Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Elevated circulating thyroid-stimulating hormone concentration, Atelectasis, Cystic pattern on pu... |
OMIM:610978 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Emphysema, Ground-glass opacification, Respiratory tract infection, Chronic bronchitis, Diffuse r... |
ORPHA:79127 |
Bronchiolitis Obliterans |
|
Pneumonia, Bronchiectasis, Ground-glass opacification, Respiratory tract infection, Bronchiolitis... |
ORPHA:1303 |
Idiopathic Pulmonary Fibrosis |
|
Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Orthodeoxia, Ground-glass opac... |
ORPHA:2032 |
Asbestos Intoxication |
|
Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Ground-g... |
ORPHA:2302 |
Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Pulmonary infiltrates, Pulmonary edema, Abnormal blood gas level, Hypoxemia, Diabetic ... |
ORPHA:70578 |
Bronchopulmonary Dysplasia |
|
Atelectasis, Emphysema, Hyperoxemia, Abnormal lung morphology, Pulmonary sequestration |
ORPHA:70589 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv... |
OMIM:610921 |
Meconium Aspiration Syndrome |
|
Atelectasis, Aspiration pneumonia, Transient pulmonary infiltrates, Pneumothorax, Maternal diabet... |
ORPHA:70588 |
Acute Interstitial Pneumonia |
|
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Ground-gl... |
ORPHA:79126 |
Pituicytoma |
|
Decreased serum estradiol, Abnormal circulating adrenocorticotropin concentration, Increased circ... |
ORPHA:251623 |
Ciliary Dyskinesia, Primary, 33 |
|
Recurrent pneumonia, Atelectasis, Recurrent bronchitis, Recurrent lower respiratory tract infecti... |
OMIM:616726 |
Sarcoidosis, Susceptibility To, 2 |
|
Emphysema, Hypoxemia, Pleural effusion, Pulmonary infiltrates, Pneumothorax, Abnormal pulmonary i... |
OMIM:612387 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent bronchitis, Atelectasis |
OMIM:300455 |
Staphylococcal Necrotizing Pneumonia |
|
Pneumonia, Pleural effusion, Parenchymal consolidation, Pulmonary infiltrates, Increased circulat... |
ORPHA:36238 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Recurrent respiratory infections, Bronchiectasis, Atelectasis |
OMIM:619466 |
Ciliary Dyskinesia, Primary, 21 |
|
Recurrent pneumonia, Bronchiectasis, Atelectasis |
OMIM:615294 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
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Recurrent pneumonia, Intralobular septal thickening, Spontaneous pneumothorax, Intraalveolar phos... |
OMIM:610913 |
Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Atelectasis, Respiratory tract infection, Cyanosis, Pulmonary edema, Hypoxemia |
ORPHA:70587 |
Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Bronchiectasis, Atelectasis |
OMIM:615872 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Atelectasis, Pleural effusion, Parenchymal consolidation, Abnormal pulmonary thoracic imaging fin... |
ORPHA:2902 |
Severe Acute Respiratory Syndrome |
|
Hypoxemia, Diabetes mellitus, Acute infectious pneumonia |
ORPHA:140896 |
Placental Insufficiency |
|
Abnormal lung morphology, Hypoxemia, Miscarriage |
ORPHA:439167 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Pneumonia, Intraalveolar phospholipid accumulation, Cyanosis, Lung abscess, Recurrent respiratory... |
OMIM:610910 |
Isolated Growth Hormone Deficiency, Type Iv |
|
Decreased response to growth hormone stimulation test, Decreased serum insulin-like growth factor... |
OMIM:618157 |
Familial Nasal Acilia |
