FAQ

how to interpret when I see multiple entries for the same diseases?

Open Targets uses disease information from different ontologies — like MONDO, HPO, Orphanet, etc. Each of them has its own way of defining diseases, MONDO is Monarch Disease Ontology which integrates multiple disease ontologies (like- Orphanet, OMIM, etc.)It Provides a comprehensive, disease-centric view and broader or more clinically focused data. HPO (Human Phenotype Ontology)- Focuses on phenotypic abnormalities encountered in human disease, offering a detailed phenotypic description.

MONDO shows a comprehensive disease-level representation, basically used for disease-centric studies. In most cases, MONDO is better to use because It is mapped to more external sources (UMLS, OMIM, Orphanet, etc.), and gives a more complete picture of the disease. HPO is very useful for symptom-driven analyses.