Renal Hypodysplasia/Aplasia 4 |
|
Pulmonary hypoplasia, Respiratory failure |
OMIM:619887 |
Pulmonary Hypoplasia, Primary |
|
Pulmonary hypoplasia, Neonatal death |
OMIM:265430 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B |
|
Pulmonary hypoplasia, Neonatal death, Apnea |
OMIM:615228 |
Larsen-Like Syndrome, Lethal Type |
|
Tracheomalacia, Respiratory insufficiency, Pulmonary hypoplasia, Neonatal death, Pulmonary insuff... |
OMIM:245650 |
Spinal Muscular Atrophy, Type I |
|
Respiratory insufficiency, Recurrent respiratory infections, Death in childhood, Respiratory failure |
OMIM:253300 |
Immunodeficiency 95 |
|
Recurrent respiratory infections, Respiratory distress, Recurrent viral pneumonia, Respiratory fa... |
OMIM:619773 |
Larynx Atresia |
|
Respiratory insufficiency, Recurrent respiratory infections |
ORPHA:1202 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Neonatal respiratory distress, Pulmonary arterial hypertension, Pulmonary hypoplasia, Cardiomyopa... |
OMIM:619003 |
Congenital Pulmonary Airway Malformation |
|
Respiratory insufficiency, Abnormal pleura morphology |
ORPHA:2444 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal respiratory distress, Pulmonary arterial hypertension, Dyspnea, Absent bronchoalveolar d... |
OMIM:265120 |
Renal Hypodysplasia/Aplasia 2 |
|
Pulmonary hypoplasia |
OMIM:615721 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Type II pneumocyte hypertrophy, Tachypnea, Desquamative interstitial pneumonitis, Cough, Respirat... |
OMIM:263000 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Death in childhood, Reduced left ventricular ejection fraction, Pulmonary hypoplasia, Death in in... |
OMIM:614096 |
Asbestos Intoxication |
|
Atelectasis, Hypoxemia, Reduced forced vital capacity, Reduced vital capacity, Respiratory failur... |
ORPHA:2302 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Desquamative interstitial pneumonitis, Usual interstitial pneumonia, Hypoxemia, Respiratory failu... |
OMIM:610921 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Desquamative interstitial pneumonitis, Hypoxemia, Reduced forced vital capacity, Respiratory fail... |
OMIM:610913 |
Ciliary Dyskinesia, Primary, 5 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Chronic bronchi... |
OMIM:608647 |
Infant Acute Respiratory Distress Syndrome |
|
Cardiac arrest, Atelectasis, Hypotension, Hypoxemia, Respiratory tract infection, Pulmonary edema... |
ORPHA:70587 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Restrictive ventilatory defect, Cough, Abnormal pleura morphology, Respiratory insufficiency, Abn... |
ORPHA:724 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Respiratory insufficiency, Bilateral lung agenesis, Neonatal death |
OMIM:601612 |
Interstitial Lung Disease 2 |
|
Alveolar cell carcinoma, Pulmonary arterial hypertension, Dyspnea, Decreased DLCO, Cough, Usual i... |
OMIM:178500 |
Tracheal Agenesis |
|
Respiratory insufficiency, Aplasia/Hypoplasia of the lungs |
ORPHA:3346 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Dyspnea, Aspiration pneumonia, Cough, Respiratory failure, Respiratory failure requiring assisted... |
ORPHA:90117 |
Cystic Hamartoma Of Lung And Kidney |
|
Respiratory insufficiency, Recurrent respiratory infections, Hypertension, Pulmonary fibrosis |
ORPHA:2111 |
Pulmonary Hemosiderosis |
|
Respiratory insufficiency, Recurrent intrapulmonary hemorrhage, Pulmonary fibrosis |
OMIM:178550 |
Pulmonary Venoocclusive Disease 1, Autosomal Dominant |
|
Pulmonary arterial hypertension, Interlobular septal thickening, Elevated jugular venous pressure... |
OMIM:265450 |
Lethal Congenital Contracture Syndrome 3 |
|
Respiratory insufficiency, Neonatal death |
OMIM:611369 |
Bronchopulmonary Dysplasia |
|
Dyspnea, Abnormal respiratory system physiology, Atelectasis, Right ventricular failure, Cough, T... |
ORPHA:70589 |
Congenital Diaphragmatic Hernia |
|
Respiratory distress, Pulmonary hypoplasia, Hypoxemia |
ORPHA:2140 |
Ciliary Dyskinesia, Primary, 44 |
|
Neonatal respiratory distress, Reduced forced expiratory volume in one second, Reduced forced vit... |
OMIM:618781 |
Pulmonary Venoocclusive Disease 2, Autosomal Recessive |
|
Pulmonary capillary hemangiomatosis, Pulmonary arterial hypertension, Dyspnea, Decreased DLCO, Co... |
OMIM:234810 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Respiratory insufficiency, Central apnea, Death in infancy, Respiratory failure |
OMIM:611722 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Pulmonary hypoplasia |
OMIM:613124 |
Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Chronic sinusitis, Atelectasis, Decreased nasal nitric oxide, Recu... |
OMIM:615294 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Aspiration pneumonia, Respiratory failure |
OMIM:619057 |
Pneumocystosis |
|
Dyspnea, Interstitial pneumonitis, Respiratory failure requiring assisted ventilation, Respirator... |
ORPHA:723 |
Encephalopathy Due To Prosaposin Deficiency |
|
Respiratory insufficiency, Recurrent respiratory infections, Death in infancy |
ORPHA:139406 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Respiratory insufficiency, Death in infancy, Respiratory failure, Apnea |
OMIM:613869 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Neonatal respiratory distress, Pulmonary hypoplasia, Respiratory failure |
OMIM:616867 |
Acute Interstitial Pneumonia |
|
Reticulonodular pattern on pulmonary HRCT, Dyspnea, Tachypnea, Atelectasis, Decreased DLCO, Inter... |
ORPHA:79126 |
Microphthalmia, Syndromic 12 |
|
Pulmonary hypoplasia, Neonatal death |
OMIM:615524 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Pulmonary hypoplasia, Abnormal lung lobation |
ORPHA:2631 |
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 |
Lethal Congenital Contracture Syndrome 11 |
|
Pulmonary hypoplasia |
OMIM:617194 |
Butyrylcholinesterase Deficiency |
|
Myocardial infarction, Congestive heart failure, Respiratory failure, Respiratory failure requiri... |
ORPHA:132 |
Acute Lung Injury |
|
Dyspnea, Tachypnea, Diffuse alveolar hemorrhage, Hypoxemia, Respiratory distress, Pneumonia, Resp... |
ORPHA:178320 |
Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Neonatal respiratory distress, Tachypnea, Restrictive ventilato... |
ORPHA:2257 |
Nphp3-Related Meckel-Like Syndrome |
|
Pulmonary hypoplasia |
ORPHA:3032 |
Ciliary Dyskinesia, Primary, 42 |
|
Chronic pulmonary obstruction, Nasal polyposis, Respiratory insufficiency, Chronic rhinitis, Decr... |
OMIM:618695 |
Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Chronic sinusitis, Atelectasis, Chronic pulmonary obstruction, ... |
OMIM:253240 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Pulmonary hypoplasia |
OMIM:616531 |
Renal Tubular Dysgenesis |
|
Respiratory insufficiency, Pulmonary hypoplasia, Hypotension |
OMIM:267430 |
Pontocerebellar Hypoplasia, Type 1C |
|
Respiratory insufficiency, Death in childhood, Respiratory failure |
OMIM:616081 |
Developmental And Epileptic Encephalopathy 71 |
|
Respiratory insufficiency, Cheyne-Stokes respiration, Respiratory failure |
OMIM:618328 |
Recurrent Respiratory Papillomatosis |
|
Tracheomalacia, Dyspnea, Tachypnea, Atelectasis, Respiratory insufficiency, Syncope, Nonproductiv... |
ORPHA:60032 |
Allergic Bronchopulmonary Aspergillosis |
|
Pulmonary arterial hypertension, Respiratory insufficiency, Cough, Bronchiectasis, Emphysema, Asthma |
ORPHA:1164 |
Renal Tubular Dysgenesis |
|
Pulmonary hypoplasia |
ORPHA:3033 |
