ORPHA:316244
Partial deletion of the short arm of chromosome 12 syndrome
Synonyms: Partial deletion of chromosome 12p · Partial monosomy of chromosome 12p · Partial monosomy 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.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Partial deletion of the short arm of chromosome 12 syndrome | Partial deletion of chromosome 12p · Partial monosomy of chromosome 12p · Partial monosomy of the short arm of chromosome 12 |
| fr | Syndrome de délétion partielle du bras court du chromosome 12 | Délétion partielle du chromosome 12p · Monosomie partielle du bras court du chromosome 12 · Monosomie partielle du chromosome 12p |
| de | Chromosom 12, partielle Deletion des kurzen Arms | Chromosom 12p-Deletion, partielle · Partielle Monosomie 12p · Partielle Monosomie des kurzen Arms von Chromosom 12 |
| es | Síndrome de deleción parcial del brazo corto del cromosoma 12 | Deleción parcial del cromosoma 12p · Monosomía parcial del brazo corto del cromosoma 12 · Monosomía parcial del cromosoma 12p |
| it | Sindrome delezione parziale del braccio corto del cromosoma 12 | Delezione parziale del cromosoma 12p · Monosomia parziale del braccio corto del cromosoma 12 · Monosomia parziale del cromosoma 12p |
| nl | Partiële deletie van de korte arm van chromosoom 12-syndroom | Partiële monosomie van chromosoom 12p · Partiële monosomie van de korte arm van chromosoom 12 · Partiële deletie van chromosoom 12p |
| pt | Deleção parcial do braço curto do cromossoma 12 | Deleção parcial do cromossoma 12p · Monossomia parcial do braço curto do cromossoma 12 · Monossomia parcial do cromossoma 12p |
| pl | Zespół częściowej delecji krókiego ramienia chromosomu 12 | Częściowa delecja chromosomu 12p · Częściowa monosomia chromosomu 12p · Częściowa monosomia krótkiego ramienia chromosomu 12p |
| cs | Částečná delece krátkého raménka chromozomu 12 | Částečná delece chromozomu 12p · Částečná monozomie chromozomu 12p · Částečná monozomie krátkého raménka chromozomu 12 |
| uk | Часткова делеція короткого плеча хромосоми 12 | Часткова делеція хромосоми 12p · Часткова моносомія хромосоми 12p · Часткова моносомія короткого плеча хромосоми 12 |
| zh | 12号染色体短臂部分缺失 | 12号染色体短臂部分单体 |
| tr | 12. kromozomun kısa kolunun kısmi delesyonu | 12p kromozomunun delesyonu · 12p kromozomunun kısmi monozomisi · 12. kromozomun kısa kolunun kısmi monozomisi |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0022174 | E | validated | |
| MeSH | C538302 | E | validated | |
| UMLS | C2931805 | 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:282124Partial deletion of chromosome 12 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/316244
- This record as JSON: /data/d/316244.json