Skip Navigation Bar

Unified Medical Language System® (UMLS®)

HPO Source Information

Web site:
http://human-phenotype-ontology.github.io/

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

Description
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: http://human-phenotype-ontology.github.io/documentation.html