Surfactant Metabolism Dysfunction, Pulmonary, 5 |
|
Dyspnea, Respiratory insufficiency, Interlobular septal thickening, Intraalveolar phospholipid ac... |
OMIM:614370 |
Ciliary Dyskinesia, Primary, 23 |
|
Neonatal respiratory distress, Productive cough, Chronic bronchitis, Chronic rhinitis, Respirator... |
OMIM:615451 |
Spondylospinal Thoracic Dysostosis |
|
Pulmonary hypoplasia |
OMIM:601809 |
Atelosteogenesis, Type Ii |
|
Respiratory insufficiency, Pulmonary hypoplasia, Stillbirth, Death in infancy |
OMIM:256050 |
Respiratory Distress Syndrome In Premature Infants |
|
Neonatal respiratory distress, Dyspnea, Atelectasis, Respiratory distress, Pulmonary edema, Tachy... |
OMIM:267450 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Abnormal respiratory system physiology, Respiratory insufficiency, Reduced maximal inspiratory pr... |
ORPHA:266 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Pulmonary hypoplasia, Hypertension |
OMIM:616733 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Death in childhood, Recurrent respiratory infections, Death in adolescence, Respiratory insuffici... |
OMIM:618042 |
Ciliary Dyskinesia, Primary, 11 |
|
Neonatal respiratory distress, Recurrent respiratory infections, Chronic bronchitis, Chronic rhin... |
OMIM:612649 |
Lethal Congenital Contracture Syndrome 1 |
|
Pulmonary hypoplasia, Neonatal death |
OMIM:253310 |
Ciliary Dyskinesia, Primary, 28 |
|
Neonatal respiratory distress, Recurrent respiratory infections, Chronic bronchitis, Respiratory ... |
OMIM:615505 |
Nephronophthisis 2 |
|
Respiratory insufficiency, Pulmonary hypoplasia, Hypertension, Pulmonary insufficiency, Respirato... |
OMIM:602088 |
Idiopathic Pulmonary Hemosiderosis |
|
Dyspnea, Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Restrictive ventilator... |
ORPHA:99931 |
Staphylococcal Necrotizing Pneumonia |
|
Dyspnea, Tachypnea, Hypotension, Cough, Hypoxemia, Nonproductive cough, Respiratory distress, Ple... |
ORPHA:36238 |
Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... |
OMIM:615872 |
Adult Acute Respiratory Distress Syndrome |
|
Vasculitis, Dyspnea, Hypotension, Hypoxemia, Abnormal blood gas level, Pulmonary edema, Pneumonia... |
ORPHA:70578 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Respiratory insufficiency, Recurrent respiratory infections |
ORPHA:2432 |
Congenital Myopathy 14 |
|
Respiratory insufficiency due to muscle weakness, Death in infancy, Respiratory failure, Apnea |
OMIM:618414 |
Chronic Beryllium Disease |
|
Reticulonodular pattern on pulmonary HRCT, Dyspnea, Abnormal respiratory system physiology, Reduc... |
ORPHA:133 |
Ciliary Dyskinesia, Primary, 27 |
|
Neonatal respiratory distress, Recurrent respiratory infections, Chronic sinusitis, Chronic bronc... |
OMIM:615504 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Neonatal respiratory distress, Recurrent respiratory infections, Cough, Decreased nasal nitric ox... |
OMIM:300991 |
Ciliary Dyskinesia, Primary, 30 |
|
Recurrent respiratory infections, Chronic sinusitis, Nasal polyposis, Respiratory insufficiency, ... |
OMIM:616037 |
Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Pulmonary edema, Elevated pulmonary artery pressure |
OMIM:178400 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Respiratory insufficiency, Recurrent respiratory infections, Pulmonary hypoplasia |
OMIM:255320 |
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency |
|
Miscarriage, Pulmonary embolism |
ORPHA:82 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Pulmonary hypoplasia |
ORPHA:2141 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Stillbirth, Pulmonary hypoplasia |
OMIM:617468 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Ventilator dependence with inability to wean, Respiratory insufficiency, Respiratory insufficienc... |
ORPHA:254875 |
Achondrogenesis Type 2 |
|
Pulmonary hypoplasia, Cardiorespiratory arrest |
ORPHA:93296 |
Ciliary Dyskinesia, Primary, 3 |
|
Neonatal respiratory distress, Recurrent respiratory infections, Decreased nasal nitric oxide, Br... |
OMIM:608644 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Pulmonary hypoplasia |
OMIM:618174 |
Scedosporiosis |
|
Bronchitis, Pleuritis, Abnormal respiratory system physiology, Cough, Pulmonary fibrosis, Sinusit... |
ORPHA:449280 |
Congenital Tracheomalacia |
|
Intercostal retractions, Productive cough, Pneumothorax, Pulmonary arterial hypertension, Dyspnea... |
ORPHA:95430 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Respiratory insufficiency due to muscle weakness, Recurrent aspiration pneumonia, Respiratory fai... |
ORPHA:2590 |
Antithrombin Iii Deficiency |
|
Arterial occlusion, Pulmonary embolism |
OMIM:613118 |
Nemaline Myopathy 8 |
|
Death in infancy, Respiratory failure |
OMIM:615348 |
Pericardial And Diaphragmatic Defect |
|
Neonatal respiratory distress, Palpitations, Pulmonary hypoplasia, Hypoxemia, Pulmonary sequestra... |
ORPHA:2847 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Neonatal respiratory distress, Chronic sinusitis, Wheezing, A... |
ORPHA:244 |
Ciliary Dyskinesia, Primary, 26 |
|
Neonatal respiratory distress, Recurrent respiratory infections, Chronic bronchitis, Respiratory ... |
OMIM:615500 |
Heparin-Induced Thrombocytopenia |
|
Abnormal onset of bleeding, Myocardial infarction, Pulmonary embolism, Cerebral ischemia |
ORPHA:3325 |
Ciliary Dyskinesia, Primary, 15 |
|
Neonatal respiratory distress, Recurrent respiratory infections, Chronic sinusitis, Abnormal axon... |
OMIM:613808 |
Alpha-2-Plasmin Inhibitor Deficiency |
|
Persistent bleeding after trauma, Bruising susceptibility, Hemothorax, Joint hemorrhage |
OMIM:262850 |
Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Bronchitis, Atelectasis, Respiratory insufficiency, Productive ... |
ORPHA:3348 |
Congenital Alpha2-Antiplasmin Deficiency |
|
Gingival bleeding, Bruising susceptibility, Persistent bleeding after trauma, Intracranial hemorr... |
ORPHA:79 |
Thrombophilia Due To Thrombomodulin Defect |
|
Pulmonary embolism |
OMIM:614486 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Stillbirth, Pulmonary hypoplasia, Neonatal death |
OMIM:236500 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Respiratory insufficiency, Pulmonary hypoplasia, Neonatal death |
OMIM:224410 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Death in infancy, Apnea, Respiratory failure, Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616277 |
Ciliary Dyskinesia, Primary, 9 |
|
Neonatal respiratory distress, Chronic sinusitis, Cough, Chronic rhinitis, Decreased nasal nitric... |
OMIM:612444 |
Ciliary Dyskinesia, Primary, 32 |
|
Neonatal respiratory distress, Recurrent respiratory infections, Chronic sinusitis, Chronic pulmo... |
OMIM:616481 |
Thrombophilia, X-Linked, Due To Factor Viii Defect |
|
Pulmonary embolism |
OMIM:301071 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Pulmonary arterial hypertension, Tachypnea, Spontaneous neonatal p... |
ORPHA:217563 |
Immunodeficiency 54 |
|
Respiratory insufficiency, Recurrent respiratory infections, Respiratory failure |
OMIM:609981 |
Ciliary Dyskinesia, Primary, 24 |
|
Neonatal respiratory distress, Chronic pulmonary obstruction, Chronic rhinitis, Decreased nasal n... |
OMIM:615481 |
Ciliary Dyskinesia, Primary, 34 |
|
Neonatal respiratory distress, Chronic rhinitis, Decreased nasal nitric oxide, Absent central mic... |
OMIM:617091 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:1832 |
