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)

Echinobase Genes : cog8, tmem165, cog7, cog6, slc35a1, mogs, mgat2, slc35c1, cog5, slc35a2, cog4, cog1


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