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 the COG7 gene on chromosome 16p12.2.

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

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-congenital disorder of glycosylation

MONDO:0010490 - SSR4-congenital disorder of glycosylation

MIM:

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

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

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)