MPDU1-congenital disorder of glycosylation
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
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