DOID

DOID refers to the Disease Ontology Identifier, a system used to catalog human disease concepts within the Disease Ontology (DO). The DO is a structured, controlled vocabulary designed to support consistent annotation, retrieval, and integration of disease-related information across diverse biomedical datasets. Each disease concept in the DO is assigned a unique DOID (for example, DOID:XXXXXX), enabling researchers to link genes, phenotypes, clinical data, and literature through a common reference.

The ontology provides definitions, synonyms, and hierarchical relationships that organize diseases into a directed acyclic graph. Primary relationships typically include is_a, which places diseases within broader categories, and other linkage types that connect diseases to parts, symptoms, or related conditions. DO terms are cross-referenced to other biomedical vocabularies and resources, such as ICD, MeSH, OMIM, and UMLS, facilitating interoperability between databases and studies.

DOID terms are used to annotate and integrate data across platforms, including genomic, clinical, and phenotypic datasets. They support advanced queries, comparative analyses, and semantic search, enabling researchers to perform cross-database analyses with consistent disease concepts. The Disease Ontology is actively maintained by a community of curators and researchers and is aligned with the principles of the Open Biomedical Ontologies (OBO) Foundry, emphasizing interoperability, clarity, and broad utility.

Access to DOID terms is provided through the DO website and related repositories, with formats such as OWL and OBO available for download and integration into data pipelines.