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.

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

TRPV4-related bone disorder RELABEL #6715

Closed
RyanFWebb opened this issue Sep 27, 2023 · 2 comments · Fixed by #7084
Closed

TRPV4-related bone disorder RELABEL #6715

RyanFWebb opened this issue Sep 27, 2023 · 2 comments · Fixed by #7084

Comments

@RyanFWebb
Copy link

Mondo term (ID and Label):
TRPV4-related bone disorder
MONDO:0018240

Suggested new label:
TRPV4-related skeletal dysplasia

Your nano-attribution (ORCID)
If you don't have an ORCID, you can sign up for one here
0009-0003-2127-3550

Optional: Any additional information (like supporting evidence, PubMed ID, etc.)
I am requesting this relabel on behalf of ClinGen's Skeletal Disorders GCEP.

@nicolevasilevsky
Copy link
Member

@RyanFWebb this tag is actually tagged for obsoletion, as it is a grouping class that groups together other disorders. Is this being used by your group?

cc @sabrinatoro

@RyanFWebb
Copy link
Author

@nicolevasilevsky @sabrinatoro Yes, we plan to use this tag to group together brachyolmia (MONDO:0015262), spondylometaphyseal dysplasia, Kozlowski type (MONDO:0008477), spondyloepimetaphyseal dysplasia, Maroteaux type (MONDO:0008473), and metatropic dysplasia (MONDO:0007986).

We will be taking down the four separate curations we currently have published to ClinGen's website in substitute of a single curation with the title "TRPV4-related skeletal dysplasia".

sabrinatoro added a commit that referenced this issue Jan 2, 2024
Closes #6715

@nicolevasilevsky could you please check that this is the only thing left to do for this issue? Thank you!
nicolevasilevsky pushed a commit that referenced this issue Jan 2, 2024
Closes #6715

@nicolevasilevsky could you please check that this is the only thing left to do for this issue? Thank you!
Sign up for free to join this conversation on GitHub. Already have an account? Sign in to comment
Projects
None yet
Development

Successfully merging a pull request may close this issue.

3 participants