congenital disorder of glycosylation

Term ID

DOID:5212

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. http://en.wikipedia.org/wiki/Congenital_disorder_of_glycosylation

References

GARD:10307
MESH:D018981
NCI:C84615
ORDO:137
SNOMEDCT_US_2023_03_01:238049009
UMLS_CUI:C0282577

Ontology

Human Disease ( DOID:5212 )

Relationships

is a type of: carbohydrate metabolic disorder physical disorder

carbohydrate metabolic disorder physical disorder Show first 5 Terms
has subtype: alacrima, achalasia, and impaired intellectual development syndrome congenital disorder of glycosylation type I congenital disorder of glycosylation type II

alacrima, achalasia, and impaired intellectual development syndrome congenital disorder of glycosylation type I congenital disorder of glycosylation type II Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models