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Request for new term ALG14-congenital disorder of glycosylation #7389

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gleon98 opened this issue Mar 8, 2024 · 0 comments · Fixed by #7549
Closed

Request for new term ALG14-congenital disorder of glycosylation #7389

gleon98 opened this issue Mar 8, 2024 · 0 comments · Fixed by #7549
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gleon98 commented Mar 8, 2024

Label

congenital disorder of glycosylation

Synonyms

ALG14-CDG

Synonym type

None

Definition

Deficiency in the ALG14 enzyme results in incomplete assembly of the LLO, leading to insufficient N-glycosylation of glycoproteins

Parent term

MONDO:0019052

Children term(s)

MONDO:0014542, MONDO:0033572, MONDO:0033619

ORCID Identifier

No response

Website URL

No response

Additional comments

The child terms listed were reviewed by the Clingen CDG GCEP and decided to be lumped together as ALG-CDG on 2/21/24.

Here is the link to the approved curation https://curation.clinicalgenome.org/curation-central/50f587e6-0129-4885-89fd-bc5dedcb9ccd/gene-disease-evidence-summary/?snapshot=057fa84c-0f3d-4bfc-a046-297d48b6a069&affiliationId=10135
@sabrinatoro sabrinatoro added the user request A request from an external user label Apr 3, 2024
@sabrinatoro sabrinatoro self-assigned this Apr 3, 2024
nicolevasilevsky added a commit that referenced this issue Apr 5, 2024
@nicolevasilevsky
add new term ALG14-congenital disorder of glycosylation
4370596 
close #7389
@nicolevasilevsky nicolevasilevsky mentioned this issue Apr 5, 2024
Merged
@nicolevasilevsky nicolevasilevsky moved this from Backlog to Under review in 2024-05 Mondo Release Apr 5, 2024
sabrinatoro added a commit that referenced this issue Apr 8, 2024
@nicolevasilevsky @sabrinatoro
add new term ALG14-congenital disorder of glycosylation (#7549)
34c662e 
* add new term ALG14-congenital disorder of glycosylation

close #7389

* reclassify term

* update ID from parent

---------

Co-authored-by: Sabrina Toro <[email protected]>
@github-project-automation github-project-automation bot moved this from Under review to Done in 2024-05 Mondo Release Apr 8, 2024
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add new term ALG14-congenital disorder of glycosylation monarch-initiative/mondo
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@nicolevasilevsky @sabrinatoro @gleon98