db-monarch

Official

Query Monarch for disease-gene-phenotype data.

Authorbiomaps-infra
Version1.0.0
Installs0

System Documentation

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.

Dependency Matrix

Required Modules

requestspandas

Components

scriptsreferences

💻 Claude Code Installation

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Please help me install this Skill:
Name: db-monarch
Download link: https://github.com/biomaps-infra/blender-opencode/archive/main.zip#db-monarch

Please download this .zip file, extract it, and install it in the .claude/skills/ directory.
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