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An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

AttributesValues
type
subClassOf
label
  • immunodeficiency 34
described by
id
  • DOID:0112000
database_cross_reference
  • MESH:C567068
  • OMIM:300645
  • UMLS_CUI:C1970859
has_exact_synonym
  • X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
  • AMCBX2
  • IMD34
  • X-linked MSMD due to CYBB deficiency
  • familial atypical mycobacteriosis X-linked 2
  • immunodeficiency 34, mycobacteriosis, X-linked
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • 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 CYBB on chromosome Xp21.1-p11.4.
is topic of
is annotatedSource of
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