Nicole Vasilevsky

Results 630 comments of Nicole Vasilevsky

need to add n=1 subset tag to OMIM_606631 Camurati-Engelmann Disease, Type 2

added subset tag in PR https://github.com/monarch-initiative/mondo/pull/220

@ahamosh could you please review this ticket and let us know your thoughts? Thank you! :)

Hi @ahamosh - no worries! We can discuss it on a future call. Thank you and have a good week!

note to self- this seems like it should be a sibling term to: MONDO:0009725 'nemaline myopathy 2' which is the AR form to do: - [ ] add logical def...

@LengUNC are you part of the ClinGen team? If yes, could you provide the link for the expert group you are in? thanks!

@ValWood this is a disease susceptibility term, so we don't want to add it into the proper disease branch. I can revise it so it states it predisposes towards young-onset...

Hi @eedoh01 - this should be available in the next release at the beginning of August. Thanks! 🌞

Hi there! @sabrinatoro and I have a couple questions about this request, please see below. 1) Could you please describe how is this new term related to [OMIM:612158](https://omim.org/entry/612158) Cardiomyopathy, dilated,...

Hi @courtneythaxton and @inuli-create- my apologies for the delay on working on this ticket, we are under-resourced on the Mondo team. I am not sure I understand the course of...