Term Name: | congenital disorder of glycosylation type IIi |
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Synonyms: | Carbohydrate deficient glycoprotein syndrome type IIi, CDG IIi, CDG syndrome type IIi, CDG2I, CDGIIi, COG5-CDG, Congenital disorder of glycosylation type 2i |
Definition: | A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG5 gene on chromosome 7q22.3. |
Ontology: | Human Disease [DOID:0070261] ( DOID:0070261 ) |