Term Name: congenital disorder of glycosylation
Synonyms: carbohydrate-deficient glycoprotein syndrome
Definition: A carbohydrate metabolic disorder that involves deficient or defective glycosylation of a variety of tissue proteins and/or lipids.
Ontology: Human Disease [DOID:5212]   ( DOID:5212 )

Relationships
is a type of: carbohydrate metabolic disorder physical disorder
has subtype: alacrima, achalasia, and impaired intellectual development syndrome congenital disorder of glycosylation type I congenital disorder of glycosylation type II