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B4GALT1-congenital disorder of glycosylation

Go to external page http://purl.obolibrary.org/obo/MONDO_0011772

B4GALT1-CDG is a congenital disorder of glycosylation characterized by macrocephaly due to Dandy-Walker malformation, hydrocephaly, hypotonia, myopathy and coagulation anomalies. To date, only one case has been reported. The syndrome is associated with mutations in the GALT1 gene (localized to region q13 of chromosome 9) leading to a deficiency in the Golgi apparatus enzyme beta-1,4-galactosyl transferase. [ Orphanet:79332 ]

Synonyms: congenital disorder of glycosylation type 2d congenital disorder of glycosylation type IId carbohydrate deficient glycoprotein syndrome type IId CDG-IId Beta-1,4-galactosyltransferase deficiency B4GALT1-CDG CDG2D B4GALT1-congenital disorder of glycosylation CDG syndrome type IId

This is just here as a test because I lose it

Term information

database cross reference
  • MESH:C535753 (MONDO:equivalentTo)
  • UMLS:C2931009 (MONDO:equivalentTo)
  • MEDGEN:419310 (MONDO:equivalentTo)
  • DOID:0070256 (MONDO:equivalentTo)
  • Orphanet:79332 (OMIM:607091)
  • GARD:9841 (MONDO:GARD)
  • OMIM:607091 (Orphanet:79332/e)
  • SCTID:725587007 (MONDO:equivalentTo)
Subsets

ordo_disorder, gard_rare, otar, rare, nord_rare, orphanet_rare

abbreviation
B4GALT1-CDG [ Orphanet:79332 ]

ClinGen label
B4GALT1-congenital disorder of glycosylation

abbreviation
CDG2D [ Orphanet:79332 https://omim.org/entry/607091 MONDO:Lexical ]

exactMatch

http://purl.obolibrary.org/obo/DOID_0070256

http://linkedlifedata.com/resource/umls/id/C2931009

https://omim.org/entry/607091

http://identifiers.org/mesh/C535753

http://identifiers.org/snomedct/725587007

http://identifiers.org/medgen/419310

http://www.orpha.net/ORDO/Orphanet_79332

has related synonym

congenital disorder of glycosylation, type IId

B4GALT1-CDG (CDG-IId)

CDG IId

CDG 2D

id

MONDO:0011772