Details of Disease
General Information of Disease (ID: DISDTL6C)
| Disease Name | BEST1-related vitreoretinochoroidopathy | ||||
|---|---|---|---|---|---|
| Synonyms | BEST1-related vitreoretinochoroidopathy; ADVRIC | ||||
| Definition |
Any vitreoretinochoroidopathy caused by a heterozygous variant in the BEST1 gene.|This term captures the disease spectrum. At the time of creation (January 2024), this term is the ontological parent to only one term, but other clinical disease terms could be added in the future. If no additional ontological children are discovered, it is possible that this term might be merged with its single child. (https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/)
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