Disease Ontology: a backbone for disease semantic integration

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ID: 300624
2011
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Abstract
The Disease Ontology (DO) database (http://disease-ontology.org) represents a comprehensive knowledge base of 8043 inherited, developmental and acquired human diseases (DO version 3, revision 2510). The DO web browser has been designed for speed, efficiency and robustness through the use of a graph database. Full-text contextual searching functionality using Lucene allows the querying of name, synonym, definition, DOID and cross-reference (xrefs) with complex Boolean search strings. The DO semantically integrates disease and medical vocabularies through extensive cross mapping and integration of MeSH, ICD, NCI's thesaurus, SNOMED CT and OMIM disease-specific terms and identifiers. The DO is utilized for disease annotation by major biomedical databases (e.g. Array Express, NIF, IEDB), as a standard representation of human disease in biomedical ontologies (e.g. IDO, Cell line ontology, NIFSTD ontology, Experimental Factor Ontology, Influenza Ontology), and as an ontological cross mappings resource between DO, MeSH and OMIM (e.g. GeneWiki). The DO project (http://diseaseontology.sf.net) has been incorporated into open source tools (e.g. Gene Answers, FunDO) to connect gene and disease biomedical data through the lens of human disease. The next iteration of the DO web browser will integrate DO's extended relations and logical definition representation along with these biomedical resource cross-mappings.
Reference Key
openalex_W2159092541 Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors Lynn M. Schriml, Cesar Arze, Suvarna Nadendla, Y.-W. W. Chang, Mark J. Mazaitis, Victor Felix, Gang Feng, Warren A. Kibbe
Journal Nucleic Acids Research
Year 2011
DOI
10.1093/nar/gkr972
URL
https://doi.org/10.1093/nar/gkr972
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