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2017 ; 8
(1
): 22
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Disease Compass- a navigation system for disease knowledge based on ontology and
linked data techniques
#MMPMID28629436
Kozaki K
; Yamagata Y
; Mizoguchi R
; Imai T
; Ohe K
J Biomed Semantics
2017[Jun]; 8
(1
): 22
PMID28629436
show ga
BACKGROUND: Medical ontologies are expected to contribute to the effective use of
medical information resources that store considerable amount of data. In this
study, we focused on disease ontology because the complicated mechanisms of
diseases are related to concepts across various medical domains. The authors
developed a River Flow Model (RFM) of diseases, which captures diseases as the
causal chains of abnormal states. It represents causes of diseases, disease
progression, and downstream consequences of diseases, which is compliant with the
intuition of medical experts. In this paper, we discuss a fact repository for
causal chains of disease based on the disease ontology. It could be a valuable
knowledge base for advanced medical information systems. METHODS: We developed
the fact repository for causal chains of diseases based on our disease ontology
and abnormality ontology. This section summarizes these two ontologies. It is
developed as linked data so that information scientists can access it using
SPARQL queries through an Resource Description Framework (RDF) model for causal
chain of diseases. RESULTS: We designed the RDF model as an implementation of the
RFM for the fact repository based on the ontological definitions of the RFM. 1554
diseases and 7080 abnormal states in six major clinical areas, which are
extracted from the disease ontology, are published as linked data (RDF) with
SPARQL endpoint (accessible API). Furthermore, the authors developed Disease
Compass, a navigation system for disease knowledge. Disease Compass can browse
the causal chains of a disease and obtain related information, including abnormal
states, through two web services that provide general information from linked
data, such as DBpedia, and 3D anatomical images. CONCLUSIONS: Disease Compass can
provide a complete picture of disease-associated processes in such a way that
fits with a clinician's understanding of diseases. Therefore, it supports user
exploration of disease knowledge with access to pertinent information from a
variety of sources.