{"orpha":169346,"name":"DNA repair defect other than combined T-cell and B-cell immunodeficiencies","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-169346/","orphanet_url":"https://www.orpha.net/en/disease/detail/169346","names":{"fr":{"name":"Anomalie de réparation de l'ADN autre qu'un déficit immunitaire combiné à cellules B et T"},"de":{"name":"DNA-Reparaturdefekt, ungleich kombinierter B- und T-Zell-Immundefekt"},"es":{"name":"Defecto en la reparación del ADN, diferente a las inmunodeficiencias combinadas de linfocitos T y B"},"it":{"name":"Difetto di riparazione del DNA diverso dalle immunodeficienze combinate dei linfociti T e B"},"nl":{"name":"DNA-hersteldefect anders dan gecombineerde T-cel- en B-cel-immuundeficiënties"},"pt":{"name":"Defeito de reparação do ADN que não imunodeficiências combinadas de células T e B"},"pl":{"name":"Defekt naprawy DNA inny niż złożony Niedobór odporności T-komórkowej i B-komórkowej"},"cs":{"name":"Jiný defekt reparace DNA než kombinovaná imunodeficience T-buněk a B-buněk"},"uk":{"name":"Дефект репарації ДНК, крім комбінованих Т-клітинних та В-клітинних імунодефіцитів"},"zh":{"name":"除外T细胞和B细胞联合免疫缺陷的DNA修复缺陷"},"tr":{"name":"Birleşik T hücresi ve B hücresi immün yetmezlikleri dışındaki DNA onarım hatası"}},"xrefs":[{"source":"ICD-11","code":"4A01.31","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1362501774"},{"source":"MONDO","code":"15707","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680459","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":506219,"name":"Rare disorder potentially indicated for hematopoietic stem cell transplant","classifications":[233]},{"orpha":331217,"name":"Syndrome with combined immunodeficiency","classifications":[156,195]}],"children":[{"orpha":100,"name":"Ataxia-telangiectasia","type":"Disease"},{"orpha":125,"name":"Bloom syndrome","type":"Disease"},{"orpha":505227,"name":"Combined immunodeficiency due to GINS1 deficiency","type":"Disease"},{"orpha":2268,"name":"ICF syndrome","type":"Malformation syndrome"},{"orpha":647,"name":"Nijmegen breakage syndrome","type":"Malformation syndrome"},{"orpha":240760,"name":"Nijmegen breakage syndrome-like disorder","type":"Malformation syndrome"},{"orpha":75391,"name":"Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency","type":"Disease"},{"orpha":420741,"name":"RIDDLE syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}