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Disease Ontology Browser
congenital disorder of glycosylation type IIn (DOID:0070266)
Alliance: disease page
Synonyms: Carbohydrate deficient glycoprotein syndrome type IIn; CDG2N; CDG IIn; CDG syndrome type IIn; CDGIIn; Congenital disorder of glycosylation type 2n; SLC39A8-CDG
Alt IDs: OMIM:616721, ORDO:468699
Definition: A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the SLC39A8 gene on chromosome 4q24.

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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Send questions and comments to User Support. 		last database update
12/17/2024
MGI 6.24 		The Jackson Laboratory