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DO Term : immunodeficiency 34 [DOID:0112000] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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.

synonyms:
IMD34,
X-linked MSMD due to CYBB deficiency,
familial atypical mycobacteriosis X-linked 2,
UMLS_CUI:C1970859,
OMIM:300645,
AMCBX2,
immunodeficiency 34, mycobacteriosis, X-linked,
MESH:C567068,
300645,
X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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