DISEASES

Disease-gene associations mined from literature

Human genes for congenital disorder of glycosylation type IId

Congenital disorder of glycosylation type IId [DOID:0070256]

A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of B4GALT1 on chromosome 9p21.1.

Synonyms:  congenital disorder of glycosylation type IId,  congenital disorder of glycosylation type IIds,  DOID:0070256,  CDG2D,  CDG IId ...