|
Abnormal respiratory motile cilium morphology, Recurrent upper respiratory tract infections, Bron... |
ORPHA:922 |
Pulmonary Capillary Hemangiomatosis |
|
Diffuse alveolar hemorrhage, Centrilobular ground-glass opacification on pulmonary HRCT, Interlob... |
ORPHA:199241 |
Pneumocystosis |
|
Combined cystic and ground-glass pattern on pulmonary HRCT, Interstitial pneumonitis, Pleural eff... |
ORPHA:723 |
Cryptogenic Organizing Pneumonia |
|
Ground-glass opacification, Parenchymal consolidation, Cyanosis, Pneumothorax, Hypoxemia |
ORPHA:1302 |
High Altitude Pulmonary Edema |
|
Pulmonary edema, Hypoxemia, Cyanosis, Pulmonary opacity |
ORPHA:330012 |
Pituitary Carcinoma |
|
Pituitary gonadotropic cell adenoma, Pituitary prolactin cell adenoma, Increased circulating prol... |
ORPHA:300385 |
Respiratory Distress Syndrome In Premature Infants |
|
Pulmonary edema, Atelectasis |
OMIM:267450 |
Myotubular Myopathy With Abnormal Genital Development |
|
Atelectasis, Bilateral cryptorchidism, Death in infancy, Neonatal death, Unilateral cryptorchidism |
OMIM:300219 |
Acute Lung Injury |
|
Pneumonia, Diffuse alveolar hemorrhage, Pulmonary infiltrates, Abnormal pulmonary interstitial mo... |
ORPHA:178320 |
C1Q Deficiency 2 |
|
Recurrent lower respiratory tract infections, Bronchiectasis, Atelectasis |
OMIM:620321 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Crazy paving pattern, Hypoxemia, Acute infectious pneumonia |
ORPHA:264675 |
Congenital Diaphragmatic Hernia |
|
Hypoxemia, Pulmonary hypoplasia |
ORPHA:2140 |
Bronchogenic Cyst |
|
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology, Abnormal p... |
ORPHA:2357 |
Diffuse Alveolar Hemorrhage |
|
Ground-glass opacification, Pulmonary infiltrates, Irregular septal thickening on pulmonary HRCT,... |
ORPHA:90060 |
Non-Acquired Panhypopituitarism |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypopituitarism, Decreased circula... |
ORPHA:90695 |
Lymphoid Interstitial Pneumonia |
|
Centrilobular ground-glass opacification on pulmonary HRCT, Subpleural interstitial thickening, G... |
ORPHA:79128 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Bronchiolitis, Atelectasis, Pulmonary fibrosis |
ORPHA:254361 |
Panbronchiolitis, Diffuse |
|
Hypoxemia, Bronchiectasis |
OMIM:604809 |
Slc35A1-Cdg |
|
Pneumonia, Pulmonary hemorrhage, Hypoxemia |
ORPHA:238459 |
Pulmonary Alveolar Microlithiasis |
|
Bronchitis, Interlobular septal thickening, Subpleural interstitial thickening, Oxygen desaturati... |
ORPHA:60025 |
Tracheobronchopathia Osteochondroplastica |
|
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Recurrent respiratory infections |
ORPHA:3348 |
Primary Pulmonary Hypoplasia |
|
Abnormal pulmonary artery morphology, Cyanosis, Pneumothorax, Recurrent respiratory infections, H... |
ORPHA:2257 |
Avian Influenza |
|
Pneumonia, Ground-glass opacification, Pleural effusion, Pulmonary infiltrates, Pneumothorax, Hyp... |
ORPHA:454836 |
Recurrent Respiratory Papillomatosis |
|
Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pneumonia, Atel... |
ORPHA:60032 |
Growth Hormone Deficiency, Isolated Partial |
|
Small pituitary gland, Decreased response to growth hormone stimulation test |
OMIM:615925 |
Waardenburg Syndrome Type 3 |
|
Acrocyanosis, Atelectasis |
ORPHA:896 |
Birt-Hogg-Dubé Syndrome |
|
Emphysema, Medullary thyroid carcinoma, Pneumothorax, Parathyroid adenoma, Pulmonary sequestration |
ORPHA:122 |
Chronic Pneumonitis Of Infancy |
|
