{"Name":"Bronchiolitis obliterans with obstructive pulmonary disease","DiseaseID__c":"GARD:0005961","id":5961,"encodedName":"bronchiolitis-obliterans-with-obstructive-pulmonary-disease","IsDeleted":false,"Disease_Name_Full__c":"Bronchiolitis obliterans with obstructive pulmonary disease","Xref_IDs__c":"40100001; C0006272; C62580; DOID:2799; MEDGEN:665; MONDO:0015265; ORPHA:1303","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0015265","Disease_Description__c":"A rare lung disorder that is mainly associated with chronic allograft dysfunction after lung transplantation and that is characterized by inflammation and fibrosis of bronchiolar walls that reduce the diameter of the bronchioles and result in progressive and irreversible airflow obstruction.","GARD_Name__c":"Bronchiolitis obliterans with obstructive pulmonary disease","GARD_Synonym__c":"boop; bronchiolitis fibrosa obliterans; bronchiolitis obliterans; bronchiolitis obliterans syndrome; constrictive bronchiolitis; ob - obliterative bronchiolitis; obliterative bronchiolitis; organised pneumonia; organized pneumonia","Curated_Disease_Description_Source__c":"GARD:0005961","Curated_Disease_Description__c":"Bronchiolitis obliterans with obstructive pulmonary disease, also known as Bronchiolitis obliterans organizing pneumonia (BOOP), is a lung disease that causes inflammation in the small air tubes (bronchioles) and air sacs (alveoli). The signs and symptoms of BOOP vary but often include shortness of breath, a dry cough, and fever. BOOP can be caused by viral infections, various drugs, and other medical conditions. If the cause is known, the condition is called secondary BOOP. In many cases, the underlying cause of BOOP is unknown. These cases are called idiopathic BOOP or cryptogenic organizing pneumonia.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:1303","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0015265","ORPHANET_ID__c":"ORPHA:1303","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Bronquiolitis obliterante","Spanish_Description_Source__c":"ORPHA:1303","Spanish_Description__c":"Es una enfermedad pulmonar poco frecuente mayormente asociada a disfunción crónica del aloinjerto después de un trasplante de pulmón y que está caracterizada por inflamación y fibrosis de las paredes bronquiolares con reducción del diámetro de los bronquiolos, resultando en obstrucción progresiva e irreversible del flujo aéreo.","Spanish_Disease_Name__c":"bronquiolitis obliterante","Spanish_GARD_Synonym__c":"bronquiolitis constrictiva","Category_Linearization__c":"ORPHA:97955","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Bronchiolitis obliterans with obstructive pulmonary disease, also known as Bronchiolitis obliterans organizing pneumonia (BOOP), is a lung disease that causes inflammation in the small air tubes (bronchioles) and air sacs (alveoli). The signs and symptoms of BOOP vary but often include shortness of breath, a dry cough, and fever. BOOP can be caused by viral infections, various drugs, and other medical conditions. If the cause is known, the condition is called secondary BOOP. In many cases, the underlying cause of BOOP is unknown. These cases are called idiopathic BOOP or cryptogenic organizing pneumonia.","Curated_Disease_Description_Source__c":"GARD:0005961","GARD_Synonym__c":"boop; bronchiolitis fibrosa obliterans; bronchiolitis obliterans; bronchiolitis obliterans syndrome; constrictive bronchiolitis; ob - obliterative bronchiolitis; obliterative bronchiolitis; organised pneumonia; organized pneumonia","Name":"Bronchiolitis obliterans with obstructive pulmonary disease","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Children's Interstitial Lung Disease Foundation","Website__c":"https://child-foundation.org/"},{"Account_Name__c":"American Lung Association","Website__c":"https://www.lung.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Pulmonology","Tag_Category__c":"Disease Category;Specialist","category_description":"Respiratory diseases affect the nose, mouth, throat, voice box, windpipe, lungs, or blood vessels.","curated_tag_name":"Respiratory diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:1303"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=40100001","Source__c":"C0006272; MONDO:0015265","Xref__c":"40100001"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0006272","Source__c":"C0006272","Xref__c":"C0006272"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A2799","Source__c":"MONDO:0015265","Xref__c":"DOID:2799"},{"URL__c":"https://www.orpha.net/en/disease/detail/1303","Source__c":"C0006272; MONDO:0015265; ORPHA:1303","Xref__c":"ORPHA:1303"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=665","Source__c":"C0006272","Xref__c":"MEDGEN:665"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C001989","Source__c":"C0006272","Xref__c":"D001989"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0011946","Source__c":"C0006272","Xref__c":"HP:0011946"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C62580","Source__c":"C0006272","Xref__c":"C62580"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015265","Source__c":"GARD:0005961","Xref__c":"MONDO:0015265"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1303","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Inflammation and fibrosis of the bronchioles leading to partial or complete obstruction of these airways.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011946","HPO_Synonym__c":"Constrictive bronchiolitis; Obliterative bronchiolitis","HPO_Name__c":"Bronchiolitis obliterans","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1303","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal reduction in the amount of air a person can forcefully expel in one second.