Megan S. Kane
Megan S. Kane
I have run into a couple of cases where an OMIM entry is only once in MONDO, but the disease name it is associated with is the OMIM "included" disorder,...
Hi Nicole, Ada's response is how I understood the distinction between "included" vs "alternate" terms on the same OMIM number, which is reassuring. However, my question to Mondo may not...
I apologize for not catching this on the obsoletion candidate list before this was released, but I don't think it's correct to equate ovarian carcinoma with ovarian cancer. (Generally speaking,...
One additional note/comment here: [OMIM 115080](https://omim.org/entry/115080) has two disorders. OMIM's primary/preferred entry is CARDIAC CONDUCTION DEFECT, which UMLS maps to "Conduction disorder of the heart" (CUI: C0264886, with SCTID: 44808001,...
Hello. MedGen is still awaiting a decision on this ticket. Thanks :-)
@nicolevasilevsky - I have a question about the mapping of Orphanet:93921 to MONDO:0024517. The Orpha data points to multiple exact matches: UMLS:C1335929 (E) = "Schwannomatosis" (maps SNOMED CT 781641005, same...
Similar question about the mapping of Orphanet:99000 to OMIM:608161 & MONDO:0024561. The Orpha record maps to multiple causative genes, but the MIM record is ONLY mapping to peripherin 2. I...
As I read the data from OMIM 613985; there are two phenotypes on this entry: Thalassemia, beta (associated with the HBB locus, which is the preferred concept) and Thalassemia, Hispanic...
Just a gentle reminder that MedGen is still awaiting a decision from Mondo on this so we can appropriately represent this/these concept(s). Thanks!
From the MedGen team discussion: we are in favor of having terms for the more specific subtypes as well. The top-level grouping/lumping term can be useful, but when there are...