Titre
An ontological foundation for ocular phenotypes and rare eye diseases.
Type
article
Institution
UNIL/CHUV/Unisanté + institutions partenaires
Périodique
Auteur(s)
Sergouniotis, P.I.
Auteure/Auteur
Maxime, E.
Auteure/Auteur
Leroux, D.
Auteure/Auteur
Olry, A.
Auteure/Auteur
Thompson, R.
Auteure/Auteur
Rath, A.
Auteure/Auteur
Robinson, P.N.
Auteure/Auteur
Dollfus, H.
Auteure/Auteur
Contributrices/contributeurs
Ashworth, J.L.
Audo, I.
Balciuniene, V.J.
Banin, E.
Black, G.C.
Böhringer, D.
Boon, CJF
Bremond-Gignac, D.
Calvas, P.
Castela, G.
Dagnelie, G.
Dollfus, H.
Downes, S.M.
Fasolo, A.
Fasser, C.
Gelzinis, A.
Goetz, K.
Hamann, S.
Héon, E.
Iarossi, G.
Kawasaki, A.
Keegan, D.
Kessel, L.
Khan, K.
Klett, A.
Köhler, S.
Leroux, D.
Leroy, B.P.
Lisch, W.
Liskova, P.
Lorenz, B.
Maggi, R.
Maxime, E.
Meunier, I.
Mohand-Said, S.
Nowomiejska, K.
Perdomo, Y.
Petzold, A.
Preising, M.
Robinson, P.N.
Scholl, HPN
Sergouniotis, P.I.
Sodi, A.
Stingl, K.
Studer, F.
Suppiej, A.
Thompson, R.
Touitou, V.
Traboulsi, E.
Trumpaitis, J.
Tuft, S.J.
Vaclavik, V.
Valeina, S.
Van Cauwenbergh, C.
Verloes, A.
Vighetto, A.
Wheeler, R.
Wheeler-Schilling, T.
Yu-Wai-Man, P.
Zobor, D.
Zrenner, E.
Groupes de travail
ERN-EYE Ontology Study Group
Liens vers les personnes
Liens vers les unités
ISSN
1750-1172
Statut éditorial
Publié
Date de publication
2019-01-09
Volume
14
Numéro
1
Première page
8
Peer-reviewed
Oui
Langue
anglais
Notes
Publication types: Letter ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
Publication Status: epublish
Publication Status: epublish
Résumé
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-established biomedical ontologies, the Human Phenotype Ontology (HPO; includes signs, symptoms and investigation findings) and the Orphanet Rare Disease Ontology (ORDO; includes rare disease nomenclature/nosology).
A variety of approaches were used including automated matching to existing resources and extensive manual curation. To achieve the latter, a study group including clinicians, patient representatives and ontology developers from 17 countries was formed. A broad range of terms was discussed and validated during a dedicated workshop attended by 60 members of the group.
A comprehensive, structured and well-defined set of terms has been agreed on including 1106 terms relating to ocular phenotypes (HPO) and 1202 terms relating to rare eye disease nomenclature (ORDO). These terms and their relevant annotations can be accessed in http://www.human-phenotype-ontology.org/ and http://www.orpha.net/ ; comments, corrections, suggestions and requests for new terms can be made through these websites. This is an ongoing, community-driven endeavour and both HPO and ORDO are regularly updated.
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.
A variety of approaches were used including automated matching to existing resources and extensive manual curation. To achieve the latter, a study group including clinicians, patient representatives and ontology developers from 17 countries was formed. A broad range of terms was discussed and validated during a dedicated workshop attended by 60 members of the group.
A comprehensive, structured and well-defined set of terms has been agreed on including 1106 terms relating to ocular phenotypes (HPO) and 1202 terms relating to rare eye disease nomenclature (ORDO). These terms and their relevant annotations can be accessed in http://www.human-phenotype-ontology.org/ and http://www.orpha.net/ ; comments, corrections, suggestions and requests for new terms can be made through these websites. This is an ongoing, community-driven endeavour and both HPO and ORDO are regularly updated.
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.
PID Serval
serval:BIB_CBB1C2FB3900
PMID
Open Access
Oui
Date de création
2024-03-20T07:32:01.412Z
Date de création dans IRIS
2025-05-20T23:54:04Z
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