Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Megalencephaly, Autosomal Dominant |
|
Hydrocephalus, Megalencephaly |
OMIM:155350 |
Anencephaly 1 |
|
Spina bifida, Anencephaly |
OMIM:206500 |
Neural Tube Defects, X-Linked |
|
Spina bifida, Anencephaly |
OMIM:301410 |
Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Chronic sinusitis, Recurrent p... |
OMIM:615294 |
Respiratory Distress Syndrome In Premature Infants |
|
Neonatal respiratory distress, Tachypnea, Respiratory distress, Dyspnea, Atelectasis |
OMIM:267450 |
Mucus Inspissation Of Respiratory Tract |
|
Chronic sinusitis, Chronic pulmonary obstruction, Atelectasis, Bronchiectasis |
OMIM:253240 |
Bronchopulmonary Dysplasia |
|
Wheezing, Central apnea, Hyperoxemia, Abnormal respiratory system physiology, Tracheobronchomalac... |
ORPHA:70589 |
Hydrocephalus With Cerebellar Agenesis |
|
Hydrocephalus |
OMIM:307010 |
Ciliary Dyskinesia, Primary, 29 |
|
Decreased nasal nitric oxide, Ciliary dyskinesia, Atelectasis, Bronchiectasis |
OMIM:615872 |
Diamond-Blackfan Anemia 19 |
|
Anemia, Steroid-responsive anemia, Erythroid hypoplasia |
OMIM:618312 |
Pulmonary Blastoma |
|
Dyspnea, Pulmonary infiltrates, Recurrent pneumonia, Cough |
ORPHA:64741 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Abnormal mucociliary clearance, Atelectasis, Bronchiectasis |
OMIM:619466 |
Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Nodular pattern on pulmonary HRCT, Dyspnea, Ground-glass opacification, Cough |
ORPHA:60026 |
Familial Nasal Acilia |
|
Bronchiectasis, Chronic rhinitis, Chronic sinusitis, Respiratory distress, Dyspnea, Atelectasis |
ORPHA:922 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
Tracheopathia Osteoplastica |
|
Wheezing, Dyspnea, Recurrent pneumonia, Cough |
OMIM:189961 |
Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
Recurrent Respiratory Papillomatosis |
|
Wheezing, Stridor, Respiratory insufficiency, Tachypnea, Upper airway obstruction, Respiratory di... |
ORPHA:60032 |
Ciliary Dyskinesia, Primary, 33 |
|
Ciliary dyskinesia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent pneumonia, Atelectasis |
OMIM:616726 |
Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
Asbestos Intoxication |
|
Wheezing, Restrictive ventilatory defect, Hypoxemia, Interlobular septal thickening, Diffuse reti... |
ORPHA:2302 |
Ciliary Dyskinesia, Primary, 20 |
|
Ciliary dyskinesia, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance,... |
OMIM:615067 |
Phosphoserine Phosphatase Deficiency |
|
Postnatal growth retardation, Intrauterine growth retardation |
OMIM:614023 |
Meconium Aspiration Syndrome |
|
Wheezing, Hypoxemia, Atelectasis, Transient pulmonary infiltrates, Pneumothorax, Pulmonary arteri... |
ORPHA:70588 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness |
|
Chronic sinusitis, Atelectasis |
OMIM:300455 |
Acute Interstitial Pneumonia |
|
Reticulonodular pattern on pulmonary HRCT, Hypoxemia, Crackles, Bronchiectasis, Tachypnea, Interl... |
ORPHA:79126 |
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome |
|
Holoprosencephaly, Cerebral cortical atrophy, Microcephaly |
ORPHA:2523 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Wheezing, Hypoxemia, Crackles, Abnormal pulmonary thoracic imaging finding, Asthma, Nonproductive... |
ORPHA:2902 |
Hemoglobin D Disease |
|
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
Chronic Pneumonitis Of Infancy |
|
Hypoxemia, Tachypnea, Ground-glass opacification, Cough, Respiratory distress, Intercostal retrac... |
ORPHA:91359 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Aspiration pneumonia, Upper airway obstruction |
ORPHA:141152 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction |
OMIM:615092 |
Frontal Encephalocele |
|
Aplasia/Hypoplasia of the corpus callosum, Spina bifida, Hydrocephalus, Cerebral calcification |
ORPHA:1931 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Wheezing, Hypoxemia, Neonatal respiratory distress, Crackles, Tachypnea, Ground-glass opacificati... |
OMIM:610978 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy |
OMIM:616341 |
Rowley-Rosenberg Syndrome |
|
Pulmonary arterial hypertension, Recurrent pneumonia, Atelectasis |
OMIM:268500 |
Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Epilepsy, Pyridoxine-Dependent |
|
Respiratory distress, Neonatal respiratory distress |
OMIM:266100 |
Tracheobronchopathia Osteochondroplastica |
|
Wheezing, Productive cough, Stridor, Respiratory insufficiency, Pneumonia, Upper airway obstructi... |
ORPHA:3348 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Hypoxemia, Reduced forced expiratory volume in one second, Pneumonia, Bronchiectasis, Decreased f... |
ORPHA:1303 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Left ventricular noncompaction, Endocardial fibrosis, Left ventricular hy... |
OMIM:601493 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Crazy paving pattern, Hypoxemia, Neonatal respiratory distress, Death in infancy, Nonspecific int... |
OMIM:610921 |
Laryngotracheal Angioma |
|
Wheezing, Stridor, Apnea, Cough, Respiratory distress, Intercostal retractions |
ORPHA:137935 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Respiratory insufficiency, Abnormal pattern of respiration, Cough, Pulmonary infiltrates, Restric... |
ORPHA:724 |
Infant Acute Respiratory Distress Syndrome |
|
Hypoxemia, Pneumonia, Tachypnea, Respiratory failure, Nasal flaring, Atelectasis |
ORPHA:70587 |
Holoprosencephaly With Fetal Akinesia/Hypokinesia Sequence |
|
Holoprosencephaly, Microcephaly |
OMIM:306990 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Crazy paving pattern, Hypoxemia, Crackles, Tachypnea, Cough, Respiratory distress, Acute infectio... |
ORPHA:264675 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
Acalvaria |
|
Holoprosencephaly, Spina bifida, Hydrocephalus |
ORPHA:945 |
Left Ventricular Noncompaction 10 |
|
Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:615396 |
Severe Acute Respiratory Syndrome |
|
Hypoxemia, Cough, Respiratory distress, Acute infectious pneumonia, Chronic lung disease, Dyspnea... |
ORPHA:140896 |
Cardiomyopathy, Dilated, 1R |
|
Dilated cardiomyopathy, Restrictive cardiomyopathy, Left ventricular noncompaction, Left ventricu... |
OMIM:613424 |
Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
Surfactant Metabolism Dysfunction, Pulmonary, 5 |
|
