Search Ontology:
Human Disease

immunodeficiency 34

Term ID
DOID:0112000
Synonyms
  • AMCBX2
  • familial atypical mycobacteriosis X-linked 2
  • IMD34
  • immunodeficiency 34, mycobacteriosis, X-linked
  • X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
  • X-linked MSMD due to CYBB deficiency
Definition
A phagocyte bactericidal dysfunction characterized by impaired respiratory burst in all types of phagocytes and increased susceptibility to infection by poorly virulent mycobacteria that has_material_basis_in hemizygous mutation in the CYBB gene on chromosome Xp21.1-p11.4. (2)
References
Ontology
Human Disease   ( DOID:0112000 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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