ORPHA:156171
Retinal ciliopathy due to mutation in the RPGR gene
- 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 | Retinal ciliopathy due to mutation in the RPGR gene | |
| fr | Ciliopathie rétinienne due à une mutation du gène RPGR | |
| de | Ziliopathie, retinale, durch RPGR-Genmutation | |
| es | Ciliopatía retiniana por una mutación en el gen RPGR | Ciliopatía retinal por una mutación en el gen RPGR |
| it | Ciliopatia retinica da mutazione del gene di RPGR | |
| nl | Retinale ciliopathie door mutatie in RPGR-gen | |
| pt | Ciliopatia retiniana por mutação no gene RPGR | |
| pl | Rzęskopatia siatkówki z powodu mutacji w genie RPGR | |
| cs | Ciliopatie sítnice způsobená mutací v RPGR genu | |
| uk | Циліопатія сітківки внаслідок мутації в гені RPGR | |
| zh | RPGR基因突变所致视网膜睫状体病 | |
| tr | RPGR genindeki mutasyona bağlı retina siliyopati |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5680669 | 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:156165Retinal ciliopathy
rare genetic diseases
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/156171
- This record as JSON: /data/d/156171.json