Respiratory insufficiency, Interlobular septal thickening, Ground-glass opacification, Exertional... |
OMIM:614370 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Spina bifida, Anencephaly, Hypoplastic left heart |
ORPHA:2476 |
Perching Syndrome |
|
Respiratory distress |
OMIM:617055 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Chronic pulmonary obstruction, Crackles, Bronchiectasis, Pneumothorax, Cough, Respiratory distres... |
ORPHA:411703 |
Cryptogenic Organizing Pneumonia |
|
Wheezing, Hypoxemia, Bronchial breath sound, Crackles, Pneumothorax, Ground-glass opacification, ... |
ORPHA:1302 |
Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Patent ductus arteriosu... |
OMIM:604169 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Apneic episodes precipita... |
OMIM:254210 |
Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Endocardial fibrosis, Endocardial fibroelastosis, Cardiomyocyte hypertrop... |
OMIM:612158 |
Pulmonary Venoocclusive Disease 2, Autosomal Recessive |
|
Centrilobular ground-glass opacification on pulmonary HRCT, Pulmonary arterial hypertension, Coug... |
OMIM:234810 |
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
|
Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox... |
OMIM:206000 |
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency, Respiratory distress |
OMIM:614399 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress |
OMIM:615595 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:205950 |
Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Neonatal death, Death in infancy, Atelectasis |
OMIM:300219 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Death in infancy |
OMIM:604377 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress |
OMIM:619099 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:206100 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Mitral valve prolapse, Joint contracture of the hand, Spina bifida, Camptodactyly, Small thenar e... |
OMIM:211960 |
Left Ventricular Noncompaction 8 |
|
Dilated cardiomyopathy, Left ventricular noncompaction, Abnormal left ventricle morphology |
OMIM:615373 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Laryngeal Web, Familial |
|
Respiratory distress, Stridor |
OMIM:150360 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Hypoxemia, Intralobular septal thickening, Respiratory insufficiency, Interstitial pneumonitis, N... |
OMIM:610913 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Apneic episodes precipita... |
OMIM:605809 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Wheezing, Hypoxemia, Chronic pulmonary obstruction, Bronchiectasis, Ground-glass opacification, R... |
ORPHA:79127 |
Histiocytosis, Familial Lipochrome |
|
Pulmonary infiltrates |
OMIM:235900 |
Pleural Mesothelioma |
|
Abnormal respiratory system physiology, Cough, Respiratory distress, Dyspnea, Pleural effusion |
ORPHA:50251 |
Ciliary Dyskinesia, Primary, 1 |
|
Communicating hydrocephalus, Pneumonia, Ciliary dyskinesia, Bronchiectasis, Chronic rhinitis, Chr... |
OMIM:244400 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory failure, Respiratory distress, Dyspnea |
ORPHA:1832 |
Diaphanospondylodysostosis |
|
Respiratory distress, Myelomeningocele |
ORPHA:66637 |
Mental retardation, x-linked, syndromic, Turner type |
|
Holoprosencephaly |
OMIM:300706 |
Staphylococcal Necrotizing Pneumonia |
|
Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Cough, Pleural empyema, Respiratory distress, Pulm... |
ORPHA:36238 |
Surfactant Metabolism Dysfunction, Pulmonary, 4 |
|
Reduced forced expiratory volume in one second, Tachypnea, Ground-glass opacification, Decreased ... |
OMIM:300770 |
Congenital Laryngeal Web |
|
Respiratory distress, Stridor |
ORPHA:2374 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Tachypnea, Respiratory distress, Respiratory failure, Cough |
OMIM:263000 |
Idiopathic Pulmonary Fibrosis |
|
Crackles, Bronchiectasis, Ground-glass opacification, Cough, Exertional dyspnea, Reticular patter... |
ORPHA:2032 |
Gaucher Disease Type 2 |
|
Respiratory distress, Cough, Abnormal pattern of respiration |
ORPHA:77260 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Death in childhood |
OMIM:615597 |
Bronchogenic Cyst |
|
Pneumonia, Cough, Dyspnea, Abnormal pulmonary thoracic imaging finding, Atelectasis |
ORPHA:2357 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Exertional dyspnea, Atelectasis |
ORPHA:254361 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Respiratory insufficiency |
ORPHA:238329 |
Cardiomyopathy, Dilated, 1D |
|
Dilated cardiomyopathy, Left ventricular noncompaction, Left ventricular hypertrophy |
OMIM:601494 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Lymphocytic interstitial pneumonia |
OMIM:245590 |
Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Hydrocephalus, Anencephaly, Myelomeningocele |
OMIM:182940 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Anemia, Abnormal cardiac septum morphology, Abnormal hemoglobin |
ORPHA:3319 |
Acute Lung Injury |
|
Hypoxemia, Pneumonia, Tachypnea, Respiratory distress, Pulmonary infiltrates, Respiratory failure... |
ORPHA:178320 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Hypertrophic cardiomyopathy, Left ventricular noncompaction |
OMIM:617228 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect |
OMIM:600776 |
Eosinophilia, Familial |
|
Leukocytosis, Myocardial eosinophilic infiltration, Anemia, Thrombocytopenia, Eosinophilia |
OMIM:131400 |
Primary Ciliary Dyskinesia |
|
Wheezing, Productive cough, Neonatal respiratory distress, Bronchiectasis, Chronic rhinitis, Chro... |
ORPHA:244 |
Bardet-Biedl Syndrome 16 |
|
Respiratory distress |
OMIM:615993 |
Diamond-Blackfan Anemia 16 |
|
Atrial septal defect, Anemia, Pulmonic stenosis |
OMIM:617408 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal respiratory distress, Death in infancy, Tachypnea, Interlobular septal thickening, Neona... |
OMIM:265120 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness |
OMIM:300580 |
Chronic Beryllium Disease |
|
Reticulonodular pattern on pulmonary HRCT, Lymphocytic interstitial pneumonia, Abnormal respirato... |
ORPHA:133 |
Alpha-1-Antitrypsin Deficiency |
|
Wheezing, Dyspnea, Chronic pulmonary obstruction, Panacinar emphysema |
OMIM:613490 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Anemia |
