Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Small fo... |
ORPHA:70589 |
Asbestos Intoxication |
|
Reduced forced vital capacity, Nonproductive cough, Diffuse reticular or finely nodular infiltrat... |
ORPHA:2302 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Cyanosis, Type II pneumocyte hypertrophy, Desquamative interstitial pneumon... |
OMIM:263000 |
Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... |
OMIM:253240 |
Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... |
OMIM:615294 |
Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... |
OMIM:615872 |
Spinal Muscular Atrophy, Type I |
|
Recurrent respiratory infections, Ventricular septal defect, Respiratory insufficiency, Respirato... |
OMIM:253300 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Ground-glass opacification, Dys... |
OMIM:265120 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... |
OMIM:619466 |
Acute Interstitial Pneumonia |
|
Cyanosis, Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackle... |
ORPHA:79126 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in... |
ORPHA:60032 |
Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re... |
OMIM:616726 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e... |
OMIM:267450 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Atelectasis, Chronic sinusitis, Recurrent bronchitis |
OMIM:300455 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Abnormal pulmonary thoracic imaging finding, Crackles, Atelectasis, Hypersensitivity pneumonitis,... |
ORPHA:2902 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Abnormal pulmonary thoracic imaging finding, Atelectasis, Neonatal asphyxia... |
ORPHA:70588 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Crackles, Tachypnea, Cough, Atrial septal defect, Oxygen desaturation on ex... |
OMIM:610978 |
Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure, Pulmonary hypoplasia |
OMIM:619887 |
Immunodeficiency 95 |
|
Respiratory distress, Recurrent respiratory infections, Ground-glass opacification, Respiratory f... |
OMIM:619773 |
Infant Acute Respiratory Distress Syndrome |
|
Cyanosis, Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemi... |
ORPHA:70587 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... |
OMIM:610913 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Ground-glass opacification, Respiratory tract infection, Hypersensitivity pneumonitis, Nonproduct... |
ORPHA:79127 |
Familial Nasal Acilia |
|
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... |
ORPHA:922 |
Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... |
ORPHA:3348 |
Pneumocystosis |
|
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Nonproductive cough... |
ORPHA:723 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Ground-glass opacification, Non... |
ORPHA:1302 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Severe short stature, Small for gestational age, Growth delay, Res... |
OMIM:619057 |
Emphysema, Hereditary Pulmonary |
|
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis |
OMIM:130700 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Recurrent respiratory infections, Lung abscess, Cyanosis, Pneumonia, Dyspnea, Intraalveolar phosp... |
OMIM:610910 |
Bronchogenic Cyst |
|
Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneumonia, Abnormal pleura morpholog... |
ORPHA:2357 |
Tricuspid Atresia |
|
Atrial septal defect, Cyanosis, Ventricular septal defect, Hypoplasia of right ventricle, Transpo... |
ORPHA:1209 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Right ventricular dilatation, Restrictive ventilatory defect, Pneumonia, Right ventricular hypert... |
OMIM:253700 |
Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Apnea, Dextrocardia, S... |
ORPHA:2257 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Neonatal respiratory distress, Atrial situs ambiguous, Abnorm... |
ORPHA:244 |
C1Q Deficiency 2 |
|
Atelectasis, Bronchiectasis, Facial erythema, Vasculitis in the skin, Recurrent lower respiratory... |
OMIM:620321 |
High Altitude Pulmonary Edema |
|
Orthopnea, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough, Pulmonary opacity, Pulmonary... |
ORPHA:330012 |
Idiopathic Bronchiectasis |
|
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Cachexia, ... |
ORPHA:60033 |
Waardenburg Syndrome Type 3 |
|
Atrial septal defect, Atelectasis, Acrocyanosis, Tracheomalacia |
ORPHA:896 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Crackles, Ground-glass opacification, Atelectasis, Dyspnea, Asthma, Wheezing, Abnormal pulmonary ... |
OMIM:620233 |
Idiopathic Pulmonary Hemosiderosis |
|
Nodular pattern on pulmonary HRCT, Cardiomegaly, Diffuse alveolar hemorrhage, Crackles, Dyspnea, ... |
ORPHA:99931 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Chylopericardium, Growth delay, Pu... |
ORPHA:2414 |
Congenital Myopathy 21 With Early Respiratory Failure |
|
Dyspnea, Lipoid pneumonia, Respiratory failure, Nocturnal hypoventilation, Intrauterine growth re... |
OMIM:620326 |
Ciliary Dyskinesia, Primary, 5 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Recurren... |
OMIM:608647 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Aspiration pneu... |
ORPHA:90117 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:265430 |
Peripartum Cardiomyopathy |
|
Orthopnea, Left atrial enlargement, Crackles, Myocarditis, Dyspnea, Dilated cardiomyopathy, Asthm... |
ORPHA:563 |
Pontocerebellar Hypoplasia, Type 1C |
|
Respiratory failure, Failure to thrive, Respiratory insufficiency, Death in childhood |
OMIM:616081 |
Atrial Septal Defect, Ostium Primum Type |
|
Recurrent respiratory infections, Cyanosis, Left atrial enlargement, Dyspnea, Tachypnea, Abnormal... |
ORPHA:99106 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Cyanosis, Crazy paving pattern, Crackles, Dyspnea, Intraalveolar phospholipid accumulation, Weigh... |
ORPHA:747 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Cyanosis, Intercostal retractions, Ground-glass opacification, Reduced forc... |
ORPHA:91359 |
Laryngotracheoesophageal Cleft |
|
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Coug... |
ORPHA:2004 |
Congenital Tracheomalacia |
|
Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Atrial septal defect, Emphysema, Single ventri... |
ORPHA:95430 |
Bullous Dystrophy, Hereditary Macular Type |
|
Severe short stature, Acrocyanosis, Death in childhood |
OMIM:302000 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal pleura morphology, Respiratory insufficiency, Pulmonary infiltrates, Restrictive ventila... |
ORPHA:724 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Bronchiolitis, Atelectasis, Pulmonary fibrosis, Exertional dyspnea |
