Panic Disorder 1 |
|
Anxiety |
OMIM:167870 |
Severe Primary Trimethylaminuria |
|
Aggressive behavior, Anxiety, Emotional lability, Low self esteem, Depression, Negative affectivity |
ORPHA:468726 |
Bronchopulmonary Dysplasia |
|
Tracheobronchomalacia, Hyperoxemia, Pulmonary sequestration, Abnormal respiratory system physiolo... |
ORPHA:70589 |
Intellectual Developmental Disorder, Autosomal Recessive 25 |
|
Anxiety |
OMIM:614346 |
Familial Alzheimer-Like Prion Disease |
|
Cognitive impairment, Deficit in phonologic short-term memory, Emotional lability, Attention defi... |
ORPHA:280397 |
Obsessive-Compulsive Disorder |
|
Skin-picking, Depression, Anxiety |
OMIM:164230 |
Idiopathic Bronchiectasis |
|
Respiratory tract infection, Bronchiectasis, Productive cough, Abnormal respiratory system physio... |
ORPHA:60033 |
Emphysema, Hereditary Pulmonary |
|
Chronic bronchitis, Chronic pulmonary obstruction, Emphysema |
OMIM:130700 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Respiratory tract infection, Chronic bronchitis, Bronchiectasis, Honeycomb lung, Hypoxemia, Chron... |
ORPHA:79127 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Alpha-1-Antitrypsin Deficiency |
|
Chronic bronchitis, Bronchiectasis, Chronic pulmonary obstruction, Cough, Dyspnea, Panacinar emph... |
OMIM:613490 |
Allergic Bronchopulmonary Aspergillosis |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Bronchiectasis, Asthma, Emphysema, Cough |
ORPHA:1164 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Neuromuscular dysphagia, Apathy, Respiratory distress, Depression, Anxiety, Mental deterioration,... |
ORPHA:240085 |
Sarcoidosis, Susceptibility To, 2 |
|
Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Pneumothorax, Bronch... |
OMIM:612387 |
Birt-Hogg-Dubé Syndrome |
|
Pulmonary sequestration, Pneumothorax, Parathyroid adenoma, Emphysema, Medullary thyroid carcinoma |
ORPHA:122 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Desquamative interstitial pneumonitis, Absent bronchoalveolar surfactant-protein C, Paraseptal em... |
OMIM:610921 |
Recurrent Respiratory Papillomatosis |
|
Respiratory insufficiency, Choking episodes, Syncope, Respiratory distress, Recurrent pneumonia, ... |
ORPHA:60032 |
Geniospasm 1 |
|
Anxiety |
OMIM:190100 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT... |
OMIM:219080 |
Pleural Mesothelioma |
|
Abnormal pleura morphology, Abnormal respiratory system physiology, Respiratory distress, Pleural... |
ORPHA:50251 |
Heparin-Induced Thrombocytopenia |
|
Pulmonary embolism, Cerebral ischemia, Increased serum serotonin, Myocardial infarction, Abnormal... |
ORPHA:3325 |
Hypophosphatasia |
|
Respiratory insufficiency, Irritability, Emphysema |
ORPHA:436 |
Isolated Congenital Hypoglossia/Aglossia |
|
Dyspnea, Upper airway obstruction, Aspiration pneumonia, Respiratory distress |
ORPHA:141152 |
Bardet-Biedl Syndrome 16 |
|
Cognitive impairment, Recurrent respiratory infections, Hypogonadism, Respiratory distress, Bronc... |
OMIM:615993 |
Immunodeficiency 95 |
|
Respiratory distress, Respiratory failure, Recurrent viral upper respiratory tract infections, Re... |
OMIM:619773 |
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Increased circulating ACTH level, Congenital adrenal hyperplasia |
OMIM:613571 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
Bare Lymphocyte Syndrome, Type I |
|
Bronchiectasis, Recurrent bronchitis, Chronic sinusitis, Emphysema, Bronchiolitis |
OMIM:604571 |
Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Emphysema |
OMIM:614100 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Bronchiectasis, Respiratory distress, Abnormal mucociliary clearance, Recurrent respiratory infec... |
OMIM:619466 |
Gaucher Disease Type 2 |
|
Cardiac arrest, Respiratory distress, Abnormal pattern of respiration, Cough, Dysphagia, Recurren... |
ORPHA:77260 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory insufficiency, Irritability, Respiratory distress |
ORPHA:238329 |
Respiratory Distress Syndrome In Premature Infants |
|
Pulmonary edema, Respiratory distress, Dyspnea, Neonatal respiratory distress, Atelectasis, Tachy... |
OMIM:267450 |
Cutis Laxa-Marfanoid Syndrome |
|
Emphysema |
ORPHA:171719 |
Alpha-1-Antitrypsin Deficiency |
|
Emphysema |
ORPHA:60 |
Glucocorticoid Deficiency 5 |
|
Decreased circulating cortisol level, Abnormal response to ACTH stimulation test |
OMIM:617825 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Increased circulating corticosterone level, Increased circulating renin level, Increased circulat... |
OMIM:610600 |
Staphylococcal Necrotizing Pneumonia |
|
Hypotension, Pneumothorax, Pleural empyema, Hypoxemia, Respiratory distress, Tachypnea, Alcoholis... |
ORPHA:36238 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory insufficiency, Bronchiectasis, Desquamative interstitial pneumonitis, Decreased DLCO,... |
OMIM:610913 |
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
|
Portal hypertension, Emphysema |
OMIM:210050 |
Muscular Hypertonia, Lethal |
|
Pneumonia, Respiratory distress |
OMIM:254120 |
Thyroid Lymphoma |
|
Hypothyroidism, Hyperthyroidism, Respiratory distress, Hashimoto thyroiditis, Upper airway obstru... |
ORPHA:97285 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Dysphagia, Sudden... |
OMIM:254210 |
Dystonia 11, Myoclonic |
|
Anxiety, Depression, Panic attack, Agoraphobia, Alcoholism |
OMIM:159900 |
Congenital Tracheomalacia |
|
Respiratory insufficiency, Pneumothorax, Bronchiectasis, Productive cough, Pulmonary hypoplasia, ... |
ORPHA:95430 |
Fanconi Renotubular Syndrome 5 |
|
Lung adenocarcinoma, Hypertension, Emphysema, Pulmonary fibrosis, Decreased DLCO |
OMIM:618913 |
Anaplastic Thyroid Carcinoma |
|
Nodular goiter, Respiratory distress, Anaplastic thyroid carcinoma, Upper airway obstruction, Dys... |
ORPHA:142 |
Severe Acute Respiratory Syndrome |
|
Hypoxemia, Respiratory distress, Diabetes mellitus, Dyspnea, Cough, Respiratory failure requiring... |
ORPHA:140896 |
Wolfram-Like Syndrome |
|
Respiratory insufficiency, Hypothyroidism, Primary gonadal insufficiency, Dementia, Male hypogona... |
ORPHA:411590 |
Familial Hyperaldosteronism Type I |
|
Hypertension, Adrenal hyperplasia, Abnormal circulating renin, Epistaxis, Secretory adrenocortica... |
ORPHA:403 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Desquamative interstitial pneumonitis, Respiratory distress, Cough, Recurrent upper respiratory t... |
OMIM:263000 |
Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Increased circulating cortisol level, Adrenal hyperplasia |
OMIM:614190 |
N-Acetylglutamate Synthase Deficiency |
|
Aggressive behavior, Cognitive impairment, Respiratory distress |
OMIM:237310 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Gonadotropin deficiency, Oxygen desaturation on exertion, Crackles, Compensated hypothyroidism, W... |
OMIM:610978 |
Optic Atrophy 8 |
|
Visual loss, Abnormality of pattern visual evoked potentials, Central scotoma, Visual impairment |
OMIM:616648 |
Perching Syndrome |
|
Respiratory distress, Dysphagia |
OMIM:617055 |
Interstitial Lung Disease 2 |
|
Pulmonary arterial hypertension, Elevated bronchoalveolar lavage fluid neutrophil proportion, Exe... |
OMIM:178500 |
Cardiomyopathy, Dilated, 1Gg |
|
Reduced left ventricular ejection fraction, Cardiogenic shock, Congestive heart failure, Respirat... |
OMIM:613642 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Dysphagia, Sudden... |
OMIM:605809 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory insufficiency, Cognitive impairment, Motor deterioration, Ventilator dependence with ... |
