| 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 ) |