Term Name: | congenital disorder of glycosylation type IIg |
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Synonyms: | Carbohydrate deficient glycoprotein syndrome type IIg, CDG IIg, CDG2G, CDGII/COG1 cerebrocostomandibular-like syndrome, CDGIIg |
Definition: | A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG1 gene on chromosome 17q25.1. |
Ontology: | Human Disease [DOID:0070259] ( DOID:0070259 ) |