ORPHA:254875 |
Meconium Aspiration Syndrome |
|
Pulmonary arterial hypertension, Aspiration pneumonia, Pneumothorax, Pulmonary insufficiency, Mat... |
ORPHA:70588 |
Pandas |
|
Abnormal fear/anxiety-related behavior, Separation insecurity, Recurrent streptococcus pneumoniae... |
ORPHA:66624 |
Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Emphysema |
OMIM:618307 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Respiratory tract infection, Bronchiectasis, Hypoxemia, Reduced forced vital capacity, Reduced FE... |
ORPHA:1303 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Cognitive impairment, Ischemic stroke, Cerebral hemorrhage, Cerebral ischemia, Motor deterioratio... |
ORPHA:136 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Increased circulating cortisol level, Hypertension, Adrenal hyperplasia, Emotional lability, Brui... |
OMIM:615830 |
Idiopathic Neonatal Atrial Flutter |
|
Supraventricular tachycardia, Reduced left ventricular ejection fraction, Abnormal EKG, Maternal ... |
ORPHA:45452 |
Familial Nasal Acilia |
|
Bronchiectasis, Respiratory distress, Chronic sinusitis, Chronic rhinitis, Dyspnea, Recurrent upp... |
ORPHA:922 |
Acute Lung Injury |
|
Abnormal pulmonary interstitial morphology, Hypoxemia, Respiratory distress, Diffuse alveolar hem... |
ORPHA:178320 |
Hypocomplementemic Urticarial Vasculitis |
|
Small vessel vasculitis, Emphysema, Pleural effusion, Restrictive ventilatory defect, Airway obst... |
ORPHA:36412 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Hypoxemia, Respiratory distress, Tachypnea, Crackles, Restrictive ventilatory defect, Cough, Craz... |
ORPHA:264675 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Bronchiectasis, Recurrent bronchopulmonary infections, Emphysema, Recurrent pneumonia, Aplasia of... |
OMIM:242700 |
Choanal Atresia |
|
Abnormal nasal mucus secretion, Inappropriate crying, Choking episodes, Respiratory distress, Chr... |
ORPHA:137914 |
Fabry Disease |
|
Respiratory insufficiency, Angina pectoris, Hypertrophic cardiomyopathy, Diabetes insipidus, Tran... |
ORPHA:324 |
Late-Onset Familial Hypoaldosteronism |
|
Increased circulating renin level, Decreased circulating aldosterone level, Abnormal circulating ... |
ORPHA:556037 |
Familial Hyperaldosteronism Type Ii |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Hypertension, Adrenal hyperplasia, Abnorma... |
ORPHA:404 |
Stargardt Disease |
|
Central scotoma, Color vision defect, Reduced visual acuity, Abnormality of visual evoked potenti... |
ORPHA:827 |
Huntington Disease-Like 2 |
|
Inertia, Apathy, Dementia, Depression, Anxiety, Subcortical dementia, Irritability, Memory impair... |
OMIM:606438 |
Hyperaldosteronism, Familial, Type I |
|
Decreased circulating renin level, Adrenogenital syndrome, Hyperaldosteronism, Adrenal hyperplasia |
OMIM:103900 |
Periodic Fever, Menstrual Cycle-Dependent |
|
Increased circulating cortisol level |
OMIM:614674 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Decreased response to growth hormone stimulation test, Respiratory distress, Lymphocytic intersti... |
OMIM:245590 |
Congenital Myopathy 10A, Severe Variant |
|
Respiratory insufficiency, Respiratory distress, Restrictive ventilatory defect, Dysphagia, Respi... |
OMIM:614399 |
Stuve-Wiedemann Syndrome 2 |
|
Pulmonary arterial hypertension, Congestive heart failure, Respiratory distress, Dysphagia |
OMIM:619751 |
Pulmonary Venoocclusive Disease 2, Autosomal Recessive |
|
Pulmonary arterial hypertension, Pulmonary capillary hemangiomatosis, Dyspnea, Cough, Pulmonary v... |
OMIM:234810 |
Familial Hyperaldosteronism Type Iii |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Hypertension, Adrenal hyperplasia, Abnorma... |
ORPHA:251274 |
Interstitial Lung Disease 1 |
|
Intralobular septal thickening, Elevated bronchoalveolar lavage fluid neutrophil proportion, Elev... |
OMIM:619611 |
Infant Acute Respiratory Distress Syndrome |
|
Hypotension, Respiratory tract infection, Pulmonary edema, Cardiac arrest, Nasal flaring, Hypoxem... |
ORPHA:70587 |
Malaria |
|
Cognitive impairment, Respiratory distress |
ORPHA:673 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT... |
OMIM:615954 |
Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress |
OMIM:616341 |
Asbestos Intoxication |
|
Oxygen desaturation on exertion, Pleural thickening, Hepatojugular reflux, Decreased DLCO, Nonpro... |
ORPHA:2302 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Increased circulating cortisol level, Decreased circulating ACTH level, Hypertension, Emotional l... |
OMIM:610475 |
Epilepsy, Progressive Myoclonic, 12 |
|
Mental deterioration, Attention deficit hyperactivity disorder, Depression, Anxiety |
OMIM:619191 |
Laryngotracheal Angioma |
|
Intercostal retractions, Respiratory distress, Apnea, Cough, Stridor, Wheezing |
ORPHA:137935 |
Lipoid Congenital Adrenal Hyperplasia |
|
Adrenogenital syndrome, Congenital adrenal hyperplasia |
OMIM:201710 |
Cryptogenic Organizing Pneumonia |
|
Pneumothorax, Hypoxemia, Respiratory distress, Crackles, Restrictive ventilatory defect, Dyspnea,... |
ORPHA:1302 |
Early-Onset Familial Hypoaldosteronism |
|
Increased circulating renin level, Decreased circulating aldosterone level, Abnormal circulating ... |
ORPHA:556030 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased serum testosterone level, Increased circulating cortisol level, Decreased circulating d... |
OMIM:610489 |
Lymphangioleiomyomatosis |
|
Pneumothorax, Cognitive impairment, Emphysema, Restrictive ventilatory defect, Dyspnea, Chylothor... |
ORPHA:538 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory failure, Dyspnea, Respiratory distress |
ORPHA:1832 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Mental deterioration, Memory impairment, Respiratory distress, Dysphagia |
ORPHA:240103 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Abnormal pulmonary interstitial morphology, Pulmonary hemorrhage, Hemosiderin-laden macrophages i... |
OMIM:616414 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pneumothorax, Bronchiectasis, Respiratory distress, Chronic pulmonary obstruction, Pleural effusi... |
ORPHA:411703 |
Myopathy And Diabetes Mellitus |
|
Type I diabetes mellitus, Respiratory distress, Dementia |
ORPHA:2596 |
Congenital Pulmonary Lymphangiectasia |
|
Pulmonary arterial hypertension, Respiratory distress, Chronic pulmonary obstruction, Congestive ... |
ORPHA:2414 |
Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Pulmonary arterial hypertension, Hyperaldosteronism, Intracranial hemorrhage, Adrenal hyperplasia... |
ORPHA:369929 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Cognitive impairment, Cerebral ischemia, Respiratory distress, Agitation, Emotional lability, Anx... |
ORPHA:927 |
Immunodeficiency 89 And Autoimmunity |
|
Bronchiectasis, Asthma, Pulmonary bulla, Pleural thickening, Recurrent lower respiratory tract in... |
OMIM:619632 |
Autoimmune Polyendocrinopathy Type 1 |
|
Decreased circulating aldosterone level, Increased circulating cortisol level, Adrenal hyperplasi... |
ORPHA:3453 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress |
OMIM:619099 |
Acquired Methemoglobinemia |
|
Syncope, Hypoxemia, Respiratory distress, Arrhythmia, Dyspnea, Palpitations, Anxiety, Tachycardia |
ORPHA:464453 |
Hyperaldosteronism, Familial, Type Iii |
|
Decreased circulating renin level, Hyperaldosteronism, Adrenal hyperplasia, Polydipsia |
OMIM:613677 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Cognitive impairment, Increased circulating cortisol level, Type II diabetes mellitus, Decreased ... |
