Search Ontology:
Human Disease

immunodeficiency 47

Term ID
DOID:0112002
Synonyms
  • CDG IIs
  • CDG2S
  • CDGIIs
  • congenital disorder of glycosylation type IIs
  • IMD47
  • immunodeficiency and hepatopathy with or without neurologic features
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. https://pubmed.ncbi.nlm.nih.gov/27231034/
References
Ontology
Human Disease   ( DOID:0112002 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models