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