Human Disease Ontology (DOID)
Private
Human Disease Ontology (DOID): human disease classes, such as disease of anatomical entity, cancer, asthma and tuberculosis.
Use Cases
Disease Annotation
HealthcareResearchers annotate genes, alleles and disease models with Disease Ontology classes.
Disease Classification
HealthcareData scientists group records by disease classes, such as disease by infectious agent.
Agent Grounding
Tech / ITAI agents check exact disease names, such as Alzheimer's disease, before they tag text or answer questions.
Overview
The Human Disease Ontology is a standard ontology for human disease. It gives consistent and reusable descriptions of human disease terms, phenotype characteristics and related medical vocabulary. Classes in this entry include disease, disease of anatomical entity, disease by infectious agent, genetic disease, cancer, asthma, influenza and tuberculosis. The entity count is the number of classes that the Disease Ontology itself defines in EBI OLS. It does not count imported classes. Researchers and data scientists can use this entry to find exact disease names before they annotate genes, models or records.
Top entities
disease, disease of anatomical entity, disease by infectious agent, genetic disease, cancer, asthma, diabetes mellitus, Alzheimer's disease, cystic fibrosis, influenza, tuberculosis, lung cancer
Mappings
- OBO Foundry identifiers (DOID:): direct. Each class has an OBO ID, such as DOID:2841 for asthma.
For agents
Look up disease names in this entry, then read each class's definition and cross-references in EBI OLS. Use the exact labels, including the apostrophe in Alzheimer's disease. Sample prompt: "Using the Human Disease Ontology (DOID) entry in the Schematica Library, which classes sit under disease by infectious agent?" Read via MCP: get_project_summary with graphProjectId a7fd797ccf9c4c8aafa438ffd684b04f.
Provenance
Publisher: Institute for Genome Sciences, University of Maryland. License: CC0-1.0 (https://github.com/DiseaseOntology/HumanDiseaseOntology/blob/main/LICENSE). Version: 2026-09-30. Format: owl, obo. Described by the Schema Librarian on 2026-10-23; auto-cataloged.
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