An ontological foundation for ocular phenotypes and rare eye diseases.

ABSTRACT:

Background

The optical accessibility of the eye and technological advances in ophthalmic diagnostics have put ophthalmology at the forefront of data-driven medicine. The focus of this study is rare eye disorders, a group of conditions whose clinical heterogeneity and geographic dispersion make data-driven, evidence-based practice particularly challenging. Inter-institutional collaboration and information sharing is crucial but the lack of standardised terminology poses an important barrier. Ontologies are computational tools that include sets of vocabulary terms arranged in hierarchical structures. They can be used to provide robust terminology standards and to enhance data interoperability. Here, we discuss the development of the ophthalmology-related component of two well-establi

SUBMITTER: Sergouniotis PI 

PROVIDER: S-EPMC6327432 | biostudies-literature | 2019 Jan

REPOSITORIES: biostudies-literature