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An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

AttributesValues
type
subClassOf
label
  • immunodeficiency 27A
described by
id
  • DOID:0111955
database_cross_reference
  • MESH:C535530
  • OMIM:209950
  • ORDO:319569
has_exact_synonym
  • autosomal recessive MSMD due to partial IFNgammaR1 deficiency
  • IMD27A
  • autosomal recessive immunodeficiency 27A, mycobacteriosis
  • autosomal recessive IFNGR1 deficiency
  • autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
  • autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency
  • autosomal recessive MSMD due to partial interferon gamma receptor 1 deficiency
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • 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 IFNGR1 on chromosome 6q23.3.
is topic of
is annotatedSource of
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