ORPHA:254361 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Right ventricular dilatation, Hypertrophic cardiomyopathy, Bronchiectasis |
OMIM:619705 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... |
ORPHA:1303 |
Allergic Bronchopulmonary Aspergillosis |
|
Asthma, Bronchiectasis, Respiratory insufficiency, Weight loss, Cough, Pulmonary arterial hyperte... |
ORPHA:1164 |
Pulmonary Capillary Hemangiomatosis |
|
Pulmonary edema, Cyanosis, Diffuse alveolar hemorrhage, Pericardial effusion, Pulmonary capillary... |
ORPHA:199241 |
Congenital Tricuspid Valve Dysplasia |
|
Respiratory failure requiring assisted ventilation, Cyanosis, Small for gestational age, Cardiome... |
ORPHA:555874 |
Acute Lung Injury |
|
Respiratory distress, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal pulmon... |
ORPHA:178320 |
Atrial Septal Defect, Sinus Venosus Type |
|
Dyspnea, Anomalous pulmonary venous return, Right ventricular dilatation, Exertional dyspnea, Pul... |
ORPHA:99105 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Pneumothorax, Tachypnea, Pulmonary... |
ORPHA:36238 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency |
OMIM:611722 |
Atrial Septal Defect, Coronary Sinus Type |
|
Unroofed coronary sinus, Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, A... |
ORPHA:99104 |
Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Atelectasis, Neonatal death, Death in infancy |
OMIM:300219 |
Immunodeficiency 54 |
|
Recurrent respiratory infections, Short stature, Postnatal growth retardation, Respiratory insuff... |
OMIM:609981 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... |
OMIM:615067 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Respiratory insufficiency due to muscle weakness, Respiratory failure, Death in adolescence |
OMIM:300717 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Recurrent upper respiratory tract infections, Restrictive ventilatory defect, Interstitial pneumo... |
OMIM:620296 |
Surfactant Metabolism Dysfunction, Pulmonary, 4 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Ground-glass opaci... |
OMIM:300770 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Neonatal respiratory distress, Patent foramen ovale, Pulmonary hypoplasia, Respiratory failure |
OMIM:616867 |
Neuralgic Amyotrophy |
|
Acrocyanosis, Short stature, Respiratory insufficiency |
ORPHA:2901 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Failure to thrive, Hypertrophic cardiomyopathy, Cyanosis |
ORPHA:91130 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death, Bilateral lung agenesis, Abnormal cardiac septum morphology, Respiratory insuffic... |
OMIM:601612 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Failure to thrive in infancy, Respiratory insufficiency due to muscle weakn... |
ORPHA:254875 |
Pulmonary Alveolar Microlithiasis |
|
Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Respiratory tract in... |
ORPHA:60025 |
Scedosporiosis |
|
Pericarditis, Sinusitis, Bronchial breath sound, Pneumonia, Bronchitis, Abnormal respiratory syst... |
ORPHA:449280 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency |
OMIM:613869 |
Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Right ventricular dilatation, Dyspnea, Pulmonary arterial hypertension |
ORPHA:422 |
Interstitial Lung Disease 1 |
|
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Gro... |
OMIM:619611 |
Chronic Beryllium Disease |
|
Lymphocytic interstitial pneumonia, Ground-glass opacification, Hypersensitivity pneumonitis, Dys... |
ORPHA:133 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B |
|
Neonatal death, Apnea, Pulmonary hypoplasia |
OMIM:615228 |
Atrial Septal Defect, Ostium Secundum Type |
|
Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,... |
ORPHA:99103 |
Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Dyspnea, Pulmonary infiltrates, Hypoxemia, Respiratory failure, Abnormal blood gas lev... |
ORPHA:70578 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce... |
ORPHA:266 |
Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Situs inversus totalis, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis,... |
OMIM:244400 |
Coronary Arterial Fistula |
|
Orthopnea, Bicuspid aortic valve, Cardiomegaly, Tachypnea, Abnormal heart morphology, Right ventr... |
ORPHA:2041 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Death in infancy, Cardiomegaly, Pulmonary hypoplasia, Death in childhood, Neonatal death, Hypertr... |
OMIM:614096 |
Pulmonary Hemosiderosis |
|
Recurrent intrapulmonary hemorrhage, Transient pulmonary infiltrates, Pulmonary fibrosis, Respira... |
OMIM:178550 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Alpha-1-Antitrypsin Deficiency |
|
Chronic bronchitis, Dyspnea, Panacinar emphysema, Chronic pulmonary obstruction, Wheezing, Bronch... |
OMIM:613490 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Cyanosis, Ventricular septal defect, Abnormal pulmonary ... |
ORPHA:860 |
Surfactant Metabolism Dysfunction, Pulmonary, 5 |
|
Ground-glass opacification, Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insuffi... |
OMIM:614370 |
Glycine Encephalopathy 2 |
|
Respiratory failure |
OMIM:620398 |
Developmental And Epileptic Encephalopathy 71 |
|
Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency |
OMIM:618328 |
Avian Influenza |
|
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Ground-glass opacification, Nonpr... |
ORPHA:454836 |
Perching Syndrome |
|
Respiratory distress, Cyanosis |
OMIM:617055 |
Atrial Fibrillation, Familial, 10 |
|
Right ventricular dilatation, Left ventricular hypertrophy, Left atrial enlargement |
OMIM:614022 |
Sarcoidosis, Susceptibility To, 2 |
|
Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphology, Pulmonary infi... |
OMIM:612387 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Neonatal respiratory distress, Cardiomyopathy, Pulmonary hypoplasia, Neonatal death, Pulmonary ar... |
OMIM:619003 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... |
ORPHA:217563 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Respiratory insufficiency, Restrictive ventilatory defect, Respiratory fail... |
OMIM:614399 |
Phosphoserine Aminotransferase Deficiency |
|
Death in infancy, Cyanotic episode, Apnea |
OMIM:610992 |
Larsen-Like Syndrome, Lethal Type |
|
Tracheomalacia, Neonatal death, Pulmonary hypoplasia, Respiratory insufficiency |
OMIM:245650 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum... |
ORPHA:2590 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Death in infancy, Ventricular septal defect, Apnea, Respiratory failure, Hypertrophic cardiomyopathy |
OMIM:616277 |
Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
Laryngotracheal Angioma |
|
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough |
ORPHA:137935 |
Seizures, Benign Familial Infantile, 3 |
|
