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Summary Literature (0)
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 : ssr4, cog7

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0010490 - SSR4-CDG

OMIM:
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)