The Human Disease Ontology 2022 update

Author:

Schriml Lynn M1ORCID,Munro James B1,Schor Mike1,Olley Dustin1ORCID,McCracken Carrie1,Felix Victor1,Baron J Allen1,Jackson Rebecca2ORCID,Bello Susan M3ORCID,Bearer Cynthia4,Lichenstein Richard5,Bisordi Katharine5,Dialo Nicole Campion6,Giglio Michelle1ORCID,Greene Carol5

Affiliation:

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

2. Bend Informatics LLC, Bend, OR, USA

3. Mouse Genome Informatics, The Jackson Laboratory, Bar Harbor, ME, USA

4. Case Western Reserve University, Cleveland, OH, USA

5. University of Maryland School of Medicine, Baltimore, MD, USA

6. Internal Medicine Resident, PGY-1, Johns Hopkins Bayview Medical Center, USA

Abstract

Abstract The Human Disease Ontology (DO) (www.disease-ontology.org) database, has significantly expanded the disease content and enhanced our userbase and website since the DO’s 2018 Nucleic Acids Research DATABASE issue paper. Conservatively, based on available resource statistics, terms from the DO have been annotated to over 1.5 million biomedical data elements and citations, a 10× increase in the past 5 years. The DO, funded as a NHGRI Genomic Resource, plays a key role in disease knowledge organization, representation, and standardization, serving as a reference framework for multiscale biomedical data integration and analysis across thousands of clinical, biomedical and computational research projects and genomic resources around the world. This update reports on the addition of 1,793 new disease terms, a 14% increase of textual definitions and the integration of 22 137 new SubClassOf axioms defining disease to disease connections representing the DO’s complex disease classification. The DO’s updated website provides multifaceted etiology searching, enhanced documentation and educational resources.

Funder

National Institutes of Health

National Human Genome Research Institute

Publisher

Oxford University Press (OUP)

Subject

Genetics

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