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congenital disorder of glycosylation

Go to external page http://purl.obolibrary.org/obo/MONDO_0015286

Congenital disorder of glycosylation (CDG) is a fast growing group of inborn errors of metabolism characterized by defective activity of enzymes that participate in glycosylation (modification of proteins and other macromolecules by adding and processing of oligosaccharide side chains). CDG is comprised of phenotypically diverse disorders affecting multiple systems including the central nervous system, muscle function, immunity, endocrine system, and coagulation. The numerous entities in this group are subdivided, based on the synthetic pathway affected, into disorder of protein N-glycosylation, disorder of protein O-glycosylation, disorder of multiple glycosylation, and disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation. [ Orphanet:137 ]

Synonyms: congenital disorder of glycosylation CDG carbohydrate-deficient glycoprotein syndrome carbohydrate deficient glycoprotein syndrome

This is just here as a test because I lose it

Term information

database cross reference
  • MESH:D018981 (MONDO:equivalentTo)
  • ICD9:271.8 (MONDO:relatedTo)
  • Orphanet:137 (MONDO:equivalentTo)
  • MEDGEN:76469 (MONDO:equivalentTo)
  • DOID:5212 (MONDO:equivalentTo)
  • SCTID:238049009 (MONDO:equivalentTo)
  • GARD:10307 (MONDO:GARD)
  • UMLS:C0282577 (MONDO:equivalentTo)
  • NCIT:C84615 (MONDO:equivalentTo)
Subsets

gard_rare, otar, disease_grouping, rare, ordo_group_of_disorders

abbreviation
CDG [ Orphanet:137 ]

ClinGen label
congenital disorder of glycosylation

conformsTo

http://purl.obolibrary.org/obo/mondo/patterns/inborn_metabolic.yaml

http://purl.obolibrary.org/obo/mondo/patterns/inborn_metabolic_disrupts.yaml

exactMatch

http://www.orpha.net/ORDO/Orphanet_137

http://linkedlifedata.com/resource/umls/id/C0282577

http://identifiers.org/medgen/76469

http://purl.obolibrary.org/obo/NCIT_C84615

http://identifiers.org/mesh/D018981

http://purl.obolibrary.org/obo/DOID_5212

http://identifiers.org/snomedct/238049009

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0019214

has related synonym

carbohydrate-deficient glycoprotein syndromes

congenital disorders of glycosylation

id

MONDO:0015286

term tracker item

https://github.com/monarch-initiative/mondo/issues/4069