Term Name: | congenital disorder of glycosylation type IIh |
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Synonyms: | Carbohydrate deficient glycoprotein syndrome type IIh, CDG IIh, CDG2H, CDGIIh, COG8-CDG, Congenital disorder of glycosylation type 2h |
Definition: | A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG8 gene on chromosome 16q22.1. |
Ontology: | Human Disease [DOID:0070260] ( DOID:0070260 ) |