Downloads

In general, users should always use the PURL (persisten URL), i.e.
http://purl.obolibrary.org/obo/hp.obo and
http://purl.obolibrary.org/obo/hp.owl
This currently re-directs to our Hudson page. Our Hudson-Page provides 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:
  • http://compbio.charite.de/hudson/job/hpo.annotations/lastStableBuild/
  • phenotype_annotation.tab
    contains annotations from the HPO-team (mostly referring to OMIM), Orphanet, and DECIPHER
  • phenotype_annotation_hpoteam.tab
    contains annotations the HPO-team (mostly referring to OMIM)
  • negative_phenotype_annotation.tab
    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: Documentation-files associated (the pdf's) with that are in: If you have problems or questions related to the database version of the HPO, contact Sebastian.

Furthermore, we provide two files (genes_to_phenotype.txt and phenotype_to_genes.txt) for the link between genes and HPO-terms. See:
These files will be updated at regular intervals (once every month). The links are generated using the information about the phenotypes of a particular syndrome and the corresponding genes that are known to cause this syndrome when mutated. Questions and further requests can be sent to Sebastian.


Older releases can be obtained from http://compbio.charite.de/svn/hpo/releases

LDDB Mapping

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/