congenital disorder of glycosylation type IIk

Term ID

DOID:0070263

Synonyms

• Carbohydrate deficient glycoprotein syndrome type IIk
• CDG IIk
• CDG syndrome type IIk
• CDG2K
• CDGIIk
• Congenital disorder of glycosylation type 2k
• TMEM165-CDG

Definition

A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the TMEM165 gene on chromosome 4q12. https://www.ncbi.nlm.nih.gov/pubmed/22683087

References

• GARD:12413
• MIM:614727
• ORDO:314667

Ontology

Human Disease   ( DOID:0070263 )