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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
  • otulipenia (en)
described by
id
  • DOID:0080163
database_cross_reference
  • GARD:13198
  • OMIM:617099
has_exact_synonym
  • otulin-related autoinflammatory syndrome (en)
  • autoinflammation, panniculitis and dermatosis syndrome (en)
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • An immune system disease that is characterized by neonatal onset of recurrent fever, erythematous rash with painful nodules, painful joints, and lipodystrophy and has_material_basis_in autosomal recessive inheritance of homozygous loss-of-function mutations in the OTULIN gene encoding a deubiquitinase with linear linkage specificity on chromosome 5p15.
is topic of
is annotatedSource of
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