Ground-glass opacification, Diffuse reticular or finely nodular infiltrations, Hypoxemia, Cyanosis |
ORPHA:91359 |
Pituitary Hormone Deficiency, Combined Or Isolated, 8 |
|
Ectopic posterior pituitary, Anterior pituitary agenesis, Absent pituitary stalk, Interrupted pit... |
OMIM:620303 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Crazy paving pattern, Hypoxemia, Intraalveolar phospholipid accumulation, Cyanosis |
ORPHA:747 |
Tempi Syndrome |
|
Abnormality of the pulmonary vasculature, Hypoxemia, Transudative pleural effusion |
ORPHA:284227 |
Primary Ciliary Dyskinesia |
|
Nasal polyposis, Atelectasis, Pulmonary situs ambiguus, Respiratory tract infection, Peribronchov... |
ORPHA:244 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Ectopic posterior pituitary, Anterior pituitary agenesis, Ectopic anterior pituitary gland, Hypop... |
ORPHA:95494 |
Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Nasal polyposis, Atelectasis, Recurrent bronchitis, Bronchiectasis, Absent outer dynei... |
OMIM:244400 |
Emphysema, Hereditary Pulmonary |
|
Emphysema, Chronic bronchitis |
OMIM:130700 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Ectopic posterior pituitary, Decreased circulating ACTH concentration, Posterior pituitary hypopl... |
OMIM:613986 |
Interstitial Lung And Liver Disease |
|
Intraalveolar phospholipid accumulation, Hypothyroidism, Abnormal pulmonary interstitial morpholo... |
OMIM:615486 |
X-Linked Acrogigantism |
|
Increased circulating insulin-like growth factor 1 concentration, Pituitary adenoma, Increased ci... |
ORPHA:300373 |
Panhypophysitis |
|
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... |
ORPHA:95513 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Cyanosis, Maternal diabetes, Hypoxemia, Anomalous pulmonary venous return |
ORPHA:860 |
Adenohypophysitis |
|
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... |
ORPHA:95512 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
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Abnormal pulmonary interstitial morphology, Atelectasis, Ground-glass opacification, Pleural effu... |
OMIM:620233 |
Pericardial And Diaphragmatic Defect |
|
Pulmonary sequestration, Hypoxemia, Pulmonary hypoplasia |
ORPHA:2847 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Peripheral pulmonary artery stenosis, Recurrent pneumonia, Atelectasis, Emphysema, Death in child... |
OMIM:613177 |
Non-Functioning Pituitary Adenoma |
|
Hypopituitarism, Central adrenal insufficiency, Female hypogonadism, Male hypogonadism, Decreased... |
ORPHA:91349 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Pulmonary edema, Pleural effusion, Hypoxemia |
ORPHA:542323 |
Sarcoidosis, Susceptibility To, 1 |
|
Enlarged lacrimal glands, Abnormal salivary gland morphology, Emphysema, Hypoxemia, Pleural effus... |
OMIM:181000 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Cholelithiasis, Interstitial pneumonitis, Decreased serum insulin-like growth factor 1, Delayed p... |
ORPHA:77293 |
Gangliocytoma |
|
Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Adrenocorticotropic hormone excess... |
ORPHA:251937 |
Ventilator-Induced Diaphragmatic Dysfunction |
|
Hypothyroidism, Hypercapnia |
ORPHA:505395 |
Whim Syndrome |
|
Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Atelectasis, Paroti... |
ORPHA:51636 |
Acquired Methemoglobinemia |
|
Hypoxemia, Cyanosis |
ORPHA:464453 |
Pulmonary Arteriovenous Malformation |
|
