Terminology Service for NFDI4Health

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. [ ]

Term info

Label

congenital disorder of glycosylation

Synonyms
  • CDG
  • carbohydrate deficient glycoprotein syndrome
  • carbohydrate-deficient glycoprotein syndrome
  • congenital disorder of glycosylation
database cross reference
Subsets

disease_grouping, clingen, ordo_group_of_disorders

exactMatch

http://purl.obolibrary.org/obo/Orphanet_137, http://linkedlifedata.com/resource/umls/id/C0282577, 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

narrowMatch

https://icd.codes/icd10cm/E77.8

see also

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