{"orpha":595098,"name":"Timothy syndrome type 1","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["LQT8 type 1","TS1"],"definition":null,"note":"This disease is described under Timothy syndrome","url":"https://raremap.alftech.space/d/ORPHA-595098/","orphanet_url":"https://www.orpha.net/en/disease/detail/595098","names":{"fr":{"name":"Syndrome de Timothy type 1","synonyms":["LQT8 type 1","TS1"]},"de":{"name":"Timothy -Syndrom Typ 1","synonyms":["LQT8 Typ 1","TS1"]},"es":{"name":"Síndrome de Timothy tipo 1","synonyms":["LQT8 tipo 1"]},"it":{"name":"Sindrome di Timothy tipo 1","synonyms":["LQT8 tipo 1","TS1"]},"nl":{"name":"Syndroom van Timothy type 1","synonyms":["LQT8 type 1","TS1"]},"pt":{"name":"Síndrome Timothy tipo 1","synonyms":["LQT8 tipo 1","TS1"]},"pl":{"name":"Zespół Timothy typu 1","synonyms":["LQT8 typu 1"]},"cs":{"name":"Syndrom Timothyové, typ 1","synonyms":["LQT8 type 1","TS1"]},"uk":{"name":"Синдром Тімоті, тип 1","synonyms":["LQT8 тип 1","TS1"]},"zh":{"name":"Timothy syndrome type 1","synonyms":["LQT8 type 1","TS1"]},"tr":{"name":"Timothy syndrome type 1","synonyms":["LQT8 type 1","TS1"]}},"xrefs":[{"source":"ICD-10","code":"I49.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"BC65.0","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0035678","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5574939","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97929,"name":"Rare cardiac disease"},"parents":[{"orpha":65283,"name":"Timothy syndrome","classifications":[146,156,181]}],"children":[],"genes":[{"symbol":"CACNA1C","name":"calcium voltage-gated channel subunit alpha1 C","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15454078[PMID]","hgnc":"1390","ensembl":"ENSG00000151067","omim":"114205","loci":["12p13.33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Neonatal"],"prevalence":[],"phenotypes":null}