OMIM:611283 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hypertrophic cardiomyopathy, Erythroid hyperplasia, Anemia, Splenomegaly, Reticulocytosis, Anemia... |
OMIM:613673 |
Pneumocystosis |
|
Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Exertional dyspnea, Combined cyst... |
ORPHA:723 |
Craniorachischisis |
|
Sirenomelia, Anencephaly, Myelomeningocele, Cervical spina bifida, Spinal dysraphism |
ORPHA:63260 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Interstitial pneumonitis, Tachypnea, Spontaneous neonatal pneumoth... |
ORPHA:217563 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Respiratory distress... |
ORPHA:254875 |
Hypocalcemia, Autosomal Dominant 2 |
|
Postnatal growth retardation |
OMIM:615361 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Hemoglobin E Disease |
|
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... |
ORPHA:2133 |
Idiopathic Bronchiectasis |
|
Wheezing, Productive cough, Crackles, Abnormal respiratory system physiology, Bronchiectasis, Red... |
ORPHA:60033 |
Waardenburg Syndrome Type 3 |
|
Tracheomalacia, Atelectasis |
ORPHA:896 |
Delta-Beta-Thalassemia |
|
Microcytic anemia, Anemia, Abnormal hemoglobin |
ORPHA:231237 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress |
ORPHA:91130 |
Nevus Comedonicus Syndrome |
|
Spina bifida, Microcephaly, Spina bifida occulta |
ORPHA:64754 |
Malaria |
|
Respiratory distress |
ORPHA:673 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Anemia, Splenomegaly, Anisoc... |
ORPHA:766 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Death in infancy, Respiratory distress, Neonatal respiratory distress |
OMIM:615042 |
Pulmonary Hemosiderosis |
|
Respiratory insufficiency, Transient pulmonary infiltrates |
OMIM:178550 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Ventilator dependence with inability to wean, Respiratory failure requiring... |
ORPHA:254864 |
Thyroid Lymphoma |
|
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction |
ORPHA:97285 |
Leukodystrophy, Hypomyelinating, 17 |
|
Respiratory distress |
OMIM:618006 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal mitochondria in muscle tissue, Ragg... |
OMIM:252011 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Lymphangioleiomyomatosis |
|
Pneumothorax, Cough, Pulmonary infiltrates, Hydrocephalus, Restrictive ventilatory defect, Dyspne... |
ORPHA:538 |
Aplasia Cutis Congenita |
|
Spinal dysraphism |
ORPHA:1114 |
Avian Influenza |
|
Productive cough, Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Ground-glass opacification, Coug... |
ORPHA:454836 |
Diffuse Alveolar Hemorrhage |
|
Hypoxemia, Irregular septal thickening on pulmonary HRCT, Ground-glass opacification, Cough, Pulm... |
ORPHA:90060 |
Congenital Pulmonary Lymphangiectasia |
|
Chronic pulmonary obstruction, Pulmonary arterial hypertension, Cough, Respiratory distress, Pleu... |
ORPHA:2414 |
Agnathia-Otocephaly Complex |
|
Holoprosencephaly, Respiratory distress, Tracheomalacia |
OMIM:202650 |
Interstitial Lung Disease 2 |
|
Pulmonary arterial hypertension, Cough, Exertional dyspnea, Decreased DLCO, Dyspnea |
OMIM:178500 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress |
ORPHA:26792 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress |
OMIM:300934 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Postnatal growth retardation, Intrauterine growth retardation |
OMIM:600546 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Hepatosplenomegaly, Anemia, Neonatal death |
OMIM:273680 |
Pancytopenia And Occlusive Vascular Disease |
|
Pancytopenia, Thrombocytopenia, Anemia, Leukopenia |
OMIM:167850 |
Lethal Recessive Chondrodysplasia |
|
Respiratory distress |
ORPHA:1423 |
Congenital Diaphragmatic Hernia |
|
Hypoxemia, Respiratory distress |
ORPHA:2140 |
Schisis Association |
|
Spina bifida, Anencephaly, Microcephaly |
ORPHA:63862 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bicuspid aortic valve, Abnormal aortic valve morphology, Atrioventricular canal defect, Congenita... |
ORPHA:1120 |
Growth Hormone Deficiency, Isolated Partial |
|
Postnatal growth retardation, Short stature |
OMIM:615925 |
Tularemia |
|
Pneumonia, Abnormal pulmonary thoracic imaging finding, Cough, Respiratory distress, Pulmonary in... |
ORPHA:3392 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress |
OMIM:614741 |
Ciliary Dyskinesia, Primary, 2 |
|
Sinusitis, Ciliary dyskinesia, Bronchiectasis, Respiratory distress, Immotile cilia |
OMIM:606763 |
Erythroleukemia, Familial, Susceptibility To |
|
Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thrombocytopenia |
OMIM:133180 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Upper airway obstruction |
ORPHA:100057 |
Idiopathic Pulmonary Hemosiderosis |
|
Restrictive ventilatory defect, Crackles, Ground-glass opacification, Cough, Pulmonary infiltrate... |
ORPHA:99931 |
Chiari Malformation Type Ii |
|
Agenesis of corpus callosum, Spina bifida, Hydrocephalus, Myelomeningocele |
OMIM:207950 |
Microtia-Anotia |
|
Holoprosencephaly |
OMIM:600674 |
Sarcoidosis, Susceptibility To, 2 |
|
Hypoxemia, Bronchiectasis, Pneumothorax, Pulmonary arterial hypertension, Pulmonary infiltrates, ... |
OMIM:612387 |
Anaplastic Thyroid Carcinoma |
|
Stridor, Cough, Upper airway obstruction, Respiratory distress, Dyspnea |
ORPHA:142 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Erythroid hyperplasia, Anemia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Anemi... |
OMIM:615631 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anisocytosis, Poikilocytosis, Oval macrocytosis, Anemia of inadequate production |
OMIM:603529 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress |
ORPHA:240085 |
Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect, Spina bifida, Congenital muscular torticollis |
ORPHA:2345 |
Nipah Virus Disease |
|
Respiratory distress, Cough |
ORPHA:99825 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Anemia, Splenomegaly, Poikilocytosis, Decreased mean corpuscular volume |
OMIM:615234 |
Idiopathic Neonatal Atrial Flutter |
|
Tachypnea, Respiratory distress |
ORPHA:45452 |
Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia |
OMIM:619523 |
N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress |
OMIM:237310 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Hypertrophic cardiomyopathy, Left ventricular noncompaction, Patent ductus arteriosus |
OMIM:616501 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thrombocytopenia |
