ORPHA:98557
Syndromic aniridia
- 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 | Syndromic aniridia | |
| fr | Aniridie syndromique | |
| de | Aniridie, syndromale | |
| es | Aniridia sindrómica | |
| it | Aniridia sindromica | |
| nl | Syndromale aniridie | |
| pt | Aniridia sindromática | |
| pl | Aniridia syndromiczna | |
| cs | Syndromy s aniridií | |
| uk | Синдромальна аніридія | |
| zh | 综合征性无虹膜症 | |
| tr | Sendromik aniridi |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5681658 | 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:519276Anterior segment developmental anomaly with extraocular manifestations
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders
Children (6):
- ORPHA:1069Aniridia-absent patella syndrome
- ORPHA:1065Aniridia-cerebellar ataxia-intellectual disability syndrome
- ORPHA:1068Aniridia-intellectual disability syndrome
- ORPHA:1067Aniridia-ptosis-intellectual disability-familial obesity syndrome
- ORPHA:1064Aniridia-renal agenesis-psychomotor retardation syndrome
- ORPHA:893WAGR 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.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98557
- This record as JSON: /data/d/98557.json