congenital disorder of glycosylation type IIf

Summary

DOID:0070258 - congenital disorder of glycosylation type IIf

Disease Ontology Definition:A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the SLC35A1 gene on chromosome 6q15.

Synonyms: Carbohydrate deficient glycoprotein syndrome type IIf, CDG2F, CDGIIdf, CDG IIf, CDGIIf, CMP-sialic acid transporter deficiency, SLC35A1-CDG

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: slc35a1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0011342 - SLC35A1-congenital disorder of glycosylation

MONDO:0011342 - SLC35A1-congenital disorder of glycosylation

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), congenital disorder of glycosylation type II (is_a)