COG8-congenital disorder of glycosylation
The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type IIh is characterized by severe psychomotor retardation, failure to thrive and intolerance to wheat and dairy products.
MONDO:0005501
congenital disorder of glycosylation type II
is_a
MONDO:0017750
defect in conserved oligomeric Golgi complex
is_a
CDG syndrome type IIh
exact
CDG-IIh
exact
CDG2H
exact
COG8-CDG
exact
COG8-CDG (CDG-IIh)
related
COG8-congenital disorder of glycosylation
exact
carbohydrate deficient glycoprotein syndrome type IIh
exact
congenital disorder of glycosylation type 2h
exact
congenital disorder of glycosylation type IIh
exact
congenital disorder of glycosylation, type IIh
related
SPBC11B10.03