{"orpha":331220,"name":"Syndome with combined immunodeficiency due to thymic defect","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.","url":"https://raremap.alftech.space/d/ORPHA-331220/","orphanet_url":"https://www.orpha.net/en/disease/detail/331220","names":{"fr":{"name":"Syndrome avec déficit immunitaire combiné dû à un défaut thymique","synonyms":["Immunodéficience par absence de thymus"]},"de":{"name":"Syndrom mit kombiniertem Immundefekt und Thymusdefekt","synonyms":["CID mit Thymusdefekt"]},"es":{"name":"Síndrome de inmunodeficiencia combinada por defecto tímico"},"it":{"name":"Sindrome con immunodeficienza combinata da difetto del timo"},"nl":{"name":"Syndroom met gecombineerde immuundeficiëntie door defect van thymus"},"pt":{"name":"Síndrome de imunodeficiência combinada devido a defeito tímico"},"pl":{"name":"Niedobór odporności spowodowany brakiem grasicy"},"cs":{"name":"Imunodeficience způsobená chyběním brzlíku"},"uk":{"name":"Синдром комбінованого імунодефіциту внаслідок ураження тимусу"},"zh":{"name":"胸腺缺失所致免疫缺陷"},"tr":{"name":"Timus yokluğuna bağlı immün yetmezlik"}},"xrefs":[{"source":"MONDO","code":"18036","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5925009","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":331217,"name":"Syndrome with combined immunodeficiency","classifications":[156,195]}],"children":[{"orpha":687695,"name":"10p13-p14 deletion syndrome","type":"Malformation syndrome"},{"orpha":567,"name":"22q11.2 deletion syndrome","type":"Malformation syndrome"},{"orpha":138,"name":"CHARGE syndrome","type":"Malformation syndrome"},{"orpha":685017,"name":"Combined immunodeficiency due to TBX1 mutation","type":"Disease"},{"orpha":2308,"name":"Jacobsen syndrome","type":"Malformation syndrome"},{"orpha":720357,"name":"Otofaciocervical syndrome with thymic hypoplasia","type":"Clinical subtype"},{"orpha":169095,"name":"T-B+NK+ severe combined immunodeficiency due to FOXN1 deficiency","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}