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DO Term : immunodeficiency 31A [DOID:0111945] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A primary immunodeficiency disease characterized by impaired response to IFNG but not to INFA or IFNB resulting in increased susceptibility to mycobacterial infection that has_material_basis_in heterozygous mutation in the STAT1 gene on chromosome 2q32.2.
  • synonyms:
  • Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency,
  • 614892,
  • autosomal dominant immunodeficiency 31A, mycobacteriosis,
  • Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency,
  • MSMD due to partial STAT1 deficiency,
  • MSMD due to partial signal transducer and activator of transcription 1 deficiency,
  • OMIM:614892,
  • IMD31A,
  • ORDO:319595
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