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Glossary

Ontology

An ontology specifies concepts, relationships and constraints used to interpret statements in a domain.

Knowledge fusion

An ontology gives explicit meanings to classes and relations in a domain. It may say that a clinical trial is a kind of study, define what a sponsor relation connects, or declare that two terms are equivalent under stated conditions. Formal ontologies can support logical inference, but the word also covers lighter conceptual models. A vocabulary becomes useful only when its terms are applied consistently.

Practitioners use ontologies to align sources, constrain data entry and make queries intelligible across datasets. Definitions should distinguish close but consequential concepts, such as sponsor, funder and collaborator. Changes to an ontology can change the meaning of existing assertions, so a record needs to know which version governed interpretation. Formal constraints do not prove that input facts are true.

For defensible action, a reviewer must understand what a field or relationship claims, not merely see its label. An ontology supplies that semantic contract. Schema alignment maps external fields into it; a knowledge graph uses its relation types; open-world and closed-world assumptions govern what absence of a statement permits one to conclude.

Example

A Halden Therapeutics AG (fictional) graph distinguishes trial sponsor from trial site using two explicitly defined relations.

What an ontology contains and how it is expressed

In information systems an ontology is a shared, explicit specification of the concepts in a domain and the relations among them, in a form a machine can use. Its parts are classes (kinds of thing), properties (relationships and attributes), individuals (particular things), axioms that restrict how these may combine, and annotations that carry definitions and labels for people. The W3C OWL 2 Web Ontology Language is the standard language for expressing ontologies on the web, closely related to RDF Schema, and the OWL 2 Primer is the usual starting point. Lighter vocabularies, such as those written in SKOS, organise concepts into thesauri and classification schemes without claiming the logical commitments of OWL classes.

The choice between these is a modelling decision with consequences. An OWL class supports inference: if every vendor is declared a kind of organisation, a vendor is inferred to be an organisation. A SKOS concept supports navigation and labelling without inference. The articles on SKOS concept versus OWL class and on OWL versus SHACL discuss when each is appropriate, and the difference between deriving new statements and validating the statements present.

Building and testing one

A practical method is set out in the Stanford guide Ontology Development 101: define the domain and scope, reuse existing ontologies where possible, list the terms, define classes and their hierarchy, define properties, and create instances. The guide makes a point that is often ignored: there is no single correct model of a domain, and the best test is whether the ontology serves the application it was built for. That test can be made explicit through competency questions, the questions the ontology must be able to answer, which the article on competency questions turns into a traceable contract between business need and ontology.

Ontologies change. Terms are split, merged and retired, and every change affects data already described with them. A responsible release process versions the ontology, publishes the differences, keeps retired terms resolvable with a pointer to their replacements, and checks the result against the data, as discussed in the articles on safe ontology releases beyond SHACL conformance and on deprecating and replacing terms.

A worked example

A small ontology for a fictional programme at Halden Therapeutics AG declares the classes Organisation, Study and Compound; the properties sponsors (Organisation to Study) and investigates (Study to Compound); and the axiom that a Study has at least one sponsor. A competency question is: which organisations sponsor studies of a given compound? The ontology answers it by following the two properties. A second question, which sponsors changed during a study, cannot be answered, because the model has no time on the property. That gap is the useful result of the exercise: it shows before data are loaded that the model needs a way to qualify the sponsorship with a period, which can then be added at the cost of a design change and not a data migration.

Related terms and boundaries

The ontology gives a knowledge graph its vocabulary and drives schema alignment when another source is mapped to it. Its inferences are governed by the open-world assumption, and the checks that data are complete in some respect are typically written separately, as closed-world constraints. An ontology is a model and not a source of facts about the world: loading it into a system does not make any statement in the data true.

Checks a reviewer can run

Ask for the competency questions the ontology must answer and run them. Ask how terms are versioned and retired. Check that definitions are written for people and not only labels. Ask which constraints are checked on data and by what tool. Confirm that nothing in the ontology is presented as a statement about the world.

Common misreadings

  • Mistaking formal consistency for factual correctness.
  • Using a term without a stable definition.
  • Changing definitions without tracking affected claims.

Related terms

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Enquiry

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