ORPHA:189439 |
Glucocorticoid Deficiency 2 |
|
Increased circulating ACTH level, Decreased circulating cortisol level |
OMIM:607398 |
Slc35A1-Cdg |
|
Pulmonary hemorrhage, Subcutaneous hemorrhage, Hypoxemia, Respiratory distress, Abnormal bleeding... |
ORPHA:238459 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Hyperaldosteronism, Cognitive impairment, Increased circulating cortisol level, Macronodular adre... |
ORPHA:189427 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Dilated cardiomyopathy, Respiratory distress, Respiratory insufficiency due to muscle weakness |
OMIM:300580 |
Netherton Syndrome |
|
Asthma, Recurrent respiratory infections, Emphysema |
ORPHA:634 |
Perry Syndrome |
|
Respiratory insufficiency, Inappropriate behavior, Frontotemporal dementia, Hypoventilation, Suic... |
OMIM:168605 |
Nocardiosis |
|
Pneumothorax, Productive cough, Pleuritis, Thyroiditis, Respiratory distress, Emphysema, Pleural ... |
ORPHA:31204 |
Meier-Gorlin Syndrome 4 |
|
Breast hypoplasia, Cryptorchidism, Emphysema |
OMIM:613804 |
Laryngomalacia |
|
Congenital laryngeal stridor, Respiratory distress |
OMIM:150280 |
Early-Onset Schizophrenia |
|
Diminished motivation, Abnormal emotion/affect behavior, Cognitive impairment, Suicidal ideation,... |
ORPHA:96369 |
Sarcoidosis, Susceptibility To, 1 |
|
Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Bronchiectasis, Enla... |
OMIM:181000 |
Primary Unilateral Adrenal Hyperplasia |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Decreased circulating renin level, Hyperte... |
ORPHA:231580 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Dysphagia, Hypertrophic cardiomyopathy, Respiratory distress, Respiratory insufficiency due to mu... |
OMIM:613561 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Hypertrophic cardiomyopathy, Low-output congestive heart failure, Respiratory distress |
ORPHA:91130 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Precocious puberty in females, Increased urinary 11-deoxycorticosterone level, Adrenocorticotropi... |
ORPHA:90793 |
Common Variable Immunodeficiency |
|
Recurrent respiratory infections, Bronchiectasis, Recurrent bronchitis, Purpura, Emphysema, Restr... |
ORPHA:1572 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cerebral visual impairment, Abnormality of visual evoked potentials |
ORPHA:1389 |
Cutis Laxa, Autosomal Dominant 1 |
|
Bronchiectasis, Congestive heart failure, Emphysema, Aortic regurgitation, Mitral regurgitation, ... |
OMIM:123700 |
Brain-Lung-Thyroid Syndrome |
|
Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Thyroid hemiagenesis... |
ORPHA:209905 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Subretinal pigment epithelium hemorrhage, Psychomotor deterioration, Dementia, Emphysema |
ORPHA:357074 |
Childhood Disintegrative Disorder |
|
Abnormal emotion/affect behavior, Social and occupational deterioration, Motor deterioration, Dem... |
ORPHA:168782 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Macroorchidism, Abnormal fear/anxiety-related behavior, Aggressive behavior, Hyperactivity, Abnor... |
ORPHA:3077 |
Chronic Pneumonitis Of Infancy |
|
Intercostal retractions, Hypoxemia, Reduced forced vital capacity, Respiratory distress, Cough, H... |
ORPHA:91359 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Hypoplasia of the thymus, Pulmonary hypoplasia, Emphysema, Recurrent pneumonia, Peripheral pulmon... |
OMIM:613177 |
Loeys-Dietz Syndrome 4 |
|
Pneumothorax, Bruising susceptibility, Emphysema |
OMIM:614816 |
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress |
OMIM:617977 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Cardiomyopathy |
ORPHA:26792 |
X-Linked Centronuclear Myopathy |
|
Respiratory failure requiring assisted ventilation, Pneumonia, Respiratory distress, Recurrent re... |
ORPHA:596 |
Laryngotracheoesophageal Cleft |
|
Aspiration, Choking episodes, Impaired oropharyngeal swallow response, Cough, Dyspnea, Stridor, N... |
ORPHA:2004 |
Myotonic Dystrophy 1 |
|
Hypogonadism, Respiratory distress, Testicular atrophy, Dysphagia, Atrial flutter, First degree a... |
OMIM:160900 |
Nipah Virus Disease |
|
Hypotension, Cough, Respiratory distress, Recurrent pharyngitis |
ORPHA:99825 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Progressive neurologic deterioration, Respiratory distress |
OMIM:612075 |
Folinic Acid-Responsive Seizures |
|
Apnea, Irritability, Respiratory distress |
ORPHA:79097 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Intracranial hemorrhage, Congestive heart failure, Abnormality of the pulmonary artery, Emphysema... |
ORPHA:363618 |
Chronic Beryllium Disease |
|
Respiratory insufficiency, Reticulonodular pattern on pulmonary HRCT, Abnormal respiratory system... |
ORPHA:133 |
Canavan Disease |
|
Blindness, Abnormality of visual evoked potentials, Visual impairment |
ORPHA:141 |
Insulinoma |
|
Hyperinsulinemia, Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Hyperinsuli... |
ORPHA:97279 |
Adrenocortical Carcinoma |
|
Increased serum estradiol, Hyperaldosteronism, Anxiety, Increased circulating cortisol level, Adr... |
ORPHA:1501 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory insufficiency, Nocturnal hypoventilation, Respiratory distress, Dyspnea, Stridor, Dys... |
OMIM:211530 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory failure requiring assisted ventilation, Ventilator dependence with inability to wean,... |
ORPHA:254864 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress |
OMIM:300934 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Supravalvular aortic stenosis, Recurrent respiratory infections, Emphysema |
OMIM:219100 |
Congenital Diaphragmatic Hernia |
|
Pulmonary hypoplasia, Hypoxemia, Respiratory distress |
ORPHA:2140 |
Long Qt Syndrome 13 |
|
Pulmonary embolism, Torsade de pointes, Permanent atrial fibrillation, Reduced left ventricular e... |
OMIM:613485 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Elevated circulating thyroid-stimulating hormone concentration, Respiratory distress, Decreased c... |
ORPHA:226313 |
Auriculocondylar Syndrome 2 |
|
Apnea, Snoring, Respiratory distress |
OMIM:614669 |
Oromandibular Dystonia |
|
Respiratory distress, Depression, Dysphagia |
ORPHA:93958 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6 |
|
Paradoxical respiration, Respiratory distress, Recurrent acute respiratory tract infection |
OMIM:620011 |
Bronchial Neuroendocrine Tumor |
|
Hypotension, Abnormal pulmonary interstitial morphology, Facial telangiectasia, Increased circula... |
ORPHA:97287 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenogenital syndrome, Hypertension, Adrenal hyperplasia |
OMIM:201910 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Hypertension, Pulmonary hypoplasia, Respiratory distress |
OMIM:616733 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory insufficiency, Cognitive impairment, Respiratory distress, Cryptorchidism |
ORPHA:1145 |
Lujo Hemorrhagic Fever |
|
Hypotension, Myocarditis, Rhinitis, Excessive bleeding after a venipuncture, Purpura, Respiratory... |
ORPHA:319213 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Reduced visual acuity, Abnormality of pattern visual evoked potentials |
ORPHA:357225 |
Ciliary Dyskinesia, Primary, 2 |
|
Bronchiectasis, Immotile cilia, Respiratory distress, Sinusitis, Recurrent respiratory infections... |
OMIM:606763 |
Meier-Gorlin Syndrome 6 |
|
Tracheobronchomalacia, Decreased response to growth hormone stimulation test, Emphysema, Delayed ... |
