{"orpha":726788,"name":"Calcium release deficiency syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CRDS"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-726788/","orphanet_url":"https://www.orpha.net/en/disease/detail/726788","names":{"fr":{"name":"Syndrome du déficit de la libération du calcium","synonyms":["CRDS"]},"de":{"name":"Kalziumfreisetzungsmangel-Syndrom","synonyms":["CRDS"]},"es":{"name":"Síndrome de deficiencia en la liberación de calcio","synonyms":["CRDS"]},"it":{"name":"Sindrome da deficit di rilascio del calcio","synonyms":["CRDS"]},"nl":{"name":"Syndroom van deficiëntie van calciumvrijzetting","synonyms":["CRDS"]},"pt":{"name":"Calcium release deficiency syndrome"},"pl":{"name":"Calcium release deficiency syndrome","synonyms":["CRDS"]},"cs":{"name":"Calcium release deficiency syndrome","synonyms":["CRDS"]}},"xrefs":[{"source":"OMIM","code":"115000","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97929,"name":"Rare cardiac disease"},"parents":[{"orpha":101934,"name":"Genetic cardiac rhythm disease","classifications":[146,156]}],"children":[],"genes":[{"symbol":"RYR2","name":"ryanodine receptor 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"33536282[PMID]_38900490[PMID]","hgnc":"10484","ensembl":"ENSG00000198626","omim":"180902","loci":["1q43"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}