Cyanosis, Apnea |
OMIM:607745 |
Butyrylcholinesterase Deficiency |
|
Respiratory failure requiring assisted ventilation, Respiratory failure |
ORPHA:132 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Respiratory failure, Intrauterine growth retardation |
ORPHA:1832 |
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Right ventricular dilatation, Restrictive ventilatory defect |
ORPHA:369847 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Respiratory failure, Short stature |
OMIM:600561 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Respiratory distress, Dysplastic tricuspid valve, Mitral valve prolapse, Right ventricular dilata... |
OMIM:612863 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Cyanosis, Stridor, Respiratory failure, Paroxysmal dyspnea, Left ventricular hypertrophy, Hypertr... |
ORPHA:444013 |
Hepatic Veno-Occlusive Disease |
|
Jaundice, Increased body weight, Respiratory failure |
ORPHA:890 |
Seizures, Benign Familial Infantile, 1 |
|
Cyanosis, Apnea |
OMIM:601764 |
Congenital Heart Block |
|
Cyanosis, Crackles, Pericardial effusion, Endocardial fibroelastosis, Intrauterine growth retarda... |
ORPHA:60041 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Right ventricular dilatation |
OMIM:615616 |
Choanal Atresia |
|
Respiratory distress, Recurrent respiratory infections, Cyanosis, Upper airway obstruction, Trach... |
ORPHA:137914 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Recurrent respiratory infections, Cardiomegaly, Atelectasis, Tachypnea, ... |
OMIM:618278 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Emphysema, Abnormal heart morphology |
OMIM:614100 |
Alpha-1-Antitrypsin Deficiency |
|
Emphysema, Jaundice |
ORPHA:60 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, F... |
ORPHA:264675 |
Nemaline Myopathy 8 |
|
Death in infancy, Respiratory failure |
OMIM:615348 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Growth delay, Respira... |
OMIM:245400 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Death in infancy, Progeroid facial appearance, Atelectasis, Recurrent pneumonia, Growth delay, Pu... |
OMIM:613177 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Recurrent respiratory infections, Death in infancy, Intraalveolar phospholipid accumulation, Resp... |
OMIM:618042 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Right ventricular dilatation, Restrictive ventilatory defect |
ORPHA:369840 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Atelectasis, Respiratory insufficiency, Cardiomyopathy, Respiratory failure, Pul... |
ORPHA:258 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Atelectasis, Generalized abnormality of skin, Recurrent respiratory infections, Cough |
ORPHA:2314 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Right ventricular dilatation |
OMIM:618920 |
Congenital Myopathy 14 |
|
Respiratory insufficiency due to muscle weakness, Death in infancy, Respiratory failure, Apnea |
OMIM:618414 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Cardiomegaly, Respirato... |
ORPHA:308552 |
Ciliary Dyskinesia, Primary, 30 |
|
Recurrent respiratory infections, Ventricular septal defect, Dextrocardia, Situs inversus totalis... |
OMIM:616037 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Respiratory insufficiency due to muscle weakness, Respiratory failure, Neonatal death |
OMIM:611890 |
Tracheal Agenesis |
|
Aplasia/Hypoplasia of the lungs, Abnormal cardiac septum morphology, Respiratory insufficiency |
ORPHA:3346 |
Cutis Laxa-Marfanoid Syndrome |
|
Emphysema, Abnormal heart valve morphology |
ORPHA:171719 |
Nephronophthisis 2 |
|
Situs inversus totalis, Respiratory failure, Pulmonary hypoplasia, Respiratory insufficiency |
OMIM:602088 |
Double Outlet Right Ventricle |
|
Failure to thrive, Cyanosis, Ventricular septal defect, Short stature, Tachypnea, Double outlet r... |
ORPHA:3426 |
Absence Of The Pulmonary Artery |
|
Recurrent respiratory infections, Orthopnea, Cyanosis, Abnormal pulmonary thoracic imaging findin... |
ORPHA:980 |
Farber Disease |
|
Respiratory distress, Short stature, Nodular pattern on pulmonary HRCT, Atelectasis, Recurrent up... |
ORPHA:333 |
Pontocerebellar Hypoplasia, Type 4 |
|
Death in infancy, Respiratory failure |
OMIM:225753 |
Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Emphysema, Facial erythema |
OMIM:618307 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Recurrent respiratory infections, Atrial septal defect, Cyanosis, Ventricular septal defect, Fail... |
ORPHA:99050 |
Lymphangioleiomyomatosis |
|
Recurrent respiratory infections, Atelectasis, Dyspnea, Pneumothorax, Chylopericardium, Pulmonary... |
ORPHA:538 |
Niemann-Pick Disease, Type C2 |
|
Death in infancy, Neonatal respiratory distress, Jaundice, Respiratory insufficiency, Death in ch... |
OMIM:607625 |
Alg9-Cdg |
|
Ventricular septal defect, Rhizomelia, Pericardial effusion, Asthma, Abnormal lung lobation, Abno... |
ORPHA:79328 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Neonatal death, Respiratory failure, Apnea, Respiratory insufficiency |
OMIM:610127 |
Complete Atrioventricular Septal Defect |
|
Cyanosis, Intercostal retractions, Crackles, Cardiomegaly, Complete atrioventricular canal defect... |
ORPHA:1329 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Respiratory failure, Severe short stature, Respiratory insufficiency |
OMIM:313420 |
Heterotaxy, Visceral, 7, Autosomal |
|
Atrial septal defect, Cyanosis, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atri... |
OMIM:616749 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Cyanosis, Ventricular septal defect, Failure to thrive, Cardiomegal... |
ORPHA:3427 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Respiratory failure, Ventricular septal defect, Pulmonary hypoplasia |
OMIM:617895 |
Microphthalmia, Syndromic 12 |
|
Neonatal death, Hypoplastic left atrium, Ventricular septal defect, Pulmonary hypoplasia |
OMIM:615524 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Orthopnea, Cardiomegaly, Respiratory tract infection, Atelectasis, Respirat... |
ORPHA:365 |
Bare Lymphocyte Syndrome, Type I |
|
Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Recurrent bronchitis |
OMIM:604571 |
Pulmonary Arteriovenous Malformation |
|
Cyanosis, Epistaxis, Dyspnea, Hemothorax, Telangiectasia, Hypoxemia, Pleural empyema, Bacterial e... |
ORPHA:2038 |
Obesity-Hypoventilation Syndrome |
|
Hypoventilation, Cyanosis, Obesity |
OMIM:257500 |
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
|
Emphysema, Short stature |
OMIM:210050 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Central apnea, Cyanosis |
ORPHA:71277 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Recurrent respiratory infections, Respiratory failure, Bruising susceptibility, Weight loss |
