Term Name: | congenital disorder of glycosylation type IId |
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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 ) |