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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: CDG IIf, CDG2F, CDGIIdf, CMP-sialic acid transporter deficiency, Carbohydrate deficient glycoprotein syndrome type IIf, SLC35A1-CDG,
Echinobase Genes : slc35a1
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