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HPO (Human Phenotype Ontology) - Synopsis

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HPO allows for large-scale computational analysis of the human phenome.

HPO describes clinical abnormalities. It includes an is-a hierarchy, as well as broader, narrower, related and exact entry terms and synonyms. Each code is assigned to one of the five subontologies:

  • Phenotypic abnormality,
  • Mode of inheritance,
  • Clinical modifier
  • Clinical course,
  • Frequency

Sites Consulted

  1. Human Phenotype Ontology [Internet]. [place unknown]: Human Phenotype Ontology; [cited 2017 Oct 11]. Documentation | Human Phenotype Ontology; [cited 2017 Oct 11]. Available from: