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. 2015 Oct;26(9-10):584-9.
doi: 10.1007/s00335-015-9576-9. Epub 2015 Jun 21.

The Disease Ontology: fostering interoperability between biological and clinical human disease-related data

Lynn M Schriml  1 , Elvira Mitraka  2
Affiliations

The Disease Ontology: fostering interoperability between biological and clinical human disease-related data

Lynn M Schriml et al. Mamm Genome. 2015 Oct.

Abstract

The Disease Ontology (DO) enables cross-domain data integration through a common standard of human disease terms and their etiological descriptions. Standardized disease descriptors that are integrated across mammalian genomic resources provide a human-readable, machine-interpretable, community-driven disease corpus that unifies the representation of human common and rare diseases. The DO is populated by consensus-driven disease data descriptors that incorporate disease terms utilized by genomic and genetic projects and resources engaged in studies to understand the genetics of human disease through the study of model organisms. The DO project serves multiple roles for the model organism community by providing: (1) a structured "backbone" of disease concepts represented among the model organism databases; (2) authoritative disease curation services to researchers and resource providers; and (3) development of subsets of the DO representative of human diseases annotated to animal models curated within the model organism databases.

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Figures

Fig. 1
Fig. 1
The disease ontology website. A query for all DO terms included in the DO_MGI_slim is displayed
See this image and copyright information in PMC

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