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congenital disorder of glycosylation type II

^ http://purl.obolibrary.org/obo/MONDO_0005501

A congenital disorder of glycosylation that involves malfunctioning trimming/processing of the protein-bound oligosaccharide chain. [ DOID:0050571 http://en.wikipedia.org/wiki/Congenital_disorder_of_glycosylation#Classification ]

Term info

database cross reference
  • OMIMPS:212066 (MONDO:equivalentTo)
  • MESH:C535747 (MONDO:equivalentTo)
  • DOID:0050571 (MONDO:equivalentTo)
  • EFO:0005546 (MONDO:equivalentTo)
definition

A congenital disorder of glycosylation that involves malfunctioning trimming/processing of the protein-bound oligosaccharide chain.

exactMatch

https://omim.org/phenotypicSeries/PS212066, http://identifiers.org/mesh/C535747, http://purl.obolibrary.org/obo/DOID_0050571

has exact synonym

congenital disorder of glycosylation type II, congenital disorders of glycosylation, type II

has related synonym

MOGS-CDG, B4GALT1-CDG (CDG-2d), MGAT2-CDG, B4GALT1-CDG, MOGS-CDG (CDG-2b), MGAT2-CDG (CDG-2a)

id

MONDO:0005501

Term relations