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Unified Medical Language System® (UMLS®)

HPO Source Information

Web site:

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

HPO has over 11,000 terms that describe clinical abnormalities. It includes relationships, all of which are transitive and is-a relationships. Each term is assigned to one of the four subontologies:

  • Phenotypic abnormality,
  • Mode of Inheritance,
  • Clinical Modifier, or
  • Mortality/Aging.

Sites Consulted

  1. Human Phenotype Ontology [Internet]. [place unknown]: Human Phenotype Ontology; [cited 2015 Dec 31]. Documentation | Human Phenotype Ontology; [cited 2015 Dec 31]. Available from: