ORPHA:263783
Partial duplication of the long arm of chromosome X syndrome
Synonyms: Partial duplication of chromosome Xq · Partial trisomy of chromosome Xq · Partial trisomy of the long 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 long arm of chromosome X syndrome | Partial duplication of chromosome Xq · Partial trisomy of chromosome Xq · Partial trisomy of the long arm of chromosome X |
| fr | Syndrome de duplication partielle du bras long du chromosome x | Duplication partielle du chromosome Xq · Trisomie partielle du bras long du chromosome X |
| de | Chromosom X, partielle Duplikation des langen Arms | Chromosom Xq-Duplikation, partielle · Partielle Trisomie Xq · Partielle Trisomie des langen Arms von Chromosom X |
| es | Síndrome de duplicación parcial del brazo largo del cromosoma X | Duplicación parcial del cromosoma Xq · Trisomía parcial del brazo largo del cromosoma X · Trisomía parcial del cromosoma Xq |
| it | Sindrome duplicazione parziale del braccio lungo del cromosoma X | Duplicazione parziale del cromosoma Xq · Trisomia parziale del braccio lungo del cromosoma X · Trisomia parziale del cromosoma Xq |
| nl | Partiële duplicatie van de lange arm van chromosoom 14-syndroom | Partiële duplicatie van chromosoom Xq · Partiële trisomie van chromosoom Xq · Partiële trisomie van de lange arm van chromosoom X |
| pt | Duplicação parcial do braço longo do cromossoma X | |
| pl | Zespół częściowej duplikacji długiego ramienia chromosomu X | Częściowa duplikacja chromosomu Xq · Częściowa duplikacja chromosomu Xq · Częściowa trisomia długiego ramienia chromosomu X |
| cs | Parciální duplikace dlouhého raménka chromozomu X | Parciální duplikace chromozomu Xq · Parciální trizomie chromozomu Xq · Parciální trizomie dlouhého raménka chromozomu X |
| uk | Часткова дуплікація довгого плеча хромосоми Х | Часткова дуплікація хромосоми Xq · Часткова трисомія хромосоми Xq · Часткова трисомія довгого плеча хромосоми Х |
| zh | X染色体长臂部分重复 | X染色体长臂部分三体 |
| tr | X kromozomunun uzun kolunun kısmi duplikasyonu | Kromozom Xq nin kısmi trizomisi · Kromozom Xq nun kısmi duplikasyonu · Kromozom X in uzun kolunun kısmi trizomisi |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0017010 | E | validated | |
| MONDO | 17010 | E | validated | |
| UMLS | C5679685 | 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/263783
- This record as JSON: /data/d/263783.json