ORPHA:263793
Uniparental disomy of chromosome X syndrome
Synonyms: UPD(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 | Uniparental disomy of chromosome X syndrome | UPD(X) |
| fr | Syndrome de disomie uniparentale du chromosome x | = en |
| de | Uniparentale Disomie X | UPDX |
| es | Síndrome de disomía uniparental del cromosoma X | = en |
| it | Sindrome disomia uniparentale del cromosoma X | = en |
| nl | Uniparentale disomie van chromosoom X-syndroom | = en |
| pt | Disomia uniparental do cromossoma X | |
| pl | Zespół disomii jednorodzicielskiej chromosomu X | = en |
| cs | Uniparentální dizomie chromozomu X | = en |
| uk | Однобатьківська дисомія хромосоми Х | = en |
| zh | X染色体单亲二倍体 | X染色体单亲二倍体 |
| tr | X kromozomu uniparental dizomisi | = en |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 17011 | E | validated | |
| UMLS | C5679684 | 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:98159Chromosome X structural anomaly 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/263793
- This record as JSON: /data/d/263793.json