congenital disorder of glycosylation type IIl

Summary

DOID:0070264 - congenital disorder of glycosylation type IIl

Disease Ontology Definition:A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the COG6 gene on chromosome 13q14.11.

Synonyms: CDG2L, CDGIIdl, CDG IIl, CDGIIl, CDG syndrome type IIL, COG6-CGD, Congenital disorder of glycosylation type 2l

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

: cog6

MIM:

MIM:614576 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L

MIM:614576 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L

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)