monarch-database

Query Monarch API v3 to map phenotypes to genes and diseases to gene associations.

1|Updated Mar 19, 2026
One-click install
npx skills add https://github.com/JosephWoodall/noosphere --skill monarch-database-josephwoodall
Or copy as Structured Prompt for Agent
Please help me install this Agent Skill.
Skill: monarch-database
Source: https://github.com/JosephWoodall/noosphere/tree/main/.agent/skills/monarch-database
Command: npx skills add https://github.com/JosephWoodall/noosphere --skill monarch-database-josephwoodall

SYSTEM DOCUMENTATION & REQUIREMENTS

💡 This Skill includes references (resource) components.

What problem does it solve?

Monarch Initiative knowledge base links genes, diseases, and phenotypes across humans and model organisms, enabling rapid cross-species disease-gene mapping and phenotype-driven gene discovery.

Core Features & Use Cases

  • Cross-species gene-disease mapping: retrieve candidate genes for given HPO terms or diseases.
  • Phenotype-to-gene lookups: find genes linked to human or model organism phenotypes across species.
  • Disease-model discovery: explore orthologs and cross-species models to study human diseases using MONDO/HPO identifiers.

Quick Start

Query Monarch API v3 to fetch genes associated with a set of HPO terms.

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 phenotype terms to candidate genes across species?

Yes, you can retrieve cross-species disease models by querying Monarch API v3 with MONDO or OMIM identifiers. The API returns orthologs and associated genes, enabling comparative studies of human diseases in model organisms.

Can I find cross-species disease models using MONDO disease identifiers?

Yes, you can retrieve cross-species disease models by querying Monarch API v3 with MONDO or OMIM identifiers. The API returns orthologs and associated genes, enabling comparative studies of human diseases in model organisms.

Do I need internet access to query Monarch for disease-gene associations?

Yes, operational use requires internet access to reach the Monarch API v3. All disease-gene associations, phenotype-to-gene mappings, and HPO term lookups are fetched live from the external Monarch Initiative knowledge base.

What identifier formats are supported for phenotype-to-gene lookups?

Phenotype-to-gene lookups require inputs expressed as MONDO, OMIM, or HPO identifiers. These standardized ontology identifiers allow the Monarch API v3 to accurately retrieve matching gene associations across humans and model organisms.

What is the best way to discover rare disease candidate genes from phenotype data?

Querying the Monarch Initiative API v3 with a set of HPO terms is the best way to fetch associated candidate genes for rare disease gene discovery. This cross-species knowledge base links phenotypes directly to human and model organism genes.

Why should I use cross-species disease-gene mapping instead of human-only databases?

Cross-species disease-gene mapping via Monarch retrieves orthologs and model organism phenotypes that human-only databases lack. This broader context aids phenotype-driven gene discovery and reveals evolutionary conservation relevant to rare diseases.