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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 51
described by
id
  • DOID:0111996
database_cross_reference
  • OMIM:613953
has_exact_synonym
  • CANDF5
  • IMD51
  • familial candidiasis 5
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • A primary immunodeficiency disease characterized by onset of chronic mucocutaneous candidiasis in the first years of life and lack of cellular responses to stimulation with certain IL17 isoforms that has_material_basis_in homozygous or compound heterozygous mutation in IL17RA on chromosome 22q11.1.
is topic of
is annotatedSource of
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