The Monarch Initiative

Patient Variant Analysis

Combine genotype and phenotype data across species for patient variant prioritization, functional annotation and pathogenicity determination.

Patient Archive

Securely share & discuss patients with colleagues all around the world.                                                               

Text Mining

Use our text mining engines to annotate phenotypes/diseases in your free text. Then optionally compare those phenotypes across species to find candidate models of disease.

Literature

Find literature relevant to a set of phenotypes of interest                                                               
Human Phenotype Ontology We have developed the Human Phenotype Ontology (HPO), a vocabulary to describe human disease features (phenotypes). As of Spring 2016, the HPO includes synonyms that patients, doctors, and machines can all understand.

Compare Phenotypes

Find models and diseases similar to a set of abnormal phenotypes of interest and then visualize their overlap.