General Information of Disease (ID: DISFCJHY)

Disease Name PDE6A-related retinopathy
Synonyms PDE6A-related retinopathy
Definition
Any retinopathy caused by variants in the PDE6A 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
DISGGL77: Inherited retinal dystrophy
DISFCJHY: PDE6A-related retinopathy