congenital disorder of glycosylation type IIh Disease Ontology Browser

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Disease Ontology Browser

congenital disorder of glycosylation type IIh (DOID:0070260)
Alliance: disease page
Synonyms: Carbohydrate deficient glycoprotein syndrome type IIh; CDG2H; CDG IIh; CDGIIh; COG8-CDG; Congenital disorder of glycosylation type 2h
Alt IDs: OMIM:611182, MESH:C566987, ORDO:95428, UMLS_CUI:C1970021
Definition: A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG8 gene on chromosome 16q22.1.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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