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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 Beta-1,4-galactosyltransferase deficiency CDG-IId carbohydrate deficient glycoprotein syndrome type IId 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
  • DOID:0070256 (MONDO:equivalentTo)
  • MESH:C535753 (MONDO:equivalentTo)
  • UMLS:C2931009 (MONDO:equivalentTo)
  • SCTID:725587007 (MONDO:equivalentTo)
  • GARD:9841 (MONDO:GARD)
  • Orphanet:79332 (OMIM:607091)
  • OMIM:607091 (Orphanet:79332/e)
  • MEDGEN:419310 (MONDO:equivalentTo)
Subsets

matrix_llm__is_cancer_other, gard_rare, ordo_disorder, matrix_llm__txgnn_other, mondo_top_grouping_member, nord_rare, matrix_included, mondo_top_grouping_metabolic_disease, matrix_txgnn_grouping_member, rare, orphanet_rare, harrisons_view_nervous_system_disorder, matrix_llm__is_glucose_dysfunction_other, otar, harrisons_view_disorder_of_development_or_morphogenesis, matrix_llm__tag_qualy_lost_other, matrix_llm__medical_specialization_other, mondo_top_grouping_hereditary_disease, matrix_llm__tag_existing_treatment_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, matrix_txgnn_grouping_metabolic_disease, harrisons_view_member, mondo_top_grouping_nervous_system_disorder, mondo_top_grouping_disorder_of_development_or_morphogenesis, harrisons_view_hereditary_disease, harrisons_view_metabolic_disease

abbreviation
B4GALT1-CDG [ Orphanet:79332 ]

abbreviation
CDG2D [ MONDO:Lexical Orphanet:79332 https://omim.org/entry/607091 DOID:0070256 ]

ClinGen label
B4GALT1-congenital disorder of glycosylation

exactMatch

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

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

https://omim.org/entry/607091

http://identifiers.org/mesh/C535753

http://identifiers.org/snomedct/725587007

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

http://identifiers.org/medgen/419310

has related synonym

congenital disorder of glycosylation, type IId

B4GALT1-CDG (CDG-IId)

CDG IId

CDG 2D

id

MONDO:0011772