Hi all,
I was wondering if anyone had looked at relationships around hereditary genes and how to identify them through the vocabularies? I assume this is related to the oncology extension but not sure if it has been discussed.
Hello,
currently genetics-related vocabularies’ content is not tied to syndromes, and it is more of a phenotyping task, which can be solved as a part of Oncology WG work (more info on Workgroups and their calls here). Such vocabularies are a vast field for Community Contributions (more info on them here).
I hope this was helpful!