Term Name: | congenital disorder of glycosylation type IIe |
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Synonyms: | Carbohydrate deficient glycoprotein syndrome type IIe, CDG IIe, CDG syndrome type IIe, CDG2E, CDGIIe, COG7-CDG |
Definition: | A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG7 gene on chromosome 16p12.2. |
Ontology: | Human Disease [DOID:0070257] ( DOID:0070257 ) |