OMIM:616835 |
Inhalational Anthrax |
|
Hypotension, Respiratory distress, Internal hemorrhage, Abnormal sweat gland morphology, Dyspnea |
ORPHA:247257 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Pneumothorax, Pulmonary bleb, Repeated pneumothoraces, Hemothorax, Nodular pattern on pulmonary H... |
OMIM:130050 |
Sarcoidosis |
|
Hypothyroidism, Pneumothorax, Bronchiectasis, Heart block, Pleural effusion, Parotitis, Diabetes ... |
ORPHA:797 |
Congenital Laryngeal Web |
|
Respiratory distress, Stridor |
ORPHA:2374 |
Acute Interstitial Pneumonia |
|
Nodular pattern on pulmonary HRCT, Bronchiectasis, Subpleural honeycombing, Hypoxemia, Peribronch... |
ORPHA:79126 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Pulmonary arterial hypertension, Intraalveolar phospholipid accumulation, Desquamative interstiti... |
OMIM:265120 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress |
OMIM:614741 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Reduced visual acuity, Nyctalopia, Abnormal flash visual evoked potentials |
OMIM:618195 |
Avian Influenza |
|
Pneumothorax, Productive cough, Hypoxemia, Respiratory distress, Congestive heart failure, Pleura... |
ORPHA:454836 |
Chitayat Syndrome |
|
Tracheomalacia, Abnormal pulmonary interstitial morphology, Recurrent respiratory infections, Res... |
OMIM:617180 |
Atrial Septal Defect, Sinus Venosus Type |
|
Systolic heart murmur, Supraventricular arrhythmia, Premature atrial contractions, Airway obstruc... |
ORPHA:99105 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hypotension, Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Elevate... |
ORPHA:90791 |
Neonatal Marfan Syndrome |
|
Heart murmur, Decreased testicular size, Hypoxemia, Emphysema, Mitral regurgitation, Neonatal res... |
ORPHA:284979 |
Pulmonary Capillary Hemangiomatosis |
|
Elevated pulmonary artery pressure, Exertional dyspnea, Hemothorax, Pulmonary edema, Hypoxemia, P... |
ORPHA:199241 |
Primary Dystonia, Dyt4 Type |
|
Respiratory distress, Dementia, Dysphagia |
ORPHA:98805 |
Cushing Disease |
|
Pituitary corticotropic cell adenoma, Suicidal ideation, Increased circulating cortisol level, Ca... |
ORPHA:96253 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Pulmonary hypoplasia, Interstitial emphysema, Bronchiectasis, Dysphagia |
OMIM:619708 |
De Barsy Syndrome |
|
Cryptorchidism, Recurrent sinopulmonary infections, Emphysema |
ORPHA:2962 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Respiratory distress |
OMIM:616974 |
Surfactant Metabolism Dysfunction, Pulmonary, 5 |
|
Respiratory insufficiency, Intraalveolar phospholipid accumulation, Exertional dyspnea, Dyspnea, ... |
OMIM:614370 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Upper airway obstruction, Respiratory distress, Abnormal capillary physiology |
ORPHA:100057 |
Complete Atrioventricular Septal Defect |
|
Elevated pulmonary artery pressure, Systolic heart murmur, Right bundle branch block, Third heart... |
ORPHA:1329 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Sudden cardiac death, Right bundle branch block, Pulmonary edema, Reduced left ventricular ejecti... |
OMIM:115197 |
Pulmonary Arteriovenous Malformation |
|
Pulmonary arterial hypertension, Pulmonary hemorrhage, Telangiectasia, Hemothorax, Pleural empyem... |
ORPHA:2038 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Intraalveolar phospholipid accumulation, Recurrent respiratory infections, Hypoxemia, Lung absces... |
OMIM:610910 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenogenital syndrome, Adrenal hyperplasia |
OMIM:202110 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Cardiomyopathy, Dyspnea, Respiratory distress, Cough |
ORPHA:86812 |
Lethal Recessive Chondrodysplasia |
|
Respiratory distress |
ORPHA:1423 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Neonatal respiratory distress, Respiratory distress |
OMIM:615042 |
Holocarboxylase Synthetase Deficiency |
|
Irritability, Respiratory distress, Tachypnea |
ORPHA:79242 |
Tuberous Sclerosis Complex |
|
Respiratory tract infection, Aggressive behavior, Hyperactivity, Self-injurious behavior, Parathy... |
ORPHA:805 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Respiratory insufficiency, Abnormal pulmonary interstitial morphology, Emphysema, Cough, Bile duc... |
OMIM:613658 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Respiratory insufficiency, Pneumothorax, Abnormal cardiac ventricular function, Congestive heart ... |
ORPHA:90349 |
Meier-Gorlin Syndrome 1 |
|
Breast hypoplasia, Cryptorchidism, Respiratory distress, Emphysema |
OMIM:224690 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Respiratory insufficiency, Abnormal fear/anxiety-related behavior, Apathy, Ventilator dependence ... |
ORPHA:100924 |
Nasolacrimal Duct Cyst |
|
Abnormal breath sound, Intercostal retractions, Inappropriate crying, Paroxysmal dyspnea, Stridor... |
ORPHA:141083 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory failure, Recurrent respiratory infections, Dyspnea, Respiratory distress |
ORPHA:2759 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Macroorchidism, Increased circulating ACTH level, Decreased circulating cortisol level, Adrenal h... |
ORPHA:90790 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Irritability, Restlessness, Respiratory distress |
ORPHA:544503 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Cognitive impairment, Suicidal ideation, Attention deficit hyperactivity disorder, Depression, An... |
ORPHA:98784 |
Oculocutaneous Albinism Type 1 |
|
Amblyopia, Abnormality of visual evoked potentials, Photophobia, Reduced visual acuity |
ORPHA:352731 |
Mohr-Tranebjaerg Syndrome |
|
Cerebral visual impairment, Central scotoma, Visual loss, Color vision defect, Visual impairment,... |
ORPHA:52368 |
Stt3B-Cdg |
|
Respiratory distress, Cryptorchidism |
ORPHA:370924 |
Congenital Alpha2-Antiplasmin Deficiency |
|
Hemothorax, Persistent bleeding after trauma, Abnormal umbilical stump bleeding, Abnormal bleedin... |
ORPHA:79 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Episodic tachypnea, Intermittent hyperventilation, Apneic episodes in infancy, Respiratory distre... |
ORPHA:348 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Pituitary corticotropic cell adenoma, Suicidal ideation, Capillary fragility, Atypical pulmonary ... |
ORPHA:99889 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness |
ORPHA:1143 |
Myotubular Myopathy With Abnormal Genital Development |
|
Unilateral cryptorchidism, Bilateral cryptorchidism, Respiratory distress, Atelectasis |
OMIM:300219 |
Tularemia |
|
Respiratory distress, Pleural effusion, Cough, Pneumonia, Tachycardia |
ORPHA:3392 |
Infantile Krabbe Disease |
|
Inappropriate crying, Respiratory distress, Psychomotor deterioration, Abnormal heart rate variab... |
ORPHA:206436 |
Gaucher Disease, Perinatal Lethal |
|
Petechiae, Apathy, Purpura, Pulmonary hypoplasia, Respiratory distress, Apnea, Progressive neurol... |
OMIM:608013 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Respiratory distress, Dysphagia |
ORPHA:89844 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory insufficiency, Respiratory distress, Dilated cardiomyopathy, Hypertrophic cardiomyopa... |
OMIM:614299 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Cryptorchidism |
OMIM:615597 |
Diaphanospondylodysostosis |
|
Respiratory distress |
ORPHA:66637 |
Tetanus |
|
Hypertension, Respiratory distress, Dysphagia, Bradycardia, Tachycardia, Tachypnea |
ORPHA:3299 |
Ellis Van Creveld Syndrome |
