{"Name":"Bronchopulmonary dysplasia of newborn","DiseaseID__c":"GARD:0005962","id":5962,"encodedName":"bronchopulmonary-dysplasia-of-newborn","IsDeleted":false,"Disease_Name_Full__c":"Bronchopulmonary dysplasia of newborn","Xref_IDs__c":"67569000; C0495402; C90599; D001997; DOID:11650; MEDGEN:1864458; MONDO:0019091; ORPHA:70589","USA_Estimate__c":"200,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":2,"World_Estimate__c":"800,000 to 5,000,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":2,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0019091","Disease_Description__c":"Bronchopulmonary dysplasia is a chronic respiratory disease that results from complications related to lung injury during the treatment of infant acute respiratory distress syndrome (see these terms) in low-birth-weight premature infants or from abnormal lung development in older infants. Clinical signs are tachypnea, tachycardia and signs of respiratory distress such as intercostal recession, grunting and nasal flaring.","GARD_Name__c":"Bronchopulmonary dysplasia of newborn","GARD_Synonym__c":"bpd; bpd - bronchopulmonary dysplasia; bronchopulmonary dysplasia; chronic lung disease of prematurity; perinatal bronchopulmonary dysplasia; ventilator lung in newborn","Curated_Disease_Description_Source__c":"MONDO:0019091","Curated_Disease_Description__c":"Bronchopulmonary dysplasia is a chronic respiratory disease that results from complications related to lung injury during the treatment of infant acute respiratory distress syndrome (see these terms) in low-birth-weight premature infants or from abnormal lung development in older infants. Clinical signs are tachypnea, tachycardia and signs of respiratory distress such as intercostal recession, grunting and nasal flaring.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"200,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:70589","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019091","ORPHANET_ID__c":"ORPHA:70589","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Displasia broncopulmonar","Spanish_Description_Source__c":"ORPHA:70589","Spanish_Description__c":"La displasia broncopulmonar es una enfermedad respiratoria crónica que resulta de las complicaciones relacionadas con lesiones pulmonares durante el tratamiento del síndrome de distrés respiratorio en niños prematuros con bajo peso al nacer o del desarrollo anormal del pulmón en niños mayores. Los signos clínicos son taquipnea, taquicardia y signos de distrés respiratorio tales como recesión intercostal, gruñidos y aleteo nasal.","Spanish_Disease_Name__c":"displasia broncopulmonar","Spanish_GARD_Synonym__c":"dbp","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":"Bronchopulmonary dysplasia is a chronic respiratory disease that results from complications related to lung injury during the treatment of infant acute respiratory distress syndrome (see these terms) in low-birth-weight premature infants or from abnormal lung development in older infants. Clinical signs are tachypnea, tachycardia and signs of respiratory distress such as intercostal recession, grunting and nasal flaring.","Curated_Disease_Description_Source__c":"MONDO:0019091","GARD_Synonym__c":"bpd; bpd - bronchopulmonary dysplasia; bronchopulmonary dysplasia; chronic lung disease of prematurity; perinatal bronchopulmonary dysplasia; ventilator lung in newborn","Name":"Bronchopulmonary dysplasia of newborn","Curated_USA_Estimate__c":"200,000","estimateUsa":"200,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"American Lung Association","Website__c":"https://www.lung.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"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":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:70589"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:70589"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=67569000","Source__c":"C0495402; MONDO:0019091","Xref__c":"67569000"},{"URL__c":"https://www.orpha.net/en/disease/detail/70589","Source__c":"C0495402; MONDO:0019091","Xref__c":"ORPHA:70589"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C001997","Source__c":"MONDO:0019091","Xref__c":"D001997"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A11650","Source__c":"MONDO:0019091","Xref__c":"DOID:11650"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C90599","Source__c":"MONDO:0019091","Xref__c":"C90599"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0495402","Source__c":"C0495402","Xref__c":"C0495402"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1864458","Source__c":"C0495402","Xref__c":"MEDGEN:1864458"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019091","Source__c":"GARD:0005962","Xref__c":"MONDO:0019091"},{"URL__c":"https://www.nhlbi.nih.gov/health/bronchopulmonary-dysplasia"},{"URL__c":"https://www.fda.gov/media/168062/download?attachment"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:70589","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of a piece lung tissue which is not attached to the pulmonary blood supply and does not communicate with the other lung tissue (not connected to the standard bronchial airways and not performing a function in respiration).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100632","HPO_Synonym__c":"Bronchopulmonary sequestration","HPO_Name__c":"Pulmonary sequestration","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:70589","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal pattern in the quality, quantity, or characteristics of sleep.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002360","HPO_Synonym__c":"Difficulty sleeping; Sleep abnormality; Sleep disturbances; Sleep dysfunction; Sleep-wake disturbance; Trouble sleeping","HPO_Name__c":"Sleep disturbance","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:70589","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:70589","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002097","HPO_Synonym__c":"Pulmonary emphysema","HPO_Name__c":"Emphysema","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:70589","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The birth of a baby of less than 37 weeks of gestational age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001622","HPO_Synonym__c":"Premature birth; Premature delivery; Premature delivery of affected infants; Preterm birth; Preterm delivery; Shortened gestation time","HPO_Name__c":"Premature birth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:70589","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"In this case the right ventricle is more muscular than normal, causing a characteristic boot-shaped (coeur-en-sabot) appearance as seen on anterior- posterior chest x-rays. Right ventricular hypertrophy is commonly associated with any form of right ventricular outflow obstruction or pulmonary hypertension, which may in turn owe its origin to left-sided disease. The echocardiographic signs are thickening of the anterior right ventricular wall and the septum. Cavity size is usually normal, or slightly enlarged. In many cases there is associated volume overload present due to tricuspid regurgitation, in the absence of this, septal motion is normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001667","HPO_Synonym__c":"Heart right ventricle hypertrophy","HPO_Name__c":"Right ventricular hypertrophy","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:70589","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any anomaly measure by pulmonary function testing, which includes spirometry, measures of diffusing capacity, and plethysmography.