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80 4 The Semantic Web and Bioinformatics Applications

the additional properties introduced by OWL and the restrictions imposed

by OWL Lite and OWL-DL.

Consider the following characterization of a disease syndrome: “The irido-

corneal endothelial syndrome (ICE) is characterized by corneal endothelium

proliferation and migration, iris atrophy, corneal oedema and/or pigmentary

iris nevi” (Jurowski et al. 2004). In this statement there are four symptoms,

and the ICE syndrome is stated to be characterized by exhibiting one or more

of these symptoms. In OWL one can specify an enumeration as follows:

<owl:Class rdf:ID="ICE-Symptoms">

<owl:oneOf parseType="Collection">

<Symptom name="corneal endothelium

proliferation and migration"/>

<Symptom name="iris atrophy"/>

<Symptom name="corneal oedema"/>

<Symptom name="pigmentary iris nevi"/>

</owl:oneOf>

</owl:Class>

This defines a class of symptoms consisting of exactly the ones specified. One

can then define the ICE syndrome as the subclass of disease for which at least

one of these four symptoms occurs:

<owl:Class rdf:ID="ICE-Syndrome">

<owl:intersectionOf parseType="Collection">

<owl:Class rdf:about="#Disease"/>

<owl:Restriction>

<owl:onProperty rdf:resource="#has-symptom"/>

<owl:someValuesFrom

rdf:resource="#ICE-Symptoms"/>

</owl:Restriction>

</owl:intersectionOf>

</owl:Class>

The statements above specify the ICE-Syndrome class as being the intersec-

tion of two sets:

1. The set of all diseases


2. The set of things that have at least one of the four ICE symptoms