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, CDG IIf, CDGIIdf, CDG2F, CMP-sialic acid transporter deficiency, SLC35A1-CDG, CDGIIf

Echinobase 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

MIM:

MIM:603585 - congenital disorder of glycosylation, type iif; cdg2f

MIM:603585 - congenital disorder of glycosylation, type iif; cdg2f

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)