Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Decreased response to growth hormone stimulation test, Crackles, Elevated c... |
OMIM:610978 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Atelecta... |
ORPHA:70589 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
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Pneumonia, Ground-glass opacification, Respiratory tract infection, Dyspnea, Nonproductive cough,... |
ORPHA:1303 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
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Ground-glass opacification, Respiratory tract infection, Hypersensitivity pneumonitis, Nonproduct... |
ORPHA:79127 |
Asbestos Intoxication |
|
Reduced forced vital capacity, Nonproductive cough, Diffuse reticular or finely nodular infiltrat... |
ORPHA:2302 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
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Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
Mucus Inspissation Of Respiratory Tract |
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Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... |
OMIM:253240 |
Ciliary Dyskinesia, Primary, 21 |
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Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... |
OMIM:615294 |
Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... |
OMIM:615872 |
Meconium Aspiration Syndrome |
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Respiratory distress, Abnormal pulmonary thoracic imaging finding, Maternal diabetes, Atelectasis... |
ORPHA:70588 |
Adult Acute Respiratory Distress Syndrome |
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Pneumonia, Dyspnea, Pulmonary infiltrates, Hypoxemia, Diabetic ketoacidosis, Respiratory failure,... |
ORPHA:70578 |
Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re... |
OMIM:616726 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
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Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... |
OMIM:619466 |
Acute Interstitial Pneumonia |
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Cyanosis, Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Ground-... |
ORPHA:79126 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
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Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... |
OMIM:610913 |
Severe Acute Respiratory Syndrome |
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Respiratory distress, Respiratory failure requiring assisted ventilation, Diabetes mellitus, Dysp... |
ORPHA:140896 |
Staphylococcal Necrotizing Pneumonia |
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Respiratory distress, Diabetes mellitus, Pneumonia, Cough, Nonproductive cough, Dyspnea, Pneumoth... |
ORPHA:36238 |
Respiratory Distress Syndrome In Premature Infants |
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Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e... |
OMIM:267450 |
Sarcoidosis, Susceptibility To, 2 |
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Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphology, Pulmonary infi... |
OMIM:612387 |
Idiopathic Chronic Eosinophilic Pneumonia |
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Abnormal pulmonary thoracic imaging finding, Crackles, Atelectasis, Hypersensitivity pneumonitis,... |
ORPHA:2902 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
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Atelectasis, Chronic sinusitis, Recurrent bronchitis |
OMIM:300455 |
Recurrent Respiratory Papillomatosis |
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Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in... |
ORPHA:60032 |
Familial Nasal Acilia |
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Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... |
ORPHA:922 |
Pulmonary Alveolar Proteinosis, Acquired |
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Recurrent respiratory infections, Lung abscess, Cyanosis, Pneumonia, Dyspnea, Intraalveolar phosp... |
OMIM:610910 |
Infant Acute Respiratory Distress Syndrome |
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Cyanosis, Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemi... |
ORPHA:70587 |
Pneumocystosis |
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Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Nonproductive cough... |
ORPHA:723 |
Cryptogenic Organizing Pneumonia |
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Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Ground-glass opacification, Non... |
ORPHA:1302 |
Hereditary Pulmonary Alveolar Proteinosis |
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Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, C... |
ORPHA:264675 |
Pituicytoma |
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Hypopituitarism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation ... |
ORPHA:251623 |
High Altitude Pulmonary Edema |
