Document Type

Article

Publication Date

1-7-2022

Publication Title

Nucleic acids research

Keywords

JMG, Biological Ontologies, Databases, Factual, Databases, Genetic, Genetic Diseases, Inborn, Genomics, Humans

JAX Source

Nucleic Acids Res 2022 Jan 7; 50(D1):D1255-D1261

Volume

50

Issue

D1

First Page

1255

Last Page

1261

ISSN

1362-4962

PMID

34755882

DOI

https://doi.org/10.1093/nar/gkab1063

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.

Comments

This is an Open Access article distributed under the terms of the Creative Commons Attribution License.

Download

Share

COinS