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Remove incorrect OMIM:266600 xref from ulcerative colitis (EFO_0000729)#2610

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aleixpuigb merged 3 commits intomasterfrom
copilot/update-efo-term-ulcerative-colitis
Feb 24, 2026
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Remove incorrect OMIM:266600 xref from ulcerative colitis (EFO_0000729)#2610
aleixpuigb merged 3 commits intomasterfrom
copilot/update-efo-term-ulcerative-colitis

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Copilot AI commented Jan 19, 2026

OMIM:266600 ("INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 1; IBD1") was incorrectly cross-referenced to ulcerative colitis (EFO_0000729). This OMIM term is Crohn's disease-specific.

Changes

  • Removed <oboInOwl:hasDbXref>OMIM:266600</oboInOwl:hasDbXref> from EFO_0000729
  • OMIM:266600 remains correctly associated with Crohn's disease (EFO_0000384)

Related: opentargets/issues#4225

Original prompt

This section details on the original issue you should resolve

<issue_title>[Update] Request for update to ulcerative colitis</issue_title>
<issue_description>### Term to be updated

EFO_0000729

Change(s) to EFO term(s)

  • Typo (label, definition, synonym etc.)
  • Incorrect annotation (xref, synonym, etc.)
  • New annotation (xref,synonym, etc.)
  • Update label
  • Update parent term(s)
  • Update child term(s)
  • Other

Comment

As discussed in opentargets/issues#4225, there is an erroneous link between ulcerative colitis and OMIM:266600 which is labelled as "INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 1; IBD1". OMIM:266600 is a Crohn's disease specific term, not a synonym for ulcerative colitis.</issue_description>

Comments on the Issue (you are @copilot in this section)


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Co-authored-by: aleixpuigb <94959119+aleixpuigb@users.noreply.github.com>
Copilot AI changed the title [WIP] Update incorrect annotation for ulcerative colitis Remove incorrect OMIM:266600 xref from ulcerative colitis (EFO_0000729) Jan 19, 2026
Copilot AI requested a review from aleixpuigb January 19, 2026 11:26
@aleixpuigb aleixpuigb marked this pull request as ready for review February 24, 2026 11:39
@aleixpuigb aleixpuigb merged commit 7e383ea into master Feb 24, 2026
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@aleixpuigb aleixpuigb deleted the copilot/update-efo-term-ulcerative-colitis branch February 24, 2026 11:52
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[Update] Request for update to ulcerative colitis

2 participants