Version: 8.0.0
Date: Tue Jan 28 2025
immunodeficiency 47
DOID:0112002
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

immunodeficiency 47

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
  • CDG IIs
  • CDG2S
Cross References
Parent Terms
Child Terms
None
Sources of Associations

Associated Genes

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    Associated Alleles

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      Associated Models

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