congenital disorder of glycosylation type IIq

Term ID

DOID:0070269

Synonyms

CDG IIq
CDG2Q
CDGIIdq
COG2-CDG
COG2-related congenital disorder of glycosylation

Definition

A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the COG2 gene on chromosome 1q42.2. https://www.ncbi.nlm.nih.gov/pubmed/24784932

References

OMIM:617395
ORDO:435934

Ontology

Human Disease ( DOID:0070269 )

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

Citations