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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: CDG IIe, CDG syndrome type IIe, CDG2E, CDGIIde, COG7-CDG, Carbohydrate deficient glycoprotein syndrome type IIe,
Xenbase Genes : ssr4, cog7
MONDO:0010490 - SSR4-congenital disorder of glycosylation |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee