The Human Disease Ontology 2022 update

Area of Science:

• Biomedical Informatics
• Ontology Development
• Genomic Medicine

Background:

• The Human Disease Ontology (DO) has grown substantially since its 2018 publication.
• It serves as a critical resource for disease knowledge organization and standardization.
• The DO is funded by the National Human Genome Research Institute (NHGRI) as a Genomic Resource.

Purpose of the Study:

• To report on the recent expansion of the Human Disease Ontology.
• To highlight enhancements in disease content, definitions, and classification.
• To showcase improvements to the DO website and user resources.

Main Methods:

• Addition of 1,793 new disease terms.
• Incorporation of 22,137 new SubClassOf axioms for disease relationships.
• Enhancement of textual definitions for existing terms.

Main Results:

• DO terms are now annotated to over 1.5 million biomedical data elements and citations, a tenfold increase in five years.
• A 14% increase in textual definitions has been implemented.
• The DO's classification system has been expanded with new disease-to-disease connections.

Conclusions:

• The Human Disease Ontology is a vital, expanding resource for organizing and standardizing disease information.
• The updated DO facilitates multiscale biomedical data integration and analysis.
• Enhanced website features support research through multifaceted etiology searching and improved documentation.