cone dystrophy
Information
- Disease name
- cone dystrophy
- Disease ID
- DOID:0050795
- Description
- "A retinal disease that is characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision." [url:http\://en.wikipedia.org/wiki/Cone_dystrophy, url:http\://rarediseases.org/rare-disease-information/rare-diseases/byID/847/viewAbstract, url:http\://www.ncbi.nlm.nih.gov/books/NBK1418/]
Disease area statistics
Chromosome band
| Gene symbol | Chromosome | Start | Stop | The number of variant |
|---|---|---|---|---|
| RP1L1 | 8 | 10,606,349 | 10,655,143 | 4 |
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT02435940 | Recruiting | Inherited Retinal Degenerative Disease Registry | June 2014 | June 2037 | |
| NCT03990727 | Recruiting | Phenotype Correlates Genotype of Inherited Retina Dystrophies, Retinitis Pigmentosa, Con>Rod Dystrophies. | August 2009 | September 30, 2025 | |
| NCT04658251 | Recruiting | Study of New Mutations in Cone Disorders | March 3, 2021 | March 2026 | |
| NCT05355415 | Recruiting | Adaptive Optics Imaging of Outer Retinal Diseases | August 27, 2021 | April 25, 2024 |
- Disase is a (Disease Ontology)
- DOID:5679
- Cross Reference ID (Disease Ontology)
- GARD:11897
- Cross Reference ID (Disease Ontology)
- MESH:D000077765
- Exact Synonym (Disease Ontology)
- retinal cone dystrophy