congenital disorder of glycosylation type IIh

Summary

DOID:0070260 - congenital disorder of glycosylation type IIh

Disease Ontology Definition:A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG8 gene on chromosome 16q22.1.

Synonyms: Carbohydrate deficient glycoprotein syndrome type IIh, CDG2H, CDGIIdh, CDG IIh, CDGIIh, COG8-CDG, Congenital disorder of glycosylation type 2h

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

: cog8

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0012635 - COG8-congenital disorder of glycosylation

MONDO:0012635 - COG8-congenital disorder of glycosylation

MIM:

MIM:611182 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh; CDG2H

MIM:611182 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh; CDG2H

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)