congenital disorder of glycosylation type IIn

Summary

DOID:0070266 - congenital disorder of glycosylation type IIn

Disease Ontology Definition:A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the SLC39A8 gene on chromosome 4q24.

Synonyms: Carbohydrate deficient glycoprotein syndrome type IIn, CDG2N, CDGIIdn, CDG IIn, CDGIIn, CDG syndrome type IIn, Congenital disorder of glycosylation type 2n, SLC39A8-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

: slc39a8

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)