Term Name: | congenital disorder of glycosylation type IIk |
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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 ) |