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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 7
described by
id
  • DOID:0111977
database_cross_reference
  • OMIM:615387
  • ORDO:397959
  • UMLS_CUI:C3809332
has_exact_synonym
  • IMD7
  • TCR-alpha-beta-positive T-cell deficiency
  • immunodeficiency 7, TCR-alpha/beta deficient
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • A T cell deficiency characterized by decreased or absent CD3+ T cells with TCR-alpha/beta expression, immune dysregulation, recurrent infections, and failure to thrive that has_material_basis_in homozygous or compound heterozygous mutation in TRAC on chromosome 14q11.2.
is topic of
is annotatedSource of
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