lschriml

Results 315 comments of lschriml

New term request: microcephaly-epilepsy-developmental delay syndrome

Just checked, no new OMIM record for this one yet.

Add "injection anthrax"

add injection anthrax, DOID:0081239

early onset and late onset Alzheimers

@sbello -- How do you feel about categorizing based on early or late onset. Question: what do we do with subtypes that are not defined as either early or late,...

early onset and late onset Alzheimers

Good points Sue. I was thinking about this last night. How about we just add a synonym following OMIM, add exact synonym : late-onset Alzheimer’s disease 15 It is a...

early onset and late onset Alzheimers

Sounds good !! Sent from my iPhone > On Nov 21, 2019, at 11:56 AM, Sue Bello wrote: > > I like the synonym plan. I can work on that...

early onset and late onset Alzheimers

UniProt group has asked for re-review; My notes: he DO team (cc'd) has been exploring how to best represent Alzheimer's. Thus far, we have been including the OMIM term names,...

early onset and late onset Alzheimers

@sbello - let's revisit this ticket. Lynn

early onset and late onset Alzheimers

> While we're looking at this, need to consider what to do with OMIM:502500 https://www.omim.org/entry/502500?search=502500 > ALZHEIMER DISEASE, SUSCEPTIBILITY TO, MITOCHONDRIAL @sbello - I think we can add this to...

new OMIM IDs - DO terms for GlyGen project

Will split out the type I's

review of autosomal dominant non-syndromic intellectual disability 7, DOID:0070037

Thank you for the term review !! We will review and update. Cheers, Lynn