OMIM:615285 |
Myopathy And Diabetes Mellitus |
|
Respiratory distress |
ORPHA:2596 |
Farber Disease |
|
Respiratory insufficiency, Respiratory distress, Diffuse reticular or finely nodular infiltration... |
ORPHA:333 |
Aspergillosis |
|
Sinusitis, Chronic pulmonary obstruction, Pneumonia, Bronchiectasis, Ground-glass opacification, ... |
ORPHA:1163 |
Caudal Duplication |
|
Spina bifida, Myelomeningocele |
ORPHA:1756 |
Acropectorovertebral Dysplasia |
|
Spina bifida |
ORPHA:957 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia |
ORPHA:596 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
Slc35A1-Cdg |
|
Hypoxemia, Respiratory distress, Pneumonia |
ORPHA:238459 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Dyspnea, Cough |
ORPHA:86812 |
Hypoglossia With Situs Inversus |
|
Respiratory distress, Upper airway obstruction |
OMIM:612776 |
Formiminoglutamic Aciduria |
|
Megaloblastic anemia, Anemia, Atrial septal defect |
ORPHA:51208 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... |
OMIM:202700 |
Short-Rib Thoracic Dysplasia 12 |
|
Anencephaly, Respiratory insufficiency, Holoprosencephaly, Neonatal death, Hydrocephalus, Atelect... |
OMIM:269860 |
Alpha-Thalassemia |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemolytic anemia |
ORPHA:846 |
Anemia, Sideroblastic, 1 |
|
Macrocytic anemia, Hypochromic microcytic anemia, Sideroblastic anemia, Anemia of inadequate prod... |
OMIM:300751 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Cough, Atelectasis |
ORPHA:2314 |
Nephronophthisis-Like Nephropathy 2 |
|
Pulmonary infiltrates, Cough, Bronchiectasis |
OMIM:619468 |
Acute Erythroid Leukemia |
|
Pancytopenia, Anemia, Leukopenia, Erythroid hypoplasia |
ORPHA:318 |
Odontochondrodysplasia |
|
Respiratory distress, Death in infancy |
ORPHA:166272 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Tachypnea, Respiratory insufficiency, Atelectasis |
OMIM:618278 |
Adult Acute Respiratory Distress Syndrome |
|
Hypoxemia, Pneumonia, Abnormal blood gas level, Pulmonary infiltrates, Respiratory failure, Dyspnea |
ORPHA:70578 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Intercostal muscle weakness, Respiratory insufficiency, Pulmonary arterial hypertension, Aspirati... |
ORPHA:258 |
Blepharocheilodontic Syndrome 1 |
|
Neural tube defect |
OMIM:119580 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress |
ORPHA:240103 |
Folinic Acid-Responsive Seizures |
|
Respiratory distress, Apnea |
ORPHA:79097 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness |
ORPHA:1143 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Stridor, Respiratory insufficiency, Respiratory distress, Nocturnal hypoventilation, Dyspnea |
OMIM:211530 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress |
OMIM:616733 |
Hyperparathyroidism, Transient Neonatal |
|
Respiratory distress |
OMIM:618188 |
Pulmonary Hypertension, Primary, 3 |
|
Dyspnea, Elevated pulmonary artery pressure, Pulmonary arterial hypertension, Increased pulmonary... |
OMIM:615343 |
Choanal Atresia |
|
Chronic sinusitis, Upper airway obstruction, Respiratory distress, Abnormal nasal mucus secretion... |
ORPHA:137914 |
Diamond-Blackfan Anemia 20 |
|
Total anomalous pulmonary venous return, Anemia, Erythroid hypoplasia |
OMIM:618313 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory failure, Respiratory distress, Dyspnea |
ORPHA:2759 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress |
OMIM:618426 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr... |
OMIM:619041 |
Lujo Hemorrhagic Fever |
|
Crackles, Rhinitis, Respiratory distress, Nonproductive cough, Atelectasis |
ORPHA:319213 |
Multiple Carboxylase Deficiency |
|
Tachypnea, Respiratory distress |
ORPHA:148 |
Cardiomyopathy, Dilated, 1S |
|
Dilated cardiomyopathy, Bicuspid aortic valve, Left ventricular noncompaction |
OMIM:613426 |
Amish Lethal Microcephaly |
|
Spina bifida, Agenesis of corpus callosum, Microcephaly, Lissencephaly |
ORPHA:99742 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Holoprosencephaly, Respiratory distress |
ORPHA:990 |
Pulmonary Capillary Hemangiomatosis |
|
Hypoxemia, Centrilobular ground-glass opacification on pulmonary HRCT, Interlobular septal thicke... |
ORPHA:199241 |
Acquired Methemoglobinemia |
|
Hypoxemia, Dyspnea, Respiratory distress |
ORPHA:464453 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... |
OMIM:300835 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory insufficiency, Repeated pneumothoraces, Respiratory distress, Hydrocephalus, Restrict... |
ORPHA:536467 |
Alg3-Cdg |
|
Neural tube defect, Cerebral white matter atrophy, Abnormal cerebral morphology, Subcortical cere... |
ORPHA:79321 |
Sirenomelia |
|
Spina bifida, Sirenomelia |
ORPHA:3169 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Exertional dyspnea, ... |
ORPHA:365 |
Bleeding Disorder, Platelet-Type, 16 |
|
Anemia, Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosis |
OMIM:187800 |
Atrial Standstill |
|
Skeletal muscle atrophy, Abnormal heart morphology, Cardiomyopathy, Muscular dystrophy, Flexion c... |
ORPHA:1344 |
Czeizel-Losonci Syndrome |
|
Dextrocardia, Myelomeningocele, Aplasia of the left hemidiaphragm, Spina bifida, Hydrocephalus, P... |
ORPHA:2437 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress |
ORPHA:261304 |
Laryngotracheoesophageal Cleft |
|
Neonatal respiratory distress, Stridor, Cough, Aspiration, Dyspnea |
ORPHA:2004 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Respiratory insufficiency |
ORPHA:1145 |
Anti-Glomerular Basement Membrane Disease |
|
Pulmonary infiltrates, Cough, Respiratory insufficiency |
ORPHA:375 |
Chitayat Syndrome |
|
Respiratory distress, Tracheomalacia |
OMIM:617180 |
Zygomycosis |
|
Sinusitis, Pneumothorax, Epistaxis, Rhinorrhea, Cough, Pulmonary infiltrates, Acute infectious pn... |
ORPHA:73263 |
Congenital Tracheomalacia |
|
Wheezing, Productive cough, Neonatal respiratory distress, Stridor, Respiratory insufficiency, Tr... |
ORPHA:95430 |
Hb Bart'S Hydrops Fetalis |
|
Pericarditis, Anemia, Abnormal hemoglobin, Splenomegaly, Hydrocephalus |
ORPHA:163596 |
Inhalational Anthrax |
|
Respiratory distress, Dyspnea |
ORPHA:247257 |
Nasolacrimal Duct Cyst |
|
Abnormal breath sound, Paroxysmal dyspnea, Stridor, Episodic respiratory distress, Intercostal re... |
ORPHA:141083 |
Lymphoid Interstitial Pneumonia |
