Megan S. Kane

@nicolevasilevsky and @drseb just following up on this pending question. Though maybe this is one that should be attn: @pnrobinson ? Thanks!

@nbosc: the appropriate way to contact UMLS regarding HPO:CUI mappings is to open a ticket with the NLM Help Desk via this page: https://support.nlm.nih.gov/support/create-case/ (I work with the MedGen dataset,...

Based on HPO and SNOMED CT synonyms, Arthrogryposis and arthrogryposis multiplex congenita are equivalent (SCTID:111246005 and HP:0002804) So I was going to suggest a merge of MONDO:0015168 and MONDO:0008779 (both...

@ahamosh @nicolevasilevsky Would be very interested to hear your thoughts this topic.

@icordovaG I've been waiting for the OLS update, too. Looks like it finally processed... https://www.ebi.ac.uk/ols/ontologies/mondo Version: 2022-10-11 Number of terms: 44643 Last loaded: Tue Oct 18 14:46:32 BST 2022 and...

Can I ask that someone take a look at the MONDO:0011940 & MONDO:0000070 Merge that has been pending for a while? (scheduled for obsoletion on or after 2022-10-01) Also Mycobacterium...

Hi Nicole: why did you opt not to merge SC phocomelia syndome with the broader roberts-sc phocomelia syndrome? I dont see current sources in Mondo to support MONDO:0100282 as a...

Hi Nicole, looking back over my original post and comments, I think your proposal covers the different facets of the original request (and clarifies the different presentations of rapid onset...

@nicolevasilevsky MedGen will continue to support the OMIM and HPO terms. Thus, even if these aren't in scope for Mondo, MedGen can and will still represent these terms from our...

I agree this needs review... OMIM [113800](http://www.omim.org/entry/113800) does not seem to be a correct match to this term, so it probably needs to split out to its own entry that...