Term Name: congenital disorder of glycosylation type IIh
Synonyms: Carbohydrate deficient glycoprotein syndrome type IIh, CDG IIh, CDG2H, CDGIIh, COG8-CDG, Congenital disorder of glycosylation type 2h
Definition: A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG8 gene on chromosome 16q22.1.
Ontology: Human Disease [DOID:0070260]   ( DOID:0070260 )

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