Disease Ontology 2015 update: an expanded and updated database of human diseases for linking biomedical knowledge through disease data.

Journal Article (Journal Article)

The current version of the Human Disease Ontology (DO) (http://www.disease-ontology.org) database expands the utility of the ontology for the examination and comparison of genetic variation, phenotype, protein, drug and epitope data through the lens of human disease. DO is a biomedical resource of standardized common and rare disease concepts with stable identifiers organized by disease etiology. The content of DO has had 192 revisions since 2012, including the addition of 760 terms. Thirty-two percent of all terms now include definitions. DO has expanded the number and diversity of research communities and community members by 50+ during the past two years. These community members actively submit term requests, coordinate biomedical resource disease representation and provide expert curation guidance. Since the DO 2012 NAR paper, there have been hundreds of term requests and a steady increase in the number of DO listserv members, twitter followers and DO website usage. DO is moving to a multi-editor model utilizing Protégé to curate DO in web ontology language. This will enable closer collaboration with the Human Phenotype Ontology, EBI's Ontology Working Group, Mouse Genome Informatics and the Monarch Initiative among others, and enhance DO's current asserted view and multiple inferred views through reasoning.

Full Text

Duke Authors

Cited Authors

  • Kibbe, WA; Arze, C; Felix, V; Mitraka, E; Bolton, E; Fu, G; Mungall, CJ; Binder, JX; Malone, J; Vasant, D; Parkinson, H; Schriml, LM

Published Date

  • January 2015

Published In

Volume / Issue

  • 43 / Database issue

Start / End Page

  • D1071 - D1078

PubMed ID

  • 25348409

Pubmed Central ID

  • PMC4383880

Electronic International Standard Serial Number (EISSN)

  • 1362-4962

Digital Object Identifier (DOI)

  • 10.1093/nar/gku1011


  • eng

Conference Location

  • England