congenital disorder of glycosylation type IIk

Summary

DOID:0070263 - congenital disorder of glycosylation type IIk

Disease Ontology Definition:A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the TMEM165 gene on chromosome 4q12.

Synonyms: CDG IIk, CDG syndrome type IIk, CDG2K, CDGIIdk, Carbohydrate deficient glycoprotein syndrome type IIk, Congenital disorder of glycosylation type 2k, TMEM165-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

: tmem165

Other Model Organisms: AGR, 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)