Human Phenotype Ontology

January/February release

January 2017 release

We have just published a new release of HPO. A lot of changes can be found (especially in the OBO-version). We have closed a lot of tickets. The lay-person synonyms are now correctly tagged in the obo-version as well.

Important: we have also updated our annotation files. Note, that we do not access OMIM anymore (we stopped at 01-01-2016), such that annotations to an OMIM entry will only be made through manual work, i.e. by reading the correspondin publications and extracting HPO terms from there. Thus, currently the annotations of OMIM entries are being at a much slower speed as before. We are working on new text mining tools for this job, so this will be improved a lot soon.

Note, that Orphanet now annotates their disease entries directly with HPO and thus our data is up-to-date for these entries.

Disease-gene mappings are now created through mim2gene from Medgen (NCBI).