950 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Pulmonary artery atresia, Recurrent respiratory infections, Patent ductus arteriosus, Pulmonary h... |
OMIM:618316 |
Meier-Gorlin Syndrome 4 |
|
Emphysema, Failure to thrive |
OMIM:613804 |
Heterotaxy, Visceral, 7, Autosomal |
|
Pulmonary artery atresia, Pulmonary artery hypoplasia, Cyanosis, Total anomalous pulmonary venous... |
OMIM:616749 |
Cocaine Intoxication |
|
Respiratory distress, Diffuse alveolar hemorrhage, Hyperventilation, Wheezing, Pneumothorax, Tach... |
ORPHA:90068 |
Isolated Right Ventricular Hypoplasia |
|
Hypoxemia, Dyspnea, Cyanosis |
ORPHA:439 |
Meacham Syndrome |
|
Death in infancy, Patent ductus arteriosus, Partial anomalous pulmonary venous return, Cardiac to... |
OMIM:608978 |
Microphthalmia, Syndromic 9 |
|
Agenesis of pulmonary vessels, Patent ductus arteriosus, Alveolar capillary dysplasia, Respirator... |
OMIM:601186 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Recurrent infections due to aspiration, Decreased sensitivity to hypoxemia, Acrocyanosis |
OMIM:223900 |
Sarcoidosis, Susceptibility To, 1 |
|
Dyspnea, Bronchiectasis, Abnormal pulmonary interstitial morphology, Weight loss, Hypoxemia, Pleu... |
OMIM:181000 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:314390 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Respiratory insufficiency |
ORPHA:1145 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress, Failure to thrive, Hypoglycemia |
OMIM:251000 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Respiratory failure, Neonatal death, Palmoplantar cutis laxa... |
OMIM:616482 |
Aortic Arch Interruption |
|
Respiratory distress, Cyanosis, Patent ductus arteriosus, Tachypnea, Aortopulmonary window, Exert... |
ORPHA:2299 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Stridor, Failure to thrive |
OMIM:615595 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Failure to thrive in infancy, Pneumonia, ... |
ORPHA:37042 |
3-Methylglutaconic Aciduria, Type Viib |
|
Respiratory distress, Recurrent pneumonia, Neonatal hypoglycemia |
OMIM:616271 |
Hypoglossia With Situs Inversus |
|
Respiratory distress, Upper airway obstruction |
OMIM:612776 |
Alg3-Cdg |
|
Pulmonary hypoplasia |
ORPHA:79321 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Dyspnea, Respiratory failure, Failure to thrive |
ORPHA:2707 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Bilateral lung agenesis, Pulmonary artery stenosis, Congenital pulmonary airway malformation, Pul... |
OMIM:611812 |
Congenital Myopathy 22B, Severe Fetal |
|
Respiratory distress, Pleural effusion, Pulmonary hypoplasia |
OMIM:620369 |
Familial Dysautonomia |
|
Recurrent respiratory infections, Acrocyanosis, Abnormal pleura morphology |
ORPHA:1764 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Respiratory distress |
ORPHA:89844 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Pulmonary hypoplasia |
ORPHA:3035 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Respiratory distress, Pulmonary arterial hypertension, Failure to thrive |
OMIM:619272 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress |
ORPHA:289916 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Ecchymosis, Pleu... |
ORPHA:340 |
Osteogenesis Imperfecta, Type X |
|
Respiratory distress, Recurrent pneumonia, Chronic lung disease, Death in childhood |
OMIM:613848 |
Congenital Myopathy 17 |
|
Respiratory tract infection, Failure to thrive in infancy, Pulmonary hypoplasia, Respiratory insu... |
OMIM:618975 |
Hughes-Stovin Syndrome |
|
Pulmonary embolism, Dyspnea, Cardiorespiratory arrest, Cough, Pulmonary artery aneurysm, Pulmonar... |
ORPHA:228116 |
Craniofaciofrontodigital Syndrome |
|
Respiratory distress, Prominent superficial veins, Large for gestational age, Dyspnea, Patent duc... |
ORPHA:363705 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Miscarriage, Pulmonary hypoplasia, Respiratory insufficiency |
ORPHA:1865 |
1Q41Q42 Microdeletion Syndrome |
|
Pulmonary hypoplasia |
ORPHA:250999 |
Multiple Pterygium Syndrome, X-Linked |
|
Pulmonary hypoplasia |
