{"Name":"Congenital pulmonary sequestration","DiseaseID__c":"GARD:0004593","id":4593,"encodedName":"congenital-pulmonary-sequestration","IsDeleted":false,"Disease_Name_Full__c":"Congenital pulmonary sequestration","Xref_IDs__c":"18620009; C4020703; C97124; D001998; MEDGEN:892881; MONDO:0017843; ORPHA:3161","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"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":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0017843","Disease_Description__c":"A rare congenital abnormality of the lungs. It consists of a mass of lung parenchyma that does not communicate with the bronchial tree and receives its blood supply from the systemic circulation instead of the pulmonary circulation.","GARD_Name__c":"Congenital pulmonary sequestration","GARD_Synonym__c":"bronchopulmonary sequestration; congenital bronchopulmonary sequestration; congenital sequestration of lung; pulmonary sequestration; sequestered lobe (pulmonary sequestration)","Curated_Disease_Description_Source__c":"GARD:0004593","Curated_Disease_Description__c":"Congenital pulmonary sequestration is a rare congenital (present from birth) malformation where non-functioning lung tissue is separated from the rest of the lung and supplied with blood from an unusual source, often an artery from systemic circulation. Congenital pulmonary sequestration may be defined as intralobular or extralobular, depending on their location. Symptoms may include a chronic or recurrent cough, respiratory distress or lung infection.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:3161","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0017843","ORPHANET_ID__c":"ORPHA:3161","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Secuestro pulmonar congénito","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"secuestro pulmonar congénito","Spanish_GARD_Synonym__c":"secuestro broncopulmonar congénito","Category_Linearization__c":"ORPHA:93890","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":"Congenital pulmonary sequestration is a rare congenital (present from birth) malformation where non-functioning lung tissue is separated from the rest of the lung and supplied with blood from an unusual source, often an artery from systemic circulation. Congenital pulmonary sequestration may be defined as intralobular or extralobular, depending on their location. Symptoms may include a chronic or recurrent cough, respiratory distress or lung infection.","Curated_Disease_Description_Source__c":"GARD:0004593","GARD_Synonym__c":"bronchopulmonary sequestration; congenital bronchopulmonary sequestration; congenital sequestration of lung; pulmonary sequestration; sequestered lobe (pulmonary sequestration)","Name":"Congenital pulmonary sequestration","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Fetal Health Foundation","Website__c":"https://www.fetalhealthfoundation.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":"Neonatal","Provided_By__c":"ORPHA:3161"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C001998","Source__c":"MONDO:0017843","Xref__c":"D001998"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=892881","Source__c":"C4020703","Xref__c":"MEDGEN:892881"},{"URL__c":"https://www.orpha.net/en/disease/detail/3161","Source__c":"C4020703; MONDO:0017843","Xref__c":"ORPHA:3161"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C97124","Source__c":"MONDO:0017843","Xref__c":"C97124"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=18620009","Source__c":"MONDO:0017843","Xref__c":"18620009"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4020703","Source__c":"C4020703","Xref__c":"C4020703"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017843","Source__c":"GARD:0004593","Xref__c":"MONDO:0017843"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Pulmonology","Congenital Abnormality"],"Specialist":["Genetics","Pulmonology","Pediatrics"]},"synonyms":["bronchopulmonary sequestration"," congenital bronchopulmonary sequestration"," congenital sequestration of lung"," pulmonary sequestration"," sequestered lobe (pulmonary sequestration)"]}