An ontological foundation for ocular phenotypes and rare eye diseases

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 m...

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Bibliographic Details
Main Authors: Panagiotis I. Sergouniotis, Emmanuel Maxime, Dorothée Leroux, Annie Olry, Rachel Thompson, Ana Rath, Peter N. Robinson, Hélène Dollfus, for the ERN-EYE Ontology Study Group
Format: Article
Language:English
Published: BMC 2019-01-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Evidence-based precision medicine
Rare eye disease
Human phenotype ontology
Orphanet rare disease ontology
Online Access:http://link.springer.com/article/10.1186/s13023-018-0980-6

Internet

http://link.springer.com/article/10.1186/s13023-018-0980-6

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