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Metadata
DOID DOID:5212
Name congenital disorder of glycosylation
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
Xrefs

GARD:10307

MESH:D018981

NCI:C84615

OMIM:PS212065

ORDO:137

UMLS_CUI:C0282577

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

carbohydrate-deficient glycoprotein syndrome [EXACT]

Relationships

is_a carbohydrate metabolic disorder

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