congenital disorder of glycosylation type IIg

Summary

DOID:0070259 - congenital disorder of glycosylation type IIg

Disease Ontology Definition:A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG1 gene on chromosome 17q25.1.

Synonyms: CDG2G, Carbohydrate deficient glycoprotein syndrome type IIg, Congenital disorder of glycosylation type IIg, CDG IIg, CDGII/COG1 cerebrocostomandibular-like syndrome, CDGIIg

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

: cog1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0012637 - COG1-congenital disorder of glycosylation

MONDO:0012637 - COG1-congenital disorder of glycosylation

MIM:

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

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

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)