ORPHA:156168
Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene
Synonyms: Retinal ciliopathy due to mutation in RP1 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.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene | Retinal ciliopathy due to mutation in RP1 gene |
| fr | Ciliopathie rétinienne due à une mutation du gène retinitis pigmentosa-1 | |
| de | Ziliopathie, retinale, durch RP1 (retinitis pigmentosa-1)-Genmutation | |
| es | Ciliopatía retiniana por una mutación en el gen de la retinosis pigmentaria-1 | Ciliopatía retinal por una mutación en el gen de la retinosis pigmentaria-1 |
| it | Ciliopatia retinica da mutazione del gene della retinite pigmentosa-1 | Ciliopatia retinica da mutazione del gene RP1 · Ciliopatia retinica dovuta a mutazione del gene RP1 |
| nl | Retinale ciliopathie door mutatie in retinitis pigmentosa-1-gen | Retinale ciliopathie door mutatie in RP1-gen |
| pt | Ciliopatia retiniana por mutação no gene da retinite pigmentosa-1 | RP1 |
| pl | Rzęskopatia siatkówki z powodu mutacji w genie zwyrodnienia barwnikowego siatkówki-1 | Rzęskopatia siatkówki z powodu mutacji w genie RP1 |
| cs | Ciliopatie sítnice způsobená mutací v retinitis pigmentosa-1 genu | Ciliopatie sítnice způsobená mutací v RP1 genu |
| uk | Циліопатія сітківки внаслідок мутації в гені пігментної дегенерації сітківки-1 | Циліопатія сітківки внаслідок мутації в гені RP1 |
| zh | 视网膜色素变性-1基因突变所致视网膜睫状体病 | RP1基因突变所致视网膜睫状体病变 |
| tr | Retinitis pigmentosa-1 genindeki mutasyona bağlı retina siliyopati | RP1 genindeki mutasyona bağlı retina siliyopati |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5679609 | 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:156165Retinal ciliopathy
rare genetic diseases
Children (1):
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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/156168
- This record as JSON: /data/d/156168.json