Integrating the human phenotype ontology into HeTOP terminology-ontology server

Stud Health Technol Inform. 2013:192:961.


The Human Phenotype Ontology (HPO) is a controlled vocabulary which provides phenotype data related to genes or diseases. The Health Terminology/Ontology Portal (HeTOP) is a tool dedicated to both human beings and computers to access and browse biomedical terminologies or ontologies (T/O). The objective of this work was to integrate the HPO into HeTOP in order to enhance both works. This integration is a success and allows users to search and browse the HPO with a dedicated interface. Furthermore, the HPO has been enhanced with the addition of content such as new synonyms, translations, mappings. Integrating T/O such as the HPO into HeTOP is a benefit to vocabularies because it allows enrichment of them and it is also a benefit for HeTOP which provides a better service to both humans and machines.

MeSH terms

  • Biological Ontologies*
  • Databases, Genetic*
  • Genetic Predisposition to Disease / genetics*
  • Humans
  • Medical Record Linkage / methods*
  • Natural Language Processing*
  • Phenotype
  • Systems Integration
  • Terminology as Topic*
  • Vocabulary, Controlled*