congenital disorder of glycosylation
CDG
exact
carbohydrate deficient glycoprotein syndrome
exact
carbohydrate-deficient glycoprotein syndrome
exact
carbohydrate-deficient glycoprotein syndromes
related
congenital disorder of glycosylation
exact
congenital disorders of glycosylation
related
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.
MONDO:0019214
inborn carbohydrate metabolic disorder
excluded_subClassOf
MONDO:0019052
inborn errors of metabolism
is_a
SPCC31H12.07 SPCC338.15 SPCC1906.01 SPAPB2B4.01c SPCC1795.03 SPBC342.01c SPBC1734.12c SPBC1271.02 SPAC5D6.06c SPBC839.08c SPAC23C4.14 SPAC22G7.06c SPAC1556.07 SPAC16E8.07c SPBC1539.05 SPAC56E4.02c SPBC3D6.07 SPAC7D4.09c SPBC2A9.06c SPBC2G2.16 SPBC776.04 SPBC776.10c SPCC757.10 SPAC17C9.07 SPAC13G6.03 SPBC11B10.03 SPBC36.08c SPCC330.08 SPBC16C6.09 SPAC823.07 SPBC27B12.06 SPCC338.13 SPBC11B10.01 SPAC31G5.16c SPBC21B10.11 SPBC32F12.10 SPAC17G8.08c SPAC22F8.04 SPBC13E7.05 SPBC1604.15 SPAC1296.01c SPCC1235.06 SPAC13C5.05c SPBC1677.02 SPAC186.05c SPAPB1E7.09 SPAC4D7.04c SPAC7D4.06c SPBC19G7.14c SPBPJ4664.06 SPAC1834.05 SPAC144.10c SPAC18B11.05 SPAC227.19c SPBC887.19 SPBC1921.06c SPCC1672.12c SPBC8D2.14c SPAC22A12.07c SPBC15D4.04 SPAC6G10.09 SPCC63.10c SPAC144.15c SPAPB17E12.11