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relabel MONDO:8000023 type 3 autoimmune lymphoproliferative syndrome#9610

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issue-9474
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relabel MONDO:8000023 type 3 autoimmune lymphoproliferative syndrome#9610
MeeSiing wants to merge 1 commit intomasterfrom
issue-9474

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close #9474

relabeled MONDO:8000023 type 3 autoimmune lymphoproliferative syndrome to 'autoimmune lymphoproliferative syndrome-unknown underlying mechanism'

  • following the update on NCIT and Medgen to help clarify it from the previous split of this concept from an OMIM record with specific molecular etiology

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I disagree with these changes, and with this request in general.
Let's discuss this with the whole team on a curation call.
@MeeSiing, please add it to the agenda.

Here are some reasons why I think that this label is not great, and I personally do not think it should be the mondo official label.

  1. NCIT calls it differently: Autoimmune Lymphoproliferative Syndrome-Unknown Underlying Mutation
  2. we do not use name that are "unknown X". When something is unknown, the one should use the parent term. Because it is possible that it will be known in a few years
  3. there is an underlying mechanism known: according to the definition, it is caused by a defect in the Fas-induced apoptosis pathway

@MeeSiing MeeSiing added the blocked Something needs to be done before work can proceed label Nov 3, 2025
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MONDO:8000023 type 3 autoimmune lymphoproliferative syndrome

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