congenital disorder of glycosylation type IIe

Summary

DOID:0070257 - congenital disorder of glycosylation type IIe

Disease Ontology Definition:A congenital disorder of glycosylation type II that has_material_basis_in a mutation of COG7 on chromosome 16p12.2.

Synonyms: CDG IIe, CDG syndrome type IIe, CDG2E, CDGIIde, COG7-CDG, Carbohydrate deficient glycoprotein syndrome type IIe

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

: ssr4, cog7

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0010490 - SSR4-CDG

MONDO:0010490 - SSR4-CDG

OMIM:

OMIM:608779 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe; CDG2E

OMIM:608779 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe; CDG2E

Other Model Organisms: AGR, 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)