||The Disease Ontology has been developed as a standardized ontology for human disease with the purpose of providing the biomedical community with consistent, reusable and sustainable descriptions of human disease terms, phenotype characteristics and related medical vocabulary disease concepts through collaborative efforts of researchers at Northwestern University, Center for Genetic Medicine and the University of Maryland School of Medicine, Institute for Genome Sciences.
The Disease Ontology semantically integrates disease and medical vocabularies through extensive cross mapping of DO terms to MeSH, ICD, NCI’s thesaurus, SNOMED and OMIM.
The gene-DO term association are obtained from DISEASES (S Pletscher-Frankild et al, 2015, doi:10.1016/j.ymeth.2014.11.020).
DISEASES is a system for extracting disease–gene associations from biomedical abstracts consisting of of a highly efficient dictionary-based tagger for named entity recognition of human genes and diseases. This was combine with a scoring scheme that takes into account co-occurrences both within and between sentences.