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Ontology Browser
Term:
congenital disorder of glycosylation (EFO:MONDO:0015286)
Annotations: Rat: (0) Mouse: (0) Human: (0) Chinchilla: (0) Bonobo: (0) Dog: (0) Squirrel: (0) Pig: (0) Naked Mole-rat: (0) Green Monkey: (0)
Parent Terms Term With Siblings Child Terms
2-hydroxyglutaric aciduria +  
abdominal obesity-metabolic syndrome +  
achondrogenesis type IB 
apolipoprotein c-III deficiency 
aromatase excess syndrome 
ASAH1-related disorders +  
atelosteogenesis type II 
autosomal dominant myoglobinuria 
autosomal dominant proximal renal tubular acidosis 
autosomal recessive proximal renal tubular acidosis 
chondrocalcinosis 2 
chondrodysplasia with joint dislocations, gPAPP type 
congenital disorder of deglycosylation +  
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.
congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome 
diastrophic dysplasia 
disorder of GPI anchor biosynthesis +  
disorder of lysosomal-related organelles +  
disorder of metabolite absorption and transport +   
disorder of peptide and amine metabolism +  
DNA repair deficiency +  
Ehlers-Danlos syndrome, spondylodysplastic type +  
familial hypocalciuric hypercalcemia +  
familial hypoparathyroidism +  
familial intrahepatic cholestasis +  
ferro-cerebro-cutaneous syndrome 
fish eye disease 
gluthathione peroxidase deficiency 
glycoprotein metabolism disease +  
hemolytic anemia due to diphosphoglycerate mutase deficiency 
hereditary amyloidosis +   
hereditary lipodystrophy +  
hereditary recurrent myoglobinuria +  
hypercalcemia, infantile +  
hypermanganesemia with dystonia +  
hypoalphalipoproteinemia, primary, 1 
hypophosphatasia +  
hypotonia-failure to thrive-microcephaly syndrome 
inborn aminoacylase deficiency +  
inborn carbohydrate metabolic disorder +  
inborn disorder of amino acid and other organic acid metabolism +  
inborn disorder of amino acid metabolism +   
inborn disorder of biogenic amine metabolism and transport +  
inborn disorder of energy metabolism +  
inborn disorder of porphyrin metabolism +  
inborn disorder of purine or pyrimidine metabolism +  
inborn glycerol kinase deficiency +  
inborn metal metabolism disorder +   
inherited lipid metabolism disorder +   
inherited thyroid metabolism disease +  
lysosomal storage disease +   
monogenic diabetes +  
mucopolysaccharidosis or mucopolysaccharidosis-like disorder +  
multiple epiphyseal dysplasia type 4 
NAD(P)HX dehydratase deficiency 
neurodegeneration with brain iron accumulation +  
normophosphatemic familial tumoral calcinosis 
peroxisomal disease +  
plasma protein metabolism disease +  
polysyndactyly 4 +  
renal tubular acidosis, distal, 3, with or without sensorineural hearing loss 
spondyloepimetaphyseal dysplasia, PAPSS2 type 
spondyloepiphyseal dysplasia with congenital joint dislocations 
sulfation-related bone disorder 
sulfide quinone oxidoreductase deficiency 
synucleinopathy +   
thiopurine metabolic disease +  
tumoral calcinosis, hyperphosphatemic, familial, 2 
tumoral calcinosis, hyperphosphatemic, familial, 3 
uridine-cytidineuria 
vitamin metabolic disorder +  
Waldenstrom macroglobulinemia  

Synonyms
Exact Synonyms: CDG ;   carbohydrate deficient glycoprotein syndrome
Related Synonyms: carbohydrate-deficient glycoprotein syndromes ;   congenital disorders of glycosylation
Alternate IDs: MONDO:0015286
Xrefs: DOID:5212 ;   GARD:10307 ;   ICD9:271.8 ;   MEDGEN:76469 ;   MESH:D018981 ;   NCI:C84615 ;   ORDO:137 ;   SCTID:238049009 ;   UMLS:C0282577
Definition Sources: Orphanet:137

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