ORPHA:3226 |
Birt-Hogg-Dubé Syndrome |
|
Emphysema, Pneumothorax, Pulmonary sequestration |
ORPHA:122 |
Short-Rib Thoracic Dysplasia 12 |
|
Ventricular septal defect, Atelectasis, Respiratory insufficiency, Pulmonary hypoplasia, Neonatal... |
OMIM:269860 |
Muscular Dystrophy, Congenital, 1B |
|
Respiratory failure |
OMIM:604801 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Respiratory failure |
OMIM:616794 |
Hereditary Bullous Dystrophy, Macular Type |
|
Short stature, Pneumonia, Abnormal heart morphology, Growth delay, Acrocyanosis |
ORPHA:1867 |
Goodpasture Syndrome |
|
Cyanosis, Nodular pattern on pulmonary HRCT, Crackles, Ground-glass opacification, Increased DLCO... |
OMIM:233450 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Recurrent intrapulmonary hemorrhage, Cutis marmorata, Abnormal pericardium morphology, Abnormal p... |
ORPHA:183 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Reduced vital capacity, Pulmonary embolism, Increased pulmonary vascular resistance, Obesity, Rig... |
ORPHA:70591 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Respiratory failure, Dyspnea |
ORPHA:2759 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Respiratory failure |
OMIM:618637 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Short stature, Pneumonia, Bronchitis, Neonatal asphyxia, Recurrent p... |
ORPHA:420741 |
Hypophosphatasia |
|
Emphysema, Short stature, Failure to thrive in infancy, Respiratory insufficiency |
ORPHA:436 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Orthopnea, Reduced vital capacity, Cyanosis, Restrictive ventilatory defect, Respiratory failure,... |
ORPHA:98913 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Ventricula... |
ORPHA:209905 |
Lujo Hemorrhagic Fever |
|
Respiratory distress, Crackles, Myocarditis, Atelectasis, Nonproductive cough, Rhinitis, Ecchymos... |
ORPHA:319213 |
Hereditary Methemoglobinemia |
|
Cyanosis, Small for gestational age, Exertional dyspnea |
ORPHA:621 |
Tetrasomy 5P |
|
Respiratory distress, Recurrent respiratory infections, Cyanosis, Postnatal growth retardation, P... |
ORPHA:3309 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Death in infancy, Dilated cardiomyopathy, Tachypnea, Respiratory insufficie... |
OMIM:614299 |
Whim Syndrome |
|
Sinusitis, Pneumonia, Respiratory tract infection, Atelectasis, Recurrent upper respiratory tract... |
ORPHA:51636 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypertrophic cardiomyopathy, Failure to thrive, Respiratory failure, Abnormal heart morphology |
ORPHA:70472 |
Arthrogryposis Multiplex Congenita 6 |
|
Neonatal death, Death in infancy, Respiratory failure, Death in childhood |
OMIM:619334 |
Criss-Cross Heart |
|
Cyanosis, Ventricular septal defect, Tricuspid stenosis, Respiratory insufficiency, Transposition... |
ORPHA:1461 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Repeated pneumothoraces, Postnatal growth retardation, Atelectasis, Respira... |
ORPHA:536467 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea,... |
OMIM:618426 |
Hyperekplexia 4 |
|
Respiratory failure |
OMIM:618011 |
Relapsing Polychondritis |
|
Abnormal endocardium morphology, Pericarditis, Atelectasis, Myocarditis, Erythema, Dyspnea, Abnor... |
ORPHA:728 |
Truncus Arteriosus |
|
Atrial septal defect, Cyanosis, Ventricular septal defect, Anomalous origin of one pulmonary arte... |
ORPHA:3384 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Death in infancy, Hypertrophic cardiomyopathy, Respiratory failure |
OMIM:619386 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Respiratory failure, Respiratory insufficiency |
ORPHA:370968 |
Cyanosis, Transient Neonatal |
|
Jaundice, Cyanosis |
OMIM:613977 |
Benign Familial Infantile Epilepsy |
|
Cyanosis, Apnea |
ORPHA:306 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Small for gestational age, Tachypnea, Respiratory failure, Intrauterine growth retardation, Failu... |
OMIM:604320 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Death in infancy, Abnormal pulmonary valve morphology, Growth delay, Respiratory failure, Abnorma... |
ORPHA:1194 |
Vacterl Association With Hydrocephalus |
|
Respiratory failure, Stillbirth, Respiratory insufficiency, Abnormal heart morphology |
OMIM:276950 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Respiratory failure, Small for gestational age, Apneic episodes precipitated by illness, fatigue,... |
OMIM:312170 |
Lymphatic Malformation 12 |
|
Neonatal respiratory distress, Pleural thickening, Death in adolescence, Neonatal death, Recurren... |
OMIM:620014 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachypnea, Hypoxemia, Respiratory failure, Pleural effusion, Pulmonary edema |
ORPHA:542323 |
Mitochondrial Phosphate Carrier Deficiency |
|
Hypertrophic cardiomyopathy, Cyanosis, Respiratory insufficiency |
OMIM:610773 |
Congenital Diaphragmatic Hernia |
|
Hypoxemia, Pulmonary hypoplasia, Respiratory distress |
ORPHA:2140 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Death in infancy, Respiratory insufficiency, Respiratory failure, Neonatal death, Pulmonary arter... |
OMIM:605711 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Intrauterine growth retardation, Respiratory failure, Respiratory insufficiency |
OMIM:615330 |
Congenital Tracheal Stenosis |
|
Respiratory distress, Cyanosis, Ventricular septal defect, Neonatal asphyxia, Abnormal lung morph... |
ORPHA:141127 |
Pontocerebellar Hypoplasia Type 1 |
|
Respiratory failure, Failure to thrive, Congenital laryngeal stridor |
ORPHA:2254 |
Leigh Syndrome |
|
Respiratory failure, Failure to thrive, Abnormal pattern of respiration, Respiratory insufficiency |
OMIM:256000 |
Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
Intermediate Nemaline Myopathy |
|
Cardiomyopathy, Respiratory failure |
ORPHA:171433 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Recurrent respiratory infections, Pneumonia, Abnormal respiratory system physiology, Severe postn... |
ORPHA:98905 |
Malignant Atrophic Papulosis |
|
Telangiectasia of the skin, Abnormal pericardium morphology, Weight loss, Respiratory failure, Ab... |
ORPHA:679 |
Esophageal Atresia |
|
Respiratory distress, Recurrent respiratory infections, Cyanosis, Ventricular septal defect, Smal... |
ORPHA:1199 |
Pericardial And Diaphragmatic Defect |
|
Neonatal respiratory distress, Bicuspid aortic valve, Abnormal heart morphology, Hypoxemia, Pulmo... |
ORPHA:2847 |
Proximal Spinal Muscular Atrophy |
|
Hypoventilation, Neonatal respiratory distress, Recurrent infections due to aspiration, Respirato... |
ORPHA:70 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Neonatal death, Cachexia, Respiratory failure, Respiratory insufficiency |
OMIM:618186 |
Zygomycosis |
|
