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DO Term : immunodeficiency 27A [DOID:0111955] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  A primary immunodeficiency disease characterized by high circulating levels of IFNG, failure of cellular responses to IFNG, and early and often fatal mycobacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the IFNGR1 gene on chromosome 6q23.3.
  • synonyms:
  • MESH:C535530,
  • OMIM:209950,
  • autosomal recessive MSMD due to partial interferon gamma receptor 1 deficiency,
  • 209950,
  • IMD27A,
  • autosomal recessive IFNGR1 deficiency,
  • autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency,
  • autosomal recessive immunodeficiency 27A, mycobacteriosis,
  • autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency,
  • ORDO:319569,
  • autosomal recessive MSMD due to partial IFNgammaR1 deficiency
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Disease

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Ontology

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Ontology Term --> Direct parents





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