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An ontological foundation for ocular phenotypes and rare eye diseases
- Source :
- ERN-EYE Ontology Study Group 2019, ' An ontological foundation for ocular phenotypes and rare eye diseases ', Orphanet Journal of Rare Diseases, vol. 14, no. 1, pp. 8 . https://doi.org/10.1186/s13023-018-0980-6, Orphanet Journal of Rare Diseases, Orphanet Journal of Rare Diseases, 14, Orphanet Journal of Rare Diseases, 2019, 14 (8), pp.1-5. ⟨10.1186/s13023-018-0980-6⟩, Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-5 (2019), Sergouniotis, P I, Maxime, E, Leroux, D, Olry, A, Thompson, R, Rath, A, Robinson, P N, Dollfus, H, ERN-EYE Ontology Study Group, Ashworth, J L, Audo, I, Balciuniene, V J, Hamann, S, Kessel, L, Yu-Wai-Man, P, Zobor, D & Zrenner, E 2019, ' An ontological foundation for ocular phenotypes and rare eye diseases ', Orphanet Journal of Rare Diseases, vol. 14, 8 . https://doi.org/10.1186/s13023-018-0980-6
- Publication Year :
- 2019
-
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-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). Methods 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. Results 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. Conclusions 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. Electronic supplementary material The online version of this article (10.1186/s13023-018-0980-6) contains supplementary material, which is available to authorized users.
- Subjects :
- 0301 basic medicine
Eye Diseases
Computer science
Evidence-based precision medicine, Rare eye disease, Human phenotype ontology, Orphanet rare disease ontology
lcsh:Medicine
[SDV.BC]Life Sciences [q-bio]/Cellular Biology
030105 genetics & heredity
Ontology (information science)
Terminology
NO
Open Biomedical Ontologies
MESH: Eye Diseases / classificationHumans Precision Medicine / methods* Rare Diseases / classification
03 medical and health sciences
0302 clinical medicine
Rare Diseases
Human Phenotype Ontology
Eye Diseases/classification
Humans
Pharmacology (medical)
Precision Medicine
Letter to the Editor
MESH: Humans Precision Medicine / methods
Genetics (clinical)
Information exchange
Evidence-Based Medicine
Orphanet rare disease ontology
Rare Diseases/classification
MESH: Computational Biology / methods
lcsh:R
Computational Biology
Human phenotype ontology
Biological Ontologies
Precision Medicine/methods
General Medicine
Evidence-based medicine
Rare eye disease
Computational Biology/methods
Data science
MESH: Rare Diseases / classification
3. Good health
[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics
Evidence-based precision medicine
Eye disorder
MESH: Biological Ontologies
MESH: Evidence-Based Medicine
030217 neurology & neurosurgery
Subjects
Details
- Language :
- English
- ISSN :
- 17501172
- Database :
- OpenAIRE
- Journal :
- ERN-EYE Ontology Study Group 2019, ' An ontological foundation for ocular phenotypes and rare eye diseases ', Orphanet Journal of Rare Diseases, vol. 14, no. 1, pp. 8 . https://doi.org/10.1186/s13023-018-0980-6, Orphanet Journal of Rare Diseases, Orphanet Journal of Rare Diseases, 14, Orphanet Journal of Rare Diseases, 2019, 14 (8), pp.1-5. ⟨10.1186/s13023-018-0980-6⟩, Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-5 (2019), Sergouniotis, P I, Maxime, E, Leroux, D, Olry, A, Thompson, R, Rath, A, Robinson, P N, Dollfus, H, ERN-EYE Ontology Study Group, Ashworth, J L, Audo, I, Balciuniene, V J, Hamann, S, Kessel, L, Yu-Wai-Man, P, Zobor, D & Zrenner, E 2019, ' An ontological foundation for ocular phenotypes and rare eye diseases ', Orphanet Journal of Rare Diseases, vol. 14, 8 . https://doi.org/10.1186/s13023-018-0980-6
- Accession number :
- edsair.doi.dedup.....840fa6905fa94a0e7ca88a0762068559
- Full Text :
- https://doi.org/10.1186/s13023-018-0980-6