Summary Literature (0)

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 : 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 - rhombomere lateral wall

MIM:

MIM:212066 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa; CDG2A

MIM:266265 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc; CDG2C

MIM:300896 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm; CDG2M

MIM:603585 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf; CDG2F

MIM:606056 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIb; CDG2B

MIM:607091 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IId; CDG2D

MIM:608779 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe; CDG2E

MIM:611182 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh; CDG2H

MIM:611209 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg; CDG2G

MIM:613489 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj; CDG2J

MIM:613612 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi; CDG2I

MIM:614576 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L

MIM:614727 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIk; CDG2K

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

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