DownloadsPlease check our Hudson-Page for Stable releases.
Download the ontology file (hp.obo in obo-format or hp.owl in owl-format) and the annotation file (phenotype_annotation.tab, format) from our hudson page:
Download the associations between diseases and phenotypic features (HPO-terms) here:
contains annotations from the HPO-team (mostly referring to OMIM), Orphanet, and DECIPHER
contains annotations the HPO-team (mostly referring to OMIM)
contains negative annotations (i.e. a disease is NOT associated with this HPO-term)
The HPO can also be obtained in the form of a database. The most recent dump of this DB can be accessed at: Sebastian.
Furthermore, we provide two files (genes_to_phenotype.txt and phenotype_to_genes.txt) for the link between genes and HPO-terms. See:
The HPO team (Sandra, Peter, Sebastian) is currently developing a mapping between the categories of the London Dysmorphology Database (LDDB), which is an important resource used by many clinical geneticists to help in the differential diagnosis. The mapping is provided so that users will be able to convert phenotypic data encoded with LDDB categories into HPO terms.
The mapping is available at http://compbio.charite.de/svn/hpo/trunk/src/mappings/