HPO Workshop

The site contains material to help you learn about the Human Phenotype Ontology (HPO). It is intended to support workshops but can be used for self study. The workshop has a number of topics that are shown in the menu. Each topic contains one or more exercises and a link to a page with hints and answers.

HPOannotQC

Contents:

• Introduction
  • Scope of the HPO
  • Translations and Plain-language HPO
  • Community collaborations
• Navigating the HPO Website
  • The basics
• Phenomizer
  • Exercise 1
  • Exercise 2
  • Wrap-up
• Encoding Clinical Data with HPO
  • Exercise 1
  • Exercise 2
• Exomiser
  • Exercise 1
• Human, Mouse & Cross-Species Comparison
  • Monarch Initiative
  • Wrap-up

This application is designed to transform our internal HPO Annotation files (the small files) together with the Orphanet XML file into the phenotype.hpoa file. It performs extensive Q/C on the annotation files. By default it updates TermIds in the Orphanet files that have been updated.