ArticleMammalian genome : official journal of the International Mammalian Genome Society2015
The Disease Ontology: fostering interoperability between biological and clinical human disease-related data.
Article in Mammalian genome : official journal of the International Mammalian Genome Society, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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Who cites it
29 citing papers in PubMed.
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- Benchmarking Transformer Embedding Models for Biomedical Terminology Standardization.Machine learning with applications · 2025Article
- The Leipzig Health Atlas-An Open Platform to Present, Archive, and Share Biomedical Data, Analyses, and Models Online.Methods of information in medicine · 2022Article
- Federated analysis of BRCA1 and BRCA2 variation in a Japanese cohort.Cell genomics · 2022Article
- A Hybrid Protocol for Finding Novel Gene Targets for Various Diseases Using Microarray Expression Data Analysis and Text Mining.Methods in molecular biology (Clifton, N.J.) · 2022Article
- RNA-sequencing and bioinformatics analysis of long noncoding RNAs and mRNAs in the asthenozoospermia.Bioscience reports · 2020Observational
- Cisplatin-resistant triple-negative breast cancer subtypes: multiple mechanisms of resistance.BMC cancer · 2019Article
- Integrating ontologies of human diseases, phenotypes, and radiological diagnosis.Journal of the American Medical Informatics Association : JAMIA · 2019Article
- The anatomy of phenotype ontologies: principles, properties and applications.Briefings in bioinformatics · 2018Article
- Identifying diseases-related metabolites using random walk.BMC bioinformatics · 2018Article
- Disease Ontology: improving and unifying disease annotations across species.Disease models & mechanisms · 2018Article
- DMTO: a realistic ontology for standard diabetes mellitus treatment.Journal of biomedical semantics · 2018Article
- DISNOR: a disease network open resource.Nucleic acids research · 2018Article
- WormBase 2017: molting into a new stage.Nucleic acids research · 2018Article
- Mouse Genome Database (MGD)-2018: knowledgebase for the laboratory mouse.Nucleic acids research · 2018Article
- Using ZFIN: Data Types, Organization, and Retrieval.Methods in molecular biology (Clifton, N.J.) · 2018Article
- Mouse Genome Informatics (MGI) Resource: Genetic, Genomic, and Biological Knowledgebase for the Laboratory Mouse.ILAR journal · 2017Review
- Article
- The Zebrafish Model Organism Database: new support for human disease models, mutation details, gene expression phenotypes and searching.Nucleic acids research · 2017Article
- An information model for computable cancer phenotypes.BMC medical informatics and decision making · 2016Article
Corrections and comments
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Authors and funding
2 authors.
Funding
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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