Human Phenotype Ontology

HPO Browser

The HPO Browser has a separate page for every term in the HPO. The following page, for instance, is for the root term: http://www.human-phenotype-ontology.org/hpoweb?id=HP:0000118.

PhenExplorer: The PhenExplorer has been superceded by the new HPO browser, which has all the functionalities of PhenExplorer and has additional features such as Excel-Exports

Clinical diagnostics using the HPO

Phenomizer:

The Phenomizer is available at http://compbio.charite.de/phenomizer.

It is a web-based application for clinical diagnostics in human genetics using semantic similarity searches in ontologies Köhler et al., AJHG, October 2009. The Manual for the Phenomizer can be found here. Note, that since the initial publication The Phenomizer has been update to the latest HPO ontology and annotation data. Of course, we also updated the p-values, meaning that the example from the publication (Table 1) is not exactly reproducible anymore. Sorry, for any inconvenience.

You may also try a new beta-prototype (Orphamizer) using a different algorithm and a different set of diseases and phenotype-associations. (See http://compbio.charite.de/phenomizer_orphanet)

Phenotype-driven interpretation of NGS results (Exome, Panel, or Whole-genome)

Please have a look at PhenIX and Exomiser.

Phenotype-driven interpretation of Copy-number variation

PhenogramViz helps to visually explore gene-to-phenotype relations in CNVs. It also prioritzes pathogenic CNVs.