{"Name":"Aortic arch defects","DiseaseID__c":"GARD:0000741","id":741,"encodedName":"aortic-arch-defects","IsDeleted":false,"Disease_Name_Full__c":"Aortic arch defects","Xref_IDs__c":"C5680872; MEDGEN:1842770; MONDO:0015236; ORPHA:1132","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":5,"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":1,"Description_Source__c":"MONDO:0015236","Disease_Description__c":"Congenital abnormalities of the aortic arch result from aberrant development of one or more components of the embyronic pharangeal arch system. Any component of this system can regress or persist abnormally, resulting in an extensive array of aortic arch anomalies. Clinically, they are classified by those that cause (or are likely to cause) physiolgogical abnormalities and those that do not. Physiologic abnormalities include tracheobronchial compression, esophageeal compression, and abnormal blood flow patteren.","GARD_Name__c":"Aortic arch defects","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"MONDO:15236","Curated_Disease_Description__c":"Congenital abnormalities of the aortic arch result from aberrant development of one or more components of the embyronic pharangeal arch system. Any component of this system can regress or persist abnormally, resulting in an extensive array of aortic arch anomalies. Clinically, they are classified by those that cause (or are likely to cause) physiological abnormalities and those that do not. Physiologic abnormalities include tracheobronchial compression, esophageal compression, and abnormal blood flow patterns.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:1132","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0015236","ORPHANET_ID__c":"ORPHA:1132","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Arcos aórticos anómalos","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"arcos aórticos anómalos","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":"Congenital abnormalities of the aortic arch result from aberrant development of one or more components of the embyronic pharangeal arch system. Any component of this system can regress or persist abnormally, resulting in an extensive array of aortic arch anomalies. Clinically, they are classified by those that cause (or are likely to cause) physiological abnormalities and those that do not. Physiologic abnormalities include tracheobronchial compression, esophageal compression, and abnormal blood flow patterns.","Curated_Disease_Description_Source__c":"MONDO:15236","Name":"Aortic arch defects","estimateUsa":""}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cardiology","Tag_Category__c":"Specialist"},{"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":"Congenital Heart Disease","Tag_Category__c":"Specialist","curated_tag_name":"Congenital heart disease"},{"Tag_Name__c":"Vascular Medicine","Tag_Category__c":"Specialist","curated_tag_name":"Vascular diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:1132"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5680872","Source__c":"C5680872","Xref__c":"C5680872"},{"URL__c":"https://www.orpha.net/en/disease/detail/1132","Source__c":"C5680872; MONDO:0015236; ORPHA:1132","Xref__c":"ORPHA:1132"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1842770","Source__c":"C5680872","Xref__c":"MEDGEN:1842770"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015236","Source__c":"GARD:0000741","Xref__c":"MONDO:0015236"}],"tags":{"Specialist":["Cardiology","Pulmonology","Congenital Heart Disease","Vascular Medicine","Pediatrics"],"Disease Category":["Pulmonology","Congenital Abnormality"]},"synonyms":[""]}