ORPHA:98132
Partial autosomal duplication/triplication syndrome
Synonyms: Partial autosomal trisomy/tetrasomy
- 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.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Partial autosomal duplication/triplication syndrome | Partial autosomal trisomy/tetrasomy |
| fr | Syndrome de duplications/triplications partielles des autosomes | Trisomies/tétrasomies partielles des autosomes |
| de | Partielle autosomale Duplikation/Triplikation | |
| es | Síndrome de duplicación/triplicación parcial de autosomas | Trisomía/tetrasomía parcial de los autosomas |
| it | Sindrome triplicazione/duplicazione autosomica parziale | Trisomia/tetrasomia autosomica parziale |
| nl | Partiële autosomale duplicatie/triplicatie-syndroom | Partiële autosomale trisomie/tetrasomie |
| pt | Duplicação/triplicação autossómica parcial | |
| pl | Zespół częściowej trisomii/tetrasomii autosomalnej | Częściowa duplikacja/triplikacja autosomu |
| cs | Trizomie části autozomů | = en |
| uk | Часткова аутосомна дуплікація/триплікація | Часткова аутосомна трисомія/тетрасомія |
| zh | 部分常染色体三体/四体 | |
| tr | Kısmi otozomal trizomi / tetrazomi |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5816694 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:98130Autosomal trisomy syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
Children (23):
- ORPHA:262191Partial duplication of chromosome 1 syndrome
- ORPHA:262648Partial duplication of chromosome 10 syndrome
- ORPHA:262653Partial duplication of chromosome 11 syndrome
- ORPHA:262672Partial duplication of chromosome 16 syndrome
- ORPHA:262677Partial duplication of chromosome 17 syndrome
- ORPHA:262687Partial duplication of chromosome 19 syndrome
- ORPHA:262196Partial duplication of chromosome 2 syndrome
- ORPHA:262692Partial duplication of chromosome 20 syndrome
- ORPHA:262201Partial duplication of chromosome 3 syndrome
- ORPHA:262206Partial duplication of chromosome 4 syndrome
- ORPHA:262628Partial duplication of chromosome 6 syndrome
- ORPHA:262633Partial duplication of chromosome 7 syndrome
- ORPHA:262638Partial duplication of chromosome 8 syndrome
- ORPHA:262932Partial duplication of the long arm of chromosome 13 syndrome
- ORPHA:262941Partial duplication of the long arm of chromosome 14 syndrome
- ORPHA:262950Partial duplication of the long arm of chromosome 15 syndrome
- ORPHA:263004Partial duplication of the long arm of chromosome 22 syndrome
- ORPHA:262682Partial duplication/triplication of chromosome 18 syndrome
- ORPHA:262211Partial duplication/triplication of chromosome 5 syndrome
- ORPHA:262643Partial duplication/triplication of chromosome 9 syndrome
- ORPHA:262658Partial duplication/triplication of the short arm of chromosome 12 syndrome
- ORPHA:717784Partial trisomy 12q syndrome
- ORPHA:96055Tetrasomy 21 syndrome
4
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.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98132
- This record as JSON: /data/d/98132.json