General Information of Disease (ID: DISZAT33)

Disease Name TSPAN12-related exudative vitreoretinopathy
Synonyms TSPAN12-related exudative vitreoretinopathy
Definition
Any exudative vitreoretinopathy caused by variants in the TSPAN12 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/)
Disease Hierarchy
DISIS7NH: TSPAN12-related vitreoretinopathy
DISWN0TG: Exudative vitreoretinopathy
DISZAT33: TSPAN12-related exudative vitreoretinopathy