congenital disorder of glycosylation type II

Summary

DOID:0050571 - congenital disorder of glycosylation type II

Disease Ontology Definition:A congenital disorder of glycosylation that involves malfunctioning trimming or processing of the protein-bound oligosaccharide chain.

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

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: cog6, cog5, atp6ap1, cog8, cog2, ssr4, cog7, tmem165, mgat2, slc35c1, atp6ap1.2, slc35a1, slc39a8, cog1, b4galt1.2, [+]

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0005501 - congenital disorder of glycosylation type II

MONDO:0005501 - congenital disorder of glycosylation type II

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): congenital disorder of glycosylation (is_a)