Pericarditis, Sinusitis, Epistaxis, Atelectasis, Myocarditis, Pneumothorax, Endocarditis, Pulmona... |
ORPHA:73263 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Neonatal respiratory distress, Apnea, Respiratory failure |
ORPHA:168486 |
Granulomatous Disease, Chronic, X-Linked |
|
Atelectasis, Recurrent pneumonia, Air bronchogram, Cough, Pleural effusion |
OMIM:306400 |
Severe Congenital Nemaline Myopathy |
|
Respiratory failure, Pulmonary hypoplasia |
ORPHA:171430 |
Cardiac Valvular Dysplasia 1 |
|
Atrial septal defect, Cyanosis, Ventricular septal defect, Left atrial enlargement, Tricuspid ste... |
OMIM:212093 |
Isolated Right Ventricular Hypoplasia |
|
Cyanosis, Cardiomegaly, Dyspnea, Muscular ventricular septal defect, Hypoxemia, Atrial septal def... |
ORPHA:439 |
Meckel Syndrome 14 |
|
Cyanosis, Pneumothorax, Cardiorespiratory arrest, Pulmonary hypoplasia, Single ventricle |
OMIM:619879 |
Cardiac Valvular Dysplasia 2 |
|
Bicuspid aortic valve, Central cyanosis, Pulmonic stenosis, Subvalvular aortic stenosis, Pulmonar... |
OMIM:620067 |
Mercury Poisoning |
|
Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure |
ORPHA:330021 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Respiratory insufficiency due to muscle weakness, Dyspnea, Respiratory failure, Dilated cardiomyo... |
ORPHA:352447 |
Laryngeal Abductor Paralysis |
|
Stridor, Cyanosis |
OMIM:150260 |
Cardiomyopathy, Dilated, 2H |
|
Secundum atrial septal defect, Muscular ventricular septal defect, Tachypnea, Cardiorespiratory a... |
OMIM:620203 |
Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Cyanosis, Short stature, Dilated cardiomyopathy, Growth delay, Pulmonary artery hypoplasia, Delay... |
ORPHA:2326 |
Tibial Muscular Dystrophy |
|
Cardiomyopathy, Respiratory failure |
ORPHA:609 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Respiratory failure, Apnea, Central hypoventilation |
OMIM:619483 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Death in infancy, Respiratory failure |
OMIM:618240 |
3-Methylglutaconic Aciduria Type 7 |
|
Growth delay, Cardiomyopathy, Respiratory failure, Pneumothorax |
ORPHA:445038 |
Sandestig-Stefanova Syndrome |
|
Small for gestational age, Muscular ventricular septal defect, Respiratory failure, Perimembranou... |
OMIM:618804 |
Congenital Myopathy 10B, Mild Variant |
|
Reduced forced vital capacity, Respiratory failure, Recurrent pneumonia |
OMIM:620249 |
Nocardiosis |
|
Respiratory distress, Pericarditis, Abnormal heart valve morphology, Pneumonia, Productive cough,... |
ORPHA:31204 |
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 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Growth delay, Cyanosis, Exertional dyspnea |
OMIM:250800 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Death in infancy, Cardiomyopathy, Respiratory failure, Stillbirth, Death in childhood, Neonatal d... |
OMIM:614922 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Death in infancy, Cyanosis, Ventricular septal defect, Partial anomalous pulmonary venous return,... |
OMIM:617478 |
Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defe... |
OMIM:306955 |
Congenital Fiber-Type Disproportion Myopathy |
|
Recurrent respiratory infections, Hypercapnia, Respiratory insufficiency due to muscle weakness, ... |
ORPHA:2020 |
Alg1-Cdg |
|
Cardiomyopathy, Respiratory failure, Abnormal heart morphology |
ORPHA:79327 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Respiratory failure |
OMIM:613435 |
Radio-Renal Syndrome |
|
Respiratory distress, Severe short stature, Dyspnea, Respiratory failure, Chylothorax, Pleural ef... |
ORPHA:3015 |
Viss Syndrome |
|
Atrial septal defect, Prominent superficial blood vessels, Failure to thrive, Ventricular septal ... |
OMIM:619472 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Failure to thrive, Respiratory failure, Tachypnea, Death in childhood |
OMIM:615838 |
Snakebite Envenomation |
|
Epistaxis, Angioedema, Erythema, Respiratory failure, Respiratory paralysis, Ecchymosis |
ORPHA:449285 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Cyanosis, Overriding aorta, Severe failure to thrive, Pulmonic stenosis, Atrial septal defect, Do... |
ORPHA:3304 |
Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Jaundic... |
OMIM:615512 |
Fanconi Renotubular Syndrome 5 |
|
Decreased DLCO, Emphysema, Pulmonary fibrosis, Lung adenocarcinoma |
OMIM:618913 |
Cleft Larynx, Posterior |
|
Aspiration, Cyanosis |
OMIM:215800 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Cyanosis, Apnea, Cardiomegaly, Pericardial effusion, Increased myocardial g... |
OMIM:261740 |
Acquired Methemoglobinemia |
|
Hypoxemia, Dyspnea, Cyanosis, Respiratory distress |
ORPHA:464453 |
Combined Oxidative Phosphorylation Deficiency 4 |
|
Death in infancy, Respiratory failure, Intrauterine growth retardation |
OMIM:610678 |
Neuromyelitis Optica Spectrum Disorder |
|
Respiratory failure |
ORPHA:71211 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Severe short stature, Rhizomelia, Disproportionate short sta... |
OMIM:616482 |
Encephalopathy, Ethylmalonic |
|
Death in infancy, Failure to thrive, Acrocyanosis, Petechiae |
OMIM:602473 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Death in infancy, Respiratory failure, Chylothorax, Death in childhood |
OMIM:620278 |
Congenital Fibrinogen Deficiency |
|
Cyanosis, Left ventricular hypertrophy, Bruising susceptibility, Subcutaneous hemorrhage, Right v... |
ORPHA:335 |
Lethal Congenital Contracture Syndrome 2 |
|
Respiratory failure, Dilated cardiomyopathy, Ventricular septal defect |
OMIM:607598 |
Metatropic Dysplasia |
|
Severe short stature, Disproportionate short-trunk short stature, Respiratory insufficiency, Resp... |
OMIM:156530 |
Bloom Syndrome |
|
Small for gestational age, Pneumonia, Bronchitis, Respiratory tract infection, Chronic pulmonary ... |
ORPHA:125 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Respiratory failure |
ORPHA:363400 |
Muscular Dystrophy, Duchenne Type |
|
Hypoventilation, Respiratory insufficiency due to muscle weakness, Dilated cardiomyopathy, Cardio... |
OMIM:310200 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis, Emphysema, Failure to... |
OMIM:242700 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Respiratory failure |
ORPHA:75840 |
Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis, Apnea |
ORPHA:1949 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Small for gestational age, Dilated cardiomyopathy, Respiratory insufficiency, Respiratory failure... |
OMIM:609015 |
Restrictive Dermopathy 2 |
|
Respiratory distress, Intrauterine growth retardation, Cyanosis |
OMIM:619793 |
22Q11.2 Deletion Syndrome |
|
Failure to thrive, Ventricular septal defect, Abnormal pulmonary valve morphology, Short stature,... |
