ORPHA:262110
Partial deletion of the long arm of chromosome 14 syndrome
Synonyms: Partial deletion of chromosome 14q · Partial monosomy of chromosome 14q · Partial monosomy of the long arm of chromosome 14
- 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 deletion of the long arm of chromosome 14 syndrome | Partial deletion of chromosome 14q · Partial monosomy of chromosome 14q · Partial monosomy of the long arm of chromosome 14 |
| fr | Syndrome de délétion partielle du bras long du chromosome 14 | Délétion partielle du chromosome 14q · Monosomie partielle du chromosome 14q · Monosomie partielle du long court du chromosome 14 |
| de | Chromosom 14q-Deletion, partielle | Partielle Monosomie des langen Arms von Chromosom 14 · Chromosom 14, partielle Deletion des langen Arms · Partielle Monosomie 14q |
| es | Síndrome de deleción parcial del brazo largo del cromosoma 14 | Deleción parcial del cromosoma 14q · Monosomía parcial del brazo largo del cromosoma 14 · Monosomía parcial del cromosoma 14q |
| it | Sindrome delezione parziale del braccio lungo del cromosoma 14 | Delezione parziale del cromosoma 14q · Monosomia parziale del braccio lungo del cromosoma 14 · Monosomia parziale del cromosoma 14q |
| nl | Partiële deletie van de lange arm van chromosoom 14-syndroom | Partiële deletie van chromosoom 14q · Partiële monosomie van chromosoom 14q · Partiële monosomie van de lange arm van chromosoom 14 |
| pt | Monossomia parcial do braço longo do cromossoma 14 | |
| pl | Zespół częściowej delecji długiego ramienia chromosomu 14 | Częściowa delecja chromosomu 14q · Cześciowa monosomia chromosomu 14q · Częściowa monosomia długiego ramienia chromosomu 14 |
| cs | Parciální delece dlouhého raménka chromozomu 14 | Parciální delece 14q · Parciální monozomie 14q · Parciální monozomie dlouhého raménka chromozomu 14 |
| uk | Часткова делеція довгого плеча хромосоми 14 | Часткова делеція хромосоми 14q · Часткова моносомія хромосоми 14q · Часткова моносомія довгого плеча хромосоми 14 |
| zh | 14号染色体长臂部分缺失 | 14号染色体长臂部分单体 |
| tr | 14. kromozomun uzun kolunun kısmi delesyonu | 14q kromozomunun kısmi delesyonu · 14q kromozomunun kısmi monozomisi · 14. kromozomun uzun kolunun kısmi monozomisi |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0016912 | E | validated | |
| MONDO | 16912 | E | validated | |
| MeSH | C538031 | E | validated | |
| UMLS | C2931697 | 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:98142Partial autosomal deletion syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
Children (7):
- ORPHA:26112014q11.2 microdeletion syndrome
- ORPHA:26420014q22q23 microdeletion syndrome
- ORPHA:40193514q24.1q24.3 microdeletion syndrome
- ORPHA:96150Distal deletion 14q syndrome
- ORPHA:261144FOXG1 syndrome due to 14q12 microdeletion
- ORPHA:254528Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
- ORPHA:254525Temple syndrome due to paternal 14q32.2 microdeletion
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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/262110
- This record as JSON: /data/d/262110.json