ORPHA:156165
Retinal ciliopathy
- 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 | |
| fr | Ciliopathie rétinienne | |
| de | Ziliopathie, retinale | |
| es | Ciliopatía retiniana | Ciliopatía retinal |
| it | Ciliopatia retinica | |
| nl | Retinale ciliopathie | |
| pt | Ciliopatia retiniana | |
| pl | Rzęskopatia siatkówki | |
| cs | Ciliopatie sítnice | |
| uk | Циліопатія сітківки | |
| zh | 视网膜睫状体病 | |
| tr | Retina siliopatisi |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0022410 | E | validated | |
| UMLS | C5680651 | 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:363250Ciliopathy
rare genetic diseases
Children (15):
- ORPHA:64Alström syndrome
- ORPHA:289Ellis-Van Creveld syndrome
- ORPHA:474Jeune syndrome
- ORPHA:1454Joubert syndrome with hepatic defect
- ORPHA:220493Joubert syndrome with ocular anomaly
- ORPHA:75858MORM syndrome
- ORPHA:564Meckel syndrome
- ORPHA:156183Retinal ciliopathy due to mutation in Bardet-Biedl gene
- ORPHA:156177Retinal ciliopathy due to mutation in Usher gene
- ORPHA:156180Retinal ciliopathy due to mutation in nephronophthisis gene
- ORPHA:156171Retinal ciliopathy due to mutation in the RPGR gene
- ORPHA:156174Retinal ciliopathy due to mutation in the RPGRIP gene
- ORPHA:156168Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene
- ORPHA:3085Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome
- ORPHA:506307Stromme 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/156165
- This record as JSON: /data/d/156165.json