An ontological foundation for ocular phenotypes and rare eye diseases

Sergouniotis, P.I.; Maxime, E.; Leroux, D.; Olry, A.; Thompson, R.; Rath, A.; ... ; ERN-EYE Ontology Study Grp (2019)

Article / Letter to editor

• Evidence-based precision medicine
• Rare eye disease
• Human phenotype ontology
• Orphanet rare disease ontology

• All authors: Sergouniotis, P.I.; Maxime, E.; Leroux, D.; Olry, A.; Thompson, R.; Rath, A.; Robinson, P.N.; Dollfus, H.; Ashworth, J.L.; Audo, I.; Balciuniene, V.J.; Banin, E.; Black, G.C.; Bohringer, D.; Boon, C.J.F.; Bremond-Gignac, D.; Calvas, P.; Castela, G.; Dagnelie, G.; Downes, S.M.; Fasolo, A.; Fasser, C.; Gelzinis, A.; Goetz, K.; Hamann, S.; Heon, E.; Iarossi, G.; Kawasaki, A.; Keegan, D.; Kessel, L.; Khan, K.; Klett, A.; Kohler, S.; Leroy, B.P.; Lisch, W.; Liskova, P.; Lorenz, B.; Maggi, R.; Meunier, I.; Mohand-Said, S.; Nowomiejska, K.; Perdomo, Y.; Petzold, A.; Preising, M.; Scholl, H.P.N.; Sodi, A.; Stingl, K.; Studer, F.; Suppiej, A.; Touitou, V.; Traboulsi, E.; Trumpaitis, J.; Tuft, S.J.; Vaclavik, V.; Valeina, S.; Cauwenbergh, C. van; Verloes, A.; Vighetto, A.; Wheeler, R.; Wheeler-Schilling, T.; Yu-Wai-Man, P.; Zobor, D.; Zrenner, E.; ERN-EYE Ontology Study Grp
• Date: 2019-01-09
• Journal: Orphanet Journal of Rare Diseases
• Volume: 14
• DOI: doi:10.1186/s13023-018-0980-6