An ontological foundation for ocular phenotypes and rare eye diseases.
Panagiotis I SergouniotisEmmanuel MaximeDorothée LerouxAnnie OlryRachel ThompsonAna RathPeter N RobinsonHélène Dollfusnull nullPublished in: Orphanet journal of rare diseases (2019)
To our knowledge, this is the first effort of such scale to provide terminology standards for the rare eye disease community. We hope that this work will not only improve coding and standardise information exchange in clinical care and research, but also it will catalyse the transition to an evidence-based precision ophthalmology paradigm.