Pulmonary hemorrhage, Hemothorax, Cyanosis, Hypoxemia, Pleural empyema |
ORPHA:2038 |
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency |
|
Recurrent respiratory infections, Atelectasis |
ORPHA:2314 |
Farber Disease |
|
Diffuse reticular or finely nodular infiltrations, Recurrent upper respiratory tract infections, ... |
ORPHA:333 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Adrenocorticotropin deficient ... |
ORPHA:293978 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hyperechogenic pancreas, Hypothyroidism, Delayed puberty, Aplasia/Hypoplasia of the pancreas, Hyp... |
ORPHA:456312 |
Bickerstaff Brainstem Encephalitis |
|
Pneumonia, Respiratory tract infection, Hypercapnia, Abnormal thalamic MRI signal intensity |
ORPHA:79138 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Precocious puber... |
ORPHA:90794 |
Lymphangioleiomyomatosis |
|
Chylothorax, Atelectasis, Emphysema, Pulmonary lymphangiomyomatosis, Pulmonary infiltrates, Pneum... |
ORPHA:538 |
Short-Rib Thoracic Dysplasia 12 |
|
Neonatal death, Hypoplastic nipples, Atelectasis, Pulmonary hypoplasia |
OMIM:269860 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Pulmonary artery stenosis, Abnormality of the anterior pituitary, Posterior pituitary hypoplasia |
ORPHA:75389 |
Ciliary Dyskinesia, Primary, 20 |
|
Recurrent pneumonia, Atelectasis, Recurrent sinusitis, Pulmonary artery stenosis, Recurrent respi... |
OMIM:615067 |
Absence Of The Pulmonary Artery |
|
Recurrent pneumonia, Cyanosis, Pulmonary edema, Hypocapnia, Abnormal pulmonary thoracic imaging f... |
ORPHA:980 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Recurrent lower respiratory tract infections, Hypoxemia |
OMIM:308230 |
Giant Axonal Neuropathy |
|
Abnormal pituitary gland morphology |
ORPHA:643 |
Zygomycosis |
|
Atelectasis, Pleural effusion, Parenchymal consolidation, Pulmonary infiltrates, Pneumothorax, Ac... |
ORPHA:73263 |
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Dilated third ventricle, Atelectasis, Cryptorchidism, Pulmonary artery atresia, Pulmonary hypoplasia |
OMIM:620371 |
Congenital Tricuspid Valve Dysplasia |
|
Cyanosis, Hypoxemia, Anomalous pulmonary venous return |
ORPHA:555874 |
Neonatal Marfan Syndrome |
|
Emphysema, Decreased testicular size, Hypoxemia |
ORPHA:284979 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Recurrent respiratory infections, Hypoxemia, Cryptorchidism |
ORPHA:2282 |
Pituitary Dermoid And Epidermoid Cysts |
|
Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Hyperpituitarism... |
ORPHA:91351 |
Isolated Right Ventricular Hypoplasia |
|
Hypoxemia, Cyanosis |
ORPHA:439 |
Achondroplasia |
|
Hypoxemia |
ORPHA:15 |
Prolactinoma |
|
Secondary growth hormone deficiency, Male hypogonadism, Adrenocorticotropin deficient adrenal ins... |
ORPHA:2965 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Secondary growth hormone deficiency, Adrenocorticotropin deficient adrenal insufficiency, Increas... |
ORPHA:91350 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Recurrent respiratory infections, Pulmonary fibrosis, Death in childhood, Atelectasis |
OMIM:618278 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Ate... |
ORPHA:534 |
Malignant Hyperthermia, Susceptibility To, 5 |
|
Hypercapnia |
OMIM:601887 |
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia |
|
Ectopic anterior pituitary gland |
OMIM:620558 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Repeated pneumothoraces, Atelectasis, Pulmonary hypoplasia |
