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. 2022 Jan 7;50(D1):D1255-D1261.
doi: 10.1093/nar/gkab1063.

The Human Disease Ontology 2022 update

Lynn M Schriml  1 , James B Munro  1 , Mike Schor  1 , Dustin Olley  1 , Carrie McCracken  1 , Victor Felix  1 , J Allen Baron  1 , Rebecca Jackson  2 , Susan M Bello  3 , Cynthia Bearer  4 , Richard Lichenstein  5 , Katharine Bisordi  5 , Nicole Campion Dialo  6 , Michelle Giglio  1 , Carol Greene  5
Affiliations

The Human Disease Ontology 2022 update

Lynn M Schriml et al. Nucleic Acids Res. .

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.

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Figures

Graphical Abstract
Graphical Abstract
The Human Disease Ontology (DO) integrates disease features and etiological factors to describe disease complexity. The DO is extensively cited and integrated into highly cited databases.
Figure 1.
Figure 1.
DO imports for defining environmental drivers and complex genetic disease etiology. The DO’s doid.owl tree integrates terms from 15 other biomedical ontologies to define features and etiology of human diseases (,,,,,, GENO: http://obofoundry.org/ontology/geno, NCBITaxon ontology: http://www.obofoundry.org/ontology/ncbitaxon.html; the Symptom, Pathogen Transmission, & Disease Drivers Ontologies are part of the DO project). Axioms are defined by pairing an ontology relation term and one or more ontology terms, such as ‘transmitted by’ some (‘droplet spread transmission’ or ‘airborne transmission’) for COVID-19.
Figure 2.
Figure 2.
The DO website. Providing educational resources, multifaceted querying of OBO and OWL trees.
See this image and copyright information in PMC

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