Congenital Myopathy 10A, Severe Variant |
|
Restrictive ventilatory defect, Respiratory distress, Respiratory insufficiency, Respiratory failure |
OMIM:614399 |
Pontocerebellar Hypoplasia, Type 4 |
|
Death in infancy, Respiratory failure |
OMIM:225753 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Pulmonic stenosis, Pulmonary hypoplasia, Stillbirth, Aortic valve stenosis, Hypertrophic cardiomy... |
OMIM:615415 |
Avian Influenza |
|
Miscarriage, Dyspnea, Tachypnea, Cough, Productive cough, Hypoxemia, Nonproductive cough, Respira... |
ORPHA:454836 |
Ciliary Dyskinesia, Primary, 18 |
|
Neonatal respiratory distress, Chronic bronchitis, Respiratory insufficiency due to defective cil... |
OMIM:614874 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Pulmonary hypoplasia, Respiratory failure |
OMIM:617895 |
Ciliary Dyskinesia, Primary, 14 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic sinusitis, Wheezing, Abn... |
OMIM:613807 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Tachypnea, Restrictive ventilatory defect, Cough, Hypoxemia, Crazy paving pattern, Respiratory di... |
ORPHA:264675 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Respiratory insufficiency due to muscle weakness, Respiratory failure, Neonatal death |
OMIM:611890 |
Peripartum Cardiomyopathy |
|
Myocarditis, Reduced left ventricular ejection fraction, Paroxysmal dyspnea, Respiratory failure,... |
ORPHA:563 |
Sarcoidosis, Susceptibility To, 2 |
|
Pulmonary arterial hypertension, Dyspnea, Restrictive ventilatory defect, Hypoxemia, Pulmonary fi... |
OMIM:612387 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Respiratory insufficiency, Respiratory failure, Neonatal death, Apnea |
OMIM:610127 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Respiratory failure |
OMIM:600561 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Congestive heart failure, Respiratory failure |
OMIM:616794 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Pulmonary hypoplasia |
OMIM:601163 |
Meconium Aspiration Syndrome |
|
Pulmonary arterial hypertension, Aspiration pneumonia, Abnormal heart rate variability, Atelectas... |
ORPHA:70588 |
Familial Nasal Acilia |
|
Chronic sinusitis, Dyspnea, Atelectasis, Chronic rhinitis, Respiratory distress, Bronchiectasis, ... |
ORPHA:922 |
Ciliary Dyskinesia, Primary, 25 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, P... |
OMIM:615482 |
Scimitar Syndrome |
|
Recurrent respiratory infections, Pulmonary arterial hypertension, Cough, Heart block, Pulmonary ... |
ORPHA:185 |
Pulmonary Capillary Hemangiomatosis |
|
Pulmonary capillary hemangiomatosis, Dyspnea, Diffuse alveolar hemorrhage, Decreased DLCO, Interl... |
ORPHA:199241 |
Pulmonary Hypertension, Primary, 1 |
|
Elevated right atrial pressure, Pulmonary arterial hypertension, Dyspnea, Cough, Hypertension, Pu... |
OMIM:178600 |
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant |
|
Pulmonary embolism |
OMIM:176860 |
Thanatophoric Dysplasia |
|
Respiratory insufficiency, Pulmonary hypoplasia |
ORPHA:2655 |
Pallister-Hall-Like Syndrome |
|
Pulmonary hypoplasia, Death in infancy |
OMIM:241800 |
Pulmonary Alveolar Microlithiasis |
|
Bronchitis, Dyspnea, Tachypnea, Subpleural interstitial thickening, Restrictive ventilatory defec... |
ORPHA:60025 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Left ventricular out... |
ORPHA:308552 |
Odontochondrodysplasia 1 |
|
Respiratory distress, Recurrent respiratory infections, Pulmonary hypoplasia, Death in infancy |
OMIM:184260 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Reduced left ventricular ejection fraction, Hypotension, Heart block, Arrhythmia, Hypoxemia, Capi... |
ORPHA:542323 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Respiratory insufficiency, Aplasia/Hypoplasia of the lungs |
ORPHA:1046 |
Severe Acute Respiratory Syndrome |
|
Dyspnea, Cough, Respiratory failure requiring assisted ventilation, Hypoxemia, Chronic lung disea... |
ORPHA:140896 |
Muscular Dystrophy, Congenital, 1B |
|
Respiratory failure |
OMIM:604801 |
Ciliary Dyskinesia, Primary, 12 |
|
Neonatal respiratory distress, Recurrent respiratory infections, Chronic sinusitis, Chronic pulmo... |
OMIM:612650 |
Ciliary Dyskinesia, Primary, 22 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Chronic bronchi... |
OMIM:615444 |
Arthrogryposis Multiplex Congenita 6 |
|
Death in childhood, Death in infancy, Respiratory failure, Neonatal death |
OMIM:619334 |
Thanatophoric Dysplasia, Type I |
|
Neonatal respiratory distress, Pulmonary hypoplasia, Neonatal death |
OMIM:187600 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Recurrent respiratory infections, Aplasia/Hypoplasia of the lungs |
ORPHA:1548 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Respiratory failure |
OMIM:618637 |
Agnathia-Otocephaly Complex |
|
Respiratory distress, Pulmonary hypoplasia, Tracheomalacia |
OMIM:202650 |
Fetal Akinesia Deformation Sequence |
|
Respiratory insufficiency, Pulmonary hypoplasia |
ORPHA:994 |
Thrombophilia Due To Thrombin Defect |
|
Pulmonary embolism |
OMIM:188050 |
Lymphatic Malformation 12 |
|
Neonatal respiratory distress, Death in adolescence, Neonatal death, Pleural thickening, Recurren... |
OMIM:620014 |
Pulmonary Arteriovenous Malformation |
|
Pulmonary arterial hypertension, Dyspnea, Heart murmur, Cough, Palpitations, Hypoxemia, Ischemic ... |
ORPHA:2038 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Anomalous origin of left pulmonary artery from ascending aorta, Pulmonary artery atresia, Recurre... |
ORPHA:99050 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Neonatal respiratory distress, Pulmonary hypoplasia, Respiratory infections in early life, Miscar... |
ORPHA:96179 |
Severe Congenital Nemaline Myopathy |
|
Pulmonary hypoplasia, Respiratory failure |
ORPHA:171430 |
Serkal Syndrome |
|
Pulmonary hypoplasia, Pulmonic stenosis |
ORPHA:139466 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Dyspnea, Respiratory failure |
ORPHA:2759 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Death in childhood, Neonatal respiratory distress, Respiratory insufficiency, Death in infancy, N... |
OMIM:245400 |
Afibrinogenemia, Congenital |
|
Death in childhood, Gingival bleeding, Prolonged bleeding after dental extraction, Epidural hemor... |
OMIM:202400 |
Ciliary Dyskinesia, Primary, 35 |
|
Neonatal respiratory distress, Chronic sinusitis, Nasal polyposis, Productive cough, Chronic rhin... |
OMIM:617092 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Episodic hypertension, Respiratory failure, Central hypoventilation, Apnea |
OMIM:619483 |
Absence Of The Pulmonary Artery |
|
Recurrent respiratory infections, Pulmonary arterial hypertension, Dyspnea, Abnormal EKG, Systoli... |
ORPHA:980 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Recurrent respiratory infections, Bruising susceptibility, Intracranial hemorrhage, Respiratory f... |
ORPHA:3226 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Pulmonary hypoplasia |
ORPHA:1486 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Neonatal respiratory distress, Pulmonary hypoplasia, Congestive heart failure, Cardiomyopathy |
OMIM:616866 |
Diffuse Alveolar Hemorrhage |
|
Increased DLCO, Dyspnea, Restrictive ventilatory defect, Cough, Hypoxemia, Pulmonary venous hyper... |
ORPHA:90060 |
Mercury Poisoning |
|
Dyspnea, Hypotension, Hypertension, Respiratory distress, Respiratory failure, Interstitial pneum... |
ORPHA:330021 |
Snakebite Envenomation |
