ORPHA:263775
Partial duplication of the short arm of chromosome X syndrome
Synonyms: Partial duplication of chromosome Xp · Partial trisomy of chromosome Xp · Partial trisomy of the short arm of chromosome X
- 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 | Partial duplication of the short arm of chromosome X syndrome | Partial duplication of chromosome Xp · Partial trisomy of chromosome Xp · Partial trisomy of the short arm of chromosome X |
| fr | Syndrome de duplication partielle du bras court du chromosome x | Duplication partielle du chromosome Xp · Trisomie partielle du bras court du chromosome X · Trisomie partielle du chromosome Xp |
| de | Chromosom X, partielle Duplikation des kurzen Arms | Chromosom Xp-Duplikation, partielle · Partielle Duplikation Xp · Partielle Trisomie des kurzen Arms von Chromosom X |
| es | Síndrome de duplicación parcial del brazo corto del cromosoma X | Duplicación parcial del cromosoma Xp · Trisomía parcial del brazo corto del cromosoma X · Trisomía parcial del cromosoma Xp |
| it | Sindrome duplicazione parziale del braccio corto del cromosoma X | Duplicazione parziale del cromosoma Xp · Trisomia parziale del braccio corto del cromosoma X · Trisomia parziale del cromosoma Xp |
| nl | Partiële duplicatie van de korte arm van chromosoom X-syndroom | Partiële duplicatie van chromosoom Xp · Partiële trisomie van chromosoom Xp · Partiële trisomie van de korte arm van chromosoom X |
| pt | Duplicação parcial do braço curto do cromossoma X | |
| pl | Zespół częściowej duplikacji krótkiego ramienia chromosomu X | Częściowa duplikacja chromosomu Xp · Częściowa trisomia chromosomu Xp · Częściowa trisomia krótkiego ramienia chromosomu X |
| cs | Parciální duplikace krátkého raménka chromozomu X | Parciální duplikace Xp · Parciální trizomie Xp · Parciální trizomie krátkého raménka chromozomu X |
| uk | Часткова дуплікація короткого плеча хромосоми Х | Часткова дуплікація хромосоми Xp · Часткова трисомія хромосоми Xp · Часткова трисомія короткого плеча хромосоми Х |
| zh | X染色体短臂部分重复 | X染色体短臂部分三体 |
| tr | X kromozomunun kısa kolunun kısmi duplikasyonu | Kromozom Xp nin kısmi trizomisi · Kromozom Xp nin kısmi duplikasyonu · Kromozom X in kısa kolunun kısmi trizomisi |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0017009 | E | validated | |
| MONDO | 17009 | E | validated | |
| UMLS | C5679686 | E | validated | |
| GARD | 12421 | 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 (1):
- ORPHA:263768Partial duplication of chromosome X syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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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/263775
- This record as JSON: /data/d/263775.json