DOCS PhenoTypic Submission

Welcome to GPAP-PhenoStore’s documentation!

Contents:

• Create a New Case
  • Form Submission
  • Bulk Import
  • Edit Index Case Pedigree
  • Add a member to a pedigree
• Permissions
• Browse Cases
• Export Cases
• External Resources

The phenotypic module facilitates the collection of structured clinical data using standard ontologies such as the Human Phenotype Ontology (HPO), the Orphanet Rare Disease Ontology (ORDO) and Online Mendelian Inheritance in Man (OMIM). Below we explain how to submit a new index case, and how to add new family members to the pedigree chart. If you have any questions, please contact our helpedesk via help@rd-connect.com

Access the Phenotypic Data Submission module

• Access https://platform.rd-connect.eu/phenostore

Left side-bar (1) - Side-bar fixed in all phenotypic submission steps - provides direct access to different phenotype submission steps.

Bottom menus (2) - Menus containing access to different ways to introduce participants, and to browse your submitted cases.