|
Gingival bleeding, Hypotension, Cardiogenic shock, Intracranial hemorrhage, Ecchymosis, Cerebral ... |
ORPHA:449285 |
Renal Hypodysplasia/Aplasia 1 |
|
Pulmonary hypoplasia, Hypertension |
OMIM:191830 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Respiratory insufficiency, Respiratory failure |
OMIM:313420 |
Familial Isolated Restrictive Cardiomyopathy |
|
Recurrent respiratory infections, Dyspnea, Mitral regurgitation, Syncope, Pulmonary venous hypert... |
ORPHA:75249 |
Ciliary Dyskinesia, Primary, 38 |
|
Neonatal respiratory distress, Chronic sinusitis, Productive cough, Decreased nasal nitric oxide,... |
OMIM:618063 |
Total Anomalous Pulmonary Venous Return 1 |
|
Total anomalous pulmonary venous return, Recurrent respiratory infections, Pulmonary arterial hyp... |
OMIM:106700 |
Niemann-Pick Disease, Type C2 |
|
Death in childhood, Neonatal respiratory distress, Respiratory insufficiency, Death in infancy, P... |
OMIM:607625 |
Microphthalmia, Syndromic 9 |
|
Pulmonary artery atresia, Alveolar capillary dysplasia, Agenesis of pulmonary vessels, Respirator... |
OMIM:601186 |
Hyperekplexia 4 |
|
Respiratory failure |
OMIM:618011 |
Long Qt Syndrome 13 |
|
Cardiac arrest, Prolonged QTc interval, Reduced left ventricular ejection fraction, Torsade de po... |
OMIM:613485 |
Tetrasomy 5P |
|
Recurrent respiratory infections, Pulmonary arterial hypertension, Pulmonary hypoplasia, Respirat... |
ORPHA:3309 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Pulmonary hypoplasia, Abnormal lung lobation |
OMIM:263210 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:2204 |
Tonne-Kalscheuer Syndrome |
|
Pulmonary hypoplasia |
OMIM:300978 |
Lymphoid Interstitial Pneumonia |
|
Raynaud phenomenon, Dyspnea, Subpleural interstitial thickening, Decreased DLCO, Restrictive vent... |
ORPHA:79128 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Pulmonary hypoplasia, Neonatal death |
OMIM:231680 |
Atrial Septal Defect, Sinus Venosus Type |
|
Paradoxical splitting of the second heart sound, Tricuspid regurgitation, Supraventricular arrhyt... |
ORPHA:99105 |
Alg3-Cdg |
|
Pulmonary hypoplasia, Cardiomyopathy |
ORPHA:79321 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Respiratory insufficiency, Respiratory failure |
ORPHA:370968 |
Hepatic Veno-Occlusive Disease |
|
Respiratory failure |
ORPHA:890 |
Ciliary Dyskinesia, Primary, 43 |
|
Neonatal respiratory distress, Chronic sinusitis, Productive cough, Recurrent lower respiratory t... |
OMIM:618699 |
Jeune Syndrome |
|
Respiratory insufficiency, Aplasia/Hypoplasia of the lungs |
ORPHA:474 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Neonatal respiratory distress, Respiratory failure, Central sleep apnea, Apnea |
ORPHA:168486 |
Congenital Pulmonary Lymphangiectasia |
|
Pulmonary arterial hypertension, Chronic pulmonary obstruction, Pulmonic stenosis, Cough, Tricusp... |
ORPHA:2414 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Respiratory distress, Pulmonary hypoplasia, Stillbirth |
OMIM:151210 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Death in infancy, Respiratory failure, Hypertrophic cardiomyopathy |
OMIM:619386 |
Hughes-Stovin Syndrome |
|
Pulmonary arterial hypertension, Dyspnea, Vasculitis, Cough, Pulmonary embolism, Cardiorespirator... |
ORPHA:228116 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Tachypnea, Respiratory insufficiency, Death in infancy, Respiratory distress, Respiratory failure... |
OMIM:614299 |
Laryngotracheoesophageal Cleft |
|
Neonatal respiratory distress, Recurrent respiratory infections, Dyspnea, Aspiration, Cough, Stridor |
ORPHA:2004 |
Factor V Excess With Spontaneous Thrombosis |
|
Pulmonary embolism |
OMIM:134400 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Respiratory insufficiency, Miscarriage, Pulmonary hypoplasia |
ORPHA:1865 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Pulmonary hypoplasia, Recurrent respiratory infections, Pulmonary artery atresia |
OMIM:618316 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Pulmonary hypoplasia, Pulmonary artery stenosis, Bilateral lung agenesis, Congenital pulmonary ai... |
OMIM:611812 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Death in infancy, Respiratory failure |
OMIM:618240 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Respiratory failure |
OMIM:613435 |
Kagami-Ogata Syndrome |
|
Pulmonary hypoplasia, Pulmonary arterial hypertension, Pulmonic stenosis |
OMIM:608149 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Pulmonary hypoplasia, Neonatal death |
OMIM:314390 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Aplasia/Hypoplasia of the lungs, Abnormal lung lobation, Respiratory insufficiency, Death in infa... |
ORPHA:1120 |
Diaphanospondylodysostosis |
|
Respiratory insufficiency, Pulmonary hypoplasia, Respiratory distress, Tracheomalacia |
OMIM:608022 |
Riddle Syndrome |
|
Bronchitis, Chronic sinusitis, Restrictive ventilatory defect, Pulmonary fibrosis, Telangiectasia... |
ORPHA:420741 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Pulmonary hypoplasia, Hypertension, Neonatal death, Portal hypertension, Hematemesis |
OMIM:263200 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Pulmonary arterial hypertension, Respiratory insufficiency, Death in infancy, Neonatal death, Res... |
OMIM:605711 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Central sleep apnea, Obstructive sleep apnea, Congestive heart failure, Respiratory failure, Hype... |
ORPHA:70472 |
Vacterl Association With Hydrocephalus |
|
Respiratory insufficiency, Stillbirth, Respiratory failure |
OMIM:276950 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Pleural effusion, Pulmonary hypoplasia, Hypertrophic cardiomyopathy |
OMIM:616897 |
Meacham Syndrome |
|
Death in childhood, Pulmonary hypoplasia, Death in infancy, Neonatal death, Stillbirth, Cardiac t... |
OMIM:608978 |
Gaucher Disease, Perinatal Lethal |
|
Pulmonary hypoplasia, Apnea, Respiratory distress, Purpura, Neonatal death, Petechiae |
OMIM:608013 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Elevated pulmonary artery pressure, Pulmonary hypoplasia, Bidirectional shunt, Respiratory failur... |
OMIM:619351 |
Proximal Spinal Muscular Atrophy |
|
Recurrent infections due to aspiration, Neonatal respiratory distress, Restrictive ventilatory de... |
ORPHA:70 |
Matthew-Wood Syndrome |
|
Pulmonary hypoplasia, Abnormal lung morphology |
ORPHA:2470 |
Muscular Dystrophy, Duchenne Type |
|
Abnormal EKG, Restrictive ventilatory defect, Respiratory insufficiency due to muscle weakness, C... |
OMIM:310200 |
Congenital Tricuspid Valve Dysplasia |
|
Tachypnea, Systolic heart murmur, Hypoxemia, Tricuspid regurgitation, Respiratory failure, Respir... |
ORPHA:555874 |
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive |
|
Purpura, Vitreous hemorrhage, Pulmonary embolism |
OMIM:612304 |
Intermediate Nemaline Myopathy |
|
Cardiomyopathy, Respiratory failure |
ORPHA:171433 |
1Q41Q42 Microdeletion Syndrome |
|
Pulmonary hypoplasia |
ORPHA:250999 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Pulmonary hypoplasia |
ORPHA:3035 |
Neuromyelitis Optica Spectrum Disorder |
|
Respiratory failure |
ORPHA:71211 |
Multiple Pterygium Syndrome, X-Linked |
|
Pulmonary hypoplasia |
OMIM:312150 |
Platyspondylic Dysplasia, Torrance Type |
|
Pulmonary hypoplasia |
ORPHA:85166 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Restrictive ventilatory defect, Reduced vital capacity, Respiratory failure, Orthopnea, Exertiona... |