OMIM:312150 |
Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Bilateral trilobed lung, Cyanosis, Patent ductus arteriosus, Total anomalou... |
OMIM:306955 |
Kagami-Ogata Syndrome |
|
Pulmonary arterial hypertension, Patent ductus arteriosus, Pulmonary hypoplasia |
OMIM:608149 |
Primary Dystonia, Dyt4 Type |
|
Respiratory distress, Eunuchoid habitus |
ORPHA:98805 |
Digeorge Syndrome |
|
Atelectasis, Asthma, Recurrent pneumonia, Chronic pulmonary obstruction, Obesity, Patent ductus a... |
OMIM:188400 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Telangiectasia of the skin, Prematurely aged appearance, Dyspnea, Pulmonary... |
ORPHA:3342 |
Platyspondylic Dysplasia, Torrance Type |
|
Pulmonary hypoplasia |
ORPHA:85166 |
Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Death in infancy, Small for gestational age, Emphysema, Failure to thrive |
OMIM:224690 |
Eosinophilic Fasciitis |
|
Acrocyanosis, Weight loss |
ORPHA:3165 |
Congenital Fibrinogen Deficiency |
|
Cyanosis, Bruising susceptibility, Subcutaneous hemorrhage |
ORPHA:335 |
Oromandibular Dystonia |
|
Respiratory distress, Weight loss |
ORPHA:93958 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cyanosis, Apnea |
OMIM:619580 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Respiratory distress, Recurrent respiratory infections, Patent ductus arteriosus |
OMIM:300968 |
Nasolacrimal Duct Cyst |
|
Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre... |
ORPHA:141083 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Death in infancy, Cyanosis, Apnea, Hypoglycemia, Respiratory insufficiency, Respiratory failure, ... |
OMIM:252010 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Failure to thrive, Pulmonary hypoplasia |
OMIM:615503 |
Mgat2-Cdg |
|
Respiratory distress, Recurrent upper and lower respiratory tract infections, Failure to thrive, ... |
ORPHA:79329 |
Dravet Syndrome |
|
Cyanotic episode |
ORPHA:33069 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hypoventilation, Cyanosis, Central hypoventilation, Asthma, Recurrent upper respiratory tract inf... |
ORPHA:293987 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Respiratory distress, Recurrent respiratory infections, Apnea, Hypoglycemia, Patent ductus arteri... |
ORPHA:17 |
Japanese Encephalitis |
|
Respiratory distress, Pulmonary edema, Respiratory paralysis, Abnormal pattern of respiration, Ir... |
ORPHA:79139 |
Multiple Pterygium Syndrome, Lethal Type |
|
Pulmonary hypoplasia |
OMIM:253290 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,... |
OMIM:600376 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Renal tubular epithelial necrosis, Strido... |
ORPHA:79404 |
Isolated Atp Synthase Deficiency |
|
Respiratory distress |
ORPHA:254913 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress |
OMIM:617102 |
Microcephaly-Micromelia Syndrome |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:251230 |
Mosaic Trisomy 16 |
|
Small for gestational age, Maternal diabetes, Patent ductus arteriosus, Abnormal lung morphology,... |
ORPHA:1708 |
Episodic Ataxia Type 1 |
|
Respiratory distress |
ORPHA:37612 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Respiratory distress, Death in infancy, Hypoglycemia, Jaundice, Failure to thrive |
OMIM:617156 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Recurrent respiratory infections, Death in infancy, Jaundice, Respiratory insufficiency, Pulmonar... |
OMIM:208500 |
Genitopatellar Syndrome |
|
Apnea, Pulmonary hypoplasia |
ORPHA:85201 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Pulmonary hypoplasia, Interstitial emphysema, Bronchiectasis |
OMIM:619708 |
Microlissencephaly-Micromelia Syndrome |
|
Respiratory distress, Failure to thrive |
ORPHA:50810 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Neonatal respiratory distress, Patent ductus arteriosus, Prolonged neonatal jaundice, Pulmonary h... |
OMIM:214100 |
Joubert Syndrome 21 |
|
Apnea, Dyspnea, Respiratory failure, Pulmonary hypoplasia, Chronic sinusitis |
OMIM:615636 |
Moebius Syndrome |
|
Respiratory distress |
