DDOST-congenital disorder of glycosylation
DDOST-CDG is a form of congenital disorders of N-linked glycosylation characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction. The disease is caused by mutations in the gene DDOST (1p36.1).
MONDO:0005500
congenital disorder of glycosylation type I
is_a
MONDO:0017740
disorder of protein N-glycosylation
is_a
CDG syndrome type Ir
exact
CDG-Ir
exact
CDG1R
exact
DDOST-CDG
exact
DDOST-CDG (CDG-Ir)
related
DDOST-congenital disorder of glycosylation
exact
carbohydrate deficient glycoprotein syndrome type
related
carbohydrate deficient glycoprotein syndrome type Ir
exact
congenital disorder of glycosylation type 1r
exact
congenital disorder of glycosylation type Ir
exact
congenital disorder of glycosylation, type Ir
related
SPCC338.15