ORPHA:98913 |
Spastic Paraplegia Type 2 |
|
Recurrent respiratory infections, Pulmonary embolism |
ORPHA:99015 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Respiratory insufficiency, Respiratory failure |
OMIM:615330 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Aspiration, Pulmonary arterial hypertension, Atelectasis, Reduced left ventricular ejection fract... |
ORPHA:258 |
Meckel Syndrome 14 |
|
Mitral regurgitation, Pulmonary hypoplasia, Cardiorespiratory arrest, Tricuspid regurgitation, Pn... |
OMIM:619879 |
Klippel-Trénaunay Syndrome |
|
Respiratory insufficiency, Pulmonary embolism, Gastrointestinal hemorrhage, Congestive heart fail... |
ORPHA:90308 |
Malignant Atrophic Papulosis |
|
Ischemic stroke, Gastrointestinal hemorrhage, Arteritis, Respiratory failure, Telangiectasia of t... |
ORPHA:679 |
Cardiomyopathy, Dilated, 2H |
|
Neonatal death, Cardiorespiratory arrest, Reduced left ventricular ejection fraction, Tachypnea |
OMIM:620203 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Dyspnea, Respiratory insufficiency due to muscle weakness, Arrhythmia, Respiratory failure, Dilat... |
ORPHA:352447 |
Achondroplasia |
|
Upper airway obstruction, Pulmonary hypoplasia, Death in infancy, Respiratory distress |
OMIM:100800 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Apneic episodes precipitated by illness, fatigue, stress, Respiratory failure |
OMIM:312170 |
Tibial Muscular Dystrophy |
|
Cardiomyopathy, Respiratory failure |
ORPHA:609 |
Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Sleep apnea, Respiratory failure, Central hypoventilation, Apnea |
OMIM:618233 |
Autosomal Recessive Amelia |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:1027 |
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant |
|
Purpura, Pulmonary embolism |
OMIM:612336 |
Multiple Pterygium Syndrome, Lethal Type |
|
Pulmonary hypoplasia |
OMIM:253290 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Death in childhood, Cardiomyopathy, Death in infancy, Neonatal death, Stillbirth, Respiratory fai... |
OMIM:614922 |
Leigh Syndrome |
|
Respiratory insufficiency, Respiratory failure, Abnormal pattern of respiration |
OMIM:256000 |
Brain-Lung-Thyroid Syndrome |
|
Recurrent respiratory infections, Pulmonary arterial hypertension, Neonatal respiratory distress,... |
ORPHA:209905 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Recurrent respiratory infections, Abnormal respiratory system physiology, Pneumonia, Respiratory ... |
ORPHA:98905 |
Congenital Myopathy 17 |
|
Respiratory insufficiency, Pulmonary hypoplasia, Respiratory tract infection |
OMIM:618975 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Wolff-Parkinson-White syndrome, Severely reduced left ventricular ejection fraction, Congestive h... |
ORPHA:444013 |
Pontocerebellar Hypoplasia Type 1 |
|
Congenital laryngeal stridor, Respiratory failure |
ORPHA:2254 |
Hemorrhagic Fever-Renal Syndrome |
|
Intracranial hemorrhage, Respiratory failure, Epistaxis, Dyspnea, Hypotension, Palpitations, Hype... |
ORPHA:340 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Respiratory insufficiency, Respiratory failure, Neonatal death |
OMIM:618186 |
Joubert Syndrome 21 |
|
Dyspnea, Chronic sinusitis, Pulmonary hypoplasia, Apnea, Respiratory failure |
OMIM:615636 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Arrhythmia, Death in infancy, Congestive heart failure, Respiratory failure, Hypertrophic cardiom... |
ORPHA:1194 |
Microcephaly-Micromelia Syndrome |
|
Pulmonary hypoplasia, Neonatal death |
OMIM:251230 |
Eye Defects-Arachnodactyly-Cardiopathy Syndrome |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:2725 |
Radio-Renal Syndrome |
|
Dyspnea, Respiratory distress, Respiratory failure, Pleural effusion, Chylothorax |
ORPHA:3015 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Death in childhood, Tracheomalacia, Atelectasis, Pulmonary hypoplasia, Death in infancy, Peripher... |
OMIM:613177 |
Antisynthetase Syndrome |
|
Myocarditis, Recurrent respiratory infections, Pulmonary arterial hypertension, Respiratory insuf... |
ORPHA:81 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
|
Inspiratory stridor, Ventilator dependence with inability to wean, Respiratory failure, Tachypnea |
OMIM:604320 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Nocturnal hypoventilation, Reduced vital capacity, Respiratory failure |
OMIM:603689 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Recurrent respiratory infections, Respiratory insufficiency, Pulmonary hypoplasia, Death in infan... |
OMIM:208500 |
3-Methylglutaconic Aciduria Type 7 |
|
Cardiomyopathy, Respiratory failure, Pneumothorax |
ORPHA:445038 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Respiratory failure |
ORPHA:75840 |
Caudal Regression Syndrome |
|
Pulmonary hypoplasia, Hypertension |
ORPHA:3027 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Vasculitis, Atelectasis, Respiratory insufficiency, Respiratory insufficiency due to muscle weakn... |
ORPHA:365 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Neonatal respiratory distress, Pulmonary arterial hypertension, Pulmonary hypoplasia, Aortopulmon... |
OMIM:620025 |
Genitopatellar Syndrome |
|
Pulmonary hypoplasia, Apnea |
ORPHA:85201 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Interstitial emphysema, Pulmonary hypoplasia, Bronchiectasis |
OMIM:619708 |
Complete Atrioventricular Septal Defect |
|
Intercostal retractions, Abnormal EKG, Right bundle branch block, Wheezing, Third heart sound, Sy... |
ORPHA:1329 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Abnormal pleura morphology, Aplasia/Hypoplasia of the lungs |
ORPHA:2570 |
Combined Oxidative Phosphorylation Deficiency 4 |
|
Death in infancy, Respiratory failure |
OMIM:610678 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Pulmonary hypoplasia |
ORPHA:86822 |
Geleophysic Dysplasia 3 |
|
Dyspnea, Mitral regurgitation, Sleep apnea, Pneumonia, Respiratory failure |
OMIM:617809 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Restrictive ventilatory defect, Respiratory failure |
OMIM:606612 |
Atrial Septal Defect, Ostium Secundum Type |
|
Tricuspid regurgitation, Transient ischemic attack, Supraventricular arrhythmia, Breathing dysreg... |
ORPHA:99103 |
Meckel Syndrome, Type 6 |
|
Pulmonary hypoplasia, Bilobed right lung |
OMIM:612284 |
Short-Rib Thoracic Dysplasia 12 |
|
Respiratory insufficiency, Pulmonary hypoplasia, Atelectasis, Neonatal death |
OMIM:269860 |
Stuve-Wiedemann Syndrome 1 |
|
Pulmonary arterial hypertension, Respiratory insufficiency, Pulmonary hypoplasia, Death in infanc... |
OMIM:601559 |
Alg1-Cdg |
|
Cardiomyopathy, Respiratory failure |
ORPHA:79327 |
Marden-Walker Syndrome |
|
Pulmonary hypoplasia |
OMIM:248700 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Death in childhood, Recurrent respiratory infections, Atelectasis, Respiratory insufficiency, Pul... |
OMIM:618278 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Respiratory failure |
OMIM:613954 |
Achondrogenesis |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:932 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Respiratory insufficiency due to muscle weakness, Central apnea, Respiratory failure, Subdural he... |
OMIM:618291 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Respiratory insufficiency, Pulmonary hypoplasia, Stillbirth |
OMIM:616300 |
Familial Dilated Cardiomyopathy |
|
