Human Disease Ontology 2018 update: classification, content and workflow expansion.

Area of Science:

• Biomedical Informatics
• Ontology Development
• Human Genetics

Background:

• The Human Disease Ontology (DO) is a crucial resource for standardizing disease information.
• Previous versions of the DO have provided a foundational classification of human diseases.

Purpose of the Study:

• To detail the significant expansions and updates to the Human Disease Ontology (DO) since 2015.
• To highlight improvements in disease classification, knowledge integration, and user accessibility.

Main Methods:

• Incorporation of formal semantic rules for disease modeling.
• Expansion of disease terms, anatomical classifications, cell types, and genetic disease categories.
• Workflow automation and integration of new knowledge through regular releases/revisions.

Main Results:

• Addition of 2650 new disease terms, a 30% increase in textual definitions.
• Development of multiple inferred mechanistic disease classifications alongside asserted classifications.
• Significant growth in the DO's user community (6.6x since 2015) and increased utility across biomedical databases and tools.

Conclusions:

• The expanded DO provides novel perspectives on related diseases and the multi-etiology of human disease.
• Enhanced data capture and communication across biomedical resources are facilitated by the updated DO.
• The DO's continued development through logical axioms and community growth solidifies its role in biomedical research.