{"Name":"Long QT syndrome","DiseaseID__c":"GARD:0027044","id":27044,"encodedName":"long-qt-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Long QT syndrome","Xref_IDs__c":"9651007; C0023976; C34786; D008133; DOID:2843; I45.81; MEDGEN:44193; MONDO:0002442; NBK1129","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":1,"No_of_HHS_records__c":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":3,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":2,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0002442","Disease_Description__c":"A condition that is characterized by episodes of fainting (syncope) and varying degree of ventricular arrhythmia as indicated by the prolonged QT interval. The inherited forms are caused by mutation of genes encoding cardiac ion channel proteins. The two major forms are Romano-Ward syndrome (also known as long QT syndrome 1) and Jervell-Lange Nielsen syndrome.","GARD_Name__c":"Long QT syndrome","GARD_Synonym__c":"long q-t syndrome; lqt; lqts; prolonged q-t interval syndrome; ventricular arrhythmia associated with long qt syndrome","Curated_Disease_Description_Source__c":"MONDO:0002442","Curated_Disease_Description__c":"A condition that is characterized by episodes of fainting (syncope) and varying degree of ventricular arrhythmia as indicated by the prolonged QT interval. The inherited forms are caused by mutation of genes encoding cardiac ion channel proteins. The two major forms are Romano-Ward syndrome (also known as long QT syndrome 1) and Jervell-Lange Nielsen syndrome.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":null,"Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0002442","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"A condition that is characterized by episodes of fainting (syncope) and varying degree of ventricular arrhythmia as indicated by the prolonged QT interval. The inherited forms are caused by mutation of genes encoding cardiac ion channel proteins. The two major forms are Romano-Ward syndrome (also known as long QT syndrome 1) and Jervell-Lange Nielsen syndrome.","Curated_Disease_Description_Source__c":"MONDO:0002442","GARD_Synonym__c":"long q-t syndrome; lqt; lqts; prolonged q-t interval syndrome; ventricular arrhythmia associated with long qt syndrome","Name":"Long QT syndrome","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"SADS Foundation","Website__c":"https://www.sads.org/"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C008133","Source__c":"C0023976; MONDO:0002442","Xref__c":"D008133"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0023976","Source__c":"C0023976","Xref__c":"C0023976"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C34786","Source__c":"C0023976; MONDO:0002442","Xref__c":"C34786"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=44193","Source__c":"C0023976","Xref__c":"MEDGEN:44193"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/I45.81","Source__c":"MONDO:0002442","Xref__c":"I45.81"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A2843","Source__c":"MONDO:0002442","Xref__c":"DOID:2843"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0002442","Source__c":"GARD:0027044","Xref__c":"MONDO:0002442"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=9651007","Source__c":"C0023976","Xref__c":"9651007"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1129","Source__c":"Gene Review","Xref__c":"NBK1129"},{"URL__c":"https://www.nhlbi.nih.gov/health/long-qt-syndrome"}],"tags":{},"synonyms":["long q-t syndrome"," lqt"," lqts"," prolonged q-t interval syndrome"," ventricular arrhythmia associated with long qt syndrome"]}