Manual curation for 2026.06 release (using new pipeline)

[apriltuesday]

Refer to documentation for full description of steps.

Checklist:

• Step 1 — Process
• Step 2 — Curate
  • Curation
  • Review 1
  • Review 2
• Step 3 — Export
• Step 4 — EFO feedback

[apriltuesday]

@Dona094 @tcezard Spreadsheet is ready here: https://docs.google.com/spreadsheets/d/1bGvasSK3KWmBc9MeNh8oXk02zdPO9rf7GSft18kJRyQ/edit?usp=sharing

This is the first curation using the new pipeline from #497. There are a couple extra columns in the spreadsheet, but the curation process itself should not change much - I’ve updated the SOP in #499, so please refer to that and let me know any changes we should make to the SOP or the spreadsheet. Thank you!

[Dona094]

@tcezard @apriltuesday Moving to review status:

Summary

DONE: 100
IMPORT: 104
NEW: 5
UNSURE: 1

Notes

One duplicate entry: “disorder of bone”.
One pair differing only by a spelling error: SCN3A-related neurodevelopmental sisorder and SCN3A-related neurodevelopmental disorder

[apriltuesday]

Thanks Dona! Haven't done a full review yet, but just on your two notes:

• Rows corresponding to duplicate entries can always be removed, as described here (second example). In this case it was because the pipeline found two mappings from OxO (see column P). You did the right thing by choosing http://purl.obolibrary.org/obo/MONDO_0005381 instead of either of them though, so you can just delete the other row.
• This is an error in ClinVar, it will probably be corrected at some point. Meanwhile I think we could map it the same as SCN3A-related neurodevelopmental disorder since that's obviously the intent.

[tcezard]

I've review the terms and resolve the UNSURE to IMPORT.

[apriltuesday]

Looks good to me, thanks both!

This is the first export since we started filtering out unused obsolete mappings in #495 - this removed about 3K obsolete mappings from the database. Shouldn't cause any issues but noting it down just in case.