ORPHA:536467 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent pneumonia, Air bronchogram, Pleural effusion, Atelectasis |
OMIM:306400 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Recurrent lower respiratory tract infections, Atelectasis |
ORPHA:258 |
Lujo Hemorrhagic Fever |
|
Atelectasis |
ORPHA:319213 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Absent gallbladder, Hypoxemia, Pancreatic aplasia |
ORPHA:556955 |
Sheehan Syndrome |
|
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... |
ORPHA:91355 |
Pituitary Stalk Interruption Syndrome |
|
Ectopic posterior pituitary, Cryptorchidism, Death in infancy, Hypothyroidism, Delayed puberty, A... |
ORPHA:95496 |
Sickle Cell Disease |
|
Cholelithiasis, Hypoxemia |
OMIM:603903 |
Congenital Myopathy 13 |
|
Cryptorchidism, Hypoxemia, Hypercapnia |
OMIM:255995 |
Rh Deficiency Syndrome |
|
Hypoxemia, Miscarriage |
ORPHA:71275 |
Igg4-Related Thyroid Disease |
|
Graves disease, Euthyroid goiter, Goiter, Sialadenitis, Hashimoto thyroiditis, Hypothyroidism, Pa... |
ORPHA:64744 |
Joubert Syndrome 38 |
|
Ectopic posterior pituitary, Decreased serum insulin-like growth factor 1, Decreased response to ... |
OMIM:619476 |
Digeorge Syndrome |
|
Recurrent pneumonia, Cholelithiasis, Parathyroid hypoplasia, Atelectasis, Recurrent sinusitis, Ov... |
OMIM:188400 |
Congenital Fiber-Type Disproportion Myopathy |
|
Recurrent respiratory infections, Hypoxemia, Hypercapnia, Aspiration pneumonia |
ORPHA:2020 |
22Q11.2 Deletion Syndrome |
|
Cholelithiasis, Atelectasis, Abnormal lung lobation, Cryptorchidism, Hypoplasia of the thymus, Hy... |
ORPHA:567 |
Sickle Cell Anemia |
|
Cholelithiasis, Pigment gallstones, Hypoxemia |
ORPHA:232 |
Central Hypoventilation Syndrome, Congenital, 1 |
|
Hypoxemia, Hypercapnia |
OMIM:209880 |
Tsh-Secreting Pituitary Adenoma |
|
Secondary growth hormone deficiency, Female hypogonadism, Male hypogonadism, Adrenocorticotropin ... |
ORPHA:91347 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory tract infection, Atelectasis |
ORPHA:365 |
Chand Syndrome |
|
Atelectasis |
ORPHA:1401 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Decreased thyroid-stimulating hormone level, Decreased circulating T... |
ORPHA:226307 |
Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Hypercapnia |
OMIM:618222 |
Cardiogenic Shock |
|
Cyanosis, Hypoxemia |
ORPHA:97292 |
Malignant Hyperthermia Of Anesthesia |
|
Hypercapnia |
ORPHA:423 |
Relapsing Polychondritis |
|
Atelectasis |
ORPHA:728 |
Oculopharyngodistal Myopathy 1 |
|
Hypercapnia |
OMIM:164310 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Pulmonary hemorrhage, Nasal mucosa telangiectasia, Hemothorax, Cyanosis, Pulmonary arteriovenous ... |
OMIM:187300 |
Acute Liver Failure |
|
Hypocapnia, Adrenal insufficiency |
ORPHA:90062 |
Duplication Of The Pituitary Gland |
|
Abnormal hypothalamus morphology, Abnormal pituitary gland morphology |
ORPHA:314621 |
Eisenmenger Syndrome |
|
Aortopulmonary window, Hypoxemia, Cyanosis |
ORPHA:97214 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Hypocapnia |
ORPHA:70591 |
Exercise-Induced Malignant Hyperthermia |
|
Hypocapnia |
ORPHA:466650 |
Igg4-Related Ophthalmic Disease |
|
Neoplasm of the lung, Sialadenitis, Orchitis, Abnormality of the anterior pituitary, Abnormal lun... |
ORPHA:449563 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Impaired growth-hormone response to insulin stimulation test, Adrenal insufficiency, Hypothyroidism |
OMIM:262700 |