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

Lynn M Schriml1, Elvira Mitraka2, James Munro1

  • 1University of Maryland School of Medicine, Institute for Genome Sciences, Baltimore, MD, USA.

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Summary

The Human Disease Ontology (DO) has expanded significantly, adding new disease terms and classifications to improve understanding of complex human diseases. This enhances data sharing across biomedical resources and supports research into disease origins.

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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.