ORPHA:262968
Partial duplication of the long arm of chromosome 17 syndrome
Synonyms: Partial duplication of chromosome 17q · Partial trisomy of chromosome 17q · Partial trisomy of the long arm of chromosome 17
- 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 17 syndrome | Partial duplication of chromosome 17q · Partial trisomy of chromosome 17q · Partial trisomy of the long arm of chromosome 17 |
| fr | Syndrome de duplication partielle du bras long du chromosome 17 | Duplication partielle du chromosome 17q · Trisomie partielle du bras long du chromosome 17 · Trisomie partielle du chromosome 17q |
| de | Chromosom 17, partielle Duplikation des langen Arms | Chromosom 17q-Duplikation, partielle · Partielle Duplikation 17q · Partielle Trisomie des langen Arms von Chromosom 17 |
| es | Síndrome de duplicación parcial del brazo largo del cromosoma 17 | Duplicación parcial del cromosoma 17q · Trisomía parcial del brazo largo del cromosoma 17 · Trisomía parcial del cromosoma 17q |
| it | Sindrome duplicazione parziale del braccio lungo del cromosoma 17 | Duplicazione parziale del cromosoma 17q · Trisomia parziale del braccio lungo del cromosoma 17 · Trisomia parziale del cromosoma 17q |
| nl | Partiële trisomie van de lange arm van chromosoom 17-syndroom | Partiële duplicatie van chromosoom 17q · Partiële trisomie van chromosoom 17q · Partiële trisomie van de lange arm van chromosoom 17 |
| pt | Trissomia parcial do braço longo do cromossoma 17 | |
| pl | Zespół częściowej duplikacji długiego ramienia chromosomu 17 | Częściowa duplikacja chromosomu 17q · Częściowa trisomia chromosomu 17q · Częściowa trisomia długiego ramienia chromosomu 17 |
| cs | Parciální duplikace dlouhého raménka chromozomu 17 | Parciální duplikace 17q · Parciální trizomie 17q · Parciální trizomie dlouhého raménka chromozomu 17 |
| uk | Часткова дуплікація довгого плеча хромосоми 17 | Часткова дуплікація хромосоми 17q · Часткова трисомія хромосоми 17q · Часткова трисомія довгого плеча хромосоми 17 |
| zh | 17号染色体长臂部分重复 | 17号染色体长臂部分三体 |
| tr | 17. kromozomun uzun kolunun kısmi duplikasyonu | 17q kromozomunun kısmi trizomisi · 17q kromozomunun kısmi duplikasyonu · 17. Kromozomun uzun kolunun kısmi trizomisi |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | LD41.G0 | E | specific | validated |
| MONDO | 0016967 | E | validated | |
| MONDO | 16967 | E | validated | |
| UMLS | C5679698 | 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:262677Partial duplication of chromosome 17 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
Children (6):
- ORPHA:13947417q11.2 microduplication syndrome
- ORPHA:26127217q12 microduplication syndrome
- ORPHA:21734017q21.31 microduplication syndrome
- ORPHA:3379Distal duplication 17q syndrome
- ORPHA:238578Familial clubfoot due to 17q23.1q23.2 microduplication
- ORPHA:477817PMP22-RAI1 contiguous gene duplication 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.
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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/262968
- This record as JSON: /data/d/262968.json