{"Name":"Pulmonary agenesis","DiseaseID__c":"GARD:0009119","id":9119,"encodedName":"pulmonary-agenesis","IsDeleted":false,"Disease_Name_Full__c":"Pulmonary agenesis","Xref_IDs__c":"66489009; C0265780; C562992; C99028; MEDGEN:82722; MONDO:0020110; ORPHA:984; Q33.3","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":2,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0020110","Disease_Description__c":"An uncommon congenital abnormality characterized by either lethal complete absence of the lungs or varying degrees of underdevelopment of the lung parenchyma. It may be associated with other congenital abnormalities.","GARD_Name__c":"Pulmonary agenesis","GARD_Synonym__c":"agenesis of lung; aplasia of lung; apulmonism; congenital absence of lung; congenital aplasia of lung","Curated_Disease_Description_Source__c":"MONDO:0020110","Curated_Disease_Description__c":"An uncommon congenital abnormality characterized by either lethal complete absence of the lungs or varying degrees of underdevelopment of the lung parenchyma. It may be associated with other congenital abnormalities.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:984","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0020110","ORPHANET_ID__c":"ORPHA:984","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Agenesia pulmonar","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"agenesia pulmonar","Spanish_GARD_Synonym__c":null,"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":"An uncommon congenital abnormality characterized by either lethal complete absence of the lungs or varying degrees of underdevelopment of the lung parenchyma. It may be associated with other congenital abnormalities.","Curated_Disease_Description_Source__c":"MONDO:0020110","GARD_Synonym__c":"agenesis of lung; aplasia of lung; apulmonism; congenital absence of lung; congenital aplasia of lung","Name":"Pulmonary agenesis","estimateUsa":""}],"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"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=66489009","Source__c":"C0265780; MONDO:0020110","Xref__c":"66489009"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0265780","Source__c":"C0265780","Xref__c":"C0265780"},{"URL__c":"https://www.orpha.net/en/disease/detail/984","Source__c":"C0265780; MONDO:0020110; ORPHA:984","Xref__c":"ORPHA:984"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C99028","Source__c":"C0265780; MONDO:0020110","Xref__c":"C99028"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C562992","Source__c":"MONDO:0020110","Xref__c":"C562992"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=82722","Source__c":"C0265780","Xref__c":"MEDGEN:82722"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=156936000","Source__c":"C0265780","Xref__c":"156936000"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0020110","Source__c":"GARD:0009119","Xref__c":"MONDO:0020110"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=702612001","Source__c":"C0265780","Xref__c":"702612001"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/Q33.3","Source__c":"MONDO:0020110","Xref__c":"Q33.3"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Pulmonology","Congenital Abnormality"],"Specialist":["Genetics","Pulmonology"]},"synonyms":["agenesis of lung"," aplasia of lung"," apulmonism"," congenital absence of lung"," congenital aplasia of lung"]}