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Disease Ontology: Improvements for Clinical Care and Research Applications

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Human Disease Ontology, www.disease-ontology.org
Standardized descriptions of human disease that improve capture and communication of health-related data across biomedical resources.

Published in: Science
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Disease Ontology: Improvements for Clinical Care and Research Applications

  1. 1. Disease Ontology: Improvements for Clinical Care and Research Applications Linda Jeng, M.D., Ph.D., Carol Greene, M.D., Michelle Giglio, Ph.D., Lynn Schriml, Ph.D. ABSTRACT The Human Disease Ontology (DO) provides standardized descriptions of human disease through a controlled vocabulary of terms that improve capture and communication of health-related data across multiple resources. As knowledge grows on how interactions between genetic and environmental factors lead to human disease, there is a need to incorporate genetic and environmental information into the DO. In addition, the DO is being expanded to associate diseases with organ systems. These efforts are made more challenging by the pleiotropy of genetic diseases and the multi-organ impact of environmental conditions. To this end, we are beginning work in this area with the following specific cases: 1) Prader-Willi syndrome, which can be a chromosomal deletion, a methylation defect or a single gene disorder, 2) alpha 1-antitrypsin deficiency, which has variable expression and critical contributions from environmental factors, 3) chromosome 22q11.2 deletion syndrome, which has one etiology for multiple clinical diseases, but those diseases can also have other etiologies, and 4) cystic fibrosis, which involves multiple organ systems in a single disorder. This work will be facilitated through increased collaborations with clinicians. Accomplishment of DO enhancements for the above cases will enable the development of standard procedures to incorporate genetic and environmental components, and thus allow rapid expansion to other conditions. These enhancements will improve the utility of the Human Disease Ontology in clinical care. CONCLUSIONS These enhancements will: 1. Enable development of standard procedures to incorporate genetic and environmental components. 2. Allow rapid expansion to include other conditions. 3. Improve the utility of the Human Disease Ontology in clinical care. METHODS • Incorporate genetic and environmental information • Associate diseases with organ systems and cell types INITIAL CASE RESULTS • Prader-Willi syndrome www.disease-ontology.org BACKGROUND DO’s Past Role: Bridging knowledge between clinical vocabularies and biomedical research. disease genetic disease monogenic disease chromosomal disease epigenetic methylation post- translational syndrome Current Future CLINICAL TEAM GOALS • Develop alternative disease classification for complex genetic diseases • Incorporate multi-factorial genetic etiology information into the DO • Incorporate environmental triggers/risk factors into the DO • Develop a novel differential diagnosis disease ontology FUNDING NIH/NHGRI U41 HG008735-01A1 NIH/NIGMS R01 GM089820 NIH/NHGRI U41 BD2K Administrative Supplement, 2U41HG000330-28

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