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An ontological foundation for ocular phenotypes and rare eye diseases

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...

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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: Sergouniotis, Panagiotis I., Maxime, Emmanuel, Leroux, Dorothée, Olry, Annie, Thompson, Rachel, Rath, Ana, Robinson, Peter N., Dollfus, Hélène
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2019
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6327432/
https://ncbi.nlm.nih.gov/pubmed/30626441
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-018-0980-6
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