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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: CDG IIh, CDG2H, CDGIIdh, COG8-CDG, Carbohydrate deficient glycoprotein syndrome type IIh, Congenital disorder of glycosylation type 2h,
Xenbase Genes : cog8
MONDO:0012635 - COG8-congenital disorder of glycosylation |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee