[codex] Fix BBS4-related ciliopathy gene identifier#10347
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dragon-ai-agent wants to merge 1 commit into
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[codex] Fix BBS4-related ciliopathy gene identifier#10347dragon-ai-agent wants to merge 1 commit into
dragon-ai-agent wants to merge 1 commit into
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Summary
Refs #10346
Updates
MONDO:1040044(BBS4-related ciliopathy) so its logical definition uses the human BBS4 HGNC class,http://identifiers.org/hgnc/969, instead of the dog NCBI Gene class,http://identifiers.org/ncbigene/487634.Root cause
The broader human disease-spectrum term was using the same BBS4 label as the non-human dog term, but the identifier belonged to dog BBS4. The dog identifier remains appropriate for
MONDO:1011277(progressive retinal atrophy, BBS4-related, dog).Scope
This PR only applies the immediate data fix. Issue #10346 should remain open for the requested QC check to detect species-inappropriate gene identifiers in disease logical definitions.
Checks
make quickcheckfromsrc/ontology