ORPHA:262658
Partial duplication/triplication of the short arm of chromosome 12 syndrome
Synonyms: Partial duplication/triplication of chromosome 12p · Partial trisomy/tetrasomy of chromosome 12p · Partial trisomy/tetrasomy of the short arm of chromosome 12
- 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 duplication/triplication of the short arm of chromosome 12 syndrome | Partial duplication/triplication of chromosome 12p · Partial trisomy/tetrasomy of chromosome 12p · Partial trisomy/tetrasomy of the short arm of chromosome 12 |
| fr | Syndrome de duplication/triplication partielle du bras court du chromosome 12 | Duplication/triplication partielle du chromosome 12p · Trisomie/tétrasomie partielle du bras court du chromosome 12 · Trisomie/tétrasomie partielle du chromosome 12p |
| de | Partielle Duplikation/Triplikation des kurzen Arms von Chromosom 12 | Partielle Duplikation/Triplikation von Chromosom 12p · Partielle Trisomie/Tetrasomie 12p |
| es | Síndrome de duplicación/triplicación parcial del brazo corto del cromosoma 12 | Duplicación/triplicación parcial del cromosoma 12p · Trisomía/tetrasomía parcial del brazo corto del cromosoma 12 · Trisomía/tetrasomía parcial del cromosoma 12p |
| it | Sindrome duplicazione/triplicazione parziale del braccio corto del cromosoma 12 | Trisomia/tetrasomia parziale del braccio corto del cromosoma 12 · Duplicazione/triplicazione parziale del cromosoma 12p · Trisomia/tetrasomia parziale del cromosoma 12p |
| nl | Partiële duplicatie/triplicatie van de korte arm van chromosoom 12-syndroom | Partiële duplicatie/triplicatie van chromosoom 12p · Partiële trisomie/tetrasomie van chromosoom 12p · Partiële trisomie/tetrasomie van de korte arm van chromosoom 12 |
| pt | Duplicação/triplicação parcial do braço curto do cromossoma 12 | Duplicação/triplicação parcial do cromossoma 12 · Trissomia/tetrasomia parcial do braço curto do cromossoma 12 · Trissomia/tetrasomia parcial do cromossoma 12p |
| pl | Zespół częściowej duplikacji/triplikacji krótkiego ramienia chromosomu 12 | Częściowa duplikacja/triplikacja chromosomu 12p · Częściowa duplikacja/triplikacja krótkiego ramienia chromosomu 12 · Częściowa trisomia/tetrasomia chromosomu 12p |
| cs | Parciální trizomie/tetrazomie krátkého raménka chromozomu 12 | Parciální duplikace/triplikace 12p · Parciální duplikace/triplikace krátkého raménka chromozomu 12 · Parciální trizomie/tetrazomie 12p |
| uk | Часткова дуплікація/триплікація короткого плеча хромосоми 12 | Часткова дуплікація/триплікація хромосоми 12p · Часткова трисомія/тетрасомія хромосоми 12р · Часткова трисомія/тетрасомія короткого плеча хромосоми 12 |
| zh | 12号染色体短臂部分三体/四体 | 12号染色体短臂部分重复/三体 |
| tr | 12. kromozomun kısa kolunun kısmi trizomisi / tetrazomisi | 12p kromozomunun kısmi trizomi/tetrasomisi · 12p kromozomunun kısmi duplikasyonu/triplikasyonu · 12. kromozomun kısa kolunun kısmi duplikasyonu/triplikasyonu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0016933 | E | validated | |
| MONDO | 16933 | E | validated | |
| UMLS | C5679724 | 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:98132Partial autosomal duplication/triplication syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
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/262658
- This record as JSON: /data/d/262658.json