Search Ontology:
Human Disease

congenital disorder of glycosylation type IIq

Term ID
DOID:0070269
Synonyms
  • CDG IIq
  • CDG2Q
  • CDGIIq
  • 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
Ontology
Human Disease   ( DOID:0070269 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models