ORPHA:169346
DNA repair defect other than combined T-cell and B-cell immunodeficiencies
- Type
- Category
- Group
- Group of disorders
- Status
- active
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.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | DNA repair defect other than combined T-cell and B-cell immunodeficiencies | |
| fr | Anomalie de réparation de l'ADN autre qu'un déficit immunitaire combiné à cellules B et T | |
| de | DNA-Reparaturdefekt, ungleich kombinierter B- und T-Zell-Immundefekt | |
| es | Defecto en la reparación del ADN, diferente a las inmunodeficiencias combinadas de linfocitos T y B | |
| it | Difetto di riparazione del DNA diverso dalle immunodeficienze combinate dei linfociti T e B | |
| nl | DNA-hersteldefect anders dan gecombineerde T-cel- en B-cel-immuundeficiënties | |
| pt | Defeito de reparação do ADN que não imunodeficiências combinadas de células T e B | |
| pl | Defekt naprawy DNA inny niż złożony Niedobór odporności T-komórkowej i B-komórkowej | |
| cs | Jiný defekt reparace DNA než kombinovaná imunodeficience T-buněk a B-buněk | |
| uk | Дефект репарації ДНК, крім комбінованих Т-клітинних та В-клітинних імунодефіцитів | |
| zh | 除外T细胞和B细胞联合免疫缺陷的DNA修复缺陷 | |
| tr | Birleşik T hücresi ve B hücresi immün yetmezlikleri dışındaki DNA onarım hatası |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | 4A01.31 | E | specific | validated |
| MONDO | 15707 | E | validated | |
| UMLS | C5680459 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:506219Rare disorder potentially indicated for hematopoietic stem cell transplant
rare transplant-related disorders - ORPHA:331217Syndrome with combined immunodeficiency
rare genetic diseases; rare immunological diseases
Children (8):
- ORPHA:100Ataxia-telangiectasia
- ORPHA:125Bloom syndrome
- ORPHA:505227Combined immunodeficiency due to GINS1 deficiency
- ORPHA:2268ICF syndrome
- ORPHA:647Nijmegen breakage syndrome
- ORPHA:240760Nijmegen breakage syndrome-like disorder
- ORPHA:75391Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
- ORPHA:420741RIDDLE syndrome
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Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/169346
- This record as JSON: /data/d/169346.json