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
Term information
- ICD9:271.8 (MONDO:relatedTo)
- Orphanet:137 (MONDO:equivalentTo)
- DOID:5212 (MONDO:equivalentTo)
- UMLS:C0282577 (MONDO:equivalentTo)
- MESH:D018981 (MONDO:equivalentTo)
- SCTID:238049009 (MONDO:equivalentTo)
- NCIT:C84615 (MONDO:equivalentTo)
- GARD:10307 (MONDO:GARD)
- MEDGEN:76469 (MONDO:equivalentTo)
gard_rare, otar, disease_grouping, rare, ordo_group_of_disorders
http://www.orpha.net/ORDO/Orphanet_137
http://linkedlifedata.com/resource/umls/id/C0282577
http://purl.obolibrary.org/obo/NCIT_C84615
http://identifiers.org/medgen/76469
http://identifiers.org/mesh/D018981
http://purl.obolibrary.org/obo/DOID_5212
http://identifiers.org/snomedct/238049009
carbohydrate-deficient glycoprotein syndromes
congenital disorders of glycosylation