congenital disorder of glycosylation type IIl

Term ID

DOID:0070264

Synonyms

• CDG IIl
• CDG syndrome type IIL
• CDG2L
• CDGIIdl
• 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. https://www.ncbi.nlm.nih.gov/pubmed/20605848

References

• GARD:10944
• OMIM:614576
• ORDO:464443

Ontology

Human Disease   ( DOID:0070264 )