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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 10
described by
id
  • DOID:0111970
database_cross_reference
  • MESH:C557827
  • OMIM:612783
  • ORDO:317430
  • UMLS_CUI:C2748557
has_exact_synonym
  • immune dysfunction with T-cell inactivation due to calcium entry defect 2
  • CID due to STIM1 deficiency
  • IMD10
  • STIM1 deficiency
  • combined immunodeficiency due to STIM1 deficiency
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • A T cell and NK cell immunodeficiency characterized by onset in childhood of recurrent infections due to defective T- and NK-cell function that has_material_basis_in homozygous or compound heterozygous mutation in STIM1 on chromosome 11p15.4.
is topic of
is annotatedSource of
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