Home

Welcome to the Human Phenotype Ontology wiki!

The HPO provides an ontology to describe and annotate the phenotypic manifestations of human disease. The HPO provides classes (terms) that describe the individual manifestations of disease (signs, symptoms, laboratory measurements, imaging, etc.). This wiki is mainly intended for the HPO team and all those who would like to contribute to the HPO by suggesting new terms, providing bug reports, or developing disease annotations. The wiki contains general observations on long-term goals of the HPO project (which include deepening and expanding coverage of common diseases and cancer), as well as guidelines for text and computational definitions.

User Docs

• How to make a good term request
• What makes up a good HPO term?
• General definitions
• Bundled terms
• Immunology
• Nephrology
• Neurology
• Skeletal
• Ophthalmology
• Assays
• Downloadable files

Editor Docs

• Embedding images in GitHub Wiki
• Editor Guide
• Layperson synonym annotation: Best practices
• Term Obsoletion
• Numerical synonyms
• Release pipeline
• Annotations
• Keeping the OWL Top Level Clean
• Running the Makefile

Design Patterns

• General-rules-for-design-patterns
• Design Patterns for Lab Values
• Movement
• Spectra and subclasses
• Restrictions for phenotype logical definitions
• Terms with identical logical definitions

Strategy Docs

• [Past Medical History](Past Medical History)
• Craniofacial musings