|
Aplasia/Hypoplasia of the lungs, Cryptorchidism, Emphysema |
ORPHA:289 |
Synaptic Congenital Myasthenic Syndromes |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Hypoventilation, Exertional dyspnea, ... |
ORPHA:98915 |
Cocaine Intoxication |
|
Hypotension, Pneumothorax, Ischemic stroke, Ventricular arrhythmia, Supraventricular arrhythmia, ... |
ORPHA:90068 |
Leigh Syndrome With Cardiomyopathy |
|
Respiratory distress, Congestive heart failure, Dilated cardiomyopathy, Apnea, Hypertrophic cardi... |
ORPHA:70474 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Progressive visual loss, Constriction of peripheral visual field, Abnormality of visual evoked po... |
ORPHA:1215 |
Mercury Poisoning |
|
Hypotension, Interstitial pneumonitis, Respiratory distress, Hypertension, Dyspnea, Respiratory f... |
ORPHA:330021 |
Diffuse Alveolar Hemorrhage |
|
Hypoxemia, Restrictive ventilatory defect, Airway obstruction, Dyspnea, Cough, Pulmonary venous h... |
ORPHA:90060 |
Lymphoid Interstitial Pneumonia |
|
Respiratory tract infection, Subpleural interstitial thickening, Bronchiectasis, Raynaud phenomen... |
ORPHA:79128 |
Familial Isolated Restrictive Cardiomyopathy |
|
Pulmonary edema, Supraventricular arrhythmia, Syncope, Hypertrophic cardiomyopathy, Abnormal left... |
ORPHA:75249 |
Glucocorticoid Resistance, Generalized |
|
Increased serum testosterone level, Increased circulating cortisol level, Increased circulating A... |
OMIM:615962 |
Pulmonary Hypertension, Primary, 1 |
|
Pulmonary arterial hypertension, Telangiectasia, Pulmonary arterial medial hypertrophy, Pulmonary... |
OMIM:178600 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory insufficiency, Respiratory tract infection, Left ventricular outflow tract obstructio... |
ORPHA:365 |
Alternating Hemiplegia Of Childhood |
|
Abnormal T-wave, Cardiomyopathy, Aggressive behavior, Aspiration, Respiratory distress, Emotional... |
ORPHA:2131 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Elevated circulating 17-hydroxyprogesterone concentration, Adrenal insufficiency, Impaired cortis... |
OMIM:201810 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory insufficiency, Respiratory tract infection, Left ventricular outflow tract obstructio... |
ORPHA:308552 |
Microlissencephaly-Micromelia Syndrome |
|
Hypoparathyroidism, Respiratory distress, Abnormal calcium-phosphate regulating hormone level |
ORPHA:50810 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Color vision defect, Slow decrease in visual acuity, Abnormality of visual evoked potentials, Cen... |
OMIM:601152 |
Scimitar Syndrome |
|
Pulmonary arterial hypertension, Pulmonary sequestration, Pneumothorax, Left-to-right shunt, Pulm... |
ORPHA:185 |
Keutel Syndrome |
|
Recurrent bronchitis, Chronic sinusitis, Hypertension, Emphysema, Pulmonary artery hypoplasia, Ai... |
OMIM:245150 |
Congenital Enterovirus Infection |
|
Hypotension, Myocarditis, Abnormal bleeding, Respiratory distress, Pleural effusion, Irritability... |
ORPHA:292 |
Ataxia With Vitamin E Deficiency |
|
Abnormality of visual evoked potentials, Nyctalopia, Visual impairment |
ORPHA:96 |
Moebius Syndrome |
|
Hypogonadotropic hypogonadism, Dysphagia, Respiratory distress, Decreased testicular size |
OMIM:157900 |
Hemorrhagic Fever-Renal Syndrome |
|
Hypotension, Pleural effusion, Shock, Palpitations, Capillary leak, Hematemesis, Pneumonia, Respi... |
ORPHA:340 |
Multiple Carboxylase Deficiency |
|
Respiratory distress, Tachypnea |
ORPHA:148 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Increased serum testosterone level, Hydrocele testis, Congenital adrenal hyperplasia |
ORPHA:96181 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Abnormality of visual evoked potentials, Visual impairment |
ORPHA:1933 |
Congenital Myasthenic Syndrome |
|
Episodic respiratory distress, Central sleep apnea, Choking episodes, Intermittent episodes of re... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Episodic respiratory distress, Central sleep apnea, Choking episodes, Intermittent episodes of re... |
ORPHA:98914 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress |
ORPHA:261304 |
Developmental And Epileptic Encephalopathy 3 |
|
Abnormality of visual evoked potentials |
OMIM:609304 |
Hypoglossia With Situs Inversus |
|
Upper airway obstruction, Respiratory distress |
OMIM:612776 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Irregular respiration, Cardiac arrest, Respiratory distress, Hypertrophic cardiomyopathy, Inspira... |
OMIM:604377 |
Generalized Glucocorticoid Resistance Syndrome |
|
Precocious puberty, Decreased circulating aldosterone level, Increased circulating cortisol level... |
ORPHA:786 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Adrenogenital syndrome, Increased serum testosterone level, Decreased circulating aldosterone lev... |
OMIM:202010 |
Carnitine Deficiency, Systemic Primary |
|
Congestive heart failure, Respiratory distress, Hypertrophic cardiomyopathy, Mitral regurgitation... |
OMIM:212140 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Pulmonary artery stenosis, Pulmonary hypoplasia, Bilateral lung agenesis, Adrenal gland agenesis |
OMIM:611812 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory failure, Pulmonary hypoplasia, Respiratory distress |
OMIM:617895 |
Marfan Syndrome |
|
Congestive heart failure, Pulmonary artery dilatation, Emphysema, Attention deficit hyperactivity... |
ORPHA:558 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Pulmonary arterial hypertension, Supernumerary nipple, Respiratory distress, Cryptorchidism, Cong... |
ORPHA:2519 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Telangiectasia, Respiratory distress |
OMIM:608799 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Cardiomyopathy |
ORPHA:79312 |
Alpha-2-Plasmin Inhibitor Deficiency |
|
Joint hemorrhage, Hemothorax, Bruising susceptibility, Persistent bleeding after trauma |
OMIM:262850 |
Marfan Syndrome |
|
Pneumothorax, Congestive heart failure, Pulmonary artery dilatation, Emphysema, Aortic regurgitat... |
OMIM:154700 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Pulmonary artery aneurysm, Pulmonary insufficiency, Pulmonary artery dilatation, Emphysema, Brady... |
OMIM:614437 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Hypertrophic cardiomyopathy, Recurrent respiratory infections, Attention deficit hyperactivity di... |
OMIM:619383 |
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Primary gonadal insufficiency, Decreased serum estradiol, Abnormal circulating corticosterone lev... |
ORPHA:90796 |
Autosomal Dominant Cutis Laxa |
|
Bronchiectasis, Congestive heart failure, Emphysema, Aortic regurgitation, Mitral regurgitation, ... |
ORPHA:90348 |
Odontochondrodysplasia 1 |
|
Pulmonary hypoplasia, Recurrent respiratory infections, Respiratory distress |
OMIM:184260 |
Atrial Septal Defect, Ostium Secundum Type |
|
Systolic heart murmur, Supraventricular arrhythmia, Breathing dysregulation, Abnormal left ventri... |
ORPHA:99103 |
Tetrasomy 5P |
|
Pulmonary arterial hypertension, Heart murmur, Pulmonary hypoplasia, Respiratory distress, Conges... |
ORPHA:3309 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Episodic tachypnea, Respiratory distress, Dilated cardiomyopathy, Prolonged QT interval, Ventricu... |
ORPHA:26793 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress |
ORPHA:289916 |
Fixed Subaortic Stenosis |
|
Systolic heart murmur, Left ventricular outflow tract obstruction, Exertional dyspnea, Diastolic ... |
ORPHA:3092 |
Ethylene Glycol Poisoning |
