Phenopackets Tutorials

Learn how to create and work with phenopackets step by step

Tutorials

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Introduction to Phenopackets

Learn what Phenopackets are and why they matter

5 min read

What are Phenopackets?

Phenopackets are a standard for sharing disease and phenotype information to improve diagnostic accuracy, translational research, and treatment of disease.

Key Points

  • Phenopackets use standardized ontologies (HPO, MONDO, etc.)
  • They enable interoperability between different healthcare systems
  • Built on open standards like JSON for easy integration
  • Designed for rare disease diagnosis and research

A phenopacket contains structured information about a patient's symptoms, diseases, genetic variants, and more.