OMIM:157900 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Recurrent respiratory infections, Patent ductus arteriosus, Stridor, Pulmon... |
ORPHA:505248 |
Infantile Krabbe Disease |
|
Respiratory distress, Respiratory failure, Failure to thrive, Cachexia |
ORPHA:206436 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Pulmonary hypoplasia |
ORPHA:86822 |
Criss-Cross Heart |
|
Cyanosis, Respiratory insufficiency |
ORPHA:1461 |
Distal Triplication 15Q |
|
Patent ductus arteriosus, Pulmonary hypoplasia, Large for gestational age |
ORPHA:314588 |
Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Cyanosis, Apnea, Respiratory insufficiency |
OMIM:617239 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cyanosis, Failure to thrive in infancy |
ORPHA:488627 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Patent ductus arteriosus, Respiratory failure requiring assisted ventilation, Elevated pulmonary ... |
OMIM:619351 |
Tetanus |
|
Respiratory distress, Tachypnea |
ORPHA:3299 |
Caudal Regression Syndrome |
|
Pulmonary hypoplasia, Maternal diabetes |
ORPHA:3027 |
Inhalational Anthrax |
|
Respiratory distress, Dyspnea |
ORPHA:247257 |
Rodrigues Blindness |
|
Ectodermal dysplasia, Nasal flaring |
OMIM:268320 |
Myotonic Dystrophy 1 |
|
Respiratory distress |
OMIM:160900 |
Thoracoabdominal Syndrome |
|
Patent ductus arteriosus, Pulmonary hypoplasia |
OMIM:313850 |
Renal Agenesis, Bilateral |
|
Nonketotic hypoglycemia, Pulmonary hypoplasia |
ORPHA:1848 |
Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Recurrent respiratory infections, Patent ductus arteriosus, Obesity |
ORPHA:177907 |
Teebi Hypertelorism Syndrome 1 |
|
Pulmonary hypoplasia |
OMIM:145420 |
Oligomeganephronia |
|
Pulmonary venous occlusion, Small for gestational age, Pulmonary hypoplasia |
ORPHA:2260 |
Meckel Syndrome, Type 6 |
|
Bilobed right lung, Pulmonary hypoplasia |
OMIM:612284 |
Listeriosis |
|
Respiratory distress, Miscarriage, Pneumonia, Jaundice, Respiratory failure |
ORPHA:533 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:263200 |
Coccidioidomycosis |
|
Respiratory distress, Pneumonia, Pulmonary infiltrates, Pleural empyema, Parenchymal consolidatio... |
ORPHA:228123 |
Myasthenia Gravis |
|
Dyspnea, Acrocyanosis, Glycosuria |
ORPHA:589 |
Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t... |
OMIM:164310 |
Hereditary Angioedema Type 1 |
|
Respiratory distress, Dyspnea, Urticaria, Dermatographic urticaria, Inspiratory stridor |
ORPHA:100050 |
Shwachman-Diamond Syndrome 1 |
|
Respiratory distress, Myocardial necrosis, Neonatal respiratory distress, Small for gestational a... |
OMIM:260400 |
Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis |
OMIM:250790 |
Postinfectious Vasculitis |
|
Palpable purpura, Cutis marmorata, Pneumonia, Weight loss, Vasculitis in the skin, Acrocyanosis, ... |
ORPHA:48435 |
Pachyonychia Congenita |
|
Respiratory distress, Failure to thrive |
ORPHA:2309 |
Tuberous Sclerosis Complex |
|
Respiratory distress, Respiratory tract infection, Respiratory failure, Generalized abnormality o... |
ORPHA:805 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Respiratory distress, Hypoglycemia, Jaundice, Hepatocellular necrosis, Recurrent hypoglycemia, Pr... |
OMIM:256810 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Patent ductus arteriosus, Small for gestational age, Pulmonary hypoplasia |
OMIM:619148 |
Marden-Walker Syndrome |
|
Pulmonary hypoplasia |
OMIM:248700 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Patent ductus arteriosus, Stillbirth, Pulmonary hypoplasia, Respiratory insufficiency |
OMIM:616300 |
Eisenmenger Syndrome |
|
Respiratory distress, Cyanosis, Increased pulmonary vascular resistance, Wheezing, Patent ductus ... |
ORPHA:97214 |
Stuve-Wiedemann Syndrome 1 |
|
Death in infancy, Apnea, Pulmonary arterial medial hypertrophy, Respiratory insufficiency, Pulmon... |
OMIM:601559 |
Czeizel-Losonci Syndrome |
|
Pulmonary hypoplasia |
ORPHA:2437 |
Acro-Renal-Mandibular Syndrome |
|
Abnormal lung lobation, Pulmonary hypoplasia |
ORPHA:958 |
Aicardi-Goutieres Syndrome 1 |