|
Hypotension, Pulmonary edema, Congestive heart failure, Hypertension, Shock, Tachycardia, Euphori... |
ORPHA:31826 |
Idiopathic Hypereosinophilic Syndrome |
|
Pulmonary embolism, Asthma, Transient ischemic attack, Supraventricular arrhythmia, Raynaud pheno... |
ORPHA:3260 |
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Photophobia, High myopia, Abnormality of visual evoked potentials |
OMIM:614457 |
Agnathia-Otocephaly Complex |
|
Tracheomalacia, Pulmonary hypoplasia, Respiratory distress |
OMIM:202650 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Abnormal response to human chorionic gonadotrophin stimulation test, Decreased circulating dehydr... |
ORPHA:95699 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Myopia, Abnormality of visual evoked potentials |
ORPHA:2971 |
Pulmonary Alveolar Microlithiasis |
|
Respiratory insufficiency, Bronchitis, Respiratory tract infection, Testicular microlithiasis, Pn... |
ORPHA:60025 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Pulmonary arterial hypertension, Bradycardia, Respiratory distress |
OMIM:619272 |
Odontochondrodysplasia |
|
Respiratory distress |
ORPHA:166272 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Hypoventilation, Aspiration pneumonia, Respiratory distress, Apnea, Recurrent pneumonia |
ORPHA:314655 |
Esophageal Atresia |
|
Bronchitis, Oral aversion, Aspiration, Maternal diabetes, Respiratory distress, Chronic pulmonary... |
ORPHA:1199 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hypotension, Pulmonary edema, T-wave inversion, ST segment depression, Respiratory distress, Cong... |
OMIM:261740 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Absent gallbladder, Ischemic stroke, Transient ischemic attack, Unilateral lung agenesis, Emphyse... |
ORPHA:500150 |
Toxic Epidermal Necrolysis |
|
Sudden cardiac death, Abnormal pleura morphology, Respiratory distress, Restrictive ventilatory d... |
ORPHA:537 |
Pulmonary Hypertension, Primary, 3 |
|
Pulmonary arterial hypertension, Increased pulmonary vascular resistance, Dyspnea, Elevated pulmo... |
OMIM:615343 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Amblyopia, Abnormality of visual evoked potentials |
OMIM:617523 |
Craniofaciofrontodigital Syndrome |
|
Pulmonary arterial hypertension, Persistent fetal circulation, Respiratory distress, Congestive h... |
ORPHA:363705 |
Cardiogenic Shock |
|
Hypotension, Impaired myocardial contractility, Abnormal EKG, Elevated jugular venous pressure, C... |
ORPHA:97292 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory insufficiency, Dilated cardiomyopathy, Congestive heart failure, Respiratory distress... |
ORPHA:367 |
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation |
|
Myopia, Cerebral visual impairment, Hypermetropia, Abnormality of visual evoked potentials |
OMIM:616875 |
Gm2 Gangliosidosis, Ab Variant |
|
Inappropriate behavior, Abnormal fear/anxiety-related behavior, Cognitive impairment, Anxiety |
ORPHA:309246 |
Mogs-Cdg |
|
Hypothyroidism, Hypoventilation, Pulmonary edema, Respiratory distress, Hydrocele testis, Apnea, ... |
ORPHA:79330 |
Friedreich Ataxia |
|
Visual field defect, Reduced visual acuity, Abnormality of visual evoked potentials, Visual impai... |
OMIM:229300 |
Cryptococcosis |
|
Nodular pattern on pulmonary HRCT, Respiratory distress, Pleural effusion, Dyspnea, Cough, Mental... |
ORPHA:1546 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Blindness, Visual loss, Myopia, Reduced visual acuity, Abnormality of visual evoked potentials, A... |
ORPHA:168491 |
Bacterial Toxic-Shock Syndrome |
|
Hypotension, Respiratory tract infection, Myocarditis, Respiratory distress, Ecchymosis, Shock, S... |
ORPHA:36234 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Respiratory distress, Anxiety |
ORPHA:438216 |
Episodic Ataxia Type 1 |
|
Respiratory distress |
ORPHA:37612 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress |
OMIM:617102 |
Aortic Arch Interruption |
|
Systolic heart murmur, Left ventricular outflow tract obstruction, Tricuspid regurgitation, Aorto... |
ORPHA:2299 |
Viss Syndrome |
|
Pulmonary arterial hypertension, Hypothyroidism, Pulmonary artery aneurysm, Pneumothorax, Asthma,... |
OMIM:619472 |
Prader-Willi Syndrome Due To Translocation |
|
Anterior pituitary hypoplasia, Head-banging, Decreased response to growth hormone stimulation tes... |
ORPHA:177907 |
Late-Infantile/Juvenile Krabbe Disease |
|
Visual loss, Blindness, Abnormality of visual evoked potentials, Visual impairment |
ORPHA:206443 |
Atrial Septal Defect, Coronary Sinus Type |
|
Pulmonary arterial hypertension, Systolic heart murmur, Exertional dyspnea, Transient ischemic at... |
ORPHA:99104 |
Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress |
OMIM:618201 |
Adnp Syndrome |
|
Aggressive behavior, Aspiration, Respiratory distress, Recurrent upper respiratory tract infectio... |
ORPHA:404448 |
Hughes-Stovin Syndrome |
|
Pulmonary arterial hypertension, Pulmonary embolism, Pulmonary artery aneurysm, Cardiorespiratory... |
ORPHA:228116 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Cerebellar hemorrhage, Respiratory distress, Cardiomyopathy |
OMIM:251000 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Pulmonary arterial hypertension, Congestive heart failure, Respiratory distress, Central apnea, R... |
OMIM:616482 |
Crimean-Congo Hemorrhagic Fever |
|
Hypotension, Hemoperitoneum, Adrenal insufficiency, Tachycardia, Abnormal left ventricular functi... |
ORPHA:99827 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Pulmonary arterial hypertension, Pulmonary embolism, Hypocapnia, Right bundle branch block, Abnor... |
ORPHA:70591 |
Oculocutaneous Albinism Type 1A |
|
Photophobia, Abnormality of visual evoked potentials, Visual impairment |
ORPHA:79431 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormality of visual evoked potentials |
OMIM:601455 |
Gitelman Syndrome |
|
Parathyroid adenoma, Neoplasm of the pancreas, Graves disease, Palpitations, Polydipsia, Type II ... |
ORPHA:358 |
Diaphanospondylodysostosis |
|
Respiratory insufficiency, Tracheomalacia, Pulmonary hypoplasia, Respiratory distress |
OMIM:608022 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormality of visual evoked potentials |
ORPHA:320401 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory failure, Dyspnea, Respiratory distress |
ORPHA:2707 |
Hereditary Angioedema Type 1 |
|
Hypotension, Respiratory distress, Dyspnea, Dysphagia, Inspiratory stridor |
ORPHA:100050 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Recurrent respiratory infections, Respiratory distress |
ORPHA:329178 |
Mepan Syndrome |
|
Reduced visual acuity, Abnormality of visual evoked potentials |
ORPHA:508093 |
Pituitary Adenoma 4, Acth-Secreting |
|
Abnormal fear/anxiety-related behavior, Increased circulating ACTH level, Purpura, Pituitary aden... |
OMIM:219090 |
Lymphatic Malformation 7 |
|
Pleural effusion, Respiratory distress, Pulmonary edema, Chylothorax |
OMIM:617300 |
Radio-Renal Syndrome |
|
Respiratory distress, Pleural effusion, Dyspnea, Chylothorax, Respiratory failure |
ORPHA:3015 |
Restrictive Dermopathy 2 |
|
Respiratory distress |
OMIM:619793 |
Oculopharyngodistal Myopathy 1 |
|
Paroxysmal atrial fibrillation, Aspiration, Reduced forced vital capacity, Respiratory distress, ... |
OMIM:164310 |
Eisenmenger Syndrome |
|
Aortopulmonary window, Ventricular arrhythmia, Supraventricular arrhythmia, Angina pectoris, Palp... |
ORPHA:97214 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Exertional dyspnea, Respiratory distress, Hypertrophic cardiomyopathy, Respiratory failure, Respi... |
