Search Ontology:
Human Disease

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
has subtype
Other Pages
Genes Involved
Zebrafish Models