Term Name: | congenital disorder of glycosylation type IIl |
---|---|
Synonyms: | CDG IIl, CDG syndrome type IIL, CDG2L, CDGIIl, COG6-CGD, Congenital disorder of glycosylation type 2l |
Definition: | A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the COG6 gene on chromosome 13q14.11. |
Ontology: | Human Disease [DOID:0070264] ( DOID:0070264 ) |