MPDU1-congenital disorder of glycosylation
CDG 1F
related
CDG syndrome type If
exact
CDG-If
exact
CDG1F
exact
CDGIf
exact
MPDU1-CDG
exact
MPDU1-CDG (CDG-If)
related
carbohydrate deficient glycoprotein syndrome type If
exact
carbohydrate-deficient glycoprotein syndrome type 1F
related
congenital disorder of glycosylation type 1f
exact
congenital disorder of glycosylation type If
exact
congenital disorder of glycosylation, type If
related
The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type If is characterized by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies.
MONDO:0005093
skin disorder
excluded_subClassOf
MONDO:0005500
congenital disorder of glycosylation type I
is_a
MONDO:0017749
disorder of multiple glycosylation
is_a