|
Wheezing, Hypoxemia, Crackles, Bronchiectasis, Centrilobular ground-glass opacification on pulmon... |
ORPHA:79128 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Dilated cardiomyopathy, Neonatal death, Left ventricular hypertrophy, Left ventricular noncompact... |
OMIM:619167 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Umbilical hernia |
ORPHA:226313 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress |
ORPHA:289916 |
Sick Sinus Syndrome 2 |
|
Left ventricular hypertrophy, Left ventricular noncompaction, Mitral valve prolapse |
OMIM:163800 |
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type |
|
Cervical spina bifida |
OMIM:600122 |
Hypereosinophilic Syndrome, Idiopathic |
|
Pulmonary infiltrates |
OMIM:607685 |
Mosaic Trisomy 9 |
|
Dextrocardia, Ventricular septal defect, Intrauterine growth retardation, Endocardial fibroelasto... |
ORPHA:99776 |
Mercury Poisoning |
|
Respiratory failure, Respiratory distress, Dyspnea, Interstitial pneumonitis |
ORPHA:330021 |
Holocarboxylase Synthetase Deficiency |
|
Tachypnea, Respiratory distress |
ORPHA:79242 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Apneic episodes in infancy, Episodic tachypnea, Respiratory distress, Dyspnea, Intermittent hyper... |
ORPHA:348 |
Anophthalmia Plus Syndrome |
|
Spina bifida |
ORPHA:1104 |
Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress |
OMIM:618201 |
Dohle Bodies And Leukemia |
|
Acute myeloid leukemia, Secundum atrial septal defect, Anemia, Leukocyte inclusion bodies |
OMIM:223350 |
Whim Syndrome |
|
Sinusitis, Pneumonia, Bronchiectasis, Recurrent pneumonia, Atelectasis |
ORPHA:51636 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Respiratory distress |
OMIM:608799 |
Posterior Meningocele |
|
Meningocele, Occipital meningocele, Neural tube defect, Hydrocephalus, Lipomyelomeningocele |
ORPHA:268810 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Apnea, Respiratory distress, Hypoventilation, Recurrent pneumonia, Aspiration pneumonia |
ORPHA:314655 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Respiratory distress |
ORPHA:89844 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Mitral stenosis, Hypoplastic left heart, Atrial septal defect, Aortic valve stenosis, Spinal dysr... |
OMIM:617660 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress |
ORPHA:79312 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress |
OMIM:617102 |
Episodic Ataxia Type 1 |
|
Respiratory distress |
ORPHA:37612 |
Spinocerebellar Ataxia, X-Linked 3 |
|
Episodic hypoventilation, Death in infancy, Episodic respiratory distress |
OMIM:301790 |
Scedosporiosis |
|
Sinusitis, Bronchial breath sound, Abnormal respiratory system physiology, Pneumonia, Cough, Pleu... |
ORPHA:449280 |
Odontochondrodysplasia 1 |
|
Respiratory distress, Death in infancy |
OMIM:184260 |
Stt3B-Cdg |
|
Respiratory distress |
ORPHA:370924 |
Aminopterin/Methotrexate Embryofetopathy |
|
Meningocele, Ventricular septal defect, Anencephaly, Holoprosencephaly, Situs inversus totalis, H... |
ORPHA:1908 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hypochromia, Erythroid hyperplasia, Anemia, Splenomegaly, Hepatosplenomegaly, Anisocytosis, Decre... |
OMIM:616860 |
22Q11.2 Deletion Syndrome |
|
Meningocele, Arrhinencephaly, Chronic pulmonary obstruction, Occipital myelomeningocele, Spina bi... |
ORPHA:567 |
Synaptic Congenital Myasthenic Syndromes |
|
Neonatal respiratory distress, Respiratory insufficiency, Pulmonary arterial hypertension, Exerti... |
ORPHA:98915 |
Kniest Dysplasia |
|
Respiratory distress, Tracheomalacia, Umbilical hernia |
OMIM:156550 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory failure, Respiratory distress |
OMIM:617895 |
Cerebrocostomandibular Syndrome |
|
Meningocele, Hydranencephaly, Myelomeningocele, Spina bifida, Porencephalic cyst, Cerebral calcif... |
ORPHA:1393 |
Pulmonary Alveolar Microlithiasis |
|
Restrictive ventilatory defect, Hypoxemia, Respiratory insufficiency, Bronchiectasis, Tachypnea, ... |
ORPHA:60025 |
Cryptococcosis |
|
Pneumonia, Cough, Respiratory distress, Hydrocephalus, Nodular pattern on pulmonary HRCT, Dyspnea... |
ORPHA:1546 |
Relapsing Polychondritis |
|
Dyspnea, Atelectasis, Cough, Abnormal pattern of respiration |
ORPHA:728 |
Pfeiffer Syndrome Type 2 |
|
Respiratory distress, Tracheomalacia, Hydrocephalus, Aqueductal stenosis |
ORPHA:93259 |
Myotonic Dystrophy 1 |
|
Respiratory distress |
OMIM:160900 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Spina bifida, Microcephaly |
ORPHA:1327 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Respiratory distress |
ORPHA:544503 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory failure, Respiratory distress, Dyspnea |
ORPHA:2707 |
Iniencephaly |
|
Anencephaly, Myelomeningocele, Holoprosencephaly, Lissencephaly, Spina bifida, Hydrocephalus, Spi... |
ORPHA:63259 |
Tetanus |
|
Tachypnea, Respiratory distress |
ORPHA:3299 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress |
ORPHA:927 |
Lymphatic Malformation 7 |
|
Respiratory distress |
OMIM:617300 |
Tetrasomy 5P |
|
Respiratory distress, Pulmonary arterial hypertension, Hydrocephalus |
ORPHA:3309 |
Immunodeficiency 27A |
|
Pulmonary infiltrates, Abnormal bronchus physiology, Pneumonia |
OMIM:209950 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly |
OMIM:617441 |
Campomelic Dysplasia |
|
Respiratory distress, Apnea, Hydrocephalus, Tracheobronchomalacia |
OMIM:114290 |
Naxos Disease |
|
Dilated cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Right ventricular ca... |
OMIM:601214 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Respiratory distress |
OMIM:606164 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production |
OMIM:166910 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Neonatal death |
OMIM:231680 |
Radio-Renal Syndrome |
|
Respiratory distress, Respiratory failure, Dyspnea, Pleural effusion, Chylothorax |
ORPHA:3015 |
Primary Dystonia, Dyt4 Type |
|
Respiratory distress |
ORPHA:98805 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Respiratory distress, Hydrocephalus |
OMIM:612863 |
Congenital Myasthenic Syndrome |
|
Respiratory arrest, Stridor, Apneic episodes precipitated by illness, fatigue, stress, Obstructiv... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Respiratory arrest, Stridor, Apneic episodes precipitated by illness, fatigue, stress, Obstructiv... |
