monarch-database

Query the Monarch Initiative knowledge graph for disease-gene-phenotype associations across species.

1|Updated Mar 11, 2026
One-click install
npx skills add https://github.com/SciMate-AI/scicli --skill monarch-database-scimate-ai
Or copy as Structured Prompt for Agent
Please help me install this Agent Skill.
Skill: monarch-database
Source: https://github.com/SciMate-AI/scicli/tree/main/internal/skills/bundled/claude-scientific-skills/skills/monarch-database
Command: npx skills add https://github.com/SciMate-AI/scicli --skill monarch-database-scimate-ai

SYSTEM DOCUMENTATION & REQUIREMENTS

💡 This Skill includes references (resource) components.

What problem does it solve?

Query the Monarch Initiative knowledge graph to identify disease-gene-phenotype associations across species, enabling researchers to discover candidate disease genes and model organisms across human and model species.

Core Features & Use Cases

  • Cross-species phenotype-to-gene mapping and disease-gene associations using Monarch API v3.
  • HPO term lookup, disease-to-disease and gene-to-phenotype queries, and ortholog mappings to support rare-disease research and translational modeling.
  • End-to-end workflows including rare-disease gene prioritization and multi-ontology integration for cross-referencing MONDO/OMIM/ORPHANET.

Quick Start

Provide a list of HPO terms to retrieve associated genes and ranked candidates from Monarch.

Frequently Asked Questions about monarch-database

High-intent search queries and answers about installing and using this skill.

FAQPage Schema
How do I map HPO terms to candidate genes for rare disease discovery?

Cross-species disease-gene-phenotype association querying allows you to identify candidate disease genes and model organisms across human and model species by querying the Monarch Initiative knowledge graph via Monarch API v3 endpoints.

What is cross-species disease modeling and when do I need ortholog data?

Cross-species disease modeling identifies orthologous genes across species to study human disease mechanisms, needed when translating phenotype-to-gene mapping results from model organisms to clinical rare disease research.

Can I query disease-to-disease and gene-to-phenotype associations using MONDO and OMIM identifiers?

Yes, you can query disease-to-disease and gene-to-phenotype associations using MONDO, OMIM, and ORPHANET identifiers through multi-ontology integration and Monarch API v3 endpoints for cross-referencing disease ontologies.

Does the Monarch API v3 support HPO term lookup and ortholog mappings for translational research?

Yes, the Monarch API v3 supports HPO term resolution, ortholog mappings, and association queries to deliver structured results for cross-species disease modeling and translational research workflows.

What's the best way to prioritize candidate genes for rare disease research using phenotype data?

The best way to prioritize candidate genes for rare disease research is providing a list of HPO terms to retrieve associated genes and ranked candidates from the Monarch knowledge graph using multi-ontology integration.

What are the limitations of cross-species phenotype-to-gene mapping using the Monarch knowledge graph?

Limitations of cross-species phenotype-to-gene mapping include dependency on the coverage of the Monarch knowledge graph and the availability of ortholog data across species for accurate disease-gene-phenotype association results.