Human Phenotype Ontology > Tools

Clinical diagnostics using the HPO

Phenomizer:
- A web-based application for clinical diagnostics in human genetics using semantic similarity searches in ontologies (Köhler et al., AJHG, October 2009).

Manual:
- The Manual for the Phenomizer can be found here.

News
- The Phenomizer has been update to the latest HPO ontology and annotation data. We also updated the p-values, meaning that the example from the publication (Table 1) is not exactly reproducable anymore. Sorry, for any inconvenience.

Browse the HPO

PhenExplorer: This is an AJAX-application to explore the HPO by visualizing the HPO terms to which Mendelian diseases are annotated or by finding all diseases in OMIM annotated to any one of the > 8000 HPO terms. Furthermore, links between HPO terms and genes are explored.