ORPHA:98914 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Respiratory distress, Pulmonary arterial hypertension |
OMIM:619272 |
Diabetic Embryopathy |
|
Ventricular septal defect, Transposition of the great arteries, Hydrocephalus, Tetralogy of Fallo... |
ORPHA:1926 |
Moebius Syndrome |
|
Respiratory distress |
OMIM:157900 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Respiratory distress |
OMIM:271225 |
Oromandibular Dystonia |
|
Respiratory distress |
ORPHA:93958 |
Oculocerebrorenal Syndrome Of Lowe |
|
Death in infancy, Umbilical hernia, Atelectasis, Respiratory insufficiency |
ORPHA:534 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Exertional dyspnea, Respiratory insufficiency due to muscle weakness, Respiratory distress |
OMIM:220110 |
Chand Syndrome |
|
Atelectasis |
ORPHA:1401 |
Diaphanospondylodysostosis |
|
Respiratory distress, Tracheomalacia, Respiratory insufficiency |
OMIM:608022 |
Leigh Syndrome With Cardiomyopathy |
|
Respiratory failure, Respiratory distress, Central hypoventilation, Apnea |
ORPHA:70474 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Respiratory failure, Respiratory distress, Apnea, Respiratory insufficiency |
OMIM:608836 |
Waardenburg Syndrome Type 1 |
|
Meningocele, Spina bifida |
ORPHA:894 |
Limb Body Wall Complex |
|
Short umbilical cord, Ventricular septal defect, Ectopia cordis, Myelomeningocele, Anencephaly, A... |
ORPHA:2369 |
Pfeiffer Syndrome Type 3 |
|
Respiratory distress, Tracheomalacia, Aqueductal stenosis |
ORPHA:93260 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Respiratory distress, Hydrocephalus, Umbilical hernia |
ORPHA:1555 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Neonatal death, Apnea |
OMIM:608013 |
Fountain Syndrome |
|
Spina bifida, Spina bifida occulta |
ORPHA:3219 |
Neu-Laxova Syndrome 1 |
|
Short umbilical cord, Ventricular septal defect, Hydranencephaly, Intrauterine growth retardation... |
OMIM:256520 |
Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Recurrent pneumonia, Death in childhood |
OMIM:617303 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory distress, Respiratory insufficiency |
ORPHA:367 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Respiratory distress, Hydrocephalus |
OMIM:123790 |
Craniofaciofrontodigital Syndrome |
|
Respiratory distress, Dyspnea, Pulmonary arterial hypertension |
ORPHA:363705 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Respiratory distress |
ORPHA:329178 |
Rodrigues Blindness |
|
Nasal flaring |
OMIM:268320 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Pulmonary arterial hypertension |
ORPHA:2519 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Respiratory distress... |
ORPHA:308552 |
Fusariosis |
|
Sinusitis, Productive cough, Pneumonia, Bronchiectasis, Ground-glass opacification, Pulmonary inf... |
ORPHA:228119 |
Microlissencephaly-Micromelia Syndrome |
|
Respiratory distress |
ORPHA:50810 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Exencephaly |
ORPHA:2211 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Tachypnea, Respiratory distress, Pneumonia, Episodic tachypnea |
ORPHA:26793 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Respiratory distress |
OMIM:619383 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Respiratory distress, Tracheomalacia, Neonatal respiratory distress |
OMIM:217980 |
Congenital Enterovirus Infection |
|
Respiratory distress, Pleural effusion |
ORPHA:292 |
Gaucher Disease, Type I |
|
Pulmonary infiltrates, Dyspnea, Epistaxis, Pulmonary arterial hypertension |
OMIM:230800 |
Hereditary Angioedema Type 1 |
|
Respiratory distress, Dyspnea, Inspiratory stridor |
ORPHA:100050 |
Letterer-Siwe Disease |
|
Dyspnea, Pulmonary infiltrates |
OMIM:246400 |
Trisomy 18 |
|
Ventricular septal defect, Intrauterine growth retardation, Anencephaly, Holoprosencephaly, Conge... |
ORPHA:3380 |
Renal Dysplasia-Limb Defects Syndrome |
|
Respiratory failure, Pneumothorax, Neonatal death, Respiratory distress |
OMIM:266910 |
Pelvis-Shoulder Dysplasia |
|
Spina bifida, Hydrocephalus, Hydranencephaly |
ORPHA:2839 |
Brain-Lung-Thyroid Syndrome |
|
Neonatal respiratory distress, Pulmonary arterial hypertension, Respiratory distress, Recurrent p... |
ORPHA:209905 |
Auriculocondylar Syndrome |
|
Respiratory distress, Snoring, Obstructive sleep apnea |
ORPHA:137888 |
Cocaine Intoxication |
|
Wheezing, Tachypnea, Pneumothorax, Cough, Respiratory distress, Pulmonary infiltrates, Hyperventi... |
ORPHA:90068 |
Focal Dermal Hypoplasia |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Diastasis r... |
ORPHA:2092 |
Complete Atrioventricular Septal Defect |
|
Wheezing, Crackles, Tachypnea, Elevated pulmonary artery pressure, Pulmonary venous hypertension,... |
ORPHA:1329 |
Coccidioidomycosis |
|
Pneumonia, Cough, Pleural empyema, Respiratory distress, Pulmonary infiltrates, Hydrocephalus, Ex... |
ORPHA:228123 |
Goodpasture Syndrome |
|
Crackles, Tachypnea, Ground-glass opacification, Cough, Exertional dyspnea, Pulmonary infiltrates... |
OMIM:233450 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Stridor, Pulmonary arterial hypertension, Respiratory distress, Hydrocephalus, Airway obstruction |
ORPHA:505248 |
Immunodeficiency 60 And Autoimmunity |
|
Pulmonary infiltrates, Bronchiectasis |
OMIM:618394 |
Lumbar Syndrome |
|
Spina bifida, Myelomeningocele |
ORPHA:83628 |
Infantile Krabbe Disease |
|
Respiratory failure, Respiratory distress |
ORPHA:206436 |
Oculopharyngodistal Myopathy 1 |
|
Hypercapnia, Respiratory insufficiency due to muscle weakness, Respiratory distress, Aspiration, ... |
OMIM:164310 |
Mogs-Cdg |
|
Respiratory distress, Apnea, Hypoventilation |
ORPHA:79330 |
Methylmalonic Aciduria, Cblb Type |
|
Respiratory distress |
OMIM:251110 |
Spondyloepiphyseal Dysplasia Congenita |
|
Restrictive ventilatory defect, Respiratory distress |
OMIM:183900 |
Fibular Hemimelia |
|
Abnormal heart morphology, Spina bifida |
ORPHA:93323 |
Pagod Syndrome |
|
Meningocele, Situs inversus totalis, Congenital diaphragmatic hernia, Hypoplastic left heart, Spi... |
ORPHA:991 |
Biotinidase Deficiency |
|
Respiratory distress, Apnea, Hyperventilation |
ORPHA:79241 |
Nocardiosis |
|
Productive cough, Pneumonia, Pneumothorax, Respiratory distress, Nonproductive cough, Respiratory... |
ORPHA:31204 |
Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Aspiration |
