ERN-EYE ontology & classification revision
date: 05/12/2019
In early 2019, ERN-EYE published in Orphanet Journal of Rare Diseases (Open Access) an article entitled "An ontological foundation for ocular phenotypes and rare eye diseases". This article describes the deep revision of the Orphanet classification. ERN-EYE also developed RED (Rare eye diseases) ontology thanks to a large completion of Human Phenotype Ontology (HPO) terms related to RED. All this work led to an agreement on 1390 terms related to RED on the Orphanet Rare Diseases Ontology, including 1089 terms related to ocular phenotypes in HPO.