Term Name: congenital disorder of glycosylation type IId
Synonyms: CDG IId, CDG2D, CDGIId
Definition: A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the B4GALT1 gene on chromosome 9p21.1.
Ontology: Human Disease [DOID:0070256]   ( DOID:0070256 )

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