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Disease Ontology Browser
congenital disorder of glycosylation type IIo (DOID:0070267)
Alliance: disease page
Synonyms: Carbohydrate deficient glycoprotein syndrome type IIo; CCDC115-CDG; CDG2O; CDG IIo; CDG syndrome type IIo; CDGIIdo; Congenital disorder of glycosylation type 2o
Alt IDs: OMIM:616828, ORDO:468684
Definition: A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of CCDC115 on chromosome 2q21.1.


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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last database update
03/21/2023
MGI 6.22
The Jackson Laboratory