Downloads

Download the

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

These files are updated on daily basis.

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

• phenotype-to-gene
• gene-to-phenotype

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.