Request for new term B3GALT6-CDG

[rlarson1015]

Label

B3GALT6-CDG

Synonyms

B3GALT6-congenital disorder of glycosylation

Synonym type

exact

Definition

Any congenital disorder of glycosylation in which the cause of the disease is a mutation in B3GALT6.
PMID: 30740740

Parent term

MONDO:0015286 congenital disorder of glycosylation

Children term(s)

MONDO:0012282 Al-Gazli syndrome, MONDO:0014139 Ehlers-Danlos syndrome, spondylodysplastic type, 2, MONDO:0010075 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures

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. All indicated children terms will be curated under congenital disorder of glycosylation.