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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 31C
described by
id
  • DOID:0111946
database_cross_reference
  • OMIM:614162
  • ORDO:391487
has_exact_synonym
  • CANDF7
  • autosomal dominant chronic mucocutaneous familial candidiasis
  • IMD31C
  • autosomal dominant immunodeficiency 31C
  • familial candidiasis 7
  • autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • A primary immunodeficiency disease characterized by onset in infancy or childhood of chronic mucocutaneous candidiasis and increased IFNG activation that has_material_basis_in heterozygous gain of function mutation in STAT1 on chromosome 2q32.2.
is topic of
is annotatedSource of
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