OBO ID: DOID:0112000
Term Name: immunodeficiency 34 Search Ontology:
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 )
OTHER immunodeficiency 34 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CYBB Immunodeficiency 34, mycobacteriosis, X-linked 300645
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None