Search Ontology:
Human Disease
congenital disorder of deglycosylation
- Term ID
- DOID:0060991
- Synonyms
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- Definition
- A carbohydrate metabolic disorder that is charactized mutations resulting in malfunction impacting the addition of glycans to proteins. https://www.chop.edu/conditions-diseases/congenital-disorders-glycosylation-cdg
- References
- Ontology
- Human Disease ( DOID:0060991 )
- is a type of
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- has subtype
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