congenital disorder of glycosylation type IIo

Summary

DOID:0070267 - congenital disorder of glycosylation type IIo

Disease Ontology Definition:A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the CCDC115 gene on chromosome 2q21.1.

Synonyms: CDGIIo, Congenital disorder of glycosylation type 2o, CCDC115-CDG, CDG IIo, CDG syndrome type IIo, CDG2O, CDGIIdo, Carbohydrate deficient glycoprotein syndrome type IIo

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

: vma22

MIM:

MIM:616828 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo; CDG2O

MIM:616828 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo; CDG2O

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view

Parent(s): autosomal recessive disease (is_a), congenital disorder of glycosylation type II (is_a)