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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 31B
described by
id
  • DOID:0111944
database_cross_reference
  • OMIM:613796
  • ORDO:391311
has_exact_synonym
  • IMD31B
  • susceptibility to viral and mycobacterial infections due to STAT1 deficiency
  • autosomal recessive STAT1 deficiency
  • autosomal recessive immunodeficiency 31B, mycobacterial and viral infections
  • predisposition to severe viral infection due to STAT1 deficiency
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • A primary immunodeficiency disease characterized by impaired cellular responses to interferons A, B, and G resulting increased susceptibility to mycobacteria, Salmonella, and viruses that has_material_basis_in homozygous or compound heterozygous mutation in STAT1 on chromosome 2q32.2.
is topic of
is annotatedSource of
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