Dyspnea, Mitral regurgitation, Left ventricular systolic dysfunction, Reduced left ventricular ej... |
ORPHA:217607 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hypertension, Respiratory failure |
ORPHA:363400 |
Esophageal Atresia |
|
Recurrent respiratory infections, Bronchitis, Aspiration, Chronic pulmonary obstruction, Laryngot... |
ORPHA:1199 |
Acro-Renal-Mandibular Syndrome |
|
Pulmonary hypoplasia, Abnormal lung lobation |
ORPHA:958 |
Teebi Hypertelorism Syndrome 1 |
|
Pulmonary hypoplasia |
OMIM:145420 |
Boomerang Dysplasia |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:1263 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Death in childhood, Respiratory failure, Tachypnea |
OMIM:615838 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Pulmonary hypoplasia |
OMIM:612530 |
Renal Agenesis |
|
Pulmonary hypoplasia, Hypertension |
ORPHA:411709 |
Atrial Septal Defect, Coronary Sinus Type |
|
Pulmonary arterial hypertension, Dyspnea, Systolic heart murmur, Right ventricular failure, Synco... |
ORPHA:99104 |
Thanatophoric Dysplasia Type 2 |
|
Respiratory insufficiency, Aplasia/Hypoplasia of the lungs |
ORPHA:93274 |
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Purpura, Pulmonary embolism, Cerebral hemorrhage |
OMIM:614514 |
Czeizel-Losonci Syndrome |
|
Pulmonary hypoplasia |
ORPHA:2437 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Obstructive sleep apnea, Intercostal muscle weakness, Respiratory failure, Stridor |
OMIM:606071 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Repeated pneumothoraces, Tracheomalacia, Atelectasis, Bruising susceptibility, Restrictive ventil... |
ORPHA:536467 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Death in childhood, Neonatal respiratory distress, Pulmonary hypoplasia |
OMIM:214100 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Pulmonary arterial hypertension, Neonatal death, Respiratory distress, Central apnea, Congestive ... |
OMIM:616482 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Pulmonary hypoplasia |
OMIM:614091 |
Pagod Syndrome |
|
Arrhythmia, Pulmonary hypoplasia, Death in infancy, Pulmonary artery hypoplasia, Sudden cardiac d... |
ORPHA:991 |
Truncus Arteriosus |
|
Pulmonary artery atresia, Pulmonic stenosis, Pulmonary hypoplasia, Pulmonary artery hypoplasia, A... |
ORPHA:3384 |
Oligomeganephronia |
|
Pulmonary venous occlusion, Pulmonary hypoplasia, Hypertension |
ORPHA:2260 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Arrhythmia, Pulmonary embolism, Hypertension, Congestive heart failure, Hypertrophic cardiomyopathy |
ORPHA:1345 |
Atrial Septal Defect, Ostium Primum Type |
|
Tricuspid regurgitation, Atrial fibrillation, Exertional dyspnea, Pulmonary artery dilatation, Re... |
ORPHA:99106 |
Achondrogenesis Type 1B |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:93298 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Recurrent respiratory infections, Pulmonary arterial hypertension, Mitral regurgitation, Tachycar... |
ORPHA:99125 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Neonatal respiratory distress, Pulmonary hypoplasia |
ORPHA:2990 |
Metatropic Dysplasia |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:2635 |
Achondrogenesis, Type Ia |
|
Stillbirth, Pulmonary hypoplasia |
OMIM:200600 |
Acrocephalopolydactylous Dysplasia |
|
Extrapulmonary sequestrum, Pulmonary hypoplasia |
OMIM:200995 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Pulmonary hypoplasia, Aortic valve stenosis, Portal hypertension, Neonatal death |
OMIM:208540 |
Atelosteogenesis Type I |
|
Pulmonary hypoplasia |
ORPHA:1190 |
Arterial Tortuosity Syndrome |
|
Cardiac arrest, Myocarditis, Dyspnea, Telangiectasia of the skin, Hypertension, Cardiorespiratory... |
ORPHA:3342 |
Ciliary Dyskinesia, Primary, 20 |
|
Recurrent respiratory infections, Pulmonary arterial hypertension, Atelectasis, Productive cough,... |
OMIM:615067 |
Nocardiosis |
|
Pleuritis, Dyspnea, Productive cough, Nonproductive cough, Respiratory distress, Pneumonia, Emphy... |
ORPHA:31204 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Pulmonary hypoplasia |
OMIM:615503 |
Achondrogenesis Type 1A |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:93299 |
Craniosynostosis, Herrmann-Opitz Type |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:2145 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure |
OMIM:613845 |
Spinocerebellar Ataxia Type 1 |
|
Respiratory failure |
ORPHA:98755 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Pulmonary hypoplasia, Pulmonic stenosis |
OMIM:619148 |
Distal Triplication 15Q |
|
Pulmonary hypoplasia |
ORPHA:314588 |
Metatropic Dysplasia |
|
Respiratory insufficiency, Respiratory failure |
OMIM:156530 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Respiratory failure |
OMIM:620166 |
Lethal Congenital Contracture Syndrome 2 |
|
Respiratory failure, Dilated cardiomyopathy |
OMIM:607598 |
Renal Agenesis, Bilateral |
|
Pulmonary hypoplasia |
ORPHA:1848 |
Lethal Congenital Contracture Syndrome 10 |
|
Pulmonary hypoplasia |
OMIM:617022 |
Tetraploidy |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:3305 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Death in childhood, Respiratory insufficiency due to muscle weakness, Respiratory distress, Respi... |
OMIM:220110 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Death in infancy, Respiratory failure |
OMIM:614862 |
Granulomatosis With Polyangiitis |
|
Pleuritis, Hemosiderin-laden macrophages in bronchoalveolar fluid, Diffuse alveolar hemorrhage, R... |
OMIM:608710 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Lip telangiectasia, Hypoxemia, Nasal mucosa telangiectasia, Transient ischemic attack, Palate tel... |
OMIM:187300 |
Amyotrophic Lateral Sclerosis |
|
Dyspnea, Abnormal respiratory system physiology, Respiratory failure |
ORPHA:803 |
Raine Syndrome |
|
Pulmonary hypoplasia, Death in infancy, Neonatal death |
OMIM:259775 |
Triosephosphate Isomerase Deficiency |
|
Death in adolescence, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness... |
OMIM:615512 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Neonatal respiratory distress, Antenatal intracerebral hemorrhage, Respiratory insufficiency, Arr... |
OMIM:608836 |
Cirrhotic Cardiomyopathy |
|
Left ventricular diastolic dysfunction, Third heart sound, Global systolic dysfunction, Reduced l... |
ORPHA:57777 |
Pulmonary Hypertension, Primary, 3 |
|
Elevated pulmonary artery pressure, Pulmonary arterial hypertension, Dyspnea, Increased pulmonary... |
OMIM:615343 |
Bickerstaff Brainstem Encephalitis |
|
Hypercapnia, Dyspnea, Respiratory tract infection, Respiratory failure, Pneumonia, Respiratory fa... |
ORPHA:79138 |
Leigh Syndrome With Cardiomyopathy |
|
Mitral regurgitation, Pulmonic stenosis, Central hypoventilation, Respiratory distress, Apnea, Co... |
ORPHA:70474 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Respiratory insufficiency, Arrhythmia, Congestive heart failure, Respiratory failure, Dilated car... |
OMIM:609015 |
Fibrodysplasia Ossificans Progressiva |
|
Respiratory insufficiency, Respiratory failure |
OMIM:135100 |
Mosaic Trisomy 1 |
|
Pulmonary hypoplasia, Pulmonary artery atresia |
ORPHA:1692 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Dyspnea, Restrictive ventilatory defect, Arrhythmia, Cardiomyopathy, Cardiorespiratory arrest, Co... |
ORPHA:26791 |
Thoracoabdominal Syndrome |
|
Pulmonary hypoplasia |
