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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:congenital disorder of glycosylation
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Accession:EFO:MONDO:0015286 term browser browse the term
Definition: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.
Synonyms:exact_synonym: CDG;   carbohydrate deficient glycoprotein syndrome
 related_synonym: carbohydrate-deficient glycoprotein syndromes;   congenital disorders of glycosylation
 alt_id: MONDO:0015286
 xref: DOID:5212;   GARD:10307;   ICD9:271.8;   MEDGEN:76469;   MESH:D018981;   NCI:C84615;   ORDO:137;   SCTID:238049009;   UMLS:C0282577

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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          genetic disorder 0
            inborn errors of metabolism 0
              congenital disorder of glycosylation 0
                ALG14-congenital disorder of glycosylation + 0
                Ehlers-Danlos syndrome, musculocontractural type 0
                Larsen-like syndrome, B3GAT3 type 0
                XYLT1-congenital disorder of glycosylation 0
                autosomal recessive limb-girdle muscular dystrophy type 2P 0
                congenital disorder of glycosylation type I + 0
                congenital disorder of glycosylation type II + 0
                congenital disorder of glycosylation with defective fucosylation 0
                congenital disorder of glycosylation, type Ibb 0
                congenital disorder of glycosylation, type Iw, autosomal dominant 0
                congenital muscular dystrophy with intellectual disability 0
                developmental and epileptic encephalopathy, 55 0
                disorder of multiple glycosylation + 0
                disorder of protein N-glycosylation + 0
                disorder of protein O-glycosylation + 0
                glycosylphosphatidylinositol biosynthesis defect 15 0
                glycosylphosphatidylinositol biosynthesis defect 16 0
                glycosylphosphatidylinositol biosynthesis defect 17 0
                glycosylphosphatidylinositol biosynthesis defect 18 0
                inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation + 0
                neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures 0
                progressive myoclonic epilepsy type 3 0
                schneckenbecken dysplasia 0
                seizures-scoliosis-macrocephaly syndrome 0
                temtamy preaxial brachydactyly syndrome 0
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