ORPHA:98154
Paternal uniparental disomy syndrome
- 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.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Paternal uniparental disomy syndrome | |
| fr | Syndrome de disomie uniparentale paternelle | |
| de | Uniparentale Disomie, paternale | |
| es | Síndrome de disomía uniparental paterna | |
| it | Sindrome disomia uniparentale di origine paterna | |
| nl | Paternale uniparentale disomie-syndroom | |
| pt | Dissomia uniparental de origem paterna | |
| pl | Zespół jednorodzicielskiej disomii pochodzenia ojcowskiego | |
| cs | Uniparentální dizomie paternálního původu | Paternální uniparentální dizomie |
| uk | Батькова уніпарентна дисомія | |
| zh | 父源性单亲二体 | |
| tr | Paternal uniparental dizomi |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | LD45.1 | E | specific | validated |
| UMLS | C4518513 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:98152Autosomal uniparental disomy syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
Children (10):
- ORPHA:98795Angelman syndrome due to paternal uniparental disomy of chromosome 15
- ORPHA:96193Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
- ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
- ORPHA:251004Paternal uniparental disomy of chromosome 1 syndrome
- ORPHA:99324Paternal uniparental disomy of chromosome 13 syndrome
- ORPHA:96194Paternal uniparental disomy of chromosome 20 syndrome
- ORPHA:96195Paternal uniparental disomy of chromosome 21 syndrome
- ORPHA:96190Paternal uniparental disomy of chromosome 5 syndrome
- ORPHA:96191Paternal uniparental disomy of chromosome 6 syndrome
- ORPHA:96192Paternal uniparental disomy of chromosome 7 syndrome
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
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/98154
- This record as JSON: /data/d/98154.json