congenital disorder of glycosylation type IIi

Summary

DOID:0070261 - congenital disorder of glycosylation type IIi

Disease Ontology Definition:A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG5 gene on chromosome 7q22.3.

Synonyms: Carbohydrate deficient glycoprotein syndrome type IIi, CDGIIdi, CDGIIi, CDG IIi, CDG syndrome type IIi, CDG2I, COG5-CDG, Congenital disorder of glycosylation type 2i

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

: cog5

MIM:

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

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

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)