Downloads
Download the ontology file (human-phenotype-ontology.obo, obo-format) and the annotation file (phenotype_annotation.omim, format) from our svn:The HPO can also be obtained in the form of a database. Files associated with that are in: If you have problems or questions related to the database version of the HPO,contact me.
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. 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.
The mapping is available at http://compbio.charite.de/svn/hpo/trunk/src/mappings/