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Orthopnea, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough, Pulmonary opacity, Pulmonary... |
ORPHA:330012 |
Panbronchiolitis, Diffuse |
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Crackles, Rhonchi, Wheezing, Bronchiectasis, Hypoxemia, Cough |
OMIM:604809 |
Tracheobronchopathia Osteochondroplastica |
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Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... |
ORPHA:3348 |
Diffuse Alveolar Hemorrhage |
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Respiratory failure requiring assisted ventilation, Ground-glass opacification, Dyspnea, Increase... |
ORPHA:90060 |
Chronic Pneumonitis Of Infancy |
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Respiratory distress, Cyanosis, Intercostal retractions, Ground-glass opacification, Reduced forc... |
ORPHA:91359 |
Acute Lung Injury |
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Respiratory distress, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal pulmon... |
ORPHA:178320 |
Lymphoid Interstitial Pneumonia |
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Multiple pulmonary cysts, Crackles, Ground-glass opacification, Respiratory tract infection, Coug... |
ORPHA:79128 |
Pulmonary Capillary Hemangiomatosis |
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Pulmonary edema, Cyanosis, Diffuse alveolar hemorrhage, Ground-glass opacification, Pulmonary cap... |
ORPHA:199241 |
Placental Insufficiency |
|
Hypoxemia, Abnormal lung morphology, Miscarriage |
ORPHA:439167 |
Primary Pulmonary Hypoplasia |
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Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Apnea, Asthma, Pneumot... |
ORPHA:2257 |
Isolated Growth Hormone Deficiency, Type Iv |
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Impaired growth-hormone response to insulin stimulation test, Decreased serum insulin-like growth... |
OMIM:618157 |
Bronchogenic Cyst |
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Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneumonia, Abnormal pleura morpholog... |
ORPHA:2357 |
Avian Influenza |
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Respiratory distress, Miscarriage, Pneumonia, Ground-glass opacification, Productive cough, Nonpr... |
ORPHA:454836 |
Pulmonary Alveolar Microlithiasis |
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Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Respiratory tract in... |
ORPHA:60025 |
Pituitary Adenoma 1, Multiple Types |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... |
OMIM:102200 |
Autoimmune Pulmonary Alveolar Proteinosis |
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Cyanosis, Crazy paving pattern, Crackles, Dyspnea, Intraalveolar phospholipid accumulation, Hypox... |
ORPHA:747 |
Myotubular Myopathy With Abnormal Genital Development |
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Respiratory distress, Death in infancy, Unilateral cryptorchidism, Bilateral cryptorchidism, Atel... |
OMIM:300219 |
Congenital Diaphragmatic Hernia |
|
Respiratory distress, Pulmonary hypoplasia, Hypoxemia |
ORPHA:2140 |
Pituitary Carcinoma |
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Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro... |
ORPHA:300385 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Bronchiolitis, Atelectasis, Pulmonary fibrosis, Exertional dyspnea |
ORPHA:254361 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Neonatal respiratory distress, Nasal polyposis, Peribronchova... |
ORPHA:244 |
C1Q Deficiency 2 |
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Atelectasis, Recurrent lower respiratory tract infections, Bronchiectasis |
OMIM:620321 |
Slc35A1-Cdg |
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Respiratory distress, Hypoxemia, Pneumonia, Pulmonary hemorrhage |
ORPHA:238459 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
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Crackles, Ground-glass opacification, Atelectasis, Dyspnea, Asthma, Wheezing, Abnormal pulmonary ... |
OMIM:620233 |
Ciliary Dyskinesia, Primary, 1 |
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Nasal polyposis, Pneumonia, Atelectasis, Absent outer dynein arms, Bronchiectasis, Immotile cilia... |
OMIM:244400 |
Non-Acquired Panhypopituitarism |
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Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:90695 |
Ventilator-Induced Diaphragmatic Dysfunction |
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Hypercapnia, Respiratory insufficiency due to muscle weakness, Reduced forced vital capacity, Red... |
ORPHA:505395 |
Growth Hormone Deficiency, Isolated Partial |
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Small pituitary gland, Decreased response to growth hormone stimulation test |
OMIM:615925 |
Waardenburg Syndrome Type 3 |
|
Tracheomalacia, Atelectasis, Acrocyanosis |
ORPHA:896 |
Interstitial Lung And Liver Disease |
|
