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DO Term : immunodeficiency 29 [DOID:0111950] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A primary immunodeficiency disease characterized by undetectable IL12B secretion by leukocytes and increased susceptibility to intracellular bacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the IL12B gene on chromosome 5q33.3.
  • synonyms:
  • ORDO:319558,
  • MSMD due to complete IL12B deficiency,
  • Mendelian susceptibility to mycobacterial diseases due to complete interleukin 12B deficiency,
  • OMIM:614890,
  • MSMD due to complete interleukin 12B deficiency,
  • Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency,
  • 614890,
  • immunodeficiency 29, mycobacteriosis,
  • IL12B deficiency,
  • IMD29
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Disease

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Diseases --> Mouse genes

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Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents