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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?
• Bundled terms
• Topic Specific Rules

Editor Docs

• Embedding images in GitHub Wiki
• Editors' Guide
• Add classes from external ontologies
• Layperson synonym annotation: Best practices
• Abbreviation synonym annotation
• Term Obsoletion
• Numerical synonyms
• Annotations
• Keeping the OWL Top Level Clean
• Creating releases of HPO
• UK Spelling Synonym Generation Pipeline
• Running QC locally
• Turn ontology into TSV that can be used to create seperate NTRs
• GitHub stats

Design Patterns and logical definitions

• General-rules-for-design-patterns
• General definitions-(English language)
• Design Patterns for Lab Values
• Movement
• Spectra and subclasses
• Protege and label-based editing (PATO:quality vs BFO:quality)
• Restrictions for phenotype logical definitions
• Terms with identical logical definitions
• Add new logical definitions to HPO using DOSDPs
• SOP: Adding an EQ definition (Currently obsolete, as we have reverted to editing EQs with Protege)
• Generate import