ORPHA:567 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou... |
ORPHA:99125 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Intrauterine growth retardation, Cyanotic episode, Failure to thrive in infancy |
ORPHA:284417 |
Hypoadrenocorticism, Familial |
|
Cyanosis, Apnea |
OMIM:240200 |
Aortic Arch Interruption |
|
Respiratory distress, Cyanosis, Bicuspid aortic valve, Ventricular septal defect, Tachypnea, Aort... |
ORPHA:2299 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Restrictive ventilatory defect, Respiratory failure |
OMIM:606612 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Deat... |
OMIM:220110 |
Hypocomplementemic Urticarial Vasculitis |
|
Abnormal heart valve morphology, Pericardial effusion, Dyspnea, Angioedema, Emphysema, Restrictiv... |
ORPHA:36412 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... |
ORPHA:216694 |
Geleophysic Dysplasia 3 |
|
Dyspnea, Respiratory failure, Short stature, Pneumonia |
OMIM:617809 |
Scimitar Syndrome |
|
Respiratory distress, Abnormal lung morphology, Pulmonary artery hypoplasia, Cough, Atrial septal... |
ORPHA:185 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Reduced vital capacity, Respiratory failure, Nocturnal hypoventilation |
OMIM:603689 |
Cutis Laxa, Autosomal Dominant 1 |
|
Prematurely aged appearance, Ventricular septal defect, Poor wound healing, Progeroid facial appe... |
OMIM:123700 |
Dermatomyositis |
|
Recurrent respiratory infections, Pericarditis, Telangiectasia of the skin, Myocarditis, Erythema... |
ORPHA:221 |
Sepsis In Premature Infants |
|
Cyanosis, Small for gestational age, Abnormal mucociliary clearance, Dyspnea, Jaundice, Nasal fla... |
ORPHA:90051 |
Microphthalmia, Syndromic 9 |
|
Atrial septal defect, Severe short stature, Ventricular septal defect, Short stature, Agenesis of... |
OMIM:601186 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Telangiectasia of the skin, Prematurely aged appearance, Myocarditis, Pulmo... |
ORPHA:3342 |
Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Respiratory failure, Apnea, Central hypoventilation |
OMIM:618233 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Stridor, Respiratory failure, Short stature, Intercostal muscle weakness |
OMIM:606071 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Respiratory failure |
OMIM:613954 |
Tarp Syndrome |
|
Failure to thrive, Cyanosis, Apnea, Pulmonary hypoplasia, Atrial septal defect, Intrauterine grow... |
ORPHA:2886 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Small for gestational age, Respiratory failure, Short stature, Death in childhood |
OMIM:619847 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Short stature, Small for gestational age, Tachypnea, Abnormal pulmonary interstitial morphology, ... |
OMIM:613658 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Premature graying of hair, Emphysema, Pulmonary fibrosis |
OMIM:620365 |
Poems Syndrome |
|
Pericardial effusion, Respiratory insufficiency due to muscle weakness, Weight loss, Restrictive ... |
ORPHA:2905 |
Meier-Gorlin Syndrome 4 |
|
Short stature, Birth length less than 3rd percentile, Intrauterine growth retardation, Emphysema,... |
OMIM:613804 |
Buerger Disease |
|
Acrocyanosis |
ORPHA:36258 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Dyspnea, Growth delay, Respiratory failure, Failure to thrive |
ORPHA:2707 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cyanosis, Cardiomegaly |
ORPHA:391428 |
Chand Syndrome |
|
Atelectasis |
ORPHA:1401 |
Netherton Syndrome |
|
Recurrent respiratory infections, Short stature, Asthma, Urticaria, Emphysema |
ORPHA:634 |
Histiocytoid Cardiomyopathy |
|
Cyanosis, Ventricular septal defect, Cardiomegaly, Tachypnea, Cough, Failure to thrive, Pulmonary... |
ORPHA:137675 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Pulmonary arterial hypertension, Respiratory failure, Failure to thrive, Respiratory insufficiency |
OMIM:613845 |
3-Methylglutaconic Aciduria, Type Viii |
|
Death in infancy, Apnea, Jaundice, Hypopnea, Growth delay, Respiratory failure, Neonatal death, R... |
OMIM:617248 |
Oculocerebrorenal Syndrome Of Lowe |
|
Recurrent respiratory infections, Death in infancy, Short stature, Atelectasis, Respiratory insuf... |
ORPHA:534 |
Spinocerebellar Ataxia Type 1 |
|
Respiratory failure |
ORPHA:98755 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Central apnea, Respiratory failure, Respiratory insufficiency due to muscle weakness |
OMIM:618291 |
Ethylmalonic Encephalopathy |
|
Failure to thrive, Acrocyanosis, Petechiae |
ORPHA:51188 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Death in infancy, Neonatal respiratory distress, Apnea, Cardiomegaly, Dilated cardiomyopathy, Res... |
OMIM:608836 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Growth delay, Failure to thrive, Acrocyanosis |
OMIM:614407 |
Common Variable Immunodeficiency |
|
Recurrent respiratory infections, Failure to thrive in infancy, Pneumonia, Bronchiectasis, Restri... |
ORPHA:1572 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Respiratory failure, Short stature |
ORPHA:1861 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Death in infancy, Dyspnea, Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Respir... |
OMIM:610505 |
Bickerstaff Brainstem Encephalitis |
|
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... |
ORPHA:79138 |
Mitochondrial Trifunctional Protein Deficiency |
|
Failure to thrive in infancy, Respiratory insufficiency, Cardiomyopathy, Respiratory failure, Lef... |
ORPHA:746 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Growth delay, Respiratory failure requiring assisted ventilation, Respiratory failure, Recurrent ... |
ORPHA:496641 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Cardiomyopathy, Cyanosis, Sudden episodic apnea, Respiratory insufficiency |
ORPHA:159 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Respiratory failure |
OMIM:620166 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Dyspnea, Cardiorespiratory arrest, Abnormal heart morphology, Cardiomyopathy, Restrictive ventila... |
ORPHA:26791 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
Ethylene Glycol Poisoning |
|
Cyanosis, Tachypnea, Episodic respiratory distress, Abnormal pattern of respiration, Pulmonary edema |
ORPHA:31826 |
Lethal Acantholytic Erosive Disorder |
|
Cardiomegaly, Cardiomyopathy, Respiratory failure, Intrauterine growth retardation, Fragile skin |
ORPHA:158687 |
Meacham Syndrome |
|
Atrial septal defect, Death in infancy, Bicuspid aortic valve, Ventricular septal defect, Dextroc... |
OMIM:608978 |
Joubert Syndrome 21 |
|
Apnea, Dyspnea, Respiratory failure, Pulmonary hypoplasia, Chronic sinusitis |
OMIM:615636 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Respiratory failure |
