alterlab-monarch

What problem does it solve?

Monarch-based queries unify disease-gene-phenotype data across species, enabling researchers to find candidate genes, map phenotypes to diseases, and explore model organism connections. It integrates data from OMIM, ORPHANET, HPO, ClinVar, and model organism databases to support cross-species disease biology.

Core Features & Use Cases

• Monarch API access for multi-source phenotype-to-gene and disease-to-phenotype associations.
• Cross-species disease-gene mapping and ortholog exploration to identify model organisms.
• HPO term lookup and MONDO-based disease integration to prioritize rare-disease candidates.
• Example workflows include phenotype-driven gene prioritization and cross-species model discovery.

Quick Start

Query Monarch with a set of HPO terms to retrieve implicated genes and associated diseases.