monarch-database

Query Monarch Initiative REST API for disease-gene-phenotype associations.

298|27|Updated Feb 18, 2026
One-click install
npx skills add https://github.com/jaechang-hits/SciAgent-Skills --skill monarch-database
Or copy as Structured Prompt for Agent
Please help me install this Agent Skill.
Skill: monarch-database
Source: https://github.com/jaechang-hits/SciAgent-Skills/tree/main/skills/genomics-bioinformatics/monarch-database
Command: npx skills add https://github.com/jaechang-hits/SciAgent-Skills --skill monarch-database

SYSTEM DOCUMENTATION & REQUIREMENTS

💡 This Skill requires requests, pandas, matplotlib, and includes scripts (resource) and references (resource) components.

What problem does it solve?

This Skill provides programmatic access to the Monarch Initiative's knowledge graph, enabling users to query complex relationships between diseases, genes, and phenotypes, crucial for rare disease research and diagnostics.

Core Features & Use Cases

  • Disease-Gene Associations: Retrieve genes linked to specific diseases (e.g., causal genes for MONDO IDs).
  • Disease-Phenotype Mapping: Find Human Phenotype Ontology (HPO) terms associated with diseases.
  • Entity Metadata: Look up details for genes, diseases, or phenotypes using their identifiers.
  • Cross-Species Comparisons: Analyze gene-phenotype links across different model organisms.
  • Use Case: Given a patient's list of HPO terms, identify candidate genes by finding genes associated with diseases that share those phenotypes.

Quick Start

Use the monarch-database skill to find all genes associated with Marfan syndrome (MONDO:0007374).

Frequently Asked Questions about monarch-database

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

FAQPage Schema
How do I find candidate genes for rare diseases using HPO terms?

You can find candidate genes by querying the Monarch Initiative knowledge graph to identify diseases sharing your patient's HPO phenotype terms, then retrieving the causal genes associated with those matched diseases.

How do I query disease-gene-phenotype associations using the Monarch Initiative API in Python?

To query disease-gene-phenotype associations, you use Python requests to access the Monarch Initiative REST API, leveraging pandas to retrieve, filter, and structure the resulting entity metadata and association data.

Can I retrieve causal genes for a specific disease using its MONDO ID?

Yes, you can retrieve causal genes for a specific disease by querying the Monarch Initiative knowledge graph with its MONDO ID to fetch directly mapped gene-disease associations.

Can I analyze cross-species orthology and gene-phenotype links across model organisms?

Cross-species orthology is supported by the Monarch Initiative API, allowing you to analyze gene-phenotype links across different model organisms for comparative rare disease research.

Do I need pandas and matplotlib to map disease-phenotype networks?

You need pandas for data retrieval and manipulation to build disease-phenotype networks, while matplotlib can be used to visually plot the mapped HPO terms and their disease associations.

What are the limitations of querying the Monarch Initiative knowledge graph for rare diseases?

The Monarch Initiative API has limitations based on available knowledge graph data coverage and cross-references; querying may yield incomplete associations for poorly characterized rare diseases or unmapped model organisms.