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DOID:0112002 - immunodeficiency 47
Disease Ontology 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.
Synonyms: CDG2S, CDG IIs, CDGIIs, congenital disorder of glycosylation type IIs, IMD47, immunodeficiency and hepatopathy with or without neurologic features
Xenbase Genes
:
atp6ap1,
atp6ap1.2
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
congenital disorder of glycosylation type II (is_a),
primary immunodeficiency disease (is_a)