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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 57
described by
id
  • DOID:0111952
database_cross_reference
  • OMIM:618108
  • ORDO:529977
has_exact_synonym
  • IMD57
  • immunodeficiency 57 with autoinflammation
  • immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • A primary immunodeficiency disease characterized by recurrent infections starting in the first year of life, lymphopenia, altered production of various cytokines, inflammatory polyarthritis, and chronic active inflammation of the digestive tract that has_material_basis_in homozygous or compound heterozygous mutation in RIPK1 on chromosome 6p25.2.
is topic of
is annotatedSource of
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