Nico Matentzoglu

Thank you Joe! Labels look awesome. Something is not quite as I expected: I am looking for example at this row: OMIM:617396 | MONDO:0054561 | anauxetic dysplasia 2 | Orphanet:93347...

@nicolevasilevsky can you check two of joes examples and see if they are new mappings as we would expect?

OK, remaining action item, then close: - [ ] @nicolevasilevsky to review new mapping proposals from @joeflack4 list above, curating them into Mondo

I think this ticket need some strong sheperding. I will reassign it to you @nicolevasilevsky - I don't think it is the most important to deal with but if we...

Thank you @maglott This makes great sense. I will do all the synonym related tickets in one big go in the next weeks!

Yes, we will deal with that, but synonyms are not our priority before around August.. But it is firmly in our plan. For now, all our work goes into syncing...

Thanks @maglott I unchecked the UMLS iri just in case we want to go over this again!

We can certainly hack the subclasses with sparql+regex. I will let @nicolevasilevsky guide me on this!

Are these disease defining genes, or just associated genes? If the latter, aren't they added through the OMIM monarch ingest?

@sabrinatoro Do we have a documentation page that describes exactly under which condition a disease-gene relationship is imported? As far as I understand, causal is not enough, I though the...