Skip to content
New issue

Have a question about this project? Sign up for a free GitHub account to open an issue and contact its maintainers and the community.

Sign up for GitHub

By clicking “Sign up for GitHub”, you agree to our terms of service and privacy statement. We’ll occasionally send you account related emails.

Already on GitHub? Sign in to your account

Jump to bottom

keratoconus #8068

Closed
galyea123 opened this issue Aug 15, 2024 · 2 comments
Closed

keratoconus #8068

galyea123 opened this issue Aug 15, 2024 · 2 comments
Assignees
@yshwetar
Labels
curateathon2024 rare disease user request A request from an external user

Comments

@galyea123
Copy link
Collaborator

Hi! Keratoconus was obsoleted in Orphanet and recent publications show that is not rare in USA either. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9375461/
https://www.aoa.org/news/clinical-eye-care/diseases-and-conditions/pediatric-keratoconus-prevalence-higher-than-believed-may-change-care-approach?sso=y
https://journals.lww.com/claojournal/abstract/2021/09000/estimated_prevalence_of_keratoconus_in_the_united.5.aspx

Thank you!

Gioconda Alyea
@sagehrke sagehrke added the user request A request from an external user label Aug 20, 2024
@yshwetar yshwetar self-assigned this Nov 14, 2024
yshwetar added a commit that referenced this issue Nov 14, 2024
@yshwetar
Remove rare labels for Keratoconus
199fd4d 
Closes #8068

According to literature, keratoconus is not a rare disease (as high as 5% population has this disease). Removed rare labels. Added item tracker
@sabrinatoro sabrinatoro mentioned this issue Nov 14, 2024
Merged
@sabrinatoro
Copy link
Collaborator

Thank you @galyea123.
All rare disease subsets are maintained automatically based on external sources. We will share this information with the rare disease source so they can update their rare disease list that Mondo ingests.

@sabrinatoro
Copy link
Collaborator

@ericsid
Please see above: keratoconus (MONDO:0015486) is no longer considered rare in the US. You might want to review your rare disease association with this term. Thank you!

sabrinatoro added a commit that referenced this issue Nov 14, 2024
@yshwetar @sabrinatoro
Update porphyria due to ALA dehydratase deficiency (#8394)
08473fe 
* Update porphyria due to ALA dehydratase deficiency

Closes #8036

Updated the ClinGen preferred label to match the ClinGen IEM GCEPs current request. Updated definition, is essentially the same as the previous without typos or use of DALAD (submitter mentions this is an antiquated term). Included term tracker as well

* Remove rare labels for Keratoconus

Closes #8068

According to literature, keratoconus is not a rare disease (as high as 5% population has this disease). Removed rare labels. Added item tracker

* updates a few things as described in the comments

---------

Co-authored-by: Sabrina Toro <[email protected]>
Sign up for free to join this conversation on GitHub. Already have an account? Sign in to comment
Assignees

@yshwetar yshwetar

Labels
curateathon2024 rare disease user request A request from an external user
Projects
None yet
Milestone
No milestone
Development

No branches or pull requests
4 participants
@sabrinatoro @sagehrke @galyea123 @yshwetar