Sue Bello

Results 118 comments of Sue Bello

See spreadsheet https://docs.google.com/spreadsheets/d/10cE_2fGyEW1B2r_6yeIYqeTMbYmpmdwflamf7aGbUm0/edit?usp=sharing for progress

If you want to add them to the priority table that would be great! I'll be notified when you do and can see if this pushes them over the threshold...

Thanks Steven! I'll work on transferring over those that crossed the 4 group threshold. Sue

Thanks Steven! I'm starting to work through the updates you made to the add priority list. The terms that were miss classified raised a bunch of those terms to the...

Emailed OMIM again today to see if they have any advice. If I don't hear back by the time we finish with the UniProt work, I'll proceed with the split...

@lschriml I'm not sure if this is new or if it just popped up now due to new annotations. I think the issue may be because endocrine gland has only...

Hmm, the MP imports built using the ODK include the "part of" relations ![MP_import_endocrine](https://user-images.githubusercontent.com/10979793/184660562-16960e60-9abb-49c5-9982-ddbec8320778.png) DO may want to adjust the imports to include part of's at least for anatomy where...

References: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5006267/ https://www.ncbi.nlm.nih.gov/pubmed/18646561 https://www.ncbi.nlm.nih.gov/pubmed/17878207 https://www.ncbi.nlm.nih.gov/pubmed/29067961 From OMIM: The limb-girdle phenotype is characterized by onset of muscular weakness apparent after ambulation is achieved; mental retardation and mild brain anomalies are variable...

Orphanet structure http://www.orpha.net/ORDO/Orphanet_370953