Dyspnea, Intraalveolar phospholipid accumulation, Abnormal pulmonary interstitial morphology, Res... |
OMIM:615486 |
Pituitary Hormone Deficiency, Combined Or Isolated, 8 |
|
Decreased thyroid-stimulating hormone level, Decreased serum insulin-like growth factor 1, Ectopi... |
OMIM:620303 |
Tempi Syndrome |
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Hypoxemia, Transudative pleural effusion, Abnormality of the pulmonary vasculature |
ORPHA:284227 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased circulating A... |
OMIM:613986 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
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Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:95494 |
X-Linked Acrogigantism |
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Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Elevated circulating growt... |
ORPHA:300373 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Cyanosis, Maternal diabetes, Tachypnea, Anomalous pulmonary venous return, Hypoxemia |
ORPHA:860 |
Ciliary Dyskinesia, Primary, 20 |
|
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... |
OMIM:615067 |
Pericardial And Diaphragmatic Defect |
|
Hypoxemia, Neonatal respiratory distress, Pulmonary hypoplasia, Pulmonary sequestration |
ORPHA:2847 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachypnea, Hypoxemia, Respiratory failure, Pleural effusion, Pulmonary edema |
ORPHA:542323 |
Pulmonary Arteriovenous Malformation |
|
Cyanosis, Epistaxis, Dyspnea, Hemothorax, Hypoxemia, Pleural empyema, Cough, Pulmonary arterial h... |
ORPHA:2038 |
Sarcoidosis, Susceptibility To, 1 |
|
Cough, Dyspnea, Emphysema, Enlarged lacrimal glands, Bronchiectasis, Abnormal pulmonary interstit... |
OMIM:181000 |
Acquired Methemoglobinemia |
|
Respiratory distress, Dyspnea, Cyanosis, Hypoxemia |
ORPHA:464453 |
Panhypophysitis |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... |
ORPHA:95513 |
Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
Adenohypophysitis |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... |
ORPHA:95512 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Death in infancy, Adrenal hypoplasia, Atelectasis, Recurrent pneumonia, Hypoplasia of the thymus,... |
OMIM:613177 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Respiratory failure requiring assisted ventilation, Decreased serum insulin-like growth factor 1,... |
ORPHA:77293 |
Bickerstaff Brainstem Encephalitis |
|
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... |
ORPHA:79138 |
Lymphangioleiomyomatosis |
|
Recurrent respiratory infections, Atelectasis, Dyspnea, Pneumothorax, Pulmonary infiltrates, Rest... |
ORPHA:538 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Atelectasis, Recurrent respiratory infections, Cough |
ORPHA:2314 |
Farber Disease |
|
Respiratory distress, Nodular pattern on pulmonary HRCT, Atelectasis, Recurrent upper respiratory... |
ORPHA:333 |
Absence Of The Pulmonary Artery |
|
Recurrent respiratory infections, Abnormal pulmonary thoracic imaging finding, Cyanosis, Orthopne... |
ORPHA:980 |
Multiple Endocrine Neoplasia, Type I |
|
Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Pituitary adeno... |
OMIM:131100 |
Gangliocytoma |
|
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar... |
ORPHA:251937 |
Whim Syndrome |
|
Sinusitis, Pneumonia, Respiratory tract infection, Atelectasis, Recurrent upper respiratory tract... |
ORPHA:51636 |
Sickle Cell Anemia |
|
Hypoxemia, Pigment gallstones |
ORPHA:232 |
Congenital Tricuspid Valve Dysplasia |
|
Respiratory failure requiring assisted ventilation, Cyanosis, Tachypnea, Anomalous pulmonary veno... |
ORPHA:555874 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Atelectasis, Respiratory insufficiency, Pulmonary arterial hypertension, Respira... |
ORPHA:258 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Diabetes mellitus, Aplasia/Hypoplasia of the pancreas, Hypoxemia, Hyperechogenic pancreas, Hypoth... |
ORPHA:456312 |
Short-Rib Thoracic Dysplasia 12 |
|
Atelectasis, Respiratory insufficiency, Hypoplastic nipples, Pulmonary hypoplasia, Neonatal death |
OMIM:269860 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Precocious puberty in female... |
ORPHA:90794 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Recurrent respiratory infections, Atelectasis, Tachypnea, Respiratory insufficiency, Respiratory ... |
OMIM:618278 |
Zygomycosis |
|
Diabetes mellitus, Sinusitis, Epistaxis, Atelectasis, Pneumothorax, Pulmonary infiltrates, Acute ... |
ORPHA:73263 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Posterior pituitary hypoplasia, Pulmonary artery stenosis, Abnormality of the anterior pituitary |
ORPHA:75389 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hypoxemia, Recurrent lower respiratory tract infections |
OMIM:308230 |
Giant Axonal Neuropathy |
|
Abnormal pituitary gland morphology |
ORPHA:643 |
Central Hypoventilation Syndrome, Congenital, 1 |
|
Hypoventilation, Apnea, Central hypoventilation, Hypercapnia, Hypoxemia, Nocturnal hypoventilation |
OMIM:209880 |
