Term Name: congenital disorder of glycosylation type IIo
Synonyms: Carbohydrate deficient glycoprotein syndrome type IIo, CCDC115-CDG, CDG IIo, CDG syndrome type IIo, CDG2O, CDGIIo, Congenital disorder of glycosylation type 2o
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.
Ontology: Human Disease [DOID:0070267]   ( DOID:0070267 )

Relationships
is a type of: autosomal recessive disease congenital disorder of glycosylation type II