Search Ontology:
Human Disease
immunodeficiency 34
- Term ID
- DOID:0112000
- Synonyms
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- 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
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- MESH:C567068
- MIM:300645
- UMLS_CUI:C1970859
- Ontology
- Human Disease ( DOID:0112000 )
- is a type of
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