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Disease Ontology Browser
congenital disorder of glycosylation type IIk (DOID:0070263)
Alliance: disease page
Synonyms: Carbohydrate deficient glycoprotein syndrome type IIk; CDG2K; CDG IIk; CDG syndrome type IIk; CDGIIk; Congenital disorder of glycosylation type 2k; TMEM165-CDG
Alt IDs: OMIM:614727, ORDO:314667
Definition: A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the TMEM165 gene on chromosome 4q12.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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12/10/2024
MGI 6.24 		The Jackson Laboratory