|
Erythema, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura |
OMIM:225750 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Pulmonary hypoplasia |
OMIM:612530 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Neonatal respiratory distress, Failure to thrive, Pulmonary hypoplasia |
ORPHA:2990 |
Kniest Dysplasia |
|
Respiratory distress, Tracheomalacia |
OMIM:156550 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Pulmonary arterial hypertension, Patent ductus arteriosus |
ORPHA:2519 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Respiratory distress, Jaundice, Prolonged neonatal jaundice |
OMIM:274150 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Urticaria, Erythema, Acrocyanosis, Purpura |
ORPHA:343 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Respiratory distress, Neonatal respiratory distress, Patent ductus arteriosus, Tracheomalacia |
OMIM:217980 |
Methylmalonic Aciduria, Cblb Type |
|
Respiratory distress, Failure to thrive |
OMIM:251110 |
Fucosidosis |
|
Failure to thrive, Acrocyanosis, Vascular skin abnormality |
ORPHA:349 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Pulmonary hypoplasia |
OMIM:614091 |
Congenital Disorder Of Deglycosylation 1 |
|
Respiratory distress, Recurrent respiratory infections, Decreased body weight |
OMIM:615273 |
Atelosteogenesis Type I |
|
Pulmonary hypoplasia |
ORPHA:1190 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Respiratory distress |
OMIM:271225 |
Adnp Syndrome |
|
Respiratory distress, Aspiration, Recurrent upper respiratory tract infections, Truncal obesity |
ORPHA:404448 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Respiratory distress |
OMIM:606164 |
Acrocephalopolydactylous Dysplasia |
|
Pulmonary hypoplasia, Extrapulmonary sequestrum |
OMIM:200995 |
Ramos-Arroyo Syndrome |
|
Respiratory distress, Patent ductus arteriosus, Severe failure to thrive, Decreased body weight |
ORPHA:1051 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Respiratory distress, Patent ductus arteriosus |
OMIM:612863 |
Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Apnea, Aspiration, Failure to thrive, Flushing |
ORPHA:2131 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Neonatal death, Patent ductus arteriosus, Pulmonary hypoplasia |
OMIM:208540 |
Achondrogenesis, Type Ia |
|
Stillbirth, Pulmonary hypoplasia |
OMIM:200600 |
Acquired Purpura Fulminans |
|
Acrocyanosis, Macular purpura |
ORPHA:49566 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Failure to thrive, Pulmonary hypoplasia |
ORPHA:83617 |
Campomelic Dysplasia |
|
Respiratory distress, Neonatal respiratory distress, Apnea, Recurrent upper respiratory tract inf... |
OMIM:114290 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Patent ductus arteriosus, Pulmonary hypoplasia, Large for gestational age |
OMIM:614080 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Respiratory distress, Small for gestational age, Neonatal insulin-dependent diabetes mellitus, Pu... |
ORPHA:2255 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Hypoglycemia, Pulmonary embolism, Jaundice, Pulmonary arterial hypertension... |
ORPHA:79282 |
Lethal Congenital Contracture Syndrome 10 |
|
Pulmonary hypoplasia |
OMIM:617022 |
Renal Agenesis |
|
Pulmonary hypoplasia |
ORPHA:411709 |
Leptospirosis |
|
Respiratory distress, Jaundice, Cough, Pleural effusion, Pulmonary hemorrhage |
ORPHA:509 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Neonatal respiratory distress, Aortopulmonary window, Pulmonary artery hypoplasia, Pulmonary hypo... |
OMIM:620025 |
Methylmalonic Aciduria, Cbla Type |
|
Respiratory distress, Failure to thrive |
OMIM:251100 |
Fontaine Progeroid Syndrome |
|
Reduced subcutaneous adipose tissue, Death in infancy, Prominent superficial veins, Prematurely a... |
OMIM:612289 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Respiratory distress |
ORPHA:990 |
Ulbright-Hodes Syndrome |
|
Respiratory distress, Maternal diabetes, Pneumothorax, Respiratory failure, Pulmonary hypoplasia |
ORPHA:3404 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Patent ductus arteriosus, Pulmonary hypoplasia |
ORPHA:1112 |
Pentalogy Of Cantrell |
|
Pulmonary hypoplasia |
ORPHA:1335 |
Raine Syndrome |
|
Neonatal death, Death in infancy, Pulmonary hypoplasia |
OMIM:259775 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Stillbirth, Erythema, Pulmonary hypoplasia |
OMIM:308050 |
Schinzel-Giedion Syndrome |
|
Respiratory distress, Recurrent pneumonia, Failure to thrive in infancy, Pulmonary hypoplasia |
ORPHA:798 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress |
OMIM:610536 |
Pagod Syndrome |
|
Death in infancy, Pulmonary artery hypoplasia, Abnormality of the pulmonary artery, Pulmonary hyp... |
ORPHA:991 |
Pitt-Hopkins Syndrome |
|
Failure to thrive, Acrocyanosis, Abnormal pattern of respiration, Hyperventilation |
ORPHA:2896 |
Spondyloepiphyseal Dysplasia Congenita |
|
Respiratory distress, Restrictive ventilatory defect |
OMIM:183900 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Respiratory distress |
ORPHA:438216 |
Atelosteogenesis Type Ii |
|
Tracheobronchomalacia, Pulmonary hypoplasia |
ORPHA:56304 |
Cardiac Valvular Dysplasia 1 |
|
Pulmonary artery atresia, Cyanosis |
OMIM:212093 |
Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Aspiration |
OMIM:618733 |
Mosaic Trisomy 1 |
|
Pulmonary artery atresia, Pulmonary hypoplasia |
ORPHA:1692 |
Hutchinson-Gilford Progeria Syndrome |
|
Prominent superficial blood vessels, Cyanosis, Insulin resistance, Upper airway obstruction, Weig... |
ORPHA:740 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Respiratory distress |
ORPHA:1555 |
Rubinstein-Taybi Syndrome 1 |
|
Respiratory distress, Small for gestational age, Respiratory tract infection, Patent ductus arter... |
OMIM:180849 |
Biotinidase Deficiency |
|
Respiratory distress, Apnea, Hyperventilation |
ORPHA:79241 |
Pfeiffer Syndrome Type 2 |
|
Respiratory distress, Tracheomalacia |
ORPHA:93259 |
Arboleda-Tham Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Patent duc... |
OMIM:616268 |
Lethal Congenital Contracture Syndrome 9 |
|
Pulmonary hypoplasia, Cardiorespiratory arrest |
OMIM:616503 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Palmoplantar cutis laxa, Respiratory distress |
OMIM:123790 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Renal tubula... |
ORPHA:95455 |
Otopalatodigital Syndrome Type 2 |
|
Failure to thrive, Pulmonary hypoplasia |
ORPHA:90652 |
Pfeiffer Syndrome Type 3 |
|
Respiratory distress, Tracheomalacia |
ORPHA:93260 |
Auriculocondylar Syndrome |
|
Respiratory distress |
ORPHA:137888 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Pulmonary artery atresia, Failure to thrive, Cyanosis, Patent ductus arteriosus |
ORPHA:216694 |
Diamond-Blackfan Anemia 10 |
|
Respiratory distress, Patent ductus arteriosus |
OMIM:613309 |
Fryns Syndrome |
|
Pulmonary hypoplasia |
ORPHA:2059 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Apnea, Dyspnea, Episodic respiratory distress, Failure to thrive, Hyperventilation |
ORPHA:255210 |
Hyperparathyroidism, Transient Neonatal |
|
Respiratory distress, Patent ductus arteriosus |
OMIM:618188 |
Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Pulmonary arterial hypertension, Patent ductus arteriosus |
ORPHA:210122 |
8Q24.3 Microdeletion Syndrome |
|
Respiratory distress, Patent ductus arteriosus, Abnormal lung lobation, Small for gestational age |
ORPHA:508488 |
Kasabach-Merritt Syndrome |
|
Respiratory distress, Hypopnea, Petechiae, Purpura |
ORPHA:2330 |
Greenberg Dysplasia |
|
Neonatal death, Stillbirth, Abnormal lung lobation, Pulmonary hypoplasia |
OMIM:215140 |
Ogden Syndrome |
|
Prematurely aged appearance, Apnea, Facial wrinkling, Maternal diabetes, Jaundice, Pulmonary arte... |
OMIM:300855 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:617925 |
Gitelman Syndrome |
|
Respiratory distress, Maternal diabetes, Insulin resistance, Glucose intolerance, Diabetic ketoac... |
ORPHA:358 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hypoventilation, Spontaneous pneumothorax, Jaundice, Recurrent pneumonia, Respiratory failure, Pu... |
ORPHA:731 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure, Failure to thrive |
ORPHA:2554 |
Fryns Syndrome |
|
Chylothorax, Stillbirth, Pulmonary hypoplasia, Large for gestational age |
OMIM:229850 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Pulmonary hypoplasia |
OMIM:271520 |
Vacterl With Hydrocephalus |
|
Pulmonary hypoplasia |
ORPHA:3412 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Neonatal respiratory distress, Pulmonary hypoplasia |
OMIM:265000 |
Distal Deletion 15Q |
|
Patent ductus arteriosus, Failure to thrive, Small for gestational age, Pulmonary hypoplasia |
ORPHA:1596 |
Meier-Gorlin Syndrome 7 |
|
Pulmonary hypoplasia, Decreased body weight |
OMIM:617063 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Pulmonary hypoplasia |
OMIM:616546 |
Neu-Laxova Syndrome |
|
Pulmonary hypoplasia |
ORPHA:2671 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Respiratory distress, Rhinitis, Hypohidrotic ectodermal dysplasia, Periorbital wrinkles |
OMIM:305100 |
Colchicine Poisoning |
|
Respiratory distress, Cardiorespiratory arrest |
ORPHA:31824 |
Alg9-Cdg |
|
Asthma, Abnormal lung lobation, Pulmonary hypoplasia |
ORPHA:79328 |
Restrictive Dermopathy 1 |
|
Prominent superficial blood vessels, Patent ductus arteriosus, Stillbirth, Pulmonary hypoplasia, ... |
OMIM:275210 |
Fetal Akinesia Deformation Sequence 1 |
|
Stillbirth, Small for gestational age, Pulmonary hypoplasia |
OMIM:208150 |
Mckusick-Kaufman Syndrome |
|
Pulmonary hypoplasia |
OMIM:236700 |
Blomstrand Lethal Chondrodysplasia |
|
Pulmonary hypoplasia |
ORPHA:50945 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Prominent scalp veins, Pulmonary hypoplasia, Respiratory insufficiency, Restrictive ventilatory d... |
ORPHA:536471 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Dyspnea, Erythema, Respiratory failure, Failure to thrive |
ORPHA:2556 |
Osteoglophonic Dysplasia |
|
Respiratory distress, Failure to thrive |
OMIM:166250 |
Neu-Laxova Syndrome 1 |
|
Patent ductus arteriosus, Yellow subcutaneous tissue covered by thin, scaly skin, Stillbirth, Pul... |
OMIM:256520 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Pulmonary hypoplasia |
OMIM:263520 |
Tetraamelia Syndrome 1 |
|
Peripheral pulmonary vessel aplasia, Pulmonary hypoplasia |
OMIM:273395 |
Smith-Lemli-Opitz Syndrome |
|
Cutis marmorata, Patent ductus arteriosus, Abnormal lung lobation, Pulmonary hypoplasia, Cutaneou... |
ORPHA:818 |
Orofaciodigital Syndrome Type 4 |
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Bilateral lung agenesis, Recurrent respiratory infections, Failure to thrive, Pulmonary hypoplasia |
ORPHA:2753 |
Acrorenal-Mandibular Syndrome |
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Pulmonary hypoplasia |
OMIM:200980 |
Smith-Lemli-Opitz Syndrome |
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Death in infancy, Patent ductus arteriosus, Abnormal lung lobation, Severe photosensitivity, Pulm... |
OMIM:270400 |
Plague |
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Acute infectious pneumonia, Respiratory distress |
ORPHA:707 |
Cardiac-Urogenital Syndrome |
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Tracheomalacia, Patent ductus arteriosus, Partial anomalous pulmonary venous return, Pulmonary hy... |
OMIM:618280 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
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Asthma, Nasal flaring, Obesity |
ORPHA:466943 |
Primary Hyperoxaluria |
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Failure to thrive, Acrocyanosis, Cutis marmorata |
ORPHA:416 |
Dpagt1-Cdg |
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Failure to thrive, Pulmonary hypoplasia |
ORPHA:86309 |
Doors Syndrome |
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Respiratory distress, Aspiration pneumonia |
ORPHA:79500 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
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Miscarriage, Large for gestational age, Pulmonary artery stenosis, Restrictive ventilatory defect... |
ORPHA:96334 |
Penile Agenesis |
