congenital disorder of glycosylation type IIo (DOID:0070267)
Alliance: disease page
Synonyms: Carbohydrate deficient glycoprotein syndrome type IIo; CCDC115-CDG; CDG2O; CDG IIo; CDG syndrome type IIo; CDGIIdo; Congenital disorder of glycosylation type 2o
Alt IDs: OMIM:616828, ORDO:468684
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.