monarch-database

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

1|Updated Mar 4, 2026
One-click install
npx skills add https://github.com/Hung-3008/agusta --skill monarch-database-hung-3008
Or copy as Structured Prompt for Agent
Please help me install this Agent Skill.
Skill: monarch-database
Source: https://github.com/Hung-3008/agusta/tree/main/.agents/skills/monarch-database
Command: npx skills add https://github.com/Hung-3008/agusta --skill monarch-database-hung-3008

SYSTEM DOCUMENTATION & REQUIREMENTS

💡 This Skill includes references (resource) components.

What problem does it solve?

The Monarch Initiative database enables researchers to map disease-gene-phenotype associations across humans and model organisms, supporting cross-species insights for rare diseases and phenotype-driven gene discovery.

Core Features & Use Cases

  • Cross-species disease-gene mapping to identify candidate genes for a given phenotype
  • HPO term and MONDO disease lookups for integrated ontologies
  • Orthologs and model organism links to explore functional analogs across species
  • Phenotype-to-gene associations and disease modeling workflows

Quick Start

Query the Monarch API for HP:0001250 to retrieve associated genes.

Frequently Asked Questions about monarch-database

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

FAQPage Schema
How do I map a human phenotype to candidate genes across species?

You can perform cross-species disease-gene mapping by querying the Monarch API v3 with an HPO term like HP:0001250 to retrieve associated genes and orthologs. The Skill supports robust pagination to handle large result sets during phenotype-to-gene mapping workflows.

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

Cross-species disease modeling uses the Monarch knowledge graph to identify functional analogs of human diseases in model organisms. You need it when researching rare diseases to find orthologs and explore disease-gene-phenotype associations beyond human data.

Can I look up MONDO disease terms and HPO phenotypes using this API?

Yes, the Skill supports HPO term and MONDO disease lookups via the Monarch API v3 endpoints. It integrates these ontologies to retrieve disease-gene-phenotype associations and support cross-species disease modeling workflows.

Does the Monarch API v3 support ortholog mapping for rare disease gene discovery?

Yes, the Monarch API v3 supports ortholog mapping to explore functional analogs across species for rare disease gene discovery. It retrieves disease-gene-phenotype associations and provides model organism links to identify candidate genes.

How do I retrieve disease-gene-phenotype associations with Python examples?

You retrieve disease-gene-phenotype associations by querying the Monarch API v3 endpoints using provided Python examples. The Skill handles robust pagination to ensure complete retrieval of association data across large cross-species datasets.

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

The Monarch knowledge graph relies on existing ontological annotations and cross-species data coverage, meaning phenotype-to-gene mapping is constrained by the availability of HPO and MONDO term mappings and model organism ortholog data within the API v3 endpoints.