OMIM:618733 |
Vacterl With Hydrocephalus |
|
Arrhinencephaly, Spina bifida, Hydrocephalus, Aqueductal stenosis |
ORPHA:3412 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress |
OMIM:610536 |
Methylmalonic Aciduria, Cbla Type |
|
Respiratory distress |
OMIM:251100 |
Bacterial Toxic-Shock Syndrome |
|
Sinusitis, Respiratory distress, Tachypnea, Pneumonia |
ORPHA:36234 |
Neu-Laxova Syndrome |
|
Abnormal cortical gyration, Absent septum pellucidum, Pachygyria, Macrogyria, Spina bifida, Polym... |
ORPHA:2671 |
Diffuse Cutaneous Systemic Sclerosis |
|
Pulmonary infiltrates, Dyspnea, Pulmonary arterial hypertension |
ORPHA:220393 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ventricular septal defect, Shoulder muscle hypoplasia, Spina bifida, Atrial septal defect, Tetral... |
OMIM:274000 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Dyspnea, Pulmonary infiltrates, Cough, Interstitial pneumonitis |
ORPHA:139402 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Respiratory distress |
OMIM:612852 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Right ventricular hyper... |
OMIM:300967 |
Diamond-Blackfan Anemia 10 |
|
Respiratory distress |
OMIM:613309 |
Absence Of The Pulmonary Artery |
|
Hypocapnia, Bronchiectasis, Pulmonary arterial hypertension, Recurrent pneumonia, Orthopnea, Nonp... |
ORPHA:980 |
Japanese Encephalitis |
|
Respiratory distress, Irregular respiration, Respiratory paralysis, Abnormal pattern of respiration |
ORPHA:79139 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Truncus arteriosus, Atrioventricular canal defe... |
ORPHA:508498 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Respiratory distress |
ORPHA:438216 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Pulmonary arterial hypertension, Hydrocephalus, Pulmonary embolism |
ORPHA:79282 |
Sepsis In Premature Infants |
|
Nasal flaring, Dyspnea, Abnormal mucociliary clearance, Abnormal respiratory system physiology |
ORPHA:90051 |
Arterial Tortuosity Syndrome |
|
Respiratory failure, Respiratory distress, Dyspnea, Cardiorespiratory arrest |
ORPHA:3342 |
Legionnaires Disease |
|
Restrictive ventilatory defect, Pulmonary infiltrates, Cough, Respiratory insufficiency |
ORPHA:549 |
Idiopathic Hypereosinophilic Syndrome |
|
Cough, Respiratory distress, Pulmonary infiltrates, Asthma, Pulmonary embolism, Dyspnea, Pleural ... |
ORPHA:3260 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Respiratory distress |
OMIM:274150 |
Q Fever |
|
Respiratory distress, Pleural effusion, Cough, Pneumonia |
ORPHA:781 |
Sea-Blue Histiocytosis |
|
Pulmonary infiltrates |
ORPHA:158029 |
Shwachman-Diamond Syndrome 1 |
|
Respiratory distress, Neonatal respiratory distress |
OMIM:260400 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Respiratory distress |
OMIM:300968 |
Pachyonychia Congenita |
|
Respiratory distress |
ORPHA:2309 |
Esophageal Atresia |
|
Chronic pulmonary obstruction, Episodic respiratory distress, Laryngotracheomalacia, Respiratory ... |
ORPHA:1199 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Atrioventricular canal defect, Torticollis, Patent ductus arteriosus, Spina bifida, Unilateral fa... |
OMIM:619480 |
Colchicine Poisoning |
|
Respiratory distress, Cardiorespiratory arrest |
ORPHA:31824 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Spinal dysraphism, Splenomegaly |
OMIM:612918 |
Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Pulmonary arterial hypertension |
ORPHA:210122 |
Basal Cell Nevus Syndrome |
|
Cardiac rhabdomyoma, Spina bifida, Hydrocephalus, Cardiac fibroma |
OMIM:109400 |
Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Aspiration, Apnea |
ORPHA:2131 |
Fanconi Anemia |
|
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Abnormal aortic valve morphology, P... |
ORPHA:84 |
Isolated Arrhinia |
|
Respiratory distress |
ORPHA:1134 |
Hemorrhagic Fever-Renal Syndrome |
|
Pneumonia, Epistaxis, Cough, Respiratory distress, Respiratory failure, Dyspnea, Pleural effusion |
ORPHA:340 |
Trisomy 20P |
|
Spina bifida, Umbilical hernia |
ORPHA:261318 |
Waardenburg Syndrome, Type 1 |
|
Spina bifida, Myelomeningocele |
OMIM:193500 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Sinusitis, Respiratory insufficiency, Cough, Pulmonary infiltrates, Asthma |
ORPHA:183 |
Congenital Tracheal Stenosis |
|
Wheezing, Upper airway obstruction, Respiratory distress, Dyspnea, Neonatal asphyxia |
ORPHA:141127 |
Cystic Echinococcosis |
|
Abnormal pulmonary thoracic imaging finding, Asthma |
ORPHA:400 |
Toxic Epidermal Necrolysis |
|
Restrictive ventilatory defect, Respiratory distress, Cough |
ORPHA:537 |
Griscelli Syndrome Type 2 |
|
Pulmonary infiltrates |
ORPHA:79477 |
Mgat2-Cdg |
|
Respiratory distress |
ORPHA:79329 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Dyspnea, Apnea, Episodic respiratory distress, Hyperventilation |
ORPHA:255210 |
Adnp Syndrome |
|
Respiratory distress, Aspiration, Umbilical hernia |
ORPHA:404448 |
Aicardi Syndrome |
|
Dilated third ventricle, Partial agenesis of the corpus callosum, Cavum septum pellucidum, Pachyg... |
OMIM:304050 |
Cloacal Exstrophy |
|
Spina bifida, Myelomeningocele |
ORPHA:93929 |
Jacobsen Syndrome |
|
Ventricular septal defect, Intrauterine growth retardation, Spina bifida, Hypoplastic left heart,... |
ORPHA:2308 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Interstitial pneumonitis, Pneumonia |
ORPHA:37042 |
Ramos-Arroyo Syndrome |
|
Respiratory distress |
ORPHA:1051 |
Majeed Syndrome |
|
Pulmonary infiltrates, Cough |
ORPHA:77297 |
Granulomatosis With Polyangiitis |
|
Sinusitis, Respiratory insufficiency, Rhinorrhea, Cough, Pulmonary infiltrates |
OMIM:608710 |
Ethylene Glycol Poisoning |
|
Tachypnea, Episodic respiratory distress, Abnormal pattern of respiration |
ORPHA:31826 |
Vater/Vacterl Association |
|
Patent urachus, Ventricular septal defect, Intrauterine growth retardation, Patent ductus arterio... |
OMIM:192350 |
Congenital Disorder Of Deglycosylation 1 |
|
Respiratory distress, Central sleep apnea |
OMIM:615273 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Cardiomyopathy, Pulm... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Cardiomyopathy, Pulm... |
ORPHA:363958 |
Scimitar Syndrome |
|
Respiratory distress, Pneumothorax, Pulmonary arterial hypertension, Cough |
ORPHA:185 |
Semilobar Holoprosencephaly |
|
