{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T17:49:31Z","timestamp":1777830571063,"version":"3.51.4"},"reference-count":37,"publisher":"Oxford University Press (OUP)","issue":"D1","license":[{"start":{"date-parts":[[2021,11,10]],"date-time":"2021-11-10T00:00:00Z","timestamp":1636502400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","award":["U41 HG008735-01A1"],"award-info":[{"award-number":["U41 HG008735-01A1"]}],"id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,1,7]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>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\u2019s 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\u00d7\u00a0increase 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\u2019s complex disease classification. The DO\u2019s updated website provides multifaceted etiology searching, enhanced documentation and educational resources.<\/jats:p>","DOI":"10.1093\/nar\/gkab1063","type":"journal-article","created":{"date-parts":[[2021,10,19]],"date-time":"2021-10-19T13:48:11Z","timestamp":1634651291000},"page":"D1255-D1261","source":"Crossref","is-referenced-by-count":275,"title":["The Human Disease Ontology 2022 update"],"prefix":"10.1093","volume":"50","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8910-9851","authenticated-orcid":false,"given":"Lynn M","family":"Schriml","sequence":"first","affiliation":[{"name":"University of Maryland School of Medicine, Institute for Genome Sciences, Baltimore, MD, USA"}]},{"given":"James B","family":"Munro","sequence":"additional","affiliation":[{"name":"University of Maryland School of Medicine, Institute for Genome Sciences, Baltimore, MD, USA"}]},{"given":"Mike","family":"Schor","sequence":"additional","affiliation":[{"name":"University of Maryland School of Medicine, Institute for Genome Sciences, Baltimore, MD, USA"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8685-0839","authenticated-orcid":false,"given":"Dustin","family":"Olley","sequence":"additional","affiliation":[{"name":"University of Maryland School of Medicine, Institute for Genome Sciences, Baltimore, MD, USA"}]},{"given":"Carrie","family":"McCracken","sequence":"additional","affiliation":[{"name":"University of Maryland School of Medicine, Institute for Genome Sciences, Baltimore, MD, USA"}]},{"given":"Victor","family":"Felix","sequence":"additional","affiliation":[{"name":"University of Maryland School of Medicine, Institute for Genome Sciences, Baltimore, MD, USA"}]},{"given":"J\u00a0Allen","family":"Baron","sequence":"additional","affiliation":[{"name":"University of Maryland School of Medicine, Institute for Genome Sciences, Baltimore, MD, USA"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4871-5569","authenticated-orcid":false,"given":"Rebecca","family":"Jackson","sequence":"additional","affiliation":[{"name":"Bend Informatics LLC, Bend, OR, USA"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4606-0597","authenticated-orcid":false,"given":"Susan\u00a0M","family":"Bello","sequence":"additional","affiliation":[{"name":"Mouse Genome Informatics, The Jackson Laboratory, Bar Harbor, ME, USA"}]},{"given":"Cynthia","family":"Bearer","sequence":"additional","affiliation":[{"name":"Case Western Reserve University, Cleveland, OH, USA"}]},{"given":"Richard","family":"Lichenstein","sequence":"additional","affiliation":[{"name":"University of Maryland School of Medicine, Baltimore, MD, USA"}]},{"given":"Katharine","family":"Bisordi","sequence":"additional","affiliation":[{"name":"University of Maryland School of Medicine, Baltimore, MD, USA"}]},{"given":"Nicole Campion","family":"Dialo","sequence":"additional","affiliation":[{"name":"Internal Medicine Resident, PGY-1, Johns Hopkins Bayview Medical Center, USA"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7628-5565","authenticated-orcid":false,"given":"Michelle","family":"Giglio","sequence":"additional","affiliation":[{"name":"University of Maryland School of Medicine, Institute for Genome Sciences, Baltimore, MD, USA"}]},{"given":"Carol","family":"Greene","sequence":"additional","affiliation":[{"name":"University of Maryland School of Medicine, Baltimore, MD, USA"}]}],"member":"286","published-online":{"date-parts":[[2021,11,10]]},"reference":[{"key":"2022010507365574800_B1","doi-asserted-by":"crossref","first-page":"160018","DOI":"10.1038\/sdata.2016.18","article-title":"The FAIR Guiding Principles for scientific data management and stewardship","volume":"3","author":"Wilkinson","year":"2016","journal-title":"Sci. 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