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Congenital Disorders of Glycosylation

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Definition: A genetically heterogeneous group of heritable disorders resulting from defects in protein N-glycosylation.      Other names Syndromes, Carbohydrate-Deficient Glycoprotein; Syndrome, Carbohydrate-Deficient Glycoprotein; Carbohydrate-Deficient Glycoprotein Syndromes; Carbohydrate Deficient Glycoprotein Syndrome; Glycoprotein Syndrome, Carbohydrate-Deficient; Carbohydrate-Deficient Glycoprotein Syndrome
 
SubstanceCAS Registry & nameCategoriesSource
Congenital disorder of glycosylation, type 2G  0   *Congenital Disorders of Glycosylation.
Congenital disorder of glycosylation, type 2C  0   *Congenital Disorders of Glycosylation.
Congenital disorder of glycosylation type 2E  0   *Congenital Disorders of Glycosylation.
Congenital disorder of glycosylation type 2D  0   *Congenital Disorders of Glycosylation.
Congenital disorder of glycosylation type 2A  0   *Bone Diseases, Metabolic *Congenital Disorders of Glycosylation.
Congenital disorder of glycosylation type 1X  0   *Thrombocytopenia *Congenital Disorders of Glycosylation.
Congenital disorder of glycosylation type 1L  0   *Congenital Disorders of Glycosylation.
Congenital disorder of glycosylation type 1K  0   *Congenital Disorders of Glycosylation.
Congenital disorder of glycosylation type 1J  0   *Congenital Disorders of Glycosylation.
Congenital disorder of glycosylation type 1I  0   *Congenital Disorders of Glycosylation.
Congenital disorder of glycosylation type 1H  0   *Congenital Disorders of Glycosylation.
Congenital disorder of glycosylation type 1G  0   *Congenital Disorders of Glycosylation.
Congenital disorder of glycosylation type 1F  0   *Congenital Disorders of Glycosylation.
Congenital disorder of glycosylation type 1E  0   *Congenital Disorders of Glycosylation.
Congenital disorder of glycosylation type 1D  0   *Congenital Disorders of Glycosylation.
Congenital disorder of glycosylation type 1C  0   *Congenital Disorders of Glycosylation.
Congenital disorder of glycosylation type 1B  0   *Congenital Disorders of Glycosylation Mannose-6-Phosphate Isomerase/deficiency.
Congenital disorder of glycosylation type 1A  0   *Congenital Disorders of Glycosylation.

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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012

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