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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
Substance
CAS Registry & name
Categories
Source
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.