Lujo Hemorrhagic Fever |
|
Respiratory distress, Crackles, Atelectasis, Nonproductive cough, Rhinitis |
ORPHA:319213 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased circulating cortisol level, Decreased serum insulin-like growth factor 1, Decreased res... |
ORPHA:293978 |
Isolated Right Ventricular Hypoplasia |
|
Hypoxemia, Dyspnea, Cyanosis |
ORPHA:439 |
Achondroplasia |
|
Hypoxemia, Restrictive ventilatory defect |
ORPHA:15 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Repeated pneumothoraces, Atelectasis, Respiratory insufficiency, Restrictiv... |
ORPHA:536467 |
Prolactinoma |
|
Hypogonadotropic hypogonadism, Female hypogonadism, Elevated circulating growth hormone concentra... |
ORPHA:2965 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Hypoxemia, Recurrent respiratory infections, Pulmonary arterial hypertension, Cryptorchidism |
ORPHA:2282 |
Neonatal Marfan Syndrome |
|
Neonatal respiratory distress, Emphysema, Decreased testicular size, Hypoxemia |
ORPHA:284979 |
Congenital Fiber-Type Disproportion Myopathy |
|
Recurrent respiratory infections, Hypercapnia, Respiratory insufficiency due to muscle weakness, ... |
ORPHA:2020 |
Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Hypogonadism, Hyperpituitarism, Ant... |
ORPHA:91351 |
Granulomatous Disease, Chronic, X-Linked |
|
Atelectasis, Recurrent pneumonia, Air bronchogram, Cough, Pleural effusion |
OMIM:306400 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Orthopnea, Respiratory tract infection, Atelectasis, Respiratory insufficie... |
ORPHA:365 |
Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Apneic episodes in infancy, Apnea, Hypercapnia, Respiratory insufficiency |
OMIM:618222 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit... |
ORPHA:91350 |
Rh Deficiency Syndrome |
|
Hypoxemia, Tachypnea, Miscarriage |
ORPHA:71275 |
Oculocerebrorenal Syndrome Of Lowe |
|
Recurrent respiratory infections, Hyperparathyroidism, Death in infancy, Atelectasis, Cryptorchid... |
ORPHA:534 |
Malignant Hyperthermia, Susceptibility To, 5 |
|
Hypercapnia |
OMIM:601887 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Hypoxemia, Absent gallbladder, Neonatal insulin-dependent diabetes mellitus, Pancreatic aplasia |
ORPHA:556955 |
Congenital Myopathy 13 |
|
Hypoxemia, Cryptorchidism, Hypercapnia, Restrictive ventilatory defect |
OMIM:255995 |
Sheehan Syndrome |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... |
ORPHA:91355 |
Digeorge Syndrome |
|
Parathyroid agenesis, Decreased circulating parathyroid hormone level, Atelectasis, Asthma, Recur... |
OMIM:188400 |
Pituitary Stalk Interruption Syndrome |
|
Death in infancy, Ectopic posterior pituitary, Adrenal hypoplasia, Cryptorchidism, Hypothyroidism... |
ORPHA:95496 |
Sickle Cell Disease |
|
Hypoxemia, Cholelithiasis |
OMIM:603903 |
Joubert Syndrome 38 |
|
Decreased serum insulin-like growth factor 1, Small pituitary gland, Decreased response to growth... |
OMIM:619476 |
Cardiogenic Shock |
|
Hypoxemia, Dyspnea, Increased pulmonary capillary wedge pressure, Crackles |
ORPHA:97292 |
Igg4-Related Thyroid Disease |
|
Nodular goiter, Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland... |
ORPHA:64744 |
Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t... |
OMIM:164310 |
22Q11.2 Deletion Syndrome |
|
Hypoparathyroidism, Hyperthyroidism, Atelectasis, Cryptorchidism, Asthma, Abnormal lung lobation,... |
ORPHA:567 |
Relapsing Polychondritis |
|
Dyspnea, Atelectasis, Abnormal pattern of respiration, Cough |
ORPHA:728 |
Tsh-Secreting Pituitary Adenoma |
|
Enlarged pituitary gland, Hyperthyroidism, Hypogonadotropic hypogonadism, Female hypogonadism, El... |
ORPHA:91347 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Reduced vital capacity, Pulmonary embolism, Increased pulmonary vascular resistance, Reduced FEV1... |
ORPHA:70591 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Spontaneous, recurrent epistaxis, Cyanosis, Miscarriage, Pulmonary arteriovenous malformation, Dy... |
OMIM:187300 |
Malignant Hyperthermia Of Anesthesia |
|
Tachypnea, Hypercapnia |
ORPHA:423 |
Chand Syndrome |
|
Atelectasis |
ORPHA:1401 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... |
ORPHA:226307 |
Acute Liver Failure |
|
Abnormal respiratory system physiology, Adrenal insufficiency, Hypocapnia, Abnormal pattern of re... |
ORPHA:90062 |
Eisenmenger Syndrome |
|
Respiratory distress, Cyanosis, Increased pulmonary vascular resistance, Wheezing, Aortopulmonary... |
ORPHA:97214 |
Duplication Of The Pituitary Gland |
|
Abnormal hypothalamus morphology, Abnormal pituitary gland morphology |
ORPHA:314621 |
Exercise-Induced Malignant Hyperthermia |
|
Tachypnea, Crackles, Hypocapnia |
ORPHA:466650 |
Igg4-Related Ophthalmic Disease |
|
Sinusitis, Orchitis, Abnormal lung morphology, Abnormality of the anterior pituitary, Enlarged la... |
ORPHA:449563 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Hypothyroidism, Adrenal insufficiency, Impaired growth-hormone response to insulin stimulation test |
OMIM:262700 |