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Bilateral lung agenesis, Pulmonary hypoplasia, Maternal diabetes |
ORPHA:49 |
Cleidocranial Dysplasia 1 |
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Respiratory distress, Neonatal respiratory distress |
OMIM:119600 |
Isolated Arrhinia |
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Respiratory distress |
ORPHA:1134 |
Generalized Arterial Calcification Of Infancy |
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Respiratory distress, Pulmonary arterial hypertension, Cyanosis, Failure to thrive in infancy |
ORPHA:51608 |
Aicardi-Goutières Syndrome |
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Diabetes mellitus, Acrocyanosis, Cutis marmorata, Prolonged neonatal jaundice |
ORPHA:51 |
Osteogenesis Imperfecta |
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Neonatal respiratory distress, Bruising susceptibility, Small for gestational age, Pulmonary hypo... |
ORPHA:666 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
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Respiratory distress, Recurrent upper and lower respiratory tract infections, Patent ductus arter... |
ORPHA:480880 |
Meckel Syndrome, Type 1 |
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Patent ductus arteriosus, Pulmonary hypoplasia |
OMIM:249000 |
Stüve-Wiedemann Syndrome |
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Respiratory distress, Asthma, Apnea |
ORPHA:3206 |
Hyperoxaluria, Primary, Type I |
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Acrocyanosis, Cutis marmorata |
OMIM:259900 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
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Respiratory distress, Failure to thrive, Recurrent pneumonia |
ORPHA:99646 |
Tetrasomy 9P |
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Pulmonary arterial hypertension, Jaundice, Pulmonary hypoplasia |
ORPHA:3310 |
Fraser Syndrome |
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Death in infancy, Abnormal lung lobation, Pulmonary hypoplasia |
ORPHA:2052 |
Restrictive Dermopathy |
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Patent ductus arteriosus, Pulmonary hypoplasia |
ORPHA:1662 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
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Respiratory distress, Patent ductus arteriosus |
OMIM:617088 |
Classical Ehlers-Danlos Syndrome |
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Prematurely aged appearance, Poor wound healing, Ecchymosis, Acrocyanosis, Fragile skin, Bruising... |
ORPHA:287 |
Alström Syndrome |
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Respiratory distress, Dorsocervical fat pad, Insulin resistance, Recurrent upper respiratory trac... |
ORPHA:64 |
Coffin-Lowry Syndrome |
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Acrocyanosis, Cutis marmorata, Decreased body weight |
OMIM:303600 |
Fraser Syndrome 1 |
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Pulmonary hypoplasia |
OMIM:219000 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
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Pulmonary hypoplasia, Respiratory insufficiency |
ORPHA:93271 |
Pmm2-Cdg |
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Respiratory distress, Abnormal subcutaneous fat tissue distribution, Insulin resistance, Hyperins... |
ORPHA:79318 |
Hypermobile Ehlers-Danlos Syndrome |
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Acrocyanosis, Apnea |
ORPHA:285 |
Genitopatellar Syndrome |
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Pulmonary hypoplasia |
OMIM:606170 |
Pallister-Killian Syndrome |
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Patent ductus arteriosus, Obesity, Apneic episodes in infancy, Stillbirth, Pulmonary hypoplasia, ... |
OMIM:601803 |
Craniofacial Microsomia 1 |
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Patent ductus arteriosus, Pulmonary hypoplasia |
OMIM:164210 |
Microphthalmia, Syndromic 1 |
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Pulmonary hypoplasia |
OMIM:309800 |