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GNB1-Related Disorder #8167

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galyea123 opened this issue Sep 16, 2024 · 1 comment · May be fixed by #8383
Open

GNB1-Related Disorder #8167

galyea123 opened this issue Sep 16, 2024 · 1 comment · May be fixed by #8383
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@yshwetar
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curate-athon tickets that will be worked on during a curate-athon curateathon2024 synonym user request A request from an external user

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@galyea123
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Mondo term

intellectual disability, autosomal dominant 42

Synonyms

No response

Synonym type

exact

Additional comments

This is related to 6600. We have a NORD report about this condition with the requested synonym name.
Thank you! Gioconda
@sagehrke sagehrke added the user request A request from an external user label Sep 30, 2024
yshwetar added a commit that referenced this issue Nov 14, 2024
@yshwetar
Update GNB1-related disorder
871c12e 
Closes #8167
@yshwetar yshwetar linked a pull request Nov 14, 2024 that will close this issue
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@yshwetar yshwetar self-assigned this Nov 14, 2024
@sabrinatoro
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Hello @galyea123
According to OMIM:139380, a variation in the GNB1 gene can lead to multiple diseases, including, but not limited to 'intellectual disability, autosomal dominant 42'. Therefore "GNB1-Related Disorder" should be broad and not exact.
Do you have any other information that we could refer to and that would support this synonym as exact?
Thank you!

@sabrinatoro sabrinatoro added the curate-athon tickets that will be worked on during a curate-athon label Feb 10, 2025
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Update GNB1-related disorder monarch-initiative/mondo
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@sabrinatoro @sagehrke @galyea123 @yshwetar