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

Request for new term [Jeune syndrome - GRK2-related] #8545

Open
azankl opened this issue Jan 7, 2025 · 0 comments
Open

Request for new term [Jeune syndrome - GRK2-related] #8545

azankl opened this issue Jan 7, 2025 · 0 comments
Labels
New term request user request A request from an external user

Comments

@azankl
Copy link

azankl commented Jan 7, 2025 •
edited
Loading

Label

Jeune syndrome - GRK2-related

Synonyms

asphyxiating thoracic dystrophy - GRK2-related, short rib polydactyly - GRK2 related, short rib thoracic dystrophy - GRK2 related

Synonym type

exact

Definition

A form of Jeune syndrome caused by biallelic loss-of-function variants in the GRK2 gene (PMID:38647386, PMID:38585547, PMID:33200460)

Parent term

MONDO_0018770 Jeune Syndrome

Children term(s)

No response

ORCID Identifier

https://orcid.org/0000-0001-8612-1062

Website URL

No response

Additional comments

Has no OMIM ID yet, so important to have a MONDO ID to define this disease. Included in the 2023 Skeletal Dysplasia Nosology (PMID: 36779427).
@sagehrke sagehrke added the user request A request from an external user label Jan 8, 2025
Sign up for free to join this conversation on GitHub. Already have an account? Sign in to comment
Assignees
No one assigned
Labels
New term request user request A request from an external user
Projects
None yet
Milestone
No milestone
Development

No branches or pull requests
2 participants
@azankl @sagehrke