New HPO release for June 2019


Sebastian
 

Dear HPO community,

the HPO consortium is announcing the June 2019 release of HPO and its associated resources.

Since the last release we have added 62 new OMIM entries and provide annotation updates for > 700 OMIM entries with a total of > 2000 new HPO-disease associations. Especially, there are new inheritance annotations to improve inheritance-mode-aware algorithms operating on HPO data.

We have added 2 new terms for LOINC annotations, as well as new synonyms to Triggered by (HP_0025204), Aggravated by (HP_0025285) terms, and Ameliorated by (HP_0025254). We added logical definitions to HP_0410282 'Abnormal circulating amylase level' and children terms. 'Abnormal hepatic iron concentration' was moved to be a child of 'Abnormal tissue metabolite concentration'. Further work has been done to enable the DOSDP/ODK pipeline that was started with the last release of HPO. Finally, we have fixed a lot of typos in text definitions and term labels.

As a side note: we have just made our 5000th commit to the HPO repository since our move to GitHub (see https://twitter.com/PeterPnrobinson/status/1135617836326432769)

We hope the above described changes are useful to our users. Should you need any further information, please do not hesitate to contact us or file an issue on our tracker at https://github.com/obophenotype/human-phenotype-ontology/issues/new/choose.

Thanks,
the HPO Team


--
Prof. Dr. Sebastian Köhler
Berlin Institute of Health | Charité | Einstein Center Digital Future
sebastian.koehler@charite.de
www.bihealth.org | www.digital-future.berlin | drseb.github.io | phenomics.github.io


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