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032342","HPO_Synonym__c":"Reduced FEV1","HPO_Name__c":"Reduced forced expiratory volume in one second","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Procedure_PFT"}},{"Provided_By__c":"ORPHA:1303","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002110","HPO_Synonym__c":"Permanent enlargement of the airways of the lungs","HPO_Name__c":"Bronchiectasis","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1303","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally low level of blood oxygen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012418","HPO_Synonym__c":"Low blood oxygen level","HPO_Name__c":"Hypoxemia","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1303","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012735","HPO_Synonym__c":"Cough; Coughing","HPO_Name__c":"Cough","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1303","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002094","HPO_Synonym__c":"Abnormal breathing; Breathing difficulty; Difficult to breathe; Difficulty breathing; Shortness of breath; Trouble breathing","HPO_Name__c":"Dyspnea","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1303","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The occurrence of an immune reaction against the organism's own cells or tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002960","HPO_Synonym__c":"Autoimmune condition; Autoimmune disease; Autoimmune disorder; Autoimmunity","HPO_Name__c":"Autoimmunity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1303","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An infection of the upper or lower respiratory tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011947","HPO_Synonym__c":"Respiratory infection; Respiratory tract infection","HPO_Name__c":"Respiratory tract infection","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1303","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormally low FEV1/FVC (FEV1 - forced expiratory volume in 1 second; FVC forced vital capacity).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030877","HPO_Synonym__c":"Obstructive deficit on pulmonary function test; Obstructive deficit on pulmonary function testing","HPO_Name__c":"Reduced FEV1/FVC ratio","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Procedure_PFT"}},{"Provided_By__c":"ORPHA:1303","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Inflammation of any part of the lung parenchyma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002090","HPO_Synonym__c":"Pneumonia","HPO_Name__c":"Pneumonia","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1303","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction compared to the predicted value of the forced expiratory flow over the middle one-half of the FVC; the average flow from the point at which 25% of the FVC has been exhaled to the point at which 75% of the FVC has been exhaled.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032359","HPO_Synonym__c":"Decreased FEF25-75%","HPO_Name__c":"Decreased forced expiratory flow 25-75%","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Procedure_PFT"}},{"Provided_By__c":"ORPHA:1303","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A cough that does not produce phlegm or mucus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031246","HPO_Synonym__c":"Dry cough; Dry coughing","HPO_Name__c":"Nonproductive cough","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1303","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced ability of the lungs to transfer gas from inspired air to the bloodstream as measured by the diffusing capacity of the lungs for carbon monoxide (DLCO) test.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0045051","HPO_Synonym__c":"Decreased diffusing capacity","HPO_Name__c":"Decreased DLCO","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Procedure_PFT"}},{"Provided_By__c":"ORPHA:1303","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"On chest radiographs, ground-glass opacity appears as an area of hazy increased lung opacity, usually extensive, within which margins of pulmonary vessels may be indistinct. On CT scans, it appears as hazy increased opacity of lung, with preservation of bronchial and vascular margins. It is caused by partial filling of airspaces, interstitial thickening (due to fluid, cells, and/or fibrosis), partial collapse of alveoli, increased capillary blood volume, or a combination of these, the common factor being the partial displacement of air. Ground-glass opacity is less opaque than consolidation, in which bronchovascular margins are obscured.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025179","HPO_Synonym__c":"GGO; Ground glass opacities","HPO_Name__c":"Ground-glass opacification","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Imaging_CT"}},{"Provided_By__c":"ORPHA:1303","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal reduction in the amount of air a person can expel following maximal inspiration.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032341","HPO_Synonym__c":"Decreased forced vital capacity; Reduced FVC","HPO_Name__c":"Reduced forced vital capacity","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Procedure_PFT"}},{"Provided_By__c":"ORPHA:1303","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Obstruction of conducting airways of the lung.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006536","HPO_Synonym__c":"Obstructive lung disease; Pulmonary obstruction","HPO_Name__c":"Airway obstruction","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Disease Category":["Pulmonology"],"Specialist":["Pulmonology","Pediatrics"]},"synonyms":["boop"," bronchiolitis fibrosa obliterans"," bronchiolitis obliterans"," bronchiolitis obliterans syndrome"," constrictive bronchiolitis"," ob - obliterative bronchiolitis"," obliterative bronchiolitis"," organised pneumonia"," organized pneumonia"]}