ORPHA:98153
Maternal 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.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Maternal uniparental disomy syndrome | |
| fr | Syndrome de disomie uniparentale maternelle | |
| de | Uniparentale Disomie, maternale | |
| es | Síndrome de disomía uniparental materna | |
| it | Sindrome disomia uniparentale di origine materna | |
| nl | Maternale uniparentale disomie-syndroom | |
| pt | Dissomia uniparental de origem materna | |
| pl | Zespół jednorodzicielskiej disomii pochodzenia matczynego | |
| cs | Uniparentální dizomie maternálního původu | Maternální uniparentální dizomie |
| uk | Материнська уніпарентна дисомія | |
| zh | 母源性单亲二体 | |
| tr | Maternal uniparental dizomi |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | LD45.0 | E | specific | validated |
| UMLS | C4518512 | 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:98152Autosomal uniparental disomy syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
Children (14):
- ORPHA:251009Maternal uniparental disomy of chromosome 1 syndrome
- ORPHA:97678Maternal uniparental disomy of chromosome 13 syndrome
- ORPHA:96185Maternal uniparental disomy of chromosome 16 syndrome
- ORPHA:96179Maternal uniparental disomy of chromosome 2 syndrome
- ORPHA:96186Maternal uniparental disomy of chromosome 20 syndrome
- ORPHA:96187Maternal uniparental disomy of chromosome 21 syndrome
- ORPHA:96188Maternal uniparental disomy of chromosome 22 syndrome
- ORPHA:96180Maternal uniparental disomy of chromosome 4 syndrome
- ORPHA:96181Maternal uniparental disomy of chromosome 6 syndrome
- ORPHA:96183Maternal uniparental disomy of chromosome 9 syndrome
- ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
- ORPHA:231147Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
- ORPHA:96182Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
- ORPHA:96184Temple syndrome due to maternal uniparental disomy of chromosome 14
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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/98153
- This record as JSON: /data/d/98153.json