Metadata | |
---|---|
ID | 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 |
SNOMEDCT_US_2023_03_01:238049009 |
Subsets |
DO_rare_slim NCIthesaurus |
Synonyms |
carbohydrate-deficient glycoprotein syndrome [EXACT] |
Parent Relationships |
is_a carbohydrate metabolic disorder is_a physical disorder |