Other ontologies we use and develop include the Human PhenotypeOntology (HPO), the GeneOntology (GO), the phenotype ontology UberPheno, the genotype ontology GENO, and the Monarch Disease Ontology (MONDO). By using ontologies, we are able to ensure that we are placing the puzzle pieces efficiently and in the right structure, establishing a unified portrait of the data landscape.
Once the data is integrated into our ontology-enhanced graph database, SciGraph, we can match phenotypes, genes, and diseases with each other using statistical similarity calculations. The user endpoint for this integrated data is our webportal: https://monarchinitiative.org. This site allows users to analyze sets of phenotypes, compare phenotypes between multiple diseases, genes, or models, and search for data associated with a specific disease. For instance, below is a portion of the overview page for Fanconi Anemia.