congenital disorder of glycosylation type IIj

Summary

DOID:0070262 - congenital disorder of glycosylation type IIj

Disease Ontology Definition:A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the COG4 gene on chromosome 16q22.1.

Synonyms: Carbohydrate deficient glycoprotein syndrome type IIj, CDG2J, CDGIIdj, CDG IIj, CDGIIj, CDG syndrome type IIj, COG4-CDG, Congenital disorder of glycosylation type 2j

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

: cog4

MIM:

MIM:613489 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj; CDG2J

MIM:613489 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj; CDG2J

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)