OMIM:616505 |
Chiari Malformation Type Ii |
|
Cyanosis, Inspiratory stridor |
OMIM:207950 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Growth delay, Cardiomyopathy, Respiratory failure, Failure to thrive |
ORPHA:88618 |
Amyotrophic Lateral Sclerosis |
|
Dyspnea, Respiratory failure, Abnormal respiratory system physiology |
ORPHA:803 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Atrial septal defect, Intrauterine growth retardation, Respiratory failure, Patent foramen ovale |
OMIM:620327 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Respiratory failure, Failure to thrive, Short stature |
ORPHA:280210 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Ecchymosis, Pleu... |
ORPHA:340 |
Digeorge Syndrome |
|
Ventricular septal defect, Short stature, Atelectasis, Asthma, Recurrent pneumonia, Chronic pulmo... |
OMIM:188400 |
Boutonneuse Fever |
|
Respiratory failure, Petechiae |
ORPHA:83313 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Death in infancy, Cyanosis, Apnea, Concentric hypertrophic cardiomyopathy, Respiratory insufficie... |
OMIM:252010 |
Unilateral Polymicrogyria |
|
Cyanosis, Apnea, Epistaxis, Pulmonary arteriovenous malformation, Abnormal heart morphology |
ORPHA:268943 |
Nijmegen Breakage Syndrome |
|
Recurrent sinopulmonary infections, Recurrent respiratory infections, Short stature, Cachexia, Re... |
ORPHA:647 |
Sarcoidosis, Susceptibility To, 1 |
|
Pericardial effusion, Dyspnea, Emphysema, Bronchiectasis, Abnormal pulmonary interstitial morphol... |
OMIM:181000 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Recurrent infections due to aspiration, Decreased sensitivity to hypoxemia, Acrocyanosis, Growth ... |
OMIM:223900 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Pneumonia, Dyspnea, Dilated cardiomyopathy, Pneumothorax, Stridor, Growth d... |
ORPHA:79404 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Cyanosis, Apnea |
OMIM:261680 |
Fibrodysplasia Ossificans Progressiva |
|
Respiratory failure, Respiratory insufficiency |
OMIM:135100 |
Combined Oxidative Phosphorylation Deficiency 37 |
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Failure to thrive, Hypertrophic cardiomyopathy, Respiratory failure, Respiratory insufficiency |
OMIM:618329 |
Infantile Krabbe Disease |
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Respiratory distress, Respiratory failure, Failure to thrive, Cachexia |
ORPHA:206436 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
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Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Pulmonary arteriovenou... |
OMIM:187300 |
Listeriosis |
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Respiratory distress, Pericarditis, Miscarriage, Pneumonia, Myocarditis, Jaundice, Endocarditis, ... |
ORPHA:533 |
Eosinophilic Fasciitis |
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Acrocyanosis, Weight loss |
ORPHA:3165 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
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Bradypnea, Respiratory failure, Death in childhood |
OMIM:617186 |
Dravet Syndrome |
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Cyanotic episode |
ORPHA:33069 |
Familial Dysautonomia |
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Growth delay, Recurrent respiratory infections, Acrocyanosis, Abnormal pleura morphology |
ORPHA:1764 |
Aicardi-Goutieres Syndrome 1 |
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Short stature, Erythema, Cardiomyopathy, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Pu... |
OMIM:225750 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
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Death in infancy, Respiratory failure |
OMIM:614862 |
Leigh Syndrome |
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Ventricular septal defect, Growth delay, Respiratory failure, Intrauterine growth retardation, Hy... |
ORPHA:506 |
Costello Syndrome |
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Ventricular septal defect, Short stature, Tracheomalacia, Pneumothorax, Respiratory insufficiency... |
OMIM:218040 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
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Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Pulmonary arteriovenous ... |
OMIM:610655 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
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Cyanosis, Apnea |
OMIM:619580 |
Mitochondrial Complex I Deficiency, Nuclear Type 32 |
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Respiratory failure, Failure to thrive, Small for gestational age, Death in childhood |
OMIM:618252 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
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Hypoventilation, Cyanosis, Short stature, Central hypoventilation, Asthma, Recurrent upper respir... |
ORPHA:293987 |
Hyperimmunoglobulinemia D With Periodic Fever |
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Erythema, Urticaria, Growth delay, Acrocyanosis, Purpura |
ORPHA:343 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
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Cyanosis, Failure to thrive in infancy |
ORPHA:488627 |
Fucosidosis |
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Failure to thrive, Acrocyanosis, Vascular skin abnormality, Cardiomegaly |
ORPHA:349 |
Tuberous Sclerosis Complex |
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Respiratory distress, Respiratory tract infection, Cardiac rhabdomyoma, Respiratory failure, Gene... |
ORPHA:805 |
Autosomal Recessive Polycystic Kidney Disease |
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Hypoventilation, Spontaneous pneumothorax, Jaundice, Recurrent pneumonia, Growth delay, Respirato... |
ORPHA:731 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
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Growth delay, Respiratory failure |
ORPHA:3240 |
Osteopetrosis, Autosomal Recessive 5 |
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Growth delay, Respiratory failure, Stillbirth, Short stature |
OMIM:259720 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
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Ventricular hypertrophy, Mitral valve calcification, Emphysema, Premature graying of hair, Aortic... |
ORPHA:363618 |
Eisenmenger Syndrome |
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Respiratory distress, Cyanosis, Ventricular septal defect, Increased pulmonary vascular resistanc... |
ORPHA:97214 |
Myasthenic Syndrome, Congenital, 21, Presynaptic |
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Cyanosis, Apnea, Respiratory insufficiency |
OMIM:617239 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
