has characteristic has characteristic congenital disorder of glycosylation https://github.com/monarch-initiative/mondo/issues/4069 SCTID:238049009 NCIT:C84615 carbohydrate-deficient glycoprotein syndromes MONDO:0015286 congenital disorders of glycosylation carbohydrate-deficient glycoprotein syndrome CDG GARD:0010307 DOID:5212 ICD9:271.8 UMLS:C0282577 MESH:D018981 congenital disorder of glycosylation 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 MEDGEN:76469 carbohydrate deficient glycoprotein syndrome inborn errors of metabolism inborn carbohydrate metabolic disorder congenital