congenital disorder of glycosylation type IIl

Term ID

DOID:0070264

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. https://www.ncbi.nlm.nih.gov/pubmed/20605848

References

GARD:10944
MIM:614576
ORDO:464443

Ontology

Human Disease ( DOID:0070264 )

Relationships

is a type of: autosomal recessive disease congenital disorder of glycosylation type II

autosomal recessive disease congenital disorder of glycosylation type II Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models