Term Name: congenital disorder of glycosylation type IIf
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 )

Relationships
is a type of: autosomal recessive disease congenital disorder of glycosylation type II