congenital disorder of glycosylation type IIb

Summary

DOID:0070254 - congenital disorder of glycosylation type IIb

Disease Ontology Definition:A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the MOGS gene on chromosome 2p13.1.

Synonyms: CDG2B, CDG IIb, CDGIIb, glucosidase I deficiency

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

: mogs

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0011629 - MOGS-congenital disorder of glycosylation

MONDO:0011629 - MOGS-congenital disorder of glycosylation

MIM:

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

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

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

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

Parent(s): autosomal recessive disease (is_a), congenital disorder of glycosylation type II (is_a)