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

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

: mgat2

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)