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DO Term : immunodeficiency 27B [DOID:0111956] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  A primary immunodeficiency disease characterized by residual cellular responses to IFNG in vitro and recurrent, moderately severe infections with environmental mycobacteria or bacillus Calmette-Guerin that has_material_basis_in heterozygous mutation in the IFNGR1 gene on chromosome 6q23.3.
  • synonyms:
  • autosomal dominant IFNGR1 deficiency,
  • ORDO:319581,
  • autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency,
  • autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency,
  • 615978,
  • OMIM:615978,
  • autosomal dominant MSMD due to partial IFNgammaR1 deficiency,
  • autosomal dominant immunodeficiency 27B, mycobacteriosis,
  • IMD27B,
  • autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency
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Ontology Term --> Direct parents





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