Individual skill
monarch-database
Query the Monarch Initiative knowledge graph for disease-gene-phenotype associations across species. Integrates OMIM, ORPHANET, HPO, ClinVar, and model organism databases. Use for rare disease gene discovery, phenotype-to-gene mapping, cross-species disease modeling, and HPO term lookup.
skills/07-临床医学与精准医疗/monarch-database/SKILL.md
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# Monarch Initiative Database
## Overview
The Monarch Initiative (https://monarchinitiative.org/) is a multi-species integrated knowledgebase that links genes, diseases, and phenotypes across humans and model organisms. It integrates data from over 40 sources including OMIM, ORPHANET, HPO (Human Phenotype Ontology), ClinVar, MGI (Mouse Genome Informatics), ZFIN (Zebrafish), RGD (Rat), FlyBase, and WormBase.
Monarch enables:
- Mapping phenotypes across species to identify candidate disease genes
- Finding all genes associated with a disease or phenotype
- Discovering model organisms for human diseases
- Navigating the HPO hierarchy for phenotype ontology queries
**Key resources:**
- Monarch portal: https://monarchinitiative.org/