| 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 |