{"Name":"Transposition of the great arteries","DiseaseID__c":"GARD:0007795","id":7795,"encodedName":"transposition-of-the-great-arteries","IsDeleted":false,"Disease_Name_Full__c":"Transposition of the great arteries","Xref_IDs__c":"C0040761; C84742; D014188; HP:0001669; MEDGEN:21245; MONDO:0000153; ORPHA:216675","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":0,"World_Estimate__c":"800,000 to 5,000,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0000153","Disease_Description__c":"A congenital cardiac defect in which two heart vessels are reversed (transposed).","GARD_Name__c":"Transposition of the great arteries","GARD_Synonym__c":"classical transposition of great vessels; complete transposition; complete transposition of great vessels; great vessels transposition; tga; tgv; total great vessel transposition; transposition of great vessels; transposition of the great vessels","Curated_Disease_Description_Source__c":"GARD:0007795","Curated_Disease_Description__c":"Transposition of the great arteries (TGA) is a type of congenital heart defect in which there is a reversal of the normal connections of the aorta and the pulmonary artery with the heart. The aorta and pulmonary artery are reversed, which causes oxygen-poor blood to be circulated to the body and oxygen-rich blood to be circulated between the lungs and the heart, rather than to the body. Symptoms are apparent at birth and include great difficulty breathing and severe cyanosis (a bluish discoloration of the skin). The exact cause of TGA in most cases is unknown. Surgery is done to correct the abnormality during the first few days of life.","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:216675","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0000153","ORPHANET_ID__c":"ORPHA:216675","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Transposición de las grandes arterias","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"transposición de las grandes arterias","Spanish_GARD_Synonym__c":"tga; tgv; transposición completa; transposición de los grandes vasos","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":"Transposition of the great arteries (TGA) is a type of congenital heart defect in which there is a reversal of the normal connections of the aorta and the pulmonary artery with the heart. The aorta and pulmonary artery are reversed, which causes oxygen-poor blood to be circulated to the body and oxygen-rich blood to be circulated between the lungs and the heart, rather than to the body. Symptoms are apparent at birth and include great difficulty breathing and severe cyanosis (a bluish discoloration of the skin). The exact cause of TGA in most cases is unknown. Surgery is done to correct the abnormality during the first few days of life.","Curated_Disease_Description_Source__c":"GARD:0007795","GARD_Synonym__c":"classical transposition of great vessels; complete transposition; complete transposition of great vessels; great vessels transposition; tga; tgv; total great vessel transposition; transposition of great vessels; transposition of the great vessels","Name":"Transposition of the great arteries","Curated_USA_Estimate__c":"200,000","estimateUsa":"200,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Adult Congenital Heart Association","Website__c":"https://www.achaheart.org/"},{"Account_Name__c":"American Heart Association","Website__c":"https://www.heart.org"},{"Account_Name__c":"Mended Hearts","Website__c":"https://mendedhearts.org/"},{"Account_Name__c":"The Children's Heart Foundation","Website__c":"https://www.childrensheartfoundation.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cardiology","Tag_Category__c":"Specialist"},{"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:216675"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:216675"}],"Diagnosis__c":[{"Type__c":"NEWBORN","Category__c":"Core","Curie__c":"http://newbornscreeningcodes.nlm.nih.gov/nb/sc/condition/CCHD"},{"Type__c":"GTR","Curie__c":"MEDGEN:C1837341"}],"External_Identifier_Disease__c":[{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84742","Source__c":"C0040761; MONDO:0000153","Xref__c":"C84742"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=21245","Source__c":"C0040761","Xref__c":"MEDGEN:21245"},{"URL__c":"https://www.orpha.net/en/disease/detail/216675","Source__c":"C0040761; MONDO:0000153; ORPHA:216675","Xref__c":"ORPHA:216675"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C014188","Source__c":"C0040761; MONDO:0000153","Xref__c":"D014188"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0040761","Source__c":"C0040761","Xref__c":"C0040761"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=26146002","Source__c":"C0040761","Xref__c":"26146002"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0000153","Source__c":"GARD:0007795","Xref__c":"MONDO:0000153"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0001669","Source__c":"C0040761","Xref__c":"HP:0001669"}],"Inheritance__c":["Non-Mendelian inheritance"],"tags":{"Specialist":["Cardiology","Congenital Heart Disease","Pediatrics"],"Disease Category":["Congenital Abnormality"]},"synonyms":["classical transposition of great vessels"," complete transposition"," complete transposition of great vessels"," great vessels transposition"," tga"," tgv"," total great vessel transposition"," transposition of great vessels"," transposition of the great vessels"]}