{"orpha":101089,"name":"Hyper-IgM syndrome type 2","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["AID deficiency","Activation-induced cytidine deaminase deficiency","HIGM2"],"definition":null,"note":"This disease is described under Hyper-IgM syndrome without susceptibility to opportunistic infections","url":"https://raremap.alftech.space/d/ORPHA-101089/","orphanet_url":"https://www.orpha.net/en/disease/detail/101089","names":{"fr":{"name":"Syndrome hyper-IgM type 2","synonyms":["Déficit en AID","Déficit en activation-induced cytidine deaminase","HIGM2"]},"de":{"name":"Hyper-IgM-Syndrom Typ 2","synonyms":["AID-Mangel","Activation-induced Cytidine-Deaminase-Mangel","HIGM2"]},"es":{"name":"Síndrome de hiper-IgM tipo 2","synonyms":["Deficiencia de AID","Deficiencia de citidina deaminasa inducida por activación","HIGM2"]},"it":{"name":"Sindrome iper-IgM, tipo 2","synonyms":["Deficit di AID","Deficit di citidina deaminasi indotta da attivazione","HIGM2"]},"nl":{"name":"Hyper-IgM-syndroom type 2","synonyms":["AID-deficiëntie","Activatie-geïnduceerde cytidinedeaminasedeficiëntie","HIGM2"]},"pt":{"name":"Síndrome hiper-IgM tipo 2"},"pl":{"name":"Zespół hiper-IgM typu 2","synonyms":["HIGM2","Niedobór AID","Niedobór deaminazy cytydyny indukowanej aktywacją limfocytów"]},"cs":{"name":"Hyper-IgM syndrom, typ 2","synonyms":["AID deficit","Deficit cytidin deaminázy indukovaný aktivitou","HIGM2","Syndrom hyperimunoglobulinemie IgM, typ 2"]},"uk":{"name":"Синдром гіпер-IgM, тип 2","synonyms":["Дефіцит цитидиндезамінази, спричинений активацією","Дефіцит AID","HIGM2"]},"zh":{"name":"高IgM综合征2型","synonyms":["活性胞苷脱氨酶缺陷"]},"tr":{"name":"Hiper-IgM sendromu tip 2","synonyms":["HIGM2","AID eksikliği","Aktivasyon kaynaklı sitidin deaminaz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"605258","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D80.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A01.05","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"603312357"},{"source":"MONDO","code":"0011528","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1720956","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10578","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":183666,"name":"Hyper-IgM syndrome without susceptibility to opportunistic infections","classifications":[156,195,233]},{"orpha":717757,"name":"Rare immune disease with inflammatory bowel disease","classifications":[152,156,233]}],"children":[],"genes":[{"symbol":"AICDA","name":"activation induced cytidine deaminase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"11007475[PMID]","hgnc":"13203","ensembl":"ENSG00000111732","omim":"605257","loci":["12p13.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}