Terminology Service for NFDI4Health
congenital disorder of glycosylation type II
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http://www.ebi.ac.uk/efo/EFO_0005546
A congenital disorder of glycosylation that involves malfunctioning trimming/processing of the protein-bound oligosaccharide chain. [ http://en.wikipedia.org/wiki/Congenital_disorder_of_glycosylation#Classification ]
Term info
Label
congenital disorder of glycosylation type II
Synonyms
- congenital disorder of glycosylation type II
- congenital disorders of glycosylation, type II
exactMatch
https://omim.org/phenotypicSeries/PS212066, http://identifiers.org/mesh/C535747, http://purl.obolibrary.org/obo/DOID_0050571
has related synonym
MOGS-CDG, B4GALT1-CDG (CDG-2d), MGAT2-CDG, B4GALT1-CDG, MOGS-CDG (CDG-2b), MGAT2-CDG (CDG-2a)
id
EFO:0005546
Term relations
Subclass of:
- congenital disorder of glycosylation
- realized in some (
disease course and
has_part some glycosylation)