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parcel out OMIM ", Included" entries in OMIM ingest #84
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@nicolevasilevsky I just added you to the repo! You should be able to assign me in the future now. Thanks~. Most of this will be easy to do, but I think there is some additional nuance I'll run into. I think Nico said I should not have it be a top priority for right now. |
thanks @joeflack4! |
I thought a bit more about this, and I would like to be involved in the design of this feature. Essentially, we want: The first step in the process is to
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when we split out the included terms, we'll need to review the parents manually |
OMIM has 'included' entries in their records, which are properly distinct diseases and should be added separately to Mondo.
Per our conversation on the technical call on 11/18/22:
OMIM:XXXXXX
with source:MONDO:includedEntryInOMIM
For example:
https://omim.org/entry/607665
TUBULOINTERSTITIAL NEPHRITIS WITH UVEITIS should be a MONDO class with source:
'MONDO:equivalentTo'
ACUTE TUBULOINTERSTITIAL NEPHRITIS should be a separate Mondo class with source:
MONDO:includedEntryInOMIM
ACUTE TUBULOINTERSTITIAL NEPHRITIS should not be a synonym of TUBULOINTERSTITIAL NEPHRITIS WITH UVEITIS
Related to monarch-initiative/mondo#5507
I can't assign @joeflack4
cc @matentzn @sabrinatoro
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