OMIM:220110 |
Japanese Encephalitis |
|
Cognitive impairment, Pulmonary edema, Respiratory paralysis, Irregular respiration, Respiratory ... |
ORPHA:79139 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
|
Visual loss, Abnormality of visual evoked potentials |
OMIM:125310 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Stridor |
OMIM:615595 |
Arterial Tortuosity Syndrome |
|
Cardiac arrest, Respiratory distress, Congestive heart failure, Hypertension, Cardiorespiratory a... |
ORPHA:3342 |
Q Fever |
|
Abnormal pulmonary interstitial morphology, Myocarditis, Purpura, Respiratory distress, Pleural e... |
ORPHA:781 |
Mucopolysaccharidosis-Plus Syndrome |
|
Recurrent bronchopulmonary infections, Respiratory distress, Congestive heart failure, Recurrent ... |
OMIM:617303 |
Familial Chylomicronemia Syndrome |
|
Pulmonary embolism, Abnormal emotion/affect behavior, Dementia, Diabetes mellitus, Depression, Me... |
ORPHA:444490 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Respiratory distress, Cryptorchidism, Neonatal respiratory distress, Tracheomalacia, Cardiomyopathy |
OMIM:217980 |
Wrinkly Skin Syndrome |
|
Cryptorchidism, Recurrent sinopulmonary infections, Emphysema |
ORPHA:2834 |
Farber Disease |
|
Respiratory insufficiency, Nodular pattern on pulmonary HRCT, Respiratory distress, Recurrent upp... |
ORPHA:333 |
Triosephosphate Isomerase Deficiency |
|
Respiratory insufficiency, Respiratory distress, Congestive heart failure, Respiratory failure, C... |
OMIM:615512 |
Pulmonary Hypertension, Primary, 4 |
|
Pulmonary arterial hypertension, Elevated pulmonary artery pressure, Right bundle branch block, I... |
OMIM:615344 |
3-Methylglutaconic Aciduria, Type Viib |
|
Abnormal bleeding, Congestive heart failure, Respiratory distress, Recurrent pneumonia, Prolonged... |
OMIM:616271 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Pulmonary fibrosis, Respiratory distress |
OMIM:612852 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Visual loss, Abnormality of visual evoked potentials |
OMIM:256600 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Pulmonary arterial hypertension, Pulmonary embolism, Respiratory distress, Dementia, Dilated card... |
ORPHA:79282 |
Pelizaeus-Merzbacher Disease |
|
Abnormality of visual evoked potentials, Visual impairment |
ORPHA:702 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Pulmonary hypoplasia, Respiratory distress |
OMIM:151210 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Respiratory distress |
OMIM:271225 |
Congenital Alveolar Capillary Dysplasia |
|
Pulmonary arterial hypertension, Absent gallbladder, Respiratory distress, Annular pancreas, Aort... |
ORPHA:210122 |
Congenital Tracheal Stenosis |
|
Anomalous origin of left pulmonary artery from ascending aorta, Abnormal lung lobation, Respirato... |
ORPHA:141127 |
Coccidioidomycosis |
|
Cognitive impairment, Pleural empyema, Cerebral ischemia, Exudative pleural effusion, Respiratory... |
ORPHA:228123 |
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome |
|
Myopia, Cerebral visual impairment, Abnormality of visual evoked potentials |
ORPHA:480898 |
Mgat2-Cdg |
|
Reflex asystolic syncope, Abnormal bleeding, Respiratory distress, Abnormality of the endocrine s... |
ORPHA:79329 |
Sepsis In Premature Infants |
|
Hypotension, Petechiae, Nasal flaring, Abnormal respiratory system physiology, Purpura, Abnormal ... |
ORPHA:90051 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Pulmonary hypoplasia, Respiratory distress |
OMIM:231680 |
Cln5 Disease |
|
Abnormality of visual evoked potentials, Visual impairment |
ORPHA:228360 |
Kniest Dysplasia |
|
Tracheomalacia, Respiratory distress |
OMIM:156550 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Pulmonary arterial hypertension, Respiratory distress, Congestive heart failure, Hypertrophic car... |
ORPHA:505248 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Ischemic stroke, Spontaneous, recurrent epistaxis, Fingerpad telangiectases, Hematemesis, Reduced... |
OMIM:187300 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Recurrent respiratory infections, Unilateral breast hypoplasia, Respiratory distress, Abnormality... |
OMIM:300968 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Respiratory distress |
OMIM:606164 |
Colchicine Poisoning |
|
Hypotension, Hypovolemia, Cardiogenic shock, Respiratory distress, Congestive heart failure, Card... |
ORPHA:31824 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Persistent fetal circulation, Respiratory distress, Tricuspid regurgitation |
OMIM:612863 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Hypertension, Respiratory distress, Cryptorchidism |
ORPHA:1555 |
Hereditary Hemorrhagic Telangiectasia |
|
Pulmonary arterial hypertension, Pulmonary embolism, Mucosal telangiectasiae, Cerebral hemorrhage... |
ORPHA:774 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hypothyroidism, Hyperthyroidism, Recurrent respiratory infections, Interstitial pneumonitis, Thyr... |
ORPHA:37042 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Aggressive behavior, Self-injurious behavior, Asthma, Nasal flaring, Attention deficit hyperactiv... |
ORPHA:466943 |
Auriculocondylar Syndrome |
|
Snoring, Obstructive sleep apnea, Respiratory distress |
ORPHA:137888 |
Achondroplasia |
|
Pulmonary hypoplasia, Upper airway obstruction, Respiratory distress |
OMIM:100800 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory insufficiency, Repeated pneumothoraces, Respiratory distress, Pulmonary hypoplasia, B... |
ORPHA:536467 |
Sotos Syndrome |
|
Hypothyroidism, Aggressive behavior, Pulmonary bleb, Anxiety, Hydrocele testis, Small cell lung c... |
ORPHA:821 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Respiratory distress |
ORPHA:990 |
Apparent Mineralocorticoid Excess |
|
Decreased circulating renin level, Decreased circulating aldosterone level, Abnormality of circul... |
ORPHA:320 |
Rodrigues Blindness |
|
Nasal flaring |
OMIM:268320 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress, Apnea, Hypopnea, Neonatal respiratory distress, Recurrent lower respiratory... |
OMIM:618426 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Transient ischemic attack, Myocardial infarction, Respiratory distress |
OMIM:274150 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Aggressive behavior, Respiratory distress, Apnea, Hypertrophic cardiomyopathy, Recurrent respirat... |
ORPHA:17 |
Infantile Neuroaxonal Dystrophy |
|
Blindness, Abnormality of visual evoked potentials |
ORPHA:35069 |
Congenital Disorder Of Deglycosylation 1 |
|
Impaired oropharyngeal swallow response, Central sleep apnea, Respiratory distress, Impaired oral... |
OMIM:615273 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Abnormality of visual evoked potentials, Visual impairment |
ORPHA:485421 |
Ramos-Arroyo Syndrome |
|
Self-mutilation, Respiratory distress |
ORPHA:1051 |
Hyperparathyroidism, Transient Neonatal |
|
Ovarian cyst, Hyperparathyroidism, Respiratory distress |
OMIM:618188 |
Listeriosis |
|
Myocarditis, Irritability, Respiratory distress, Congestive heart failure, Pericarditis, Respirat... |
ORPHA:533 |
Osteogenesis Imperfecta, Type X |
|
Recurrent pneumonia, Chronic lung disease, Respiratory distress |
OMIM:613848 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Dilated cardiomyopathy, Apnea, Hypertrophic cardiomyopathy, Dyspnea, Cardiac conduction abnormali... |
ORPHA:255210 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress |
