Term Name: | congenital disorder of glycosylation type IIb |
---|---|
Synonyms: | CDG IIb, CDG2B, CDGIIb, glucosidase I deficiency |
Definition: | A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the MOGS gene on chromosome 2p13.1. |
Ontology: | Human Disease [DOID:0070254] ( DOID:0070254 ) |