In general, users should always use the PURL (persisten URL), i.e. and
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 (, 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: 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

Spanish Translation of the HPO

Pablo Lapunzina M.D., Ph.D., director of the Instituto de Genética Médica y Molecular (INGEMM) of the Universidad Autónoma de Madrid, Spain, has coordinated the development of a Spanish translation of the HPO. The HPO team says: ¡Muchas gracias! We offer an Excel file with the translation for download, and will be incorporating the data and future updates into a file that can be used with Protege.


HPO-Spanish HPO-Spanish (1,1 MB)

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