monarch-database

What problem does it solve?

This Skill provides access to the Monarch Initiative's comprehensive knowledge graph, enabling users to query associations between genes, diseases, and phenotypes across multiple species, which is crucial for rare disease research and understanding genetic disorders.

Core Features & Use Cases

• Phenotype-to-Gene Mapping: Identify candidate genes associated with a set of patient phenotypes (HPO terms).
• Disease-Gene Associations: Retrieve genes linked to specific diseases (using MONDO, OMIM, or ORPHANET IDs).
• Cross-Species Modeling: Find orthologous genes in model organisms (mouse, zebrafish, etc.) for human diseases.
• HPO Term Lookup: Get definitions, names, and hierarchical information for Human Phenotype Ontology terms.
• Use Case: A researcher investigating a rare neurological disorder can input the patient's observed symptoms (as HPO terms) and use this Skill to find a ranked list of potential causative genes, along with their known associations and relevant animal models.

Quick Start

Use the monarch-database skill to find genes associated with the HPO terms HP:0001250 and HP:0004322.