db-monarch

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

Updated Mar 13, 2026
One-click install
npx skills add https://github.com/biomaps-infra/blender-opencode --skill db-monarch
Or copy as Structured Prompt for Agent
Please help me install this Agent Skill.
Skill: db-monarch
Source: https://github.com/biomaps-infra/blender-opencode/tree/main/.opencode/skills/db-monarch
Command: npx skills add https://github.com/biomaps-infra/blender-opencode --skill db-monarch

SYSTEM DOCUMENTATION & REQUIREMENTS

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

What problem does it solve?

This Skill provides access to the Monarch Initiative's integrated knowledge graph, enabling users to query complex relationships between diseases, genes, and phenotypes across multiple species.

Core Features & Use Cases

  • Rare Disease Gene Discovery: Identify candidate genes associated with a patient's observed phenotypes (HPO terms).
  • Cross-Species Disease Modeling: Find model organisms (e.g., mouse, zebrafish) relevant to human diseases.
  • HPO Term Lookup & Navigation: Retrieve definitions, hierarchies, and search for Human Phenotype Ontology terms.
  • Disease Comparison: Assess the phenotypic similarity between different diseases.
  • Use Case: A researcher investigating a rare neurological disorder can input a list of HPO terms describing the patient's symptoms and receive a ranked list of potential causative genes, along with information on their known associations and relevant animal models.

Quick Start

Use the db-monarch skill to find genes associated with the HPO terms for seizures and short stature.

Frequently Asked Questions about db-monarch

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 phenotype terms?

To find candidate genes for rare diseases, you can input a list of Human Phenotype Ontology (HPO) terms describing patient symptoms. The Skill queries the Monarch Initiative knowledge graph and returns a ranked list of potential causative genes based on known disease-gene-phenotype associations.

Can I search for model organisms relevant to specific human diseases across species?

Yes, you can search for model organisms relevant to human diseases across species. The Skill queries the Monarch knowledge graph to integrate model organism databases, enabling cross-species disease modeling for genes and phenotypes associated with mice, zebrafish, and other organisms.

How do I retrieve definitions and hierarchies for Human Phenotype Ontology terms?

You can retrieve definitions and hierarchies for Human Phenotype Ontology terms using the Skill's HPO term lookup and navigation features. It queries the Monarch API v3 to return specific HPO term definitions, structural hierarchies, and related phenotype data.

Does this Skill integrate data from OMIM, ORPHANET, and ClinVar for phenotype-to-gene mapping?

Yes, the Skill integrates data from OMIM, ORPHANET, ClinVar, and model organism databases for phenotype-to-gene mapping. It queries the Monarch Initiative knowledge graph to consolidate these sources for rare disease gene discovery and phenotypic similarity assessment.

What's the best way to compare phenotypic similarity between different rare diseases?

The best way to compare phenotypic similarity between different diseases is to query the Monarch knowledge graph using the Skill's disease comparison features. It analyzes shared HPO terms and gene associations to assess phenotypic overlap across the integrated disease data.

Do I need the Python requests and pandas libraries to use the Monarch Initiative API client?

Yes, you need the Python requests and pandas libraries installed. The Skill utilizes a Python client that depends on requests to interact with the Monarch API v3 for data retrieval, and pandas to structure and analyze the returned disease-gene-phenotype association datasets.