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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 30
described by
id
  • DOID:0111990
database_cross_reference
  • NCI:C176800
  • OMIM:614891
  • ORDO:319552
  • UMLS_CUI:C4013949
has_exact_synonym
  • Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency
  • IMD30
  • Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
  • MSMD due to complete IL12RB1 deficiency
  • MSMD due to complete interleukin 12 receptor beta 1 deficiency
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • A T cell and NK cell immunodeficiency characterized by absence of responses to IL12 and IL23 in T calls and NK cells that has_material_basis_in homozygous or compound heterozygous mutation in IL12RB1 on chromosome 19p13.11.
is topic of
is annotatedSource of
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