is a Data Source.
Phenopacket Store is a curated collection of GA4GH Phenopackets describing individuals with rare and Mendelian disease, assembled from the medical literature by the Monarch Initiative and GA4GH community. Each phenopacket captures a case's observed and excluded phenotypic features encoded with the Human Phenotype Ontology (HPO), along with the underlying genetic variants and disease diagnosis. The collection provides standardized, machine-readable case data used to power phenotype-driven analyses such as genotype-phenotype correlation studies and diagnostic tool benchmarking.
phenotype, clinical, genomics, precision medicine, biomedical, rare disease
| ID | Name | URL | Category | Format | Description |
|---|---|---|---|---|---|
| phenopacket-store.release | Phenopacket Store Release | zenodo.13168726 | Product | json | Versioned release of the Phenopacket ... |
| ID | Name | URL | Category | Format | Relation | Description |
|---|---|---|---|---|---|---|
| sri-reference-kg.graph | SRI-Reference KG (KGX distribution) | monarch-kg.tar.gz (219.4 MB) | Graph | kgx | had primary source | KGX distribution of the SRI-Reference KG |
| pavs-kg.sparql | PAVS SPARQL Endpoint | sparql | Programming Interface | http | had primary source | Public Virtuoso SPARQL endpoint for t... |
| pavs-kg.portal | PAVS Web Portal | pavs.phenomebrowser.net | Graphical Interface | http | had primary source | PAVS web portal with phenotype-based ... |
| pavs-kg.api | PAVS REST API | docs | Programming Interface | http | had primary source | FastAPI REST API backing the PAVS por... |
Phenopacket Store is a curated collection of GA4GH Phenopackets describing individuals with rare and Mendelian disease, assembled from the published medical literature by the Monarch Initiative and the broader GA4GH community. Each phenopacket records a case’s observed and excluded phenotypic features encoded with the Human Phenotype Ontology (HPO), together with the causal genetic variants and the disease diagnosis.
The collection provides standardized, machine-readable case data that power phenotype-driven analyses, including genotype-phenotype correlation studies and the benchmarking of phenotype-driven diagnostic tools. In KG-Registry, Phenopacket Store serves as an upstream ingest source for the Monarch/SRI Reference Knowledge Graph. Releases are versioned and archived on Zenodo.
Created: June 18, 2026 | Last modified: September 23, 2026