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Summary Literature (0)
DOID:0050571 - congenital disorder of glycosylation type II


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

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

Xenbase Genes : cog6, cog5, cog8, ssr4, cog7, tmem165, mgat2, slc35c1, slc35a1, cog1, b4galt1.2, b4galt1.1, mogs, cog4, slc35a2

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0005501 - congenital disorder of glycosylation type II

OMIM:
OMIM:212066 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa; CDG2A
OMIM:266265 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc; CDG2C
OMIM:300896 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm; CDG2M
OMIM:603585 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf; CDG2F
OMIM:606056 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIb; CDG2B
OMIM:607091 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IId; CDG2D
OMIM:608779 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe; CDG2E
OMIM:611182 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh; CDG2H
OMIM:611209 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg; CDG2G
OMIM:613489 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj; CDG2J
OMIM:613612 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi; CDG2I
OMIM:614576 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L
OMIM:614727 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIk; CDG2K

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)