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030878","HPO_Synonym__c":"Abnormal pulmonary function test","HPO_Name__c":"Abnormality on pulmonary function testing","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Procedure_PFT"}},{"Provided_By__c":"ORPHA:70589","HPO_Frequency__c":"Frequent (30-79%)","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"}},{"Provided_By__c":"ORPHA:70589","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of a paralyzed diaphragm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006597","HPO_Synonym__c":"Diaphragmatic paralysis; Paralyzed diaphragm","HPO_Name__c":"Diaphragmatic paralysis","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:70589","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001607","HPO_Name__c":"Subglottic stenosis","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:70589","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:70589","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally high level of blood oxygen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012419","HPO_Name__c":"Hyperoxemia","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:70589","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal function of the respiratory system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002795","HPO_Synonym__c":"Abnormal respiration; Functional respiratory abnormality","HPO_Name__c":"Abnormal respiratory system physiology","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:70589","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormally elevated blood pressure in the circulation of the pulmonary artery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004890","HPO_Synonym__c":"Elevated lung artery pressure; increased pulmonary artery pressure","HPO_Name__c":"Elevated pulmonary artery pressure","Feature_System__c":"Cardiovascular System; Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:70589","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Collapse of part of a lung associated with absence of inflation (air) of that part.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100750","HPO_Synonym__c":"Partial or complete collapse of part or entire lung; Pulmonary atelectasis","HPO_Name__c":"Atelectasis","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Imaging_CT"}},{"Provided_By__c":"ORPHA:70589","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"According to the definitions of the American and British Thoracic Societies, including pulmonary functional tests, X-rays, and CT scans for items such as fibrosis, bronchiectasis, bullae, emphysema, nodular or lymphomatous abnormalities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006528","HPO_Synonym__c":"Chronic lung disease","HPO_Name__c":"Chronic lung disease","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:70589","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A high-pitched whistling sound associated with labored breathing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030828","HPO_Synonym__c":"Wheezing","HPO_Name__c":"Wheezing","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:70589","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002098","HPO_Synonym__c":"Breathing difficulties; Labored breathing; Respiratory difficulties","HPO_Name__c":"Respiratory distress","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:70589","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A structural anomaly of the respiratory system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012252","HPO_Name__c":"Abnormal respiratory system morphology","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:70589","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A state of respiratory distress that requires a life saving intervention in the form of gaining airway access and instituting positive pressure ventilation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004887","HPO_Synonym__c":"Respiratory distress necessitating mechanical ventilation; Respiratory distress requiring endotracheal intubation; Respiratory distress requiring mechanical ventilation","HPO_Name__c":"Respiratory failure requiring assisted ventilation","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:70589","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Apnea resulting from depression of the respiratory centers in the medulla oblongata. There is a lack of respiratory effort rather than obstruction of airflow.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002871","HPO_Synonym__c":"Central apnoea","HPO_Name__c":"Central apnea","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:70589","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A functional motor deficit where individuals whose responses to the challenges of exercise fail to achieve levels considered normal for their age and sex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003546","HPO_Synonym__c":"Decreased ability to exercise; Inability to exercise; Low exercise endurance; Poor exercise tolerance","HPO_Name__c":"Exercise intolerance","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:70589","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Weakness or softness of the cartilage in the walls of the bronchial tubes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002780","HPO_Name__c":"Bronchomalacia","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:70589","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Weakness of the cartilage in the trachea and the bronchi, resulting in a floppy (non-rigid) airway. Affected persons may have difficulties to maintain patency of the airways.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002786","HPO_Name__c":"Tracheobronchomalacia","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:70589","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced ability of the right ventricle to perform its function (to receive blood from the right atrium and to eject blood into the pulmonary artery), often leading to pitting peripheral edema, ascites, and hepatomegaly.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001708","HPO_Synonym__c":"Impaired right ventricular function; Right ventricular impairment; Right-sided heart failure","HPO_Name__c":"Right ventricular failure","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:70589","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001518","HPO_Synonym__c":"Birth weight less than 10th percentile; Low birth weight; Small for gestational age","HPO_Name__c":"Small for gestational age","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:70589","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of the lung.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002088","HPO_Synonym__c":"Abnormality of lung structure; Abnormality of the lungs; Abnormally shaped lung; Unusual lung shape","HPO_Name__c":"Abnormal lung morphology","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Pulmonology","Congenital Abnormality"],"Specialist":["Genetics","Pulmonology","Pediatrics"]},"synonyms":["bpd"," bpd - bronchopulmonary dysplasia"," bronchopulmonary dysplasia"," chronic lung disease of prematurity"," perinatal bronchopulmonary dysplasia"," ventilator lung in newborn"]}