Description: Human Disease Ontology (DO) Project release files. The DO project actively collaborates with biomedical and clinical researchers and data repositories to coordinate a standardized classification of human disease. The DO's GitHub repository includes the monthly releases (https://tinyurl.com/DiseaseOntologyReleases), of OWL, OBO, JSON and XML formatted files along with DO subsets (ontology slims) for the Alliance of Genome Resouces, FlyBase, Mouse Genome Informatics Database, the Immune Epitope Database, DO_Cancer_slim (for cancer variant resources), and zoonotic infectious diseases.The DO SPARQL GitHub directory provides a suite (https://tinyurl.com/DiseaseOntologySrcSparql) of data reporting and QC queries for the community to explore DO's data. File formats include OWL, OBO, JSON, and XML. User requests for disease term review or inclusion of new disease terms may be submitted via the DO GitHub tracker: https://github.com/DiseaseOntology/HumanDiseaseOntology/issues.
Timeframe: 2003 -

Subject Domain

Keywords

Grant Support: U41 HG008735-01A1/National Human Genome Research Institute

2U41 HG000330-28/National Human Genome Research Institute
Other Resources: Disease Ontology Website
The Human Disease Ontology (DO) knowledgebase is an international database resource dedicated to providing accurate and current mechanistic genetic, environmental and infectious disease data to facilitate FAIR biomedical data sharing and support incorporation of new human disease knowledge across genetic and genomic information resources. 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.

UMB Data Catalog

Human Disease Ontology Project
UMB Dataset