Phenotype, pathway & integrative
Monarch Initiative
Integrative phenotype platform
"Cross-species phenotypes, genes and diseases — built for translational research."
About the resource
The Monarch Initiative — a consortium led from Oregon Health & Science University with the Jackson Laboratory, EMBL-EBI, Berkeley Lab and many partners — builds an integrative cross-species knowledge graph of genes, variants, phenotypes and diseases. Its outputs include Mondo (the unified disease ontology), HPO (human phenotypes), uPheno (cross-species phenotype unification), the Monarch web platform itself, the Phenomizer and Exomiser variant-prioritisation tools, and the GA4GH Phenopackets standard.
Monarch is one of the most influential infrastructures in rare-disease research, model-organism translational analysis and clinical-genetics tooling.
What you'd use it for
- 01Match a patient phenotype to model-organism disease models
- 02Run cross-species phenotype enrichment for a candidate gene
- 03Pull Monarch's integrated KG into a translational-research pipeline
- 04Build GA4GH Phenopackets for international case-sharing
How you access it
Monarch web UINeo4j knowledge graphREST APIOpen-source tooling