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Ventricular septal defect, Miscarriage, Short stature, Large for gestational age, Postnatal growt... |
ORPHA:96334 |
Methemoglobinemia And Ambiguous Genitalia |
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Cyanosis |
OMIM:250790 |
Niemann-Pick Disease Type C |
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Abnormal lung morphology, Jaundice, Respiratory insufficiency, Pulmonary infiltrates, Respiratory... |
ORPHA:646 |
Neonatal Marfan Syndrome |
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Neonatal respiratory distress, Small for gestational age, Abnormal cardiac ventricle morphology, ... |
ORPHA:284979 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
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Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,... |
OMIM:600376 |
Ellis Van Creveld Syndrome |
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Failure to thrive, Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situ... |
ORPHA:289 |
Glycine Encephalopathy With Normal Serum Glycine |
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Respiratory failure, Apnea |
OMIM:617301 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
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Postnatal growth retardation, Intrauterine growth retardation, Respiratory failure |
ORPHA:254528 |
Fabry Disease |
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Conjunctival telangiectasia, Abnormal endocardium morphology, Telangiectasia of the skin, Angioke... |
ORPHA:324 |
Myhre Syndrome |
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Ventricular septal defect, Short stature, Small for gestational age, Pericardial effusion, Obesit... |
OMIM:139210 |
Postinfectious Vasculitis |
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Palpable purpura, Cutis marmorata, Pneumonia, Weight loss, Cardiomyopathy, Vasculitis in the skin... |
ORPHA:48435 |
Keutel Syndrome |
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Sinusitis, Ventricular septal defect, Recurrent bronchitis, Miscarriage, Pulmonary artery hypopla... |
OMIM:245150 |
Ulbright-Hodes Syndrome |
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Respiratory distress, Postnatal growth retardation, Pneumothorax, Birth length less than 3rd perc... |
ORPHA:3404 |
Microphthalmia With Linear Skin Defects Syndrome |
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Respiratory distress, Severe short stature, Dyspnea, Dilated cardiomyopathy, Erythema, Mitral val... |
ORPHA:2556 |
Cutis Laxa, Autosomal Recessive, Type Ia |
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Recurrent respiratory infections, Emphysema |
OMIM:219100 |
Acquired Purpura Fulminans |
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Acrocyanosis, Macular purpura |
ORPHA:49566 |
Meier-Gorlin Syndrome 6 |
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Recurrent respiratory infections, Severe short stature, Small for gestational age, Emphysema, Del... |
OMIM:616835 |
Poliomyelitis |
|
Respiratory failure requiring assisted ventilation, Respiratory failure |
ORPHA:2912 |
Autosomal Recessive Cutis Laxa Type 1 |
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Severe short stature, Dilatation of the ventricular cavity, Pneumothorax, Recurrent pneumonia, Re... |
ORPHA:90349 |
Hutchinson-Gilford Progeria Syndrome |
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Ventricular hypertrophy, Prominent superficial blood vessels, Cyanosis, Mitral stenosis, Mitral v... |
ORPHA:740 |
Ehlers-Danlos Syndrome, Vascular Type |
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Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... |
OMIM:130050 |
Ear-Patella-Short Stature Syndrome |
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Respiratory distress, Severe short stature, Dyspnea, Growth delay, Respiratory failure, Intrauter... |
ORPHA:2554 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Unilateral lung agenesis, Failure to thrive in infancy, Proportionate short stature, Abnormal hea... |
ORPHA:500150 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Respiratory failure |
OMIM:616538 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
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Atrial septal defect, Death in infancy, Respiratory failure, Large for gestational age |
OMIM:300868 |
Abetalipoproteinemia |
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Respiratory failure, Failure to thrive, Cardiomegaly |
ORPHA:14 |
Pitt-Hopkins Syndrome |
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Postnatal growth retardation, Growth delay, Acrocyanosis, Failure to thrive, Abnormal pattern of ... |
ORPHA:2896 |
Myasthenia Gravis |
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Dyspnea, Acrocyanosis |
ORPHA:589 |
Autosomal Dominant Cutis Laxa |
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Prematurely aged appearance, Postnatal growth retardation, Dilatation of the ventricular cavity, ... |
ORPHA:90348 |
Steinert Myotonic Dystrophy |
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Respiratory failure requiring assisted ventilation, Respiratory insufficiency due to muscle weakn... |
ORPHA:273 |
Primary Hyperoxaluria |
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Cardiomyopathy, Failure to thrive, Acrocyanosis, Cutis marmorata |
ORPHA:416 |
Otopalatodigital Syndrome, Type Ii |
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Short stature, Postnatal growth retardation, Respiratory insufficiency, Respiratory failure, Stil... |
OMIM:304120 |
Fraser Syndrome 2 |
|
Respiratory failure |
OMIM:617666 |
Generalized Arterial Calcification Of Infancy |
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Ventricular hypertrophy, Respiratory distress, Cyanosis, Failure to thrive in infancy, Cardiomega... |
ORPHA:51608 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
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Dyspnea, Respiratory failure, Severe short stature, Intrauterine growth retardation |
ORPHA:2636 |
Aicardi-Goutières Syndrome |
|
Cutis marmorata, Short stature, Cardiomegaly, Prolonged neonatal jaundice, Hypertrophic cardiomyo... |
ORPHA:51 |
Hyperoxaluria, Primary, Type I |
|
Acrocyanosis, Cutis marmorata |
OMIM:259900 |
Classical Ehlers-Danlos Syndrome |
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Prematurely aged appearance, Poor wound healing, Mitral valve prolapse, Tricuspid valve prolapse,... |
ORPHA:287 |
Coffin-Lowry Syndrome |
|
Acrocyanosis, Cutis marmorata, Short stature, Decreased body weight |
OMIM:303600 |
Hypermobile Ehlers-Danlos Syndrome |
|
Acrocyanosis, Apnea |
ORPHA:285 |
Benign Adult Familial Myoclonic Epilepsy |
|
|
ORPHA:86814 |