Human Phenotype Ontology (HPO) Mapper

Enter a pathological finding (e.g., "chronic inflammation") and anatomical region (e.g., "terminal ileum") to map it to the closest Human Phenotype Ontology (HPO) term and retrieve genes annotated as being associated with this HPO term.

References: Kadhim, A. Z., Green, Z., Nazari, I., Baker, J., George, M., Heinson, A., Stammers, M., Kipps, C., Beattie, R. M., Ashton, J. J., & Ennis, S. (2025). Application of generative artificial intelligence to utilise unstructured clinical data for acceleration of inflammatory bowel disease research. medRxiv. https://doi.org/10.1101/2025.03.07.25323569

Gargano, M. A., Matentzoglu, N., Coleman, B., Addo-Lartey, E. B., Anagnostopoulos, A. V., Anderton, J., Avillach, P., Bagley, A. M., Bakštein, E., Balhoff, J. P., Baynam, G., Bello, S. M., Berk, M., Bertram, H., Bishop, S., Blau, H., Bodenstein, D. F., Botas, P., Boztug, K., Čady, J., … Robinson, P. N. (2024) The Human Phenotype Ontology in 2024: phenotypes around the world. Nucleic Acids Research https://doi.org/10.1093/nar/gkad1005

HPO to gene mappings obtained from Jax