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Request for new term [FAM20B-CDG] #8525

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rlarson1015 opened this issue Jan 3, 2025 · 0 comments
Open

Request for new term [FAM20B-CDG] #8525

rlarson1015 opened this issue Jan 3, 2025 · 0 comments
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New term request user request A request from an external user

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@rlarson1015
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Label

FAM20B-CDG

Synonyms

FAM20B-congenital disorder of glycosylation

Synonym type

exact

Definition

Any congenital disorder of glycosylation in which the cause of the disease is a mutation in FAM20B. PMID: 37298583, PMID: 38653092, PMID: 30847897

Parent term

MONDO:0015286 congenital disorder of glycosylation

Children term(s)

No response

ORCID Identifier

https://orcid.org/0009-0005-6507-3838

Website URL

https://www.clinicalgenome.org/affiliation/40135/

Additional comments

Requesting on behalf of the ClinGen Congenital Disorders of Glycosylation GCEP.
@sagehrke sagehrke added the user request A request from an external user label Jan 8, 2025
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@sagehrke @rlarson1015