congenital disorder of glycosylation type IIq

Summary

DOID:0070269 - congenital disorder of glycosylation type IIq

Disease Ontology Definition:A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the COG2 gene on chromosome 1q42.2.

Synonyms: COG2-CDG, COG2-related congenital disorder of glycosylation, CDGIIdq, CDG IIq, CDG2Q, CDGIIq

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

: cog2

MIM:

MIM:617395 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq; CDG2Q

MIM:617395 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq; CDG2Q

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

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

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