OMIM:313850 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Respiratory failure |
OMIM:616505 |
Boutonneuse Fever |
|
Vasculitis, Respiratory failure, Petechiae |
ORPHA:83313 |
Atelosteogenesis Type Ii |
|
Pulmonary hypoplasia, Tracheobronchomalacia |
ORPHA:56304 |
Pulmonary Hypertension, Primary, 4 |
|
Pulmonary arterial hypertension, First degree atrioventricular block, Elevated pulmonary artery p... |
OMIM:615344 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Recurrent pneumonia, Respiratory failure, Respiratory failure requiring assisted ventilation |
ORPHA:496641 |
Pentalogy Of Cantrell |
|
Pulmonary hypoplasia |
ORPHA:1335 |
Cardiogenic Shock |
|
Cardiac arrest, Abnormal EKG, ST segment elevation, Dyspnea, Mitral regurgitation, Hypotension, E... |
ORPHA:97292 |
Lethal Congenital Contracture Syndrome 9 |
|
Pulmonary hypoplasia, Cardiorespiratory arrest |
OMIM:616503 |
Verloove Vanhorick-Brubakk Syndrome |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:3429 |
Fixed Subaortic Stenosis |
|
Dyspnea, Mitral regurgitation, Systolic heart murmur, Pulmonic stenosis, Paroxysmal atrial fibril... |
ORPHA:3092 |
Autosomal Recessive Polycystic Kidney Disease |
|
Pulmonary hypoplasia, Hypertension, Spontaneous pneumothorax, Hypoventilation, Recurrent pneumoni... |
ORPHA:731 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Respiratory failure |
ORPHA:1861 |
Mitochondrial Trifunctional Protein Deficiency |
|
Mitral regurgitation, Respiratory insufficiency, Arrhythmia, Cardiomyopathy, Tricuspid regurgitat... |
ORPHA:746 |
Sandestig-Stefanova Syndrome |
|
Respiratory failure |
OMIM:618804 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Death in childhood, Respiratory failure |
OMIM:619847 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Death in childhood, Respiratory failure, Bradypnea |
OMIM:617186 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Neonatal respiratory distress, Pulmonary hypoplasia |
OMIM:265000 |
Tarp Syndrome |
|
Pulmonary hypoplasia, Apnea |
ORPHA:2886 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2707 |
Greenberg Dysplasia |
|
Stillbirth, Pulmonary hypoplasia, Abnormal lung lobation, Neonatal death |
OMIM:215140 |
Fryns Syndrome |
|
Pulmonary hypoplasia |
ORPHA:2059 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Pulmonary hypoplasia |
OMIM:614080 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Aplasia/Hypoplasia of the lungs, Abnormal lung lobation |
ORPHA:2063 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Stillbirth, Pulmonary hypoplasia |
OMIM:308050 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Pulmonary embolism, Respiratory tract infection |
ORPHA:567548 |
Alg9-Cdg |
|
Pulmonary hypoplasia, Asthma, Abnormal lung lobation, Tricuspid regurgitation |
ORPHA:79328 |
Bloom Syndrome |
|
Bronchitis, Chronic pulmonary obstruction, Respiratory tract infection, Telangiectasia, Respirato... |
ORPHA:125 |
Ogden Syndrome |
|
Aspiration, Pulmonary arterial hypertension, Ventricular tachycardia, Restrictive ventilatory def... |
OMIM:300855 |
Mosaic Trisomy 16 |
|
Pulmonary hypoplasia, Abnormal lung morphology |
ORPHA:1708 |
Polycythemia Vera |
|
Gingival bleeding, Bruising susceptibility, Respiratory insufficiency, Pulmonary embolism, Hypert... |
ORPHA:729 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Pulmonary hypoplasia, Neonatal death |
OMIM:617925 |
Congenital Fiber-Type Disproportion Myopathy |
|
Recurrent respiratory infections, Hypercapnia, Aspiration pneumonia, Weakness of muscles of respi... |
ORPHA:2020 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Pulmonic stenosis, Restrictive ventilatory defect, Respiratory insufficiency, Pulmonary hypoplasi... |
ORPHA:536471 |
Neu-Laxova Syndrome |
|
Pulmonary hypoplasia |
ORPHA:2671 |
Thanatophoric Dysplasia Type 1 |
|
Respiratory insufficiency, Aplasia/Hypoplasia of the lungs |
ORPHA:1860 |
Fontaine Progeroid Syndrome |
|
Pulmonary arterial hypertension, Respiratory insufficiency, Pulmonary hypoplasia, Death in infanc... |
OMIM:612289 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Death in childhood, Dyspnea, Concentric hypertrophic cardiomyopathy, Respiratory insufficiency, D... |
OMIM:610505 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Purpura, Pulmonary embolism, Subcutaneous hemorrhage |
ORPHA:743 |
3-Methylglutaconic Aciduria, Type Viii |
|
Hypopnea, Death in infancy, Apnea, Neonatal death, Respiratory failure, Bradycardia, Respiratory ... |
OMIM:617248 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Pulmonary hypoplasia |
OMIM:271520 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Respiratory insufficiency, Cough, Portal hypertension, Emphysema, Respiratory failure, Tachypnea,... |
OMIM:613658 |
Meier-Gorlin Syndrome 7 |
|
Heart block, Pulmonary hypoplasia, Second degree atrioventricular block |
OMIM:617063 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Pulmonary hypoplasia |
OMIM:616546 |
Otopalatodigital Syndrome Type 2 |
|
Pulmonary hypoplasia |
ORPHA:90652 |
Prune Belly Syndrome |
|
Recurrent respiratory infections, Aplasia/Hypoplasia of the lungs |
ORPHA:2970 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Pulmonary hypoplasia, Tricuspid regurgitation |
OMIM:263520 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Pulmonary hypoplasia |
ORPHA:1112 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Prolonged prothrombin time, Cardiomyopathy, Respiratory failure |
ORPHA:88618 |
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Purpura, Pulmonary embolism |
ORPHA:745 |
Vacterl With Hydrocephalus |
|
Pulmonary hypoplasia |
ORPHA:3412 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Respiratory insufficiency, Prolonged prothrombin time, Respiratory failure, Hypertrophic cardiomy... |
OMIM:618329 |
Listeriosis |
|
Myocarditis, Miscarriage, Respiratory distress, Congestive heart failure, Arteritis, Pneumonia, R... |
ORPHA:533 |
Infantile Krabbe Disease |
|
Respiratory distress, Abnormal heart rate variability, Respiratory failure |
ORPHA:206436 |
Idiopathic Pulmonary Arterial Hypertension |
|
Pulmonary arterial hypertension, Dyspnea, Syncope, Palpitations, Tricuspid regurgitation, Elevate... |
ORPHA:275766 |
Blomstrand Lethal Chondrodysplasia |
|
Pulmonary hypoplasia |
ORPHA:50945 |
Fryns Syndrome |
|
Stillbirth, Pulmonary hypoplasia, Chylothorax |
OMIM:229850 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Dyspnea, Hypertension, Pulmonary embolism, Respiratory tract infection, Pleural effusion |
ORPHA:567546 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:2549 |
Mckusick-Kaufman Syndrome |
|
Pulmonary hypoplasia |
OMIM:236700 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Respiratory failure, Apnea |
OMIM:617301 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Pulmonary arterial hypertension, Miscarriage, Restrictive ventilatory defect, Pulmonary hypoplasi... |
ORPHA:96334 |
Poliomyelitis |
|
Hypovolemic shock, Hypotension, Hypertension, Respiratory failure, Respiratory failure requiring ... |
ORPHA:2912 |
Tetraamelia Syndrome 1 |
|
Pulmonary hypoplasia, Peripheral pulmonary vessel aplasia |
OMIM:273395 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Respiratory failure |
ORPHA:280210 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Pulmonary embolism, Recurrent lower respiratory tract infections, Budd-Chiari syndrome |
OMIM:226300 |
Tetraamelia Syndrome 2 |
|
Bilateral lung agenesis, Hypoplastic pulmonary veins |
OMIM:618021 |
Tuberous Sclerosis Complex |
