Downloads

Download the

ontology file and the
annotation file for human Mendelian diseases listed in OMIM.

These files are updated regularly.

The HPO can also be obtained in the form of a database. Files associated with that are:

If you have problems or questions related to the database version of the HPO,contact me.

Furthermore, we provide two files for the link between genes and HPO-terms:

These files will be updated at regular intervals. 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.koehler(at)charite.de.

LDDB Mapping

The HPO team 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. We anticipate that the mapping will be completed by the Autumn of 2010, but we have placed the current version (in which approximately 85% of the LDDB categories have been mapped) here for as a request for comments.

LDDB Mapping Summary (290,8 kB)