ORPHA:156177
Retinal ciliopathy due to mutation in Usher 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 Usher gene | |
| fr | Ciliopathie rétinienne due à une mutation du gène Usher | |
| de | Ziliopathie, retinale, durch Mutationen im Usher-Gen | |
| es | Ciliopatía retiniana por una mutación en el gen Usher | Ciliopatía retinal por una mutación en el gen Usher |
| it | Ciliopatia retinica da mutazione del gene di Usher | |
| nl | Retinale ciliopathie door mutatie in Usher-gen | |
| pt | Ciliopatia retiniana por mutação no gene do síndrome de Usher | |
| pl | Rzęskopatia siatkówki z powodu mutacji w genie Ushera | |
| cs | Ciliopatie sítnice způsobená mutací v Usherově genu | |
| uk | Циліопатія сітківки внаслідок мутації в гені Ашера | |
| zh | Usher基因突变所致视网膜睫状体病 | |
| tr | Usher genindeki mutasyona bağlı retina siliyopati |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5680671 | 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/156177
- This record as JSON: /data/d/156177.json