|
Hypertension, Respiratory tract infection, Respiratory distress, Pulmonary lymphangiomyomatosis, ... |
ORPHA:805 |
Holzgreve Syndrome |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:2167 |
Dpagt1-Cdg |
|
Pulmonary hypoplasia, Intracranial hemorrhage, Prolonged QT interval |
ORPHA:86309 |
Cardiac-Urogenital Syndrome |
|
Tracheomalacia, Tachycardia, Pulmonary hypoplasia, Scimitar anomaly, Prolonged bleeding time, Par... |
OMIM:618280 |
Acrorenal-Mandibular Syndrome |
|
Pulmonary hypoplasia |
OMIM:200980 |
Catastrophic Antiphospholipid Syndrome |
|
Myocarditis, Pulmonary arterial hypertension, Miscarriage, Pulmonary embolism, Transient ischemic... |
ORPHA:464343 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Dyspnea, Respiratory distress, Respiratory failure, Pneumonia, Pneumothorax, Bradycardia, Stridor... |
ORPHA:79404 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Respiratory failure |
ORPHA:3240 |
Lethal Acantholytic Erosive Disorder |
|
Hypovolemic shock, Cardiomyopathy, Impaired myocardial contractility, Respiratory failure |
ORPHA:158687 |
Nijmegen Breakage Syndrome |
|
Recurrent sinopulmonary infections, Recurrent pneumonia, Respiratory failure, Recurrent respirato... |
ORPHA:647 |
Ulbright-Hodes Syndrome |
|
Respiratory distress, Pulmonary hypoplasia, Respiratory failure, Pneumothorax |
ORPHA:3404 |
Leigh Syndrome |
|
Hypertrophic cardiomyopathy, Congestive heart failure, Respiratory failure, Abnormal pattern of r... |
ORPHA:506 |
Smith-Lemli-Opitz Syndrome |
|
Pulmonary hypoplasia, Hypertension, Death in infancy, Ventricular fibrillation, Hypertrophic card... |
OMIM:270400 |
Crimean-Congo Hemorrhagic Fever |
|
Myocarditis, Gingival bleeding, Bundle branch block, Bradycardia, Epistaxis, Pulmonary arterial h... |
ORPHA:99827 |
Fetal Akinesia Deformation Sequence 1 |
|
Stillbirth, Pulmonary hypoplasia |
OMIM:208150 |
Tetraamelia-Multiple Malformations Syndrome |
|
Aplasia/Hypoplasia of the lungs, Abnormal lung lobation |
ORPHA:3301 |
Orofaciodigital Syndrome Type 4 |
|
Bilateral lung agenesis, Recurrent respiratory infections, Pulmonary hypoplasia |
ORPHA:2753 |
Smith-Lemli-Opitz Syndrome |
|
Pulmonary hypoplasia, Abnormal lung lobation |
ORPHA:818 |
Hereditary Hemorrhagic Telangiectasia |
|
Subarachnoid hemorrhage, Pulmonary arterial hypertension, Cerebral hemorrhage, Retinal telangiect... |
ORPHA:774 |
Osteogenesis Imperfecta |
|
Neonatal respiratory distress, Bruising susceptibility, Cerebral hemorrhage, Pulmonary hypoplasia... |
ORPHA:666 |
Restrictive Dermopathy 1 |
|
Stillbirth, Pulmonary hypoplasia, Neonatal death |
OMIM:275210 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Pulmonary hypoplasia |
ORPHA:83617 |
Osteopetrosis, Autosomal Recessive 5 |
|
Stillbirth, Respiratory failure |
OMIM:259720 |
Costello Syndrome |
|
Tracheomalacia, Pulmonic stenosis, Respiratory insufficiency, Arrhythmia, Obstructive sleep apnea... |
OMIM:218040 |
Meacham Syndrome |
|
Aplasia/Hypoplasia of the lungs, Anomalous pulmonary venous return, Pulmonary sequestration, Aort... |
ORPHA:3097 |
Distal Deletion 15Q |
|
Pulmonary hypoplasia, Mitral stenosis |
ORPHA:1596 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Concentric hypertrophic cardiomyopathy, Respiratory insufficiency, Death in infancy, Apnea, Respi... |
OMIM:252010 |
Schinzel-Giedion Syndrome |
|
Recurrent pneumonia, Pulmonary hypoplasia, Respiratory distress |
ORPHA:798 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Respiratory failure |
OMIM:616538 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Pulmonary arterial hypertension, Reduced FEV1/FVC ratio, Abnormal T-wave, Central sleep apnea, Ri... |
ORPHA:70591 |
Neu-Laxova Syndrome 1 |
|
Stillbirth, Pulmonary hypoplasia, Neonatal death |
OMIM:256520 |
Axial Mesodermal Dysplasia Spectrum |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:1834 |
Tetrasomy 9P |
|
Raynaud phenomenon, Pulmonary hypoplasia, Pulmonary arterial hypertension, Pericarditis |
ORPHA:3310 |
Niemann-Pick Disease Type C |
|
Respiratory insufficiency, Aspiration pneumonia, Abnormal lung morphology, Respiratory failure |
ORPHA:646 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Repeated pneumothoraces, Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Diffuse alveolar h... |
OMIM:130050 |
Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Death in childhood, Respiratory failure |
OMIM:618252 |
Penile Agenesis |
|
Bilateral lung agenesis, Pulmonary hypoplasia |
ORPHA:49 |
Meckel Syndrome, Type 1 |
|
Pulmonary hypoplasia |
OMIM:249000 |
Fraser Syndrome |
|
Pulmonary hypoplasia, Death in infancy, Abnormal lung lobation |
ORPHA:2052 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Respiratory failure |
ORPHA:254528 |
Idiopathic Hypereosinophilic Syndrome |
|
Raynaud phenomenon, Dyspnea, Cough, Pulmonary embolism, Intracranial hemorrhage, Pulmonary fibros... |
ORPHA:3260 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Respiratory insufficiency, Pulmonary hypoplasia |
ORPHA:93271 |
Steinert Myotonic Dystrophy |
|
Prolonged QRS complex, Left ventricular systolic dysfunction, Respiratory insufficiency, Respirat... |
ORPHA:273 |
Abetalipoproteinemia |
|
Prolonged prothrombin time, Congestive heart failure, Respiratory failure, Abnormal bleeding |
ORPHA:14 |
Fraser Syndrome 1 |
|
Pulmonary hypoplasia |
OMIM:219000 |
Short Rib-Polydactyly Syndrome |
|
Respiratory failure |
ORPHA:1505 |
Vacterl/Vater Association |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:887 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Ischemic stroke, Transient ischemic attack, Unilateral lung agenesis, Emphysema, Respiratory failure |
ORPHA:500150 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Death in infancy, Respiratory failure |
OMIM:300868 |
Restrictive Dermopathy |
|
Pulmonary hypoplasia |
ORPHA:1662 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Dyspnea, Mitral regurgitation, Arrhythmia, Tricuspid regurgitation, Respiratory distress, Respira... |
ORPHA:2556 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Reduced left ventricular ejection fraction, Pulmonary venous hypertension,... |
ORPHA:75565 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2554 |
Myhre Syndrome |
|
Respiratory insufficiency, Aortic valve stenosis, Hypertension, Respiratory failure |
OMIM:139210 |
Ellis Van Creveld Syndrome |
|
Aplasia/Hypoplasia of the lungs, Emphysema |
ORPHA:289 |
Focal Dermal Hypoplasia |
|
Aplasia/Hypoplasia of the lungs, Abnormality of the pulmonary vasculature, Telangiectasia of the ... |
ORPHA:2092 |
Fraser Syndrome 2 |
|
Respiratory failure |
OMIM:617666 |
Genitopatellar Syndrome |
|
Pulmonary hypoplasia |
OMIM:606170 |
Holoprosencephaly |
|
Respiratory insufficiency, Arrhythmia, Aplasia/Hypoplasia of the lungs |
ORPHA:2162 |
Pallister-Killian Syndrome |
|
Hyperventilation, Pulmonary hypoplasia, Stillbirth, Aortic valve stenosis, Hypertrophic cardiomyo... |
OMIM:601803 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Dyspnea, Respiratory failure |
ORPHA:2636 |
Otopalatodigital Syndrome, Type Ii |
|
Respiratory insufficiency, Stillbirth, Respiratory failure |
OMIM:304120 |
Multiple Osteochondromas |
|
Hemothorax, Pneumothorax |
ORPHA:321 |
Wolf-Hirschhorn Syndrome |
|
Recurrent respiratory infections, Aplasia/Hypoplasia of the lungs |
ORPHA:280 |
Craniofacial Microsomia |
|
Pulmonary hypoplasia |
OMIM:164210 |
Microphthalmia, Syndromic 1 |
|
Pulmonary hypoplasia |
OMIM:309800 |