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Additional OMIM phenotype for NOTCH2NLC#317

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NIID_NOTCH2NLC
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Additional OMIM phenotype for NOTCH2NLC#317
strchive-bot wants to merge 1 commit intomainfrom
NIID_NOTCH2NLC

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Harriet Dashnow
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@hdashnow
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Description
Additional phenotype listed in OMIM for this locus: https://omim.org/entry/618866
I've just updated disease and OMIM fields, but this may warrant some additional edits.

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@Macayla-weiner Macayla-weiner self-assigned this Feb 9, 2026
hdashnow added a commit that referenced this pull request Feb 18, 2026
## Description

Summarize the changes

Fixes: #318 , #295 , #317 , #284. #322, #319, #308

## Major Changes

- Updating outdated "mental retardation" to "intellectual development
disorder" in FRAXE (#318), FXS, & XMLR
- AFF2 name change (#318 ) and incomplete list of HPO terms added
- XLMR name change and disease ID change to XID and PHPX and overlap described
- New mechanistic information for OPDM2 (#295)
- Additional name added to NIID (#317)
- Added benign motif to CANVAS
- Handful of Motifs added to RFC1 (#322) 
- FTDALS1 pathogenic minimum brought down to 31 (intermediate brought
down to 30)

## Minor Changes

- FMR1 gene updated to fragile X messenger ribonucleoprotein 1 in FXS
description
- Added phenotype for premutation to FXTAS
- Additional mechanism detail added to NIID
- Added phenotype to CCHS

## Checklist

- [x] All changes are well summarized
- [ ] Check all tests pass
- [ ] Check that the website preview looks good
- [x] Update the STRchive version in `CITATION.cff`, format X.Y.Z. If
any major changes, increment Y. If only minor changes, increment Z. If
the breaking change (rare), increment X.
- [ ] Ask someone to review this PR

---------

Co-authored-by: Harriet Dashnow <h.dashnow@gmail.com>
Co-authored-by: hdashnow <3794821+hdashnow@users.noreply.github.com>
Co-authored-by: github-actions[bot] <41898282+github-actions[bot]@users.noreply.github.com>
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2 participants