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Disease Ontology Browser
immunodeficiency 47 (DOID:0112002)
Alliance: disease page
Synonyms: CDG2S; CDG IIs; CDGIIs; congenital disorder of glycosylation type IIs; IMD47; immunodeficiency and hepatopathy with or without neurologic features
Alt IDs: OMIM:300972, UMLS_CUI:C4310819
Definition: A primary immunodeficiency disease characterized by liver dysfunction, recurrent bacterial infections, hypogammaglobulinemia, and defective glycosylation of serum proteins that has_material_basis_in hemizygous mutation in the ATP6AP1 gene on chromosome Xq28.

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
11/12/2024
MGI 6.24 		The Jackson Laboratory