OMIM:610536 |
Pachyonychia Congenita |
|
Respiratory distress |
ORPHA:2309 |
Spondyloepiphyseal Dysplasia Congenita |
|
Restrictive ventilatory defect, Respiratory distress |
OMIM:183900 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Pulmonary arterial hypertension, Exertional dyspnea, Cardiac total anomalous pulmonary venous con... |
ORPHA:99125 |
Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Aspiration |
OMIM:618733 |
White-Sutton Syndrome |
|
Mild myopia, Visual impairment, Myopia, Hypermetropia, Abnormality of visual evoked potentials |
OMIM:616364 |
Biotinidase Deficiency |
|
Apnea, Hyperventilation, Respiratory distress |
ORPHA:79241 |
Pfeiffer Syndrome Type 2 |
|
Tracheomalacia, Respiratory distress |
ORPHA:93259 |
Methylmalonic Aciduria, Cblb Type |
|
Respiratory distress |
OMIM:251110 |
Kasabach-Merritt Syndrome |
|
Petechiae, Purpura, Respiratory distress, Prolonged prothrombin time, Hypopnea |
ORPHA:2330 |
Pfeiffer Syndrome Type 3 |
|
Tracheomalacia, Respiratory distress |
ORPHA:93260 |
Methylmalonic Aciduria, Cbla Type |
|
Respiratory distress |
OMIM:251100 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Reduced visual acuity, Abnormality of visual evoked potentials |
ORPHA:309256 |
Tetraamelia Syndrome 1 |
|
Peripheral pulmonary vessel aplasia, Pulmonary hypoplasia, Adrenal gland agenesis |
OMIM:273395 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Reduced visual acuity, Abnormality of visual evoked potentials |
ORPHA:309263 |
Plague |
|
Hypotension, Abnormal bleeding, Respiratory distress, Arrhythmia, Depression, Anxiety, Hematemesi... |
ORPHA:707 |
Xq12-Q13.3 Duplication Syndrome |
|
Abnormality of visual evoked potentials |
ORPHA:314389 |
Micro Syndrome |
|
Cerebral visual impairment, Abnormality of visual evoked potentials |
ORPHA:2510 |
Leptospirosis |
|
Hypotension, Retinal hemorrhage, Pulmonary hemorrhage, Respiratory distress, Pleural effusion, Pe... |
ORPHA:509 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Rhinitis, Respiratory distress, Cough, Depression, Anxiety, Respiratory failure requiring assiste... |
ORPHA:95455 |
Ruvalcaba Syndrome |
|
Abnormality of visual evoked potentials |
ORPHA:3121 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Hypertension, Respiratory distress |
OMIM:123790 |
Rubinstein-Taybi Syndrome 1 |
|
Respiratory tract infection, Premature thelarche, Hyperactivity, Bilateral cryptorchidism, Respir... |
OMIM:180849 |
Shwachman-Diamond Syndrome 1 |
|
Neonatal respiratory distress, Respiratory distress |
OMIM:260400 |
Hermansky-Pudlak Syndrome |
|
Amblyopia, Visual impairment, Myopia, Photophobia, Abnormality of visual evoked potentials |
ORPHA:79430 |
Ear-Patella-Short Stature Syndrome |
|
Breast aplasia, Respiratory distress, Dyspnea, Cryptorchidism, Respiratory failure |
ORPHA:2554 |
Arboleda-Tham Syndrome |
|
Recurrent aspiration pneumonia, Bilateral cryptorchidism, Respiratory distress, Dysphagia, Neonat... |
OMIM:616268 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Pneumothorax, Respiratory distress, Dilated cardiomyopathy, Dyspnea, Stridor, Respiratory failure... |
ORPHA:79404 |
Diamond-Blackfan Anemia 10 |
|
Respiratory distress |
OMIM:613309 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Rhinitis, Absent nipple, Respiratory distress, Aplasia/Hypoplastia of the eccrine sweat glands, H... |
OMIM:305100 |
8Q24.3 Microdeletion Syndrome |
|
Hyperactivity, Abnormal lung lobation, Respiratory distress, Ectopic posterior pituitary, Gastroi... |
ORPHA:508488 |
Stüve-Wiedemann Syndrome |
|
Hypothyroidism, Asthma, Respiratory distress, Apnea, Ectopic thyroid |
ORPHA:3206 |
Generalized Arterial Calcification Of Infancy |
|
Pulmonary arterial hypertension, Retinal hemorrhage, Pancreatic calcification, Transient ischemic... |
ORPHA:51608 |
Schinzel-Giedion Syndrome |
|
Central hypothyroidism, Pulmonary hypoplasia, Respiratory distress, Recurrent pneumonia, Annular ... |
ORPHA:798 |
Osteoglophonic Dysplasia |
|
Respiratory distress, Cryptorchidism |
OMIM:166250 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal testis morphology, Respiratory distress, Dilated cardiomyopathy, Hypertrophic cardiomyop... |
ORPHA:2556 |
Campomelic Dysplasia |
|
Tracheobronchomalacia, Respiratory distress, Apnea, Recurrent upper respiratory tract infections,... |
OMIM:114290 |
Doors Syndrome |
|
Congenital hypothyroidism, Aspiration pneumonia, Respiratory distress, Adrenal hyperplasia |
ORPHA:79500 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Pancreatic hypoplasia, Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the ga... |
ORPHA:2255 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Abnormal pulmonary interstitial morphology, Respiratory distress, Neonatal respiratory distress, ... |
OMIM:614748 |
Hydrolethalus Syndrome 1 |
|
Abnormal lung lobation, Adrenal gland dysgenesis |
OMIM:236680 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Pancreatic hypoplasia, Biliary hyperplasia, Pulmonary hypoplasia, Respiratory distress, Cryptorch... |
ORPHA:83617 |
Metachromatic Leukodystrophy, Adult Form |
|
Reduced visual acuity, Abnormality of visual evoked potentials |
ORPHA:309271 |
Isolated Arrhinia |
|
Respiratory distress |
ORPHA:1134 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Respiratory distress |
OMIM:256810 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Congestive heart failure, Respiratory distress |
OMIM:617156 |
Alström Syndrome |
|
Chronic bronchitis, Recurrent sinusitis, Decreased circulating T4 concentration, Abnormal coronar... |
ORPHA:64 |
Heterotaxy, Visceral, 1, X-Linked |
|
Bilateral trilobed lung, Mitral stenosis, Respiratory distress, Total anomalous pulmonary venous ... |
OMIM:306955 |
Ulbright-Hodes Syndrome |
|
Pneumothorax, Maternal diabetes, Pulmonary hypoplasia, Respiratory distress, Cryptorchidism, Resp... |
ORPHA:3404 |
Cleidocranial Dysplasia 1 |
|
Neonatal respiratory distress, Respiratory distress |
OMIM:119600 |
Metachromatic Leukodystrophy |
|
Abnormality of visual evoked potentials, Visual impairment |
ORPHA:512 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Abnormality of visual evoked potentials |
OMIM:231550 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Cyst of the ductus choledochus, Respiratory distress, Recurrent upper and lower respiratory tract... |
ORPHA:480880 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Visual loss, Cerebral visual impairment, Abnormality of visual evoked potentials |
OMIM:203700 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Abnormality of visual evoked potentials |
ORPHA:258 |
Multiple Osteochondromas |
|
Pneumothorax, Hemothorax, Dysphagia |
ORPHA:321 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Respiratory distress |
OMIM:617088 |
Cockayne Syndrome B |
|
Hypermetropia, Abnormality of visual evoked potentials |
OMIM:133540 |
Cockayne Syndrome A |
|
Hypermetropia, Abnormality of visual evoked potentials |
OMIM:216400 |
Cerebrotendinous Xanthomatosis |
|
Abnormality of visual evoked potentials, Visual impairment |
ORPHA:909 |
Autosomal Recessive Malignant Osteopetrosis |
|
Abnormality of visual evoked potentials, Visual impairment |
ORPHA:667 |
Pmm2-Cdg |
|
Hyperinsulinemia, Increased circulating prolactin concentration, Elevated circulating thyroid-sti... |
ORPHA:79318 |
African Trypanosomiasis |
|
Abnormality of circulating cortisol level, Abnormality of renin-angiotensin system, Abnormal prol... |
ORPHA:3385 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Recurrent pneumonia, Respiratory distress |
ORPHA:99646 |