Term Name: congenital disorder of glycosylation type IIk
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.
Ontology: Human Disease [DOID:0070263]   ( DOID:0070263 )

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