congenital disorder of glycosylation type IIa

Summary

DOID:0070253 - congenital disorder of glycosylation type IIa

Disease Ontology Definition:A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the MGAT2 gene on chromosome 14q21.3.

Synonyms: Alkuraya syndrome, CDG IIa, CDG2A, CDGIIa, CDGS2, carbohydrate-deficient glycoprotein syndrome, type II, congenital disorder of glycosylation, type IIa, mental retardation, growth retardation, prominent columella, and open mouth,

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: mgat2

OMIM:

MIM:212066 - congenital disorder of glycosylation, type iia; cdg2a

MIM:212066 - congenital disorder of glycosylation, type iia; cdg2a

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)