Term Name: | congenital disorder of glycosylation type IIf |
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Synonyms: | Carbohydrate deficient glycoprotein syndrome type IIf, CDG IIf, CDG2F, CDGIIf, CMP-sialic acid transporter deficiency, SLC35A1-CDG |
Definition: | A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the SLC35A1 gene on chromosome 6q15. |
Ontology: | Human Disease [DOID:0070258] ( DOID:0070258 ) |