Central apnea, Abnormal pattern of respiration, Neural tube defect, Hydrocephalus, Chronic lung d... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Central apnea, Abnormal pattern of respiration, Neural tube defect, Hydrocephalus, Chronic lung d... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Central apnea, Abnormal pattern of respiration, Neural tube defect, Hydrocephalus, Chronic lung d... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Central apnea, Abnormal pattern of respiration, Neural tube defect, Hydrocephalus, Chronic lung d... |
ORPHA:93924 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory failure, Respiratory distress, Dyspnea, Hydrocephalus |
ORPHA:2556 |
Schinzel-Giedion Syndrome |
|
Respiratory distress, Recurrent pneumonia, Umbilical hernia, Neural tube defect |
ORPHA:798 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Respiratory distress, Apnea |
ORPHA:17 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory failure, Respiratory distress, Dyspnea |
ORPHA:2554 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Stridor, Pneumonia, Pneumothorax, Respiratory distress, Respiratory failure, Dyspnea |
ORPHA:79404 |
Neurofibromatosis, Type I |
|
Spina bifida, Hydrocephalus, Aqueductal stenosis |
OMIM:162200 |
Sarcoidosis, Susceptibility To, 1 |
|
Hypoxemia, Bronchiectasis, Pulmonary arterial hypertension, Cough, Pulmonary infiltrates, Restric... |
OMIM:181000 |
Kasabach-Merritt Syndrome |
|
Respiratory distress, Hypopnea |
ORPHA:2330 |
Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress |
ORPHA:177907 |
Osteoglophonic Dysplasia |
|
Respiratory distress |
OMIM:166250 |
Meier-Gorlin Syndrome 1 |
|
Respiratory distress |
OMIM:224690 |
Nail-Patella Syndrome |
|
Spina bifida |
OMIM:161200 |
Tuberous Sclerosis Complex |
|
Respiratory failure, Respiratory distress, Noncommunicating hydrocephalus |
ORPHA:805 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Rhinitis, Respiratory distress |
OMIM:305100 |
Waldenström Macroglobulinemia |
|
Pulmonary infiltrates, Epistaxis, Pleural effusion, Respiratory insufficiency |
ORPHA:33226 |
Listeriosis |
|
Respiratory failure, Respiratory distress, Pneumonia |
ORPHA:533 |
Arboleda-Tham Syndrome |
|
Respiratory distress, Neonatal respiratory distress |
OMIM:616268 |
Cleidocranial Dysplasia |
|
Respiratory distress, Neonatal respiratory distress |
OMIM:119600 |
Hallermann-Streiff Syndrome |
|
Spina bifida, Microcephaly |
OMIM:234100 |
Aortic Arch Interruption |
|
Tachypnea, Exertional dyspnea, Respiratory distress |
ORPHA:2299 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Respiratory distress |
OMIM:617088 |
Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress |
OMIM:306955 |
Doors Syndrome |
|
Arrhinencephaly, Sirenomelia, Respiratory distress, Spina bifida occulta, Aspiration pneumonia |
ORPHA:79500 |
Stüve-Wiedemann Syndrome |
|
Respiratory distress, Apnea, Asthma |
ORPHA:3206 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Nasal flaring, Asthma |
ORPHA:466943 |
Graft Versus Host Disease |
|
Pulmonary infiltrates, Pneumonia |
ORPHA:39812 |
Vexas Syndrome |
|
Pulmonary infiltrates |
OMIM:301054 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Pulmonary infiltrates |
OMIM:606367 |
Exstrophy-Epispadias Complex |
|
Abnormal heart morphology, Spina bifida, Hydrocephalus |
ORPHA:322 |
Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital |
|
Respiratory distress, Neonatal respiratory distress, Respiratory acidosis |
OMIM:614748 |
Eisenmenger Syndrome |
|
Wheezing, Hypoxemia, Pulmonary arterial hypertension, Exertional dyspnea, Respiratory distress, I... |
ORPHA:97214 |
Granulomatosis With Polyangiitis |
|
Sinusitis, Chronic pulmonary obstruction, Respiratory insufficiency, Epistaxis, Cough, Pulmonary ... |
ORPHA:900 |
Gitelman Syndrome |
|
Respiratory distress |
ORPHA:358 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Pneumonia, Rhinitis, Cough, Respiratory distress, Chronic lung disease, Respiratory failure requi... |
ORPHA:95455 |
Primary Sjögren Syndrome |
|
Airway obstruction, Abnormal pulmonary thoracic imaging finding, Lymphocytic interstitial pneumon... |
ORPHA:289390 |
Rubinstein-Taybi Syndrome 1 |
|
Respiratory distress, Spina bifida occulta, Obstructive sleep apnea |
OMIM:180849 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress |
ORPHA:83617 |
Leptospirosis |
|
Respiratory distress, Pleural effusion, Cough |
ORPHA:509 |
Kabuki Syndrome 2 |
|
Postnatal growth retardation, Intrauterine growth retardation, Short stature |
OMIM:300867 |
Chronic Graft Versus Host Disease |
|
Wheezing, Airway obstruction, Bronchiectasis, Pneumothorax, Cough, Pulmonary infiltrates, Dyspnea... |
ORPHA:99921 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Respiratory distress, Umbilical hernia |
ORPHA:2255 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Apneic episodes in infancy, Paroxysmal dyspnea, Pulmonary arterial hypertension, Exertional dyspn... |
ORPHA:99125 |
Ulbright-Hodes Syndrome |
|
Respiratory failure, Pneumothorax, Respiratory distress |
ORPHA:3404 |
Split Cord Malformation |
|
Meningocele, Myelomeningocele, Hydrocephalus, Cervical spina bifida, Lipomyelomeningocele |
ORPHA:573278 |
Plague |
|
Respiratory distress, Acute infectious pneumonia |
ORPHA:707 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Respiratory distress |
ORPHA:480880 |
Carney Triad |
|
Pulmonary infiltrates |
ORPHA:139411 |
Niemann-Pick Disease Type C |
|
Respiratory failure, Pulmonary infiltrates, Respiratory insufficiency, Aspiration pneumonia |
ORPHA:646 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Respiratory distress, Spina bifida occulta |
ORPHA:508488 |
Behçet Disease |
|
Pulmonary infiltrates, Pleural effusion, Pulmonary embolism |
ORPHA:117 |
Malt Lymphoma |
|
Pulmonary infiltrates |
ORPHA:52417 |
Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Pulmonary arterial hypertension |
ORPHA:51608 |
Autoimmune Lymphoproliferative Syndrome |
|
Pulmonary infiltrates |
ORPHA:3261 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Respiratory distress, Recurrent pneumonia |
ORPHA:99646 |
Alström Syndrome |
|
Chronic pulmonary obstruction, Pulmonary arterial hypertension, Respiratory distress, Recurrent p... |
ORPHA:64 |
Pmm2-Cdg |
|
Respiratory distress, Aspiration pneumonia |
ORPHA:79318 |
Kabuki Syndrome |
|
Hydrocephalus, Cerebral cortical atrophy, Microcephaly |
ORPHA:2322 |