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DO Term : immunodeficiency 28 [DOID:0111995] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A primary immunodeficiency disease characterized by increased susceptibility to mycobacterial disease, high levels of IFNG in the plasma, and absence of cellular response to IFNG that has_material_basis_in homozygous or compound heterozygous mutation in the IFNGR2 gene on chromosome 21q22.11.
  • synonyms:
  • IFNGR2 deficiency,
  • ORDO:319547,
  • IMD28,
  • MSMD due to complete interferon gamma receptor 2 deficiency,
  • 614889,
  • Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 2 deficiency,
  • OMIM:614889,
  • MSMD due to complete IFNgammaR2 deficiency,
  • Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency,
  • immunodeficiency 28, mycobacteriosis
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Ontology Term --> All ancestors

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Ontology Term --> Direct children

Ontology Term --> Direct parents