Genetic Tools · Phase 41 · Structured case exchange

GA4GH Phenopacket Builder

Create a structured Phenopacket v2 draft using pseudonymous identifiers, present/excluded HPO features, an optional disease name/identifier and an optional candidate-gene interpretation. Candidate genes are encoded only as IN_PROGRESS / CANDIDATE, never as an automatic solved diagnosis.

Phenopacket ID

Pseudonymous subject ID

Sex

Present HPO features

For robust validation, provide the official HPO label after each ID. If omitted, MDL will try to resolve it through Monarch.

Excluded HPO features (optional)

Disease ID (optional)

Disease name (optional)

Candidate gene HGNC ID (optional)

Candidate gene symbol (optional)

Ready.

Continue to Variant Prioritization Back to Phenotype Comparison Rare Disease Phenotype Gene–Disease Evidence

GA4GH Phenopacket Builder

Phenopacket draft