Term Name: | congenital disorder of glycosylation type IIq |
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Synonyms: | CDG IIq, CDG2Q, CDGIIq, COG2-CDG, COG2-related congenital disorder of glycosylation |
Definition: | A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the COG2 gene on chromosome 1q